A condition caused by a deficiency or a loss of melanin pigmentation in the epidermis, also known as hypomelanosis. Hypopigmentation can be localized or generalized, and may result from genetic defects, trauma, inflammation, or infections.
Rare, autosomal dominant disease with variable penetrance and several known clinical types. Characteristics may include depigmentation of the hair and skin, congenital deafness, heterochromia iridis, medial eyebrow hyperplasia, hypertrophy of the nasal root, and especially dystopia canthorum. The underlying cause may be defective development of the neural crest (neurocristopathy). Waardenburg's syndrome may be closely related to piebaldism. Klein-Waardenburg Syndrome refers to a disorder that also includes upper limb abnormalities.
A subclass of closely-related SOX transcription factors. Members of this subfamily have been implicated in regulating the differentiation of OLIGODENDROCYTES during neural crest formation and in CHONDROGENESIS.
A basic helix-loop-helix leucine zipper transcription factor that regulates the CELL DIFFERENTIATION and development of a variety of cell types including MELANOCYTES; OSTEOCLASTS; and RETINAL PIGMENT EPITHELIUM. Mutations in MITF protein have been associated with OSTEOPETROSIS and WAARDENBURG SYNDROME.
A characteristic symptom complex.
A family of transcription factors that control EMBRYONIC DEVELOPMENT within a variety of cell lineages. They are characterized by a highly conserved paired DNA-binding domain that was first identified in DROSOPHILA segmentation genes.
A 21-amino acid peptide that circulates in the plasma, but its source is not known. Endothelin-3 has been found in high concentrations in the brain and may regulate important functions in neurons and astrocytes, such as proliferation and development. It also is found throughout the gastrointestinal tract and in the lung and kidney. (N Eng J Med 1995;333(6):356-63)
Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is X-linked (Nettleship-Falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity.
Heterogeneous group of autosomal recessive disorders comprising at least four recognized types, all having in common varying degrees of hypopigmentation of the skin, hair, and eyes. The two most common are the tyrosinase-positive and tyrosinase-negative types.
Congenital MEGACOLON resulting from the absence of ganglion cells (aganglionosis) in a distal segment of the LARGE INTESTINE. The aganglionic segment is permanently contracted thus causing dilatation proximal to it. In most cases, the aganglionic segment is within the RECTUM and SIGMOID COLON.
Unequal pupil size, which may represent a benign physiologic variant or a manifestation of disease. Pathologic anisocoria reflects an abnormality in the musculature of the iris (IRIS DISEASES) or in the parasympathetic or sympathetic pathways that innervate the pupil. Physiologic anisocoria refers to an asymmetry of pupil diameter, usually less than 2mm, that is not associated with disease.
A general term for the complete loss of the ability to hear from both ears.
A congenital or acquired condition of underdeveloped or degeneration of CARTILAGE in the LARYNX. This results in a floppy laryngeal wall making patency difficult to maintain.
Diseases, dysfunctions, or disorders of or located in the iris.
Mammalian pigment cells that produce MELANINS, pigments found mainly in the EPIDERMIS, but also in the eyes and the hair, by a process called melanogenesis. Coloration can be altered by the number of melanocytes or the amount of pigment produced and stored in the organelles called MELANOSOMES. The large non-mammalian melanin-containing cells are called MELANOPHORES.
Color of hair or fur.
Syndrome characterized by the triad of oculocutaneous albinism (ALBINISM, OCULOCUTANEOUS); PLATELET STORAGE POOL DEFICIENCY; and lysosomal accumulation of ceroid lipofuscin.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
A family of low-molecular weight, non-histone proteins found in chromatin.
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
Melanin-containing organelles found in melanocytes and melanophores.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
Color of the iris.
Excessive pigmentation of the skin, usually as a result of increased epidermal or dermal melanin pigmentation, hypermelanosis. Hyperpigmentation can be localized or generalized. The condition may arise from exposure to light, chemicals or other substances, or from a primary metabolic imbalance.
The two longitudinal ridges along the PRIMITIVE STREAK appearing near the end of GASTRULATION during development of nervous system (NEURULATION). The ridges are formed by folding of NEURAL PLATE. Between the ridges is a neural groove which deepens as the fold become elevated. When the folds meet at midline, the groove becomes a closed tube, the NEURAL TUBE.
Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
Coloration of the skin.
Biochemical identification of mutational changes in a nucleotide sequence.
Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.
Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases.
Recurring supersecondary structures characterized by 20 amino acids folding into two alpha helices connected by a non-helical "loop" segment. They are found in many sequence-specific DNA-BINDING PROTEINS and in CALCIUM-BINDING PROTEINS.
DNA-binding motifs formed from two alpha-helixes which intertwine for about eight turns into a coiled coil and then bifurcate to form Y shaped structures. Leucines occurring in heptad repeats end up on the same sides of the helixes and are adjacent to each other in the stem of the Y (the "zipper" region). The DNA-binding residues are located in the bifurcated region of the Y.
A family of DNA-binding transcription factors that contain a basic HELIX-LOOP-HELIX MOTIF.
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
A discipline concerned with studying biological phenomena in terms of the chemical and physical interactions of molecules.
The systematic study of the complete DNA sequences (GENOME) of organisms.
A SOXE transcription factor that plays a critical role in regulating CHONDROGENESIS; OSTEOGENESIS; and male sex determination. Loss of function of the SOX9 transcription factor due to genetic mutations is a cause of CAMPOMELIC DYSPLASIA.
Facilities equipped to carry out investigative procedures.
A subclass of closely-related SOX transcription factors. Members of the group have been found expressed in developing neuronal tissue, LYMPHOCYTES, and during EMBRYONIC DEVELOPMENT.
Autosomal dominant, congenital disorder characterized by localized hypomelanosis of the skin and hair. The most familiar feature is a white forelock presenting in 80 to 90 percent of the patients. The underlying defect is possibly related to the differentiation and migration of melanoblasts, as well as to defective development of the neural crest (neurocristopathy). Piebaldism may be closely related to WAARDENBURG SYNDROME.
Curved rows of HAIR located on the upper edges of the eye sockets.
Congenital structural deformities of the upper and lower extremities collectively or unspecified.
Retroviruses that have integrated into the germline (PROVIRUSES) that have lost infectious capability but retained the capability to transpose.
Lack of stability of a joint or joint prosthesis. Factors involved are intra-articular disease and integrity of extra-articular structures such as joint capsule, ligaments, and muscles.
An enzyme capable of hydrolyzing highly polymerized DNA by splitting phosphodiester linkages, preferentially adjacent to a pyrimidine nucleotide. This catalyzes endonucleolytic cleavage of DNA yielding 5'-phosphodi- and oligonucleotide end-products. The enzyme has a preference for double-stranded DNA.
These growth factors comprise a family of hematopoietic regulators with biological specificities defined by their ability to support proliferation and differentiation of blood cells of different lineages. ERYTHROPOIETIN and the COLONY-STIMULATING FACTORS belong to this family. Some of these factors have been studied and used in the treatment of chemotherapy-induced neutropenia, myelodysplastic syndromes, and bone marrow failure syndromes.
Analog or digital communications device in which the user has a wireless connection from a telephone to a nearby transmitter. It is termed cellular because the service area is divided into multiple "cells." As the user moves from one cell area to another, the call is transferred to the local transmitter.
Cells of the higher organisms, containing a true nucleus bounded by a nuclear membrane.
Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control (induction or repression) of gene action at the level of transcription or translation.
Computer programs or software installed on mobile electronic devices which support a wide range of functions and uses which include television, telephone, video, music, word processing, and Internet service.
The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.
RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.
... hypopigmentation and deafness occur together in the rare Waardenburg's syndrome, predominantly observed among the Hopi in North ... Albino Albinism in biology Griscelli syndrome, a syndrome characterised by hypopigmentation Human skin color Melanin theory ... However, a lack of melanin per se does not appear to be directly responsible for deafness associated with hypopigmentation, as ...
For example, mutations of MITF have been implicated in both Waardenburg syndrome and Tietz syndrome. Waardenburg syndrome is a ... Smith SD, Kelley PM, Kenyon JB, Hoover D (June 2000). "Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF". ... Waardenburg syndrome, and Tietz syndrome. Its function is conserved across vertebrates, including in fishes such as zebrafish ... The shortage of melanocytes causes some of the characteristic features of Waardenburg syndrome.[citation needed] Tietz syndrome ...
Waardenburg syndrome (WS) is described as "the combination of sensorineural hearing loss, hypopigmentation of skin and hair, ... This helped them distinguish forms of Waardenburg syndrome. Their evaluation consisted of specifying Waardenburg syndrome type ... brought about the idea of Waardenburg syndrome when he examined two deaf twins. Waardenburg decided to define the syndrome with ... According to a dictionary of dermatologic syndromes, Waardenburg syndrome has many notable features, including "depigmentation ...
Zlotogora J (November 1995). "X-linked albinism-deafness syndrome and Waardenburg syndrome type II: a hypothesis". Am. J. Med. ... by congenital neural deafness and a severe or extreme piebald-like phenotype with extensive areas of hypopigmentation. A locus ... It has been suggested that it is a form of Waardenburg syndrome type II. Albinism Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo ... July 1990). "Genetic mapping of X-linked albinism-deafness syndrome (ADFN) to Xq26.3-q27.I". Am. J. Hum. Genet. 47 (1): 20-7. ...
In some cases, piebaldism occurs together with severe developmental problems, as in Waardenburg syndrome and Hirschsprung's ... All who inherit the gene have at some time in life evidence of piebald hypopigmentation of the hair or skin, most likely both. ... Waardenburg syndrome, and related disorders of melanocyte development". Seminars in Cutaneous Medicine and Surgery. 16 (1): 15- ... The National Organization of Albinism and Hypopigmentation, as well as organizations such as Under the Same Sun, work to ...
For example, mutations of MITF have been implicated in both Waardenburg syndrome and Tietz syndrome. ... "Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF". J. Med. Genet. 37 (6): 446-8. doi:10.1136/jmg.37.6.446 ... Waardenburg syndrome, and Tietz syndrome.[10] Its function is conserved across vertebrates, including in fishes such as ... Waardenburg syndrome is a rare genetic disorder. Its symptoms include deafness, minor defects, and abnormalities in ...
Rapp-Hodgkin syndrome/Hay-Wells syndrome/Ectrodactyly-ectodermal dysplasia-cleft syndrome 3/Limb-mammary syndrome/OFC8 ... "hyperimmunoglobulinemia E syndrome" at Dorland's Medical Dictionary *^ Dermatologic Manifestations of Job Syndrome at eMedicine ... Hyperimmunoglobulinemia E syndrome[1] (HIES), of which the autosomal dominant form is called Job's syndrome[1] or Buckley ... Waardenburg syndrome 4c. *Yemenite deaf-blind hypopigmentation syndrome. 4.11. *Cleidocranial dysostosis. (0) Other ...
Rapp-Hodgkin syndrome/Hay-Wells syndrome/Ectrodactyly-ectodermal dysplasia-cleft syndrome 3/Limb-mammary syndrome/OFC8 ... Waardenburg syndrome 4c. *Yemenite deaf-blind hypopigmentation syndrome. 4.11. *Cleidocranial dysostosis. (0) Other ... Androgen insensitivity syndrome[edit]. Main article: Androgen insensitivity syndrome. In contrast to EIS, androgen ... Estrogen insensitivity syndrome (EIS), or estrogen resistance, is a form of congenital estrogen deficiency or hypoestrogenism[2 ...
Rapp-Hodgkin syndrome/Hay-Wells syndrome/Ectrodactyly-ectodermal dysplasia-cleft syndrome 3/Limb-mammary syndrome/OFC8 ... Kabuki syndrome (also previously known as Kabuki-makeup syndrome (KMS) or Niikawa-Kuroki syndrome) is a congenital disorder of ... Dr Niikawa coined the term 'Kabuki syndrome' (also known as Kabuki make-up syndrome or Niikawa-Kuroki syndrome) as a reference ... Kabuki syndrome is one of the Mendelian disorders of epigenetic machinery.[8] Most cases of Kabuki syndrome occur de novo, that ...
Waardenburg syndrome 4c. *Yemenite deaf-blind hypopigmentation syndrome. 4.11. *Cleidocranial dysostosis. (0) Other ... Rapp-Hodgkin syndrome/Hay-Wells syndrome/Ectrodactyly-ectodermal dysplasia-cleft syndrome 3/Limb-mammary syndrome/OFC8 ... This syndrome is also known as the sarcoma, breast, leukaemia and adrenal gland (SBLA) syndrome. ... OSLAM syndrome. References[edit]. *^ Custódio G; et al. (July 2013). "Impact of neonatal screening and surveillance for the ...
EDNRB (ABCD syndrome, Waardenburg syndrome 4a, Hirschsprung's disease 2). *AVPR2 (Nephrogenic diabetes insipidus 1) ... FGFR1 (Pfeiffer syndrome, KAL2 Kallmann syndrome). *FGFR2 (Apert syndrome, Antley-Bixler syndrome, Pfeiffer syndrome, Crouzon ... Rapp-Hodgkin syndrome/Hay-Wells syndrome/Ectrodactyly-ectodermal dysplasia-cleft syndrome 3/Limb-mammary syndrome/OFC8 ... In addition, although these conditions do not alter fertility per se, individuals with Rett syndrome or Aicardi syndrome rarely ...
... syndrome Yellow nail syndrome Yemenite deaf-blind hypopigmentation syndrome Yentl Syndrome Yim-Ebbin syndrome Young's syndrome ... Vulvodynia Waardenburg syndrome WAGR syndrome Walker-Warburg syndrome Wallis-Zieff-Goldblatt syndrome Waltman Walter syndrome ... syndrome Wende-Bauckus syndrome Werner syndrome Wernicke-Korsakoff syndrome West syndrome Westerhof syndrome Wet lung syndrome ... syndrome Shone's syndrome Short anagen syndrome Short bowel syndrome short limb syndrome Short man syndrome Short QT syndrome ...
Waardenburg syndrome, vitiligo, Chédiak-Higashi syndrome, isabellinism, and Melanophilin mutations. Pale patches of skin, ... More common than a complete absence of pigment cells is localized or incomplete hypopigmentation, resulting in irregular ... Waardenburg syndrome at Atlas of Genetics and Cytogenetics in Oncology and Haematology (archived 26 December 2005, from the ...
... and PAX3 interactions are thought to be regulators of other genes involved in the symptoms of Waardenburg syndrome, ... "A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different ... Mutations in this gene are associated with Waardenburg-Shah syndrome and uveal melanoma. SOX10 is used as an ... The interaction between SOX10 and PAX3 is studied best in human patients with Waardenburg syndrome, an autosomal dominant ...
Mutations in MITF are known to cause Waardenburg syndrome type 2 and Tietz syndrome, which result in depigmentation and ... who notice child patients who present with recurrent unexplained gingivitis and periodontitis along with hypopigmentation of ... Griscelli syndrome (also known as "Chédiak-Higashi like syndrome") Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. ( ... "Chédiak-Higashi syndrome". Merck Manuals. Retrieved 2008-03-01. "Chediak Higashi syndrome". Retrieved 2008-11-06. Falus A, ...
Vasospastic macule Vitiligo Vitiligo ponctué Vogt-Koyanagi-Harada syndrome Waardenburg syndrome Wende-Bauckus syndrome (Pegum ... Cross syndrome, oculocerebral-hypopigmentation syndrome) Dermatopathia pigmentosa reticularis (dermatopathia pigmentosa ... Turner syndrome Ulnar-mammary syndrome Van Der Woude syndrome Von Hippel-Lindau syndrome Watson syndrome Werner syndrome (adult ... Freeman-Sheldon syndrome, Windmill-Vane-Hand syndrome) Wilson-Turner syndrome Wolf-Hirschhorn syndrome (4p- syndrome) X-linked ...
Rapp-Hodgkin syndrome/Hay-Wells syndrome/Ectrodactyly-ectodermal dysplasia-cleft syndrome 3/Limb-mammary syndrome/OFC8 ... Waardenburg syndrome 4c. *Yemenite deaf-blind hypopigmentation syndrome. 4.11. *Cleidocranial dysostosis. (0) Other ...
Rapp-Hodgkin syndrome/Hay-Wells syndrome/Ectrodactyly-ectodermal dysplasia-cleft syndrome 3/Limb-mammary syndrome/OFC8 ... Waardenburg syndrome 4c. *Yemenite deaf-blind hypopigmentation syndrome. 4.11. *Cleidocranial dysostosis. (0) Other ... Most cases of genetic deafness (70% to 80%) are nonsyndromic; the remaining cases are caused by specific genetic syndromes. In ...
A number of causes are responsible, including genetic, such as chimerism, Horner's syndrome and Waardenburg syndrome. A chimera ... The gene OCA2 (OMIM: 203200), when in a variant form, causes the pink eye color and hypopigmentation common in human albinism ...
Waardenburg syndrome, or other depigmentation conditions such as vitiligo. These conditions result from fundamentally different ... "Information Bulletin - What is Albinism?". National Organization for Albinism and Hypopigmentation. January 27, 2018. Retrieved ...
Oculocutaneous albinism (Hermansky-Pudlak syndrome). *Waardenburg syndrome. Tyrosine→Norepinephrine. *Dopamine beta hydroxylase ... Postinflammatory hypopigmentation. *Pityriasis alba. *Vagabond's leukomelanoderma. *Yemenite deaf-blind hypopigmentation ... Also known as Nettleship-Falls syndrome,[4][5][6] is the most common variety of ocular albinism. OA1 is usually associated with ... Also known as Forsius-Eriksson syndrome[8][9] or "Åland Island eye disease", mostly affects males, though females are often ...
Rapp-Hodgkin syndrome/Hay-Wells syndrome/Ectrodactyly-ectodermal dysplasia-cleft syndrome 3/Limb-mammary syndrome/OFC8 ... Waardenburg syndrome 4c. *Yemenite deaf-blind hypopigmentation syndrome. 4.11. *Cleidocranial dysostosis. (0) Other ...
Disease states associated with carotenoderma include hypothyroidism, diabetes mellitus, anorexia nervosa, nephrotic syndrome, ... Postinflammatory hypopigmentation. *Pityriasis alba. *Vagabond's leukomelanoderma. *Yemenite deaf-blind hypopigmentation ... In the nephrotic syndrome, the hypercarotenemia is related to the associated increased serum lipids, similar to the above ... Alezzandrini syndrome. *Vogt-Koyanagi-Harada syndrome. Melanocyte. development. *Piebaldism. *Waardenburg syndrome. *Tietz ...
Alezzandrini syndrome. *Vogt-Koyanagi-Harada syndrome. Melanocyte. development. *Piebaldism. *Waardenburg syndrome. *Tietz ... Postinflammatory hypopigmentation. *Pityriasis alba. *Vagabond's leukomelanoderma. *Yemenite deaf-blind hypopigmentation ...
Peutz-Jeghers syndrome[edit]. This rare genetic disorder is characterized by the development of macules with Hyperpigmentation ... Postinflammatory hypopigmentation. *Pityriasis alba. *Vagabond's leukomelanoderma. *Yemenite deaf-blind hypopigmentation ... Alezzandrini syndrome. *Vogt-Koyanagi-Harada syndrome. Melanocyte. development. *Piebaldism. *Waardenburg syndrome. *Tietz ...
Oculocutaneous albinism (Hermansky-Pudlak syndrome). *Waardenburg syndrome. Tyrosine→Norepinephrine. *Dopamine beta hydroxylase ... The disease may present clinically with seizures, hypopigmentation (excessively fair hair and skin), and a "musty odor" to the ...
Conclusions: Waardenburg syndrome manifests hypopigmentation of the iris and choroid with imaging features of slight reduction ... Waardenburg Syndrome: Iris and Choroidal Hypopigmentation findings on Anterior and Posterior Segment Imaging ... Waardenburg Syndrome: Iris and Choroidal Hypopigmentation findings on Anterior and Posterior Segment Imaging ... Purpose: To demonstrate iris and choroidal hypopigmentation in Waardenburg syndrome (WS) with high resolution ocular imaging ...
Kallmann syndrome and deafness with or without hypopigmentation. Waardenburg syndrome type 2E with or without neurologic ... Waardenburg syndrome type IIE. WS2E with or without neurologic involvement. Keywords. › Waardenburg syndrome. › Kallmann ... Hypogonadotropic hypogonadism with anosmia and deafness with or without hypopigmentation. ...
Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF. J Med Genet 2003;37:446-8. ... WS3 or Klein-Waardenburg syndrome is similar to WS1, but includes upper limb abnormalities. WS4 or Waardenburg-Shah syndrome ... Waardenburg syndrome type 3 (Klein-Waardenburg syndrome) segregating with a heterozygous deletion in the paired box domain of ... Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome ...
WAARDENBURG SYNDROME. Waardenburg syndrome is characterised by heterochromic irides and congenital hypopigmentation of the ... Prader-Willi syndrome and Angelman syndrome. Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are both due to a ... There are various genetic forms of Waardenburg syndrome that express subtle phenotype distinctions.73 Waardenburg syndrome ... Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome ...
Waardenburg syndrome. More than 35 mutations in the MITF gene have been identified in people with Waardenburg syndrome type II ... Smith SD, Kelley PM, Kenyon JB, Hoover D. Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF. J Med Genet. ... Researchers suggest that Tietz syndrome may be a severe form of Waardenburg syndrome (described below). ... Tietz syndrome. At least two MITF gene mutations have been identified in people with Tietz syndrome, which is characterized by ...
Waardenburg-Klein syndrome.. *Canine cyclic hematopoiesis Cyclic hematopoiesis.. *Tyrosinase deficiency.. Hypopigmentation - ...
Waardenburg-Shah syndrome: Patients have a sensorineural hearing deficit and hypopigmentation of the iris and hair. ... 23] It may be associated with the following syndromes:. * Down syndrome: Trisomy 21 is characterized by physical growth delays ... Yemenite deaf-blind syndrome: Affected patients have a mutation in the SRY-related HMG-box gene. The syndrome is characterized ... Congenital central hypoventilation syndrome (CCHS): CCHS is characterized by absent autonomic control of ventilation. PHOX2B ...
type II Waardenburg syndrome (WS2) (MIM.193510). * Tietz hypopigmentation-deafness syndrome (MIM.103500) ... Waardenburg Syndrome type 2A.. MITF is an amplified oncogene in a fraction of human melanomas and that it also has an oncogenic ...
In humans, MITF mutations cause Waardenburg syndrome type 2A (WS2A) and Tietz syndrome, autosomal dominant disorders resulting ... Mitf mutant mice serve as an important model system for the study of two human deafness and hypopigmentation disorders, WS2A ... 1994 Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene. Nat. Genet. 8: 251-255. ... 1995 The mutational spectrum in Waardenburg Syndrome. Hum. Mol. Genet. 4: 2131-2137. ...
"A review of genetic disorders of hypopigmentation: lessons learned from the biology of melanocytes". Exp Dermatol. vol. 18. ... Waardenburg syndrome, and the albinism-deafness syndrome.) Farrer, LA, Grundfast, KM, Amos, J. "Waardenburg syndrome (WS) type ... Waardenburg syndrome (ICD-9-CM 270.2). Are You Confident of the Diagnosis?. Waardenburgs syndrome (WS) was first described in ... including Waardenburgs syndrome, piebaldism, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, oculocutaneous albinism and ...
... hypopigmentation and deafness occur together in the rare Waardenburgs syndrome, predominantly observed among the Hopi in North ... Albino Albinism in biology Griscelli syndrome, a syndrome characterised by hypopigmentation Human skin color Melanin theory ... However, a lack of melanin per se does not appear to be directly responsible for deafness associated with hypopigmentation, as ...
We report the first case of Waardenburg syndrome type 4C and Kallmann syndrome in the same person. The patient, a Japanese girl ... iris hypopigmentation, and hyperthyroidism. Ann. Clin. Lab Sci. 48, 248-252 (2018). ... A novel SOX10 variant in a Japanese girl with Waardenburg syndrome type 4C and Kallmann syndrome. *Junpei Hamada. ORCID: orcid. ... We report the first case of Waardenburg syndrome type 4C and Kallmann syndrome in the same person. The patient, a Japanese girl ...
Defects in MITF are a cause of Waardenburg syndrome type 2 with ocular albinism (WS2-OA) [MIM:103470]. It is an ocular albinism ... It is an autosomal dominant disorder characterized by generalized hypopigmentation and profound, congenital, bilateral deafness ... Defects in MITF are the cause of Waardenburg syndrome type 2A (WS2A) [MIM:193510]. It is a dominant inherited disorder ... Defects in MITF are the cause of Tietz syndrome (TIETZS) [MIM:103500]. ...
Waardenburg syndrome (WS) is described as "the combination of sensorineural hearing loss, hypopigmentation of skin and hair, ... This helped them distinguish forms of Waardenburg syndrome. Their evaluation consisted of specifying Waardenburg syndrome type ... brought about the idea of Waardenburg syndrome when he examined two deaf twins. Waardenburg decided to define the syndrome with ... According to a dictionary of dermatologic syndromes, Waardenburg syndrome has many notable features, including "depigmentation ...
Direct regulation of the Microphthalmia promoter by Sox10 links Waardenburg-Shah syndrome (WS4)-associated hypopigmentation and ... Tassabehji, M., Newton, V. E. and Read, A. P. (1994). Waardenburg syndrome type 2 caused by mutations in the human ... Watanabe, A., Takeda, K., Ploplis, B. and Tachibana, M. (1998). Epistatic relationship between Waardenburg syndrome genes MITF ... Transcription factor hierarchy in Waardenburg syndrome: regulation of MITF expression by SOX10 and PAX3. Hum. Genet. 107,1 -6. ...
Direct regulation of the microphthalmia promoter by Sox10 links Waardenburg-Shah syndrome (WS4)-associated hypopigmentation and ... Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome ...
Tietz syndrome is a disorder characterized by profound hearing loss from birth, fair skin, and light-colored hair. Explore ... Researchers suggest that Tietz syndrome may represent a severe form of a disorder called Waardenburg syndrome, which can also ... Smith SD, Kelley PM, Kenyon JB, Hoover D. Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF. J Med Genet. ... Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome). Clin Dysmorphol. 1998 Jan;7(1):17-20. Citation on ...
Shields CL, Nickerson SJ, Al-Dahmash S and Shields JA: Waardenburg syndrome: Iris and choroidal hypopigmentation: Findings on ... Waardenburg PJ: A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects ... Akal A, Göncü T, Boyaci N and Yilmaz ÖF: Anisometropic amblyopia in a case of type 2 Waardenburg syndrome. BMJ Case Rep. 2013( ... Meire F, Standaert L, De Laey JJ and Zeng LH: Waardenburg syndrome, Hirschsprung megacolon, and Marcus Gunn ptosis. Am J Med ...
Intratympanic steroid use for hearing salvage in Vogt-Koyanagi-Harada syndrome.(ORIGINAL ARTICLE, Report) by Ear, Nose and ... The most common of hereditary disorders affecting melanocytes is Waardenburg syndrome, which is an autosomal dominant condition ... marked by SNHL, skin and hair hypopigmentation (piebaldism), and heterochromia iridis. These integumentary and auditory ... VKH syndrome is another disease that occurs as a result of an autoimmune destruction of melanocytes. It is most prevalent in ...
There are other congenital hypopigmentation disorders, such as Waardenburg syndrome, which resemble albinism but are distinct ... There are other congenital hypopigmentation disorders, such as Waardenburg syndrome, which resemble albinism but are distinct ... Chediak-Higashi Syndrome (CHS), Hermansky-Pudlak Syndrome (HPS), and Griscelli Syndrome (GS).. ICD-10 classification: E70.3. ... Chediak-Higashi Syndrome (CHS), Hermansky-Pudlak Syndrome (HPS), and Griscelli Syndrome (GS). CHS and HPS have extra-pigmentary ...
Infantile nystagmus syndrome. Sensoric nystagmus. Manifest/latent nystagmus. Spasmus nutans. Onset of nystagmus. 3-4 months. 3- ... Waardenburg) [20]. Although four genes are known to cause autosomal recessive form, it seems that, only in one-third of the ... if the hypopigmentation is present only in the eyes, it is called ocular albinism (OA) [22]. Pigments have multiple functions ... The defect can be present as an isolated form or, less frequently, as a part of the syndromes (Chediak-Higashi, Hermansky- ...
White forelock, cutaneous hypopigmentation, hypertelorism, heterochromia. Waardenburg syndrome. Retinitis pigmentosa, obesity, ... certain syndromes (e.g., Pendred syndrome, Waardenburg syndrome, Usher syndrome) and chromosomal abnormalities (e.g., trisomy ... abnormalities and a DNA test should be considered in children who have the phenotypic appearance of fragile X syndrome. An ... syndromes). Sensorineural hearing loss is typically most severe in the higher frequencies. ...
... syndrome such as Waardenburg syndrome, Sturge-Weber syndrome, Parry-Romberg syndrome, or Horners syndrome. Treatment for the ... Infection is a related issue to this autosomal recessive syndrome. People who have this not only have hypopigmentation of the ... Waardenburg syndrome - The Waardenburg syndrome types I and II are linked to the central or complete heterochromia. This is ... Sturge-Weber syndrome - A gene mutation (GNAQ gene) is episodic in the event of the Sturge-Weber syndrome. The resulting ...
Klein-Waardenburg Syndrome - defective PAX gene. - all of the tissues involved in KWS are derived from embryonic tissue in ... pigmentary abnormalities (frontal white blaze of hair, patchy HYPOpigmentation of skin, heterochromia irides). - congenital ... if one inherits a paternal chromosome in which this region has been deleted, will get Prade-WIlli syndrome. - can also result ... summary: limb abnormalities, congenital deafness, facial anomalies, HYPOpigmentation of skin, white frontal hair) ...
Direct regulation of the Microphthalmia promoter by Sox10 links Waardenburg-Shah syndrome (WS4)-associated hypopigmentation and ... Potterf SB, Furumura M, Dunn KJ, Arnheiter H, Pavan WJ: Transcription factor hierarchy in Waardenburg syndrome: regulation of ... The human patients of Waardenburg-Shah syndrome with mutations in Sox10 show strikingly similar phenotypes to heterozygous ... SOX10 mutations in patients with Waardenburg-Hirschsprung disease. Nat Genet. 1998, 18: 171-173. 10.1038/ng0298-171. ...
Apert syndrome Pfeiffer syndrome Jackson-Weiss syndrome Crouzon syndrome Wa... ... Waardenburg syndrome: iris and choroidal hypopigmentation: findings on anterior and posterior segment imaging. JAMA Ophthalmol ... Type IV Waardenburg syndrome (Hirschsprung syndrome) results from mutations in either (1) the SOX10 gene, which maps to band ... Sensorineural deafness can be extensive in patients with Waardenburg syndromes and Hirschsprung syndrome but is usually minimal ...
Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene. Nat Genet 1994;8:251-5. ... characterized by hypopigmentation and defects in ectodermal development (7), while murine homozygous TFEB knockouts fail to ... Early studies into the function of these transcription factors identified that mutations in MITF led to Waardenburg syndrome ... Molecular genetics and clinical features of Birt-Hogg-Dube syndrome. Nat Rev Urol 2015;12:558-69. ...
Waardenburgs syndrome may be closely related to piebaldism. Klein-Waardenburg Syndrome refers to a disorder that also includes ... Waardenburgs Syndrome: Rare, autosomal dominant disease with variable penetrance and several known clinical types. ... fundus hypopigmentation, residual white forelock and sensory neural hearing loss--findings consistent with Waardenburg syndrome ... Waardenburg Syndrome; Klein Syndrome; Kleins Syndrome; Waardenburg-Klein Syndrome; Klein Waardenburg Syndrome; Kleins Syndrome ...
... the combination is observed in Waardenburg syndrome type 2 (W2), which exhibits distinctive hypopigmentation of skin and hair ... 1995 Waardenburg syndrome type II: phenotypic findings and diagnostic criteria. Am. J. Med. Genet. 55: 95-100. ... 2010 Review and update of mutations causing Waardenburg syndrome. Hum. Mutat. 31: 391-406. ... haploinsufficiency in the Mitf gene mimics human Waardenburg syndrome type 2. Hum. Mol. Genet. 7: 703-708. ...
Waardenburg syndrome), morphea (localized scleroderma, in which skin is usually sclerotic), lichen sclerosus, pityriasis ... Focal hypopigmentation or depigmentation is also a feature of vitiligo (which may involve large areas of skin), leprosy, ... In hypopigmentation, pigment is decreased, whereas in depigmentation, pigment is completely lost, leaving white skin. ... Pigmentation disorders involve hypopigmentation, depigmentation, or hyperpigmentation. Areas may be focal or diffuse. ...
  • Objectives Till date, mutations in the genes PAX3 and MITF have been described in Waardenburg syndrome (WS), which is clinically characterised by congenital hearing loss and pigmentation anomalies. (bmj.com)
  • MITF 3-bp deletions at amino acid position 217 have previously been described in patients with Tietz syndrome (TS), a clinical entity with hearing loss and generalised hypopigmentation. (bmj.com)
  • At least two MITF gene mutations have been identified in people with Tietz syndrome, which is characterized by profound hearing loss from birth, fair skin, and light-colored hair. (medlineplus.gov)
  • The MITF gene mutations that cause Tietz syndrome either delete or change a single protein building block (amino acid) in the basic motif region of the melanocyte inducing transcription factor structure. (medlineplus.gov)
  • More than 35 mutations in the MITF gene have been identified in people with Waardenburg syndrome type II, a disorder that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes. (medlineplus.gov)
  • Mutations of the MITF gene are associated with the autosomal dominant hereditary deafness and pigmentation condition, Waardenburg Syndrome type 2A. (humpath.com)
  • In humans, MITF mutations cause Waardenburg syndrome type 2A (WS2A) and Tietz syndrome, autosomal dominant disorders resulting in deafness and hypopigmentation. (genetics.org)
  • Defects in MITF are the cause of Waardenburg syndrome type 2A (WS2A) [MIM:193510]. (abcam.com)
  • Chen H, Jiang L, Xie Z, Mei L, He C, Hu Z, Xia K and Feng Y: Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome. (spandidos-publications.com)
  • Cortés-González V, Zenteno JC, Guzmán-Sánchez M, Giordano-Herrera V, Guadarrama-Vallejo D, Ruíz-Quintero N and Villanueva-Mendoza C: Tietz/Waardenburg type 2A syndrome associated with posterior microphthalmos in two unrelated patients with novel MITF gene mutations. (spandidos-publications.com)
  • Tietz syndrome is caused by mutations in the MITF gene. (medlineplus.gov)
  • Researchers suggest that Tietz syndrome may represent a severe form of a disorder called Waardenburg syndrome , which can also be caused by MITF gene mutations. (medlineplus.gov)
  • Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome). (medlineplus.gov)
  • Grill C, Bergsteinsdóttir K, Ogmundsdóttir MH, Pogenberg V, Schepsky A, Wilmanns M, Pingault V, Steingrímsson E. MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function. (medlineplus.gov)
  • Izumi K, Kohta T, Kimura Y, Ishida S, Takahashi T, Ishiko A, Kosaki K. Tietz syndrome: unique phenotype specific to mutations of MITF nuclear localization signal. (medlineplus.gov)
  • The Wh(V203) mutation in the Syrian hamster affects the same functional domains of the Mitf transcription factor as the human R124X mutation, causing human Waardenburg syndrome type II. (curehunter.com)
  • By analyzing the genes for Waardenburg syndrome, we showed that PAX3, the gene responsible for Waardenburg syndrome type 1, regulates MITF, the gene responsible for Waardenburg syndrome type 2. (curehunter.com)
  • Early studies into the function of these transcription factors identified that mutations in MITF led to Waardenburg syndrome type II, characterized by hypopigmentation and defects in ectodermal development ( 7 ), while murine homozygous TFEB knockouts fail to develop due to lack of placental vascularization ( 8 ). (aacrjournals.org)
  • Tietze syndrome is allelic to WS2 with heterozygous mutations within the MITF gene described in affected individuals. (mhmedical.com)
  • [9] In human subjects, because it is known that MITF controls the expression of various genes that are essential for normal melanin synthesis in melanocytes, mutations of MITF can lead to diseases such as melanoma , Waardenburg syndrome , and Tietz syndrome . (wikipedia.org)
  • For example, mutations of MITF have been implicated in both Waardenburg syndrome and Tietz syndrome . (wikipedia.org)
  • [13] Mutations in the MITF gene have been found in certain patients with Waardenburg syndrome, type II. (wikipedia.org)
  • Defects in MITF are a cause of Waardenburg syndrome type 2 with ocular albinism (WS2-OA) [MIM:103470]. (abcam.co.jp)
  • Defects in MITF are the cause of Tietz syndrome (TIETZS) [MIM:103500]. (abcam.co.jp)
  • Mutations in MITF are associated with auditory-pigmentary syndromes such as Waardenburg syndrome [ 6 ] and Tietz syndrome [ 7 , 8 ] and result in hearing loss and depigmentation of the hair and skin. (biomedcentral.com)
  • SOX10 and PAX3 interactions are thought to be regulators of other genes involved in the symptoms of Waardenburg syndrome, particularly MITF which influences the development of melanocytes as well as neural crest formation. (wikidoc.org)
  • This shortage leads to hearing loss and the patchy loss of pigmentation associated with Waardenburg syndrome. (medlineplus.gov)
  • Waardenburg syndrome (WS), a rare autosomal dominant disorder, is characterized by sensorineural hearing loss and pigmentation abnormalities of the hair, irises and skin 1 . (nature.com)
  • Müllner-Eidenböck A, Moser E, Frisch H and Read AP: Waardenburg syndrome type 2 in a Turkish family: Implications for the importance of the pattern of fundus pigmentation. (spandidos-publications.com)
  • The Dominant White locus ( W ) in the domestic cat demonstrates pleiotropic effects exhibiting complete penetrance for absence of coat pigmentation and incomplete penetrance for deafness and iris hypopigmentation. (g3journal.org)
  • Pigmentation disorders involve hypopigmentation, depigmentation, or hyperpigmentation. (merckmanuals.com)
  • As a result, pigment cells (melanocytes) do not develop in certain areas of the skin, hair, eyes, and inner ear, which leads to the hearing loss and patchy loss of pigmentation that are characteristic features of Waardenburg syndrome. (cdc.gov)
  • Waardenburg syndrome (WS) is a group of genetic conditions characterized by varying degrees of hearing loss and differences in the coloring (pigmentation) of the eyes, hair, and skin. (cdc.gov)
  • Waardenburg syndrome (also Waardenburg Shah Syndrome , Waardenburg-Klein syndrome ) is a rare genetic disorder most often characterized by varying degrees of deafness , minor defects in structures arising from the neural crest , and pigmentation anomalies. (worldheritage.org)
  • Clinical manifestations include various degrees of congenital nystagmus, iris hypopigmentation and translucency, reduced pigmentation of the retinal pigment epithelium, foveal hypoplasia, reduced visual acuity usually (20/60 to 20/400) and refractive errors, color vision impairment and prominent photophobia. (biomedcentral.com)
  • Waardenburg syndrome is a disorder of pigmentation, sensorineural deafness, and a characteristic facial (nasal root) morphology. (arizona.edu)
  • Albinism is classified into two subtypes, non-syndromic albinism, with symptoms restricted to impaired melanin biosynthesis (hypopigmentation of skin and hair and ocular changes such as reduced pigmentation of the iris, nystagmus, impaired visual acuity, and foveal hypoplasia), and syndromic albinism, which displays various non-pigmentary symptoms including bleeding diathesis, lung fibrosis, and immunodeficiency. (springer.com)
  • Type IV Waardenburg syndrome (Hirschsprung syndrome) results from mutations in either (1) the SOX10 gene, which maps to band 22q13, or (2) the EDN3 gene, which maps to band 20q13.2-q13.3. (medscape.com)
  • Apert, Pfeiffer, Jackson-Weiss, and Crouzon syndromes result from mutations in the fibroblast growth factor receptor-2 ( FGFR2 ) gene, which maps to band 10q25-q26. (medscape.com)
  • Some patients with Pfeiffer syndrome have demonstrated mutations in the fibroblast growth factor receptor-1 ( FGFR1 ) gene, which maps to band 8p11.2-12. (medscape.com)
  • Hirschsprung syndrome type 2 results from mutations in the endothelin-B receptor ( EDNRB ) gene, which maps to band 13q22. (medscape.com)
  • Specific mutations of c- KIT correlate with the severity (ie, extent) of the cutaneous hypopigmentation. (medscape.com)
  • Waardenburg syndrome type 1 (WS1), Waardenburg syndrome type 2 (WS2), and Waardenburg syndrome type 3 (WS3) are transmitted in an autosomal dominant manner, while Waardenburg syndrome type 4 (WS4) is inherited either as an autosomal recessive condition, with mutations within the endothelin-3 ( EDN3 ) or endothelin-B receptor ( EDNRB ) genes, or as an autosomal dominant condition with heterozygous mutations within the SRY-related HMG-box 10 ( SOX10 ) gene. (mhmedical.com)
  • Waardenburg syndrome type 1 is caused by mutations in the PAX3 gene . (cdc.gov)
  • In addition, these mutations disrupt the development of certain craniofacial bones, causing the widely spaced eyes that are unique to Waardenburg syndrome type 1. (cdc.gov)
  • PAX3 mutations and clinical characteristics in Chinese patients with Waardenburg syndrome type 1. (docphin.com)
  • Wang J, Li S, Xiao X, Wang P, Guo X, Zhang Q. PAX3 mutations and clinical characteristics in Chinese patients with Waardenburg syndrome type 1. (docphin.com)
  • To detect paired box gene 3 (PAX3) mutations and associated phenotypes in Chinese patients with Waardenburg syndrome type 1 (WS1). (docphin.com)
  • This type of Waardenburg syndrome is distinguished from type 1 and 3 ( 193500 ) by the fact that it is caused by mutations in a different gene and in the absence of dystopia canthorum. (arizona.edu)
  • Waardenburg syndrome is an excellent example of genetic heterogeneity as types 1 and 3 ( 193500 , 148820 ), 2 ( 193510 ), and 4 ( 277580 ) are all caused by mutations in different genes. (arizona.edu)
  • Hypopigmentation in the scalp hair, eyebrows and eyelashes was more severe than usually seen in patients with single mutations. (arizona.edu)
  • Pingault V, Ente D, Dastot-Le Moal F, Goossens M, Marlin S, Bondurand N. Review and update of mutations causing Waardenburg syndrome . (arizona.edu)
  • BackgroundWaardenburg syndrome type I WS1, an auditory-pigmentary genetic disorder, is caused by heterozygous loss-of-function mutations in PAX3. (duhnnae.com)
  • All of these pathogenic mechanisms but BRAF mutations have been rarely described to involve the entire organism, causing syndromes featuring multiple GISTs and peculiar associated signs. (biomedcentral.com)
  • The interaction between SOX10 and PAX3 is studied best in human patients with Waardenburg syndrome , an autosomal dominant disorder which is divided into four different types based upon mutations in additional genes. (wikidoc.org)
  • Mutations of the receptor gene are responsible for Hirschsprung disease type 2, a multigenic disorder with phenotypes such as bicolored irides, megacolon, hypopigmentation, and hearing loss. (novusbio.com)
  • Waardenburg's syndrome may be closely related to piebaldism. (curehunter.com)
  • Piebaldism [MIM 172800] is an autosomal dominant condition that has a clinical phenotype similar to that of Waardenburg syndrome. (mhmedical.com)
  • hereditary ( Piebaldism, Waardenburg's syndrome, Vogt-Koyanagi-Harada syndrome, Alezzandrini's syndrome, Tuberous sclerosis) or acquired like vitiligo, resoluting alopecia areata, or inflammatory processes which damage melanocytes, for example herpes zoster or X-irradiation. (globalskinatlas.com)
  • Piebald Trait, also known as piebaldism , is related to griscelli syndrome and griscelli syndrome, type 2 . (malacards.org)
  • Waardenburg syndrome (WS) is described as "the combination of sensorineural hearing loss, hypopigmentation of skin and hair, and pigmentary disturbances of the irides. (wikipedia.org)
  • Waardenburg PJ: A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness. (spandidos-publications.com)
  • Waardenburg syndrome types 1 to 4 are a group of auditory-pigmentary syndromes that comprise sensorineural hearing loss (due to the absence of melanocytes in the stria vascularis of the cochlea), and hypomelanosis of the eyes, hair, and/or skin. (mhmedical.com)
  • Auditory-pigmentary syndromes are caused by physical absence of melanocytes from the skin, hair, eyes, or the stria vascularis of the cochlea. (ning.com)
  • Waardenburg syndrome type 4 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the eye, deafness, and Hirschsprung disease (review by Read and Newton, 1997 ). (mendelian.co)
  • Waardenburg syndrome (WS) is an auditory-pigmentary disorder characterized by congenital sensorineural hearing loss and pigmentary abnormalities of the iris, skin and hair, and with dystopia canthorum. (centogene.com)
  • In addition to hearing impairment and renal disease, a variety of ocular lesions and defects are common in patients with Alport syndrome, including anterior lenticonus (congenital condition of the lens in which the surface is conical), progressive distortion of the lens, and pigmentary changes. (phtmodules.net)
  • Pigmentary mosaicism This condition is characterized by areas of hypopigmentation following the lines of Blaschko. (mhmedical.com)
  • Waardenburg Syndrome, Type 4 C - SOX10 Sequencing. (mendelian.co)
  • Melanoblasts from the neural crest might be affected along with cells from the same lineage, such as occurs in Waardenberg and Waardenberg-Hirschsprung syndrome where the melanocyte fails to populate certain areas during embryogenesis. (bmj.com)
  • Meire F, Standaert L, De Laey JJ and Zeng LH: Waardenburg syndrome, Hirschsprung megacolon, and Marcus Gunn ptosis. (spandidos-publications.com)
  • Type 4 is also known as Waardenburg‐Shah syndrome (association of Waardenburg syndrome with Hirschsprung disease). (worldheritage.org)
  • Type IV (also known as Waardenburg-Shah syndrome) has signs and symptoms of both Waardenburg syndrome and Hirschsprung disease, an intestinal disorder that causes severe constipation of the intestine. (centogene.com)
  • Type IV Waardenburg syndrome (Shah-Waardenburg syndrome) is the association of Waardenburg syndrome with congenital aganglionic megacolon (Hirschsprung disease) 5 . (centogene.com)
  • citation needed] No longer considered a separate syndrome, ABCD syndrome is today considered to be a variation of Shah-Waardenburg type IV. (wikipedia.org)
  • citation needed] New findings introduced an important break in the beliefs about ABCD syndrome because the endothelin B gene is a gene involved in Shah-Waardenburg syndrome. (wikipedia.org)
  • The major clinical features of Waardenburg syndrome are very heterogeneous and may vary among affected individuals and even among people in the same affected family 1 . (centogene.com)
  • The features of Waardenburg syndrome affect an estimated 1 in 20,000-40,000 people. (centogene.com)
  • [14] The shortage of melanocytes causes some of the characteristic features of Waardenburg syndrome. (wikipedia.org)
  • It has been claimed that hearing loss is more common and severe in type 2 (77%) as is heterochromia of the iris (47%) while skin and hair hypopigmentation are less common. (arizona.edu)
  • The degree of skin and hair hypopigmentation varies with the type of OCA. (biomedcentral.com)
  • Klein-Waardenburg Syndrome refers to a disorder that also includes upper limb abnormalities. (curehunter.com)
  • Craniofacial-deafness-hand syndrome [MIM 122880] is an autosomal dominant condition with characteristic facial features, profound sensorineural hearing loss, and radiologic abnormalities of the maxilla, nasal bones, and hands. (mhmedical.com)
  • Type III Waardenburg syndrome (Klein-Waardenburg syndrome) is similar to type I but is also characterized by musculoskeletal abnormalities 3,4 . (centogene.com)
  • [3] Many patients with autosomal dominant STAT3 hyper-IgE syndrome have characteristic facial and dental abnormalities, fail to lose their primary teeth, and have two sets of teeth simultaneously. (wikipedia.org)
  • STAT3 may present as HIES with characteristic facial, dental, and skeletal abnormalities [7] that has been called Job's Syndrome . (wikipedia.org)
  • Autosomal dominant Hyper-IgE Syndrome caused by STAT3 defects, called Job Syndrome, have characteristic facial, dental, and skeletal abnormalities. (wikipedia.org)
  • Down syndrome is caused by a chromosomal abnormality (Trisomy 21) and is often associated with mental retardation, congenital heart disease, gastrointestinal abnormalities, respiratory difficulties, myopia, and other visual impairment. (phtmodules.net)
  • This spectrum of disorders is also known as Goldenhar syndrome, or Hemifacial Microsoma, and is characterized by facial asymmetry, ocular findings, auricular abnormalities, and vertebral changes. (phtmodules.net)
  • Marshall syndrome is thought to be uniquely characterized by ectodermal abnormalities, orbital hypertelorism (excessive width between the eyes), and reduced sweat production. (phtmodules.net)
  • Normal females have two X chromosomes, but in Turner syndrome, one of those sex chromosomes is missing or has other abnormalities. (blogspot.com)
  • ABCD syndrome is the acronym for albinism, black lock of hair, cell migration disorder of the neurocytes of the gut, and sensorineural deafness. (wikipedia.org)
  • Non-congenital, sensorineural deafness very frequently, though not always, accompanies the nephropathy of Alport syndrome. (phtmodules.net)
  • Kallmann syndrome (KS) is a clinically and genetically heterogeneous disorder defined by hypogonadotropic hypogonadism (HH) and olfactory dysfunction. (nature.com)
  • The C of ABCD syndrome is what distinguishes this genetic disorder from BADS and it involves cell migration disorder of the neurocytes of the gut. (wikipedia.org)
  • Tietz syndrome is a disorder characterized by profound hearing loss from birth, fair skin, and light-colored hair. (medlineplus.gov)
  • Waardenburg syndrome is a rare autosomal dominant disorder characterized by patchy depigmentation, sensorineural hearing loss, and other developmental defects (Psora/ Syphilis). (ning.com)
  • Waardenburg syndrome is a rare genetic disorder. (wikipedia.org)
  • Tietz syndrome, first described in 1923, is a congenital disorder often characterized by deafness and leucism. (wikipedia.org)
  • It is an autosomal dominant disorder characterized by generalized hypopigmentation and profound, congenital, bilateral deafness. (abcam.co.jp)
  • Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles, Nat. (genedx.com)
  • Examples of this type of disorder are Huntington's disease , [9] neurofibromatosis type 1 , neurofibromatosis type 2 , Marfan syndrome , hereditary nonpolyposis colorectal cancer , hereditary multiple exostoses (a highly penetrant autosomal dominant disorder), Tuberous sclerosis , Von Willebrand disease , and acute intermittent porphyria . (thehitchhikersgui.de)
  • Examples of this type of disorder are Albinism , Medium-chain acyl-CoA dehydrogenase deficiency , cystic fibrosis , sickle-cell disease , Tay-Sachs disease , Niemann-Pick disease , spinal muscular atrophy , and Roberts syndrome . (thehitchhikersgui.de)
  • Cri du chat syndrome, also known as chromosome 5p deletion syndrome, 5p minus syndrome or Lejeune's syndrome, is a rare genetic disorder due to a missing part of chromosome 5. (blogspot.com)
  • Oculocutaneous albinism (OCA) is the most common inherited disorder of generalized hypopigmentation , with an estimated frequency of 1 in 20,000 in most populations. (dermaamin.com)
  • A rare genetic oculocutaneous disorder characterized by profound congenital sensorineural hearing loss in association with moderate to severe hypopigmentation of the ocular fundus, blue irides or partial heterochromia, and patchy or generalized hypopigmentation of the skin. (cdc.gov)
  • The ocular features (n=7 patients) included telecanthus in 5 (71%), synophrys in 2 (29%), iris hypopigmentation in 5 (71%), and choroidal hypopigmentation in 5 (71%) patients. (arvojournals.org)
  • Iris hypopigmentation was not symmetric in any patient whereas choroidal hypopigmentation was symmetric in 4 of 5 (80%) affected patients. (arvojournals.org)
  • Iris hypopigmentation showed minimal correlation with choroidal hypopigmentation. (arvojournals.org)
  • Waardenburg syndrome manifests hypopigmentation of the iris and choroid with imaging features of slight reduction in thickness of affected tissue. (arvojournals.org)
  • Any patient with iris or choroidal hypopigmentation should be evaluated for this syndrome. (arvojournals.org)
  • Ophthalmological evaluations revealed ptosis (1/5), strabismus 1 (1/5), synophrys (2/5), telecanthus (5/5), iris hypopigmentation (5/5), high intraocular pressure (1/5) and choroidal hypopigmentation (1/5). (spandidos-publications.com)
  • Shields CL, Nickerson SJ, Al-Dahmash S and Shields JA: Waardenburg syndrome: Iris and choroidal hypopigmentation: Findings on anterior and posterior segment imaging. (spandidos-publications.com)
  • Waardenburg syndrome type 1 is a genetic condition characterized by eyes that appear widely spaced, congenital hearing loss , and patchy pigment disturbances of the iris, hair and skin. (cdc.gov)
  • The latter may be partial in individual irides, or the entire iris in one eye with the fundus hypopigmentation often matching the iris pattern. (arizona.edu)
  • Dominantly inherited examples with patchy depigmentation are usually labelled Waardenburg syndrome (WS). (ning.com)
  • Si bien su diagnóstico por medio de parámetros histológicos suele ser sencillo en la mayoría de los casos, la distinción entre un melanoma y un nevo melanocítico puede suponer un reto en ocasiones, sobre todo cuando las características histopatológicas y clínicas se solapan. (actasdermo.org)
  • Defective melanoblast development and function underlies many disorders including Waardenburg syndrome and melanoma. (nih.gov)
  • Researchers in the past 20 years have determined that a gene mutation, specifically a homozygous mutation in the EDNRB gene, is the cause of ABCD syndrome. (wikipedia.org)
  • This specialized testing enables geneticists to recognize the gene mutation that is the cause of ABCD syndrome. (wikipedia.org)
  • Discovering that the same gene is involved in both ABCD and Waardenburg syndrome was important because researchers could look further into ways to fix this crucial gene. (wikipedia.org)
  • Pendred syndrome is associated with abnormal iodine metabolism due to a mutation in the PDS gene on chromosome 7q. (statpearls.com)
  • Mutation in a novel gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico, Nat. (genedx.com)
  • An important gene associated with Ocular Albinism is TYR (Tyrosinase), and among its related pathways/superpathways are Melanogenesis and Cushing syndrome . (malacards.org)
  • Such epistatic relationships have been shown between other genes related to Waardenburg syndrome, and likely to construct a cascade. (curehunter.com)
  • Waardenburg syndrome has also been associated with a variety of other congenital disorders , such as intestinal and spinal defects, elevation of the scapula , and cleft lip and palate . (worldheritage.org)
  • [15] Genetic testing is available for STAT3 ( Job's Syndrome ), DOCK8 ( DOCK8 Immunodeficiency or DIDS) , PGM3 ( PGM3 deficiency ), SPINK5 ( Netherton Syndrome - NTS), and TYK2 genetic defects. (wikipedia.org)
  • Rarely, however, GIST-prone syndromes occur, mostly depending on heritable GIST predisposing molecular defects involving the entire organism. (biomedcentral.com)
  • The primary treatment for symptoms associated with VKH syndrome is systemic corticosteroids. (thefreelibrary.com)
  • We describe the case of a patient with VKH syndrome who received two intratympanic steroid injections and experienced subsequent improvement of her ipsilateral auditory symptoms. (thefreelibrary.com)
  • Treatment with up to very high doses of estradiol (fourteen 100-μg Estraderm patches per week) had no effect on any of his symptoms of hypoestrogenism , did not produce any estrogenic effects such as gynecomastia , and had no effect on any of his physiological parameters (e.g., hormone levels or bone parameters), suggesting a profile of complete estrogen insensitivity syndrome. (wikipedia.org)
  • Diagnosis is based on clinical findings of hypopigmentation of the skin and hair, in addition to the characteristic ocular symptoms. (biomedcentral.com)
  • Progeria (also known as "Hutchinson-Gilford Progeria Syndrome", "Hutchinson-Gilford syndrome" and "Progeria syndrome" is an extremely rare genetic condition wherein symptoms resembling aspects of aging are manifested at an early age. (blogspot.com)
  • Although the term progeria applies strictly speaking to all diseases characterized by premature aging symptoms, and is often used as such, it is often applied specifically in reference to Hutchinson-Gilford Progeria Syndrome (HGPS). (blogspot.com)
  • A reduced number of melanocytes can lead to hearing loss, and decreased melanin production can account for the light skin and hair color that make Tietz syndrome so noticeable. (wikipedia.org)
  • Oculocutaneous albinism (OCA) is a group of four autosomal recessive disorders caused by either a complete lack or a reduction of melanin biosynthesis in the melanocytes resulting in hypopigmentation of the hair, skin and eyes. (biomedcentral.com)
  • The most common form of albinism is oculocutaneous albinism (OCA), caused by a reduction of melanin biosynthesis in the melanocytes resulting in hypopigmentation of the hair, skin, and eyes 1 . (centogene.com)
  • Decreased melanin production (hypopigmentation) accounts for the light skin and hair color that are characteristic of Tietz syndrome. (medlineplus.gov)
  • In simple terms, Hypopigmentation in the skin is as a result of a decrease in melanin production. (hypophil.com)
  • Sub-types: oculocutaneous albinism (OCA) types 1, 2, 3 and 4, ocular albinism (OA), Chediak-Higashi Syndrome (CHS), Hermansky-Pudlak Syndrome (HPS), and Griscelli Syndrome (GS). (clinuvel.com)
  • Our report highlights how an accurate clinical examination with noninvasive methods, like trichoscopy, may play a crucial rule in diagnosis of rare and potentially lethal genetic syndromes such as Griscelli syndrome, in which timely diagnosis and therapy may modify the clinical course, quality of life, and likelihood of survival. (mdpi.com)
  • Specifically, the term GHS encloses a rare group of autosomal recessive disorders including Griscelli syndrome (GS), Chediak-Higashi syndrome (CHS), Elejalde syndrome (ES), and Oculocerebral hypopigmentation syndrome, Cross type (OHS). (mdpi.com)
  • Differential diagnosis includes ocular albinism, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, Griscelli syndrome, and Waardenburg syndrome type II. (biomedcentral.com)
  • 1993). Syndromic albinism encompasses many heterogeneous conditions including Hermansky-Pudlak syndrome (HPS), Chediak-Higashi syndrome (CHS), and Griscelli syndrome (GS). (springer.com)
  • Usher syndrome is responsible for six to ten percent of cases involving hereditary hearing loss and over fifty percent of all cases of deafblindness. (phtmodules.net)
  • Well over 400 genetic syndromes that include hearing loss have been described. (mhmedical.com)
  • It is most commonly encountered in association with obesity and type 2 diabetes though may be a component of a number of genetic syndromes. (medicbind.com)
  • In fact, the presence of anterior lenticonus is strongly suggestive of a diagnosis of Alport syndrome. (phtmodules.net)
  • 277580}).For a description of other clinical variants of Waardenburg syndrome, see WS1 ( OMIM ), WS2 ( OMIM ), and WS3 ( OMIM ). (mendelian.co)
  • 193510}).For a description of other clinical variants of Waardenburg syndrome, see WS1 ( OMIM ), WS3 ( OMIM ), and WS4 ( OMIM ). (mendelian.co)
  • The degree of hypopigmentation varies from partial hypopigmentation as in case of skin injury to complete hypopigmentation as seen in vitiligo. (hypophil.com)
  • Another common sign of hypopigmentation is vitiligo. (hypophil.com)
  • The tyrosinase promoter is a principle target of the melanocyte transcription factor Microphthalmia (Mi), a factor for which deficiency in humans causes Waardenburg syndrome II. (curehunter.com)
  • Estrogen insensitivity syndrome ( EIS ), or estrogen resistance , is a form of congenital estrogen deficiency or hypoestrogenism [2] which is caused by a defective estrogen receptor (ER) - specifically, the estrogen receptor alpha (ERα) - that results in an inability of estrogen to mediate its biological effects in the body. (wikipedia.org)
  • This article seeks to review the current state of knowledge of albinism and associated disorders of hypopigmentation. (bmj.com)
  • Type I Waardenburg syndrome is characterized by evidence of dystopia canthorum and the full symptomatology of the disease 1 . (centogene.com)
  • Individuals with type II Waardenburg syndrome are a heterogeneous group with normally located canthi (without dystopia canthorum). (centogene.com)
  • Abnormal physical signs such as dystopia canthorum, patchy hypopigmentation and sensorineural hearing loss are common, but short stature is not associated with WS1. (duhnnae.com)
  • Kadoi C, Hayasaka S and Yamamoto S: Branch retinal vein occlusion in a patient with Waardenburg syndrome. (spandidos-publications.com)
  • Type I Usher syndrome is characterized by congenital severe to profound hearing impairment, progressive retinal degeneration beginning in childhood, and vestibular dysfunction. (phtmodules.net)
  • Type II Usher syndrome is characterized by moderate to severe hearing impairment, typical vestibular functioning, and a later onset of retinal degeneration. (phtmodules.net)
  • Images of human patients with Waardenburg syndrome type 2 show a phenotype remarkably similar to horses with splashed white. (colorgenetics.info)
  • Representative results include: (1) identification of the underlying factors, (epi)genotype-phenotype correlations in Silver-Russell syndrome, and detection of mosaic upd(11)mat, (2) identification of epimutations and clarification of (epi)genetic mechanisms and clinical features in Temple syndrome, and (3) determination of detailed clinical features, establishment of clinical diagnostic guideline and molecular diagnostic approach in Kagami-Ogata syndrome. (nii.ac.jp)
  • c Turner syndrome or Ullri h-Turner syndrome (also known as "Gonadal dysgenesis":550), 45 XO, encompasses several conditions in human females, of which monosomy X (absence of an entire sex chromosome, the Barr body) is most common. (blogspot.com)
  • The cutaneous hypopigmentation in albinism ranges from complete absence of melanin to a minimal reduction in skin and hair colour. (bmj.com)
  • Although people with Tietz syndrome are born with white hair and very pale skin, their hair color often darkens over time to blond or red. (medlineplus.gov)
  • On the other hand, small amounts or no melanin at all causes the skin to become lighter, which is called hypopigmentation. (hypophil.com)
  • Good skin care is also important in patients with hyper IgE syndrome. (wikipedia.org)
  • The term does not reflect the cause of hypopigmentation , which may be the result of decreased epidermal melanin content or secondary to a decreased blood supply to the skin. (mhmedical.com)
  • Albinism is a generic clinical term that describes conditions characterized by hypopigmentation of skin, hair, and eyes or eyes alone of affected individuals. (springer.com)
  • OCA is characterized by hypopigmentation of skin and hair and ocular changes. (springer.com)
  • OA is restricted to ocular changes that significantly overlap with those of OCA, although some individuals with OA may display mild to moderate hypopigmentation of skin and eyes compared to unaffected male siblings (Lewis RA. (springer.com)
  • Researchers suggest that Tietz syndrome may be a severe form of Waardenburg syndrome (described below). (medlineplus.gov)
  • Tietz syndrome also affects the eyes. (medlineplus.gov)
  • EIS is analogous to androgen insensitivity syndrome (AIS), a condition in which the androgen receptor (AR) is defective and insensitive to androgens , such as testosterone and dihydrotestosterone (DHT). (wikipedia.org)
  • Androgen insensitivity syndrome ( AIS ) is an intersex condition that results in the partial or complete inability of the cell to respond to androgens . (wikivividly.com)
  • mild androgen insensitivity syndrome (MAIS) is indicated when the external genitalia are that of a normal male, and partial androgen insensitivity syndrome (PAIS) is indicated when the external genitalia are partially, but not fully, masculinized. (wikivividly.com)
  • Androgen insensitivity syndrome is the largest single entity that leads to 46,XY undermasculinized genitalia . (enacademic.com)
  • complete androgen insensitivity syndrome (CAIS), partial androgen insensitivity syndrome (PAIS), and mild androgen insensitivity syndrome (MAIS). (enacademic.com)
  • We report the first case of Waardenburg syndrome type 4C and Kallmann syndrome in the same person. (nature.com)
  • Hermansky-Pudlak syndrome (HPS) is rare except in the Caribbean island of Puerto Rico, particularly in the northwestern region where the majority of patients are found, and has an incidence there of 1 in 1800. (dermaamin.com)
  • High frequency of Hermansky-Pudlak syndrome type 1 (HPS1) among Japanese albinism patients and functional analysis of HPS1 mutant protein. (springer.com)
  • Christianson syndrome is a very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures. (mendelian.co)
  • Chediak-Higashi and Hermansky-Pudlak syndromes are disease examples. (bmj.com)
  • 1) Data on the potential utility of intratympanic steroids in autoimmune inner ear disease are limited to small case series, and no study has reported their use in VKH syndrome. (thefreelibrary.com)
  • The severity of renal disease varies with regard to the type of Alport syndrome and the sex of the individual. (phtmodules.net)
  • Individuals with Down syndrome are at increased risk for early onset Alzheimer's disease, as well as leukemia and leukemoid reactions. (phtmodules.net)