Albinism, Oculocutaneous: 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.Albinism, Ocular: 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.Albinism: General term for a number of inherited defects of amino acid metabolism in which there is a deficiency or absence of pigment in the eyes, skin, or hair.Monophenol Monooxygenase: An enzyme of the oxidoreductase class that catalyzes the reaction between L-tyrosine, L-dopa, and oxygen to yield L-dopa, dopaquinone, and water. It is a copper protein that acts also on catechols, catalyzing some of the same reactions as CATECHOL OXIDASE. EC 1.14.18.1.Hermanski-Pudlak Syndrome: Syndrome characterized by the triad of oculocutaneous albinism (ALBINISM, OCULOCUTANEOUS); PLATELET STORAGE POOL DEFICIENCY; and lysosomal accumulation of ceroid lipofuscin.Hypopigmentation: 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.Melanosomes: Melanin-containing organelles found in melanocytes and melanophores.Eye Color: Color of the iris.Melanocytes: 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.Nystagmus, Pathologic: Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272)Skin Pigmentation: Coloration of the skin.Membrane Transport Proteins: Membrane proteins whose primary function is to facilitate the transport of molecules across a biological membrane. Included in this broad category are proteins involved in active transport (BIOLOGICAL TRANSPORT, ACTIVE), facilitated transport and ION CHANNELS.Pedigree: 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.Eye ProteinsChondrodysplasia Punctata: A heterogeneous group of bone dysplasias, the common character of which is stippling of the epiphyses in infancy. The group includes a severe autosomal recessive form (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC), an autosomal dominant form (Conradi-Hunermann syndrome), and a milder X-linked form. Metabolic defects associated with impaired peroxisomes are present only in the rhizomelic form.Nystagmus, Congenital: Nystagmus present at birth or caused by lesions sustained in utero or at the time of birth. It is usually pendular, and is associated with ALBINISM and conditions characterized by early loss of central vision. Inheritance patterns may be X-linked, autosomal dominant, or recessive. (Adams et al., Principles of Neurology, 6th ed, p275)Pigmentation: Coloration or discoloration of a part by a pigment.Electronystagmography: Recording of nystagmus based on changes in the electrical field surrounding the eye produced by the difference in potential between the cornea and the retina.Catechol Oxidase: An enzyme of the oxidoreductase class that catalyzes the reaction between catechol and oxygen to yield benzoquinone and water. It is a complex of copper-containing proteins that acts also on a variety of substituted catechols. EC 1.10.3.1.Genetic Diseases, X-Linked: Genetic diseases that are linked to gene mutations on the X CHROMOSOME in humans (X CHROMOSOME, HUMAN) or the X CHROMOSOME in other species. Included here are animal models of human X-linked diseases.Chediak-Higashi Syndrome: A form of phagocyte bactericidal dysfunction characterized by unusual oculocutaneous albinism, high incidence of lymphoreticular neoplasms, and recurrent pyogenic infections. In many cell types, abnormal lysosomes are present leading to defective pigment distribution and abnormal neutrophil functions. The disease is transmitted by autosomal recessive inheritance and a similar disorder occurs in the beige mouse, the Aleutian mink, and albino Hereford cattle.Mutation: 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.Membrane Glycoproteins: Glycoproteins found on the membrane or surface of cells.Ichthyosis: Any of several generalized skin disorders characterized by dryness, roughness, and scaliness, due to hypertrophy of the stratum corneum epidermis. Most are genetic, but some are acquired, developing in association with other systemic disease or genetic syndrome.Melanins: Insoluble polymers of TYROSINE derivatives found in and causing darkness in skin (SKIN PIGMENTATION), hair, and feathers providing protection against SUNBURN induced by SUNLIGHT. CAROTENES contribute yellow and red coloration.Hair Color: Color of hair or fur.Puerto Rico: An island in the Greater Antilles in the West Indies. Its capital is San Juan. It is a self-governing commonwealth in union with the United States. It was discovered by Columbus in 1493 but no colonization was attempted until 1508. It belonged to Spain until ceded to the United States in 1898. It became a commonwealth with autonomy in internal affairs in 1952. Columbus named the island San Juan for St. John's Day, the Monday he arrived, and the bay Puerto Rico, rich harbor. The island became Puerto Rico officially in 1932. (From Webster's New Geographical Dictionary, 1988, p987 & Room, Brewer's Dictionary of Names, 1992, p436)Kallmann Syndrome: A genetically heterogeneous disorder caused by hypothalamic GNRH deficiency and OLFACTORY NERVE defects. It is characterized by congenital HYPOGONADOTROPIC HYPOGONADISM and ANOSMIA, possibly with additional midline defects. It can be transmitted as an X-linked (GENETIC DISEASES, X-LINKED), an autosomal dominant, or an autosomal recessive trait.Platelet Storage Pool Deficiency: Disorder characterized by a decrease or lack of platelet dense bodies in which the releasable pool of adenine nucleotides and 5HT are normally stored.Oxidoreductases: The class of all enzymes catalyzing oxidoreduction reactions. The substrate that is oxidized is regarded as a hydrogen donor. The systematic name is based on donor:acceptor oxidoreductase. The recommended name will be dehydrogenase, wherever this is possible; as an alternative, reductase can be used. Oxidase is only used in cases where O2 is the acceptor. (Enzyme Nomenclature, 1992, p9)Pigment Epithelium of Eye: The layer of pigment-containing epithelial cells in the RETINA; the CILIARY BODY; and the IRIS in the eye.Folklore: The common orally transmitted traditions, myths, festivals, songs, superstitions, and stories of all peoples.Frameshift Mutation: A type of mutation in which a number of NUCLEOTIDES deleted from or inserted into a protein coding sequence is not divisible by three, thereby causing an alteration in the READING FRAMES of the entire coding sequence downstream of the mutation. These mutations may be induced by certain types of MUTAGENS or may occur spontaneously.DNA Mutational Analysis: Biochemical identification of mutational changes in a nucleotide sequence.X Chromosome: The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.Molecular Sequence Data: 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.Polymorphism, Single-Stranded Conformational: Variation in a population's DNA sequence that is detected by determining alterations in the conformation of denatured DNA fragments. Denatured DNA fragments are allowed to renature under conditions that prevent the formation of double-stranded DNA and allow secondary structure to form in single stranded fragments. These fragments are then run through polyacrylamide gels to detect variations in the secondary structure that is manifested as an alteration in migration through the gels.Homozygote: An individual in which both alleles at a given locus are identical.Membrane Proteins: Proteins which are found in membranes including cellular and intracellular membranes. They consist of two types, peripheral and integral proteins. They include most membrane-associated enzymes, antigenic proteins, transport proteins, and drug, hormone, and lectin receptors.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Exons: The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.Dictionaries, MedicalPhotophobia: Abnormal sensitivity to light. This may occur as a manifestation of EYE DISEASES; MIGRAINE; SUBARACHNOID HEMORRHAGE; MENINGITIS; and other disorders. Photophobia may also occur in association with DEPRESSION and other MENTAL DISORDERS.Encyclopedias as Topic: Works containing information articles on subjects in every field of knowledge, usually arranged in alphabetical order, or a similar work limited to a special field or subject. (From The ALA Glossary of Library and Information Science, 1983)Color Vision Defects: Defects of color vision are mainly hereditary traits but can be secondary to acquired or developmental abnormalities in the CONES (RETINA). Severity of hereditary defects of color vision depends on the degree of mutation of the ROD OPSINS genes (on X CHROMOSOME and CHROMOSOME 3) that code the photopigments for red, green and blue.Melanosis: Disorders of increased melanin pigmentation that develop without preceding inflammatory disease.Transillumination: Passage of light through body tissues or cavities for examination of internal structures.Lutein: A xanthophyll found in the major LIGHT-HARVESTING PROTEIN COMPLEXES of plants. Dietary lutein accumulates in the MACULA LUTEA.Sensory Aids: Devices that help people with impaired sensory responses.Vision, Low: Vision considered to be inferior to normal vision as represented by accepted standards of acuity, field of vision, or motility. Low vision generally refers to visual disorders that are caused by diseases that cannot be corrected by refraction (e.g., MACULAR DEGENERATION; RETINITIS PIGMENTOSA; DIABETIC RETINOPATHY, etc.).Pigmentation Disorders
Oculocutaneous Albinism Archived 2008-12-23 at the Wayback Machine. "Ocular Manifestations of Albinism" "Causes of Variability ... Another form of Albinism, the "yellow oculocutaneous albinism", appears to be more prevalent among the Amish, who are of ... Ocular albinism affects not only eye pigmentation but visual acuity, as well. People with albinism typically test poorly, ... "oculocutaneous albinism". Genetics Home Reference. Retrieved 2017-09-25. Meredith, Paul; Sarna, Tadeusz (2006-12-01). "The ...
"Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism". N. Engl. J. Med ... Oculocutaneous albinism caused by mutations in the OCA2 gene is called oculocutaneous albinism type 2. The prevalence of OCA ... "Oculocutaneous albinism type 2". Orphanet. Retrieved 2014-11-09. "OCA2 - oculocutaneous albinism II". Genetics Home Reference ... Certain mutations in OCA2 result in type 2 oculocutaneous albinism. OCA2 encodes the human homologue of the mouse p (pink-eyed ...
... and optic neuronal defects shared in all types of oculocutaneous and ocular albinism". The Alabama Journal of Medical Sciences ... GeneReviews/NCBI/NIH/UW entry on Oculocutaneous Albinism Type 1 Tyrosinase at the US National Library of Medicine Medical ... A mutation in the tyrosinase gene resulting in impaired tyrosinase production leads to type I oculocutaneous albinism, a ... Witkop CJ (Oct 1979). "Albinism: hematologic-storage disease, susceptibility to skin cancer, ...
... and ocular affecting the eyes only. There are different types of oculocutaneous albinism depending on which gene has undergone ... An exception to this is ocular albinism, which it is passed on to offspring through X-linked inheritance. Thus, ocular albinism ... The other end of the spectrum of albinism is "a form of albinism called rufous oculocutaneous albinism, which usually affects ... GeneReview/NCBI/NIH/UW entry on Oculocutaneous Albinism Type 2 GeneReview/NCBI/NIH/UW entry on Oculocutaneous Albinism Type 4. ...
"Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism" by Lee, S.-T., ...
... albinism MeSH C18.452.648.066.102.090 --- albinism, ocular MeSH C18.452.648.066.102.100 --- albinism, oculocutaneous MeSH ...
... albinism MeSH C16.320.290.040.090 --- albinism, ocular MeSH C16.320.290.040.100 --- albinism, oculocutaneous MeSH C16.320. ... albinism MeSH C16.320.565.066.102.090 --- albinism, ocular MeSH C16.320.565.066.102.100 --- albinism, oculocutaneous MeSH ... albinism MeSH C16.320.850.080.090 --- albinism, ocular MeSH C16.320.850.080.100 --- albinism, oculocutaneous MeSH C16.320. ...
... albinism MeSH C17.800.621.440.102.090 --- albinism, ocular MeSH C17.800.621.440.102.100 --- albinism, oculocutaneous MeSH ... albinism MeSH C17.800.827.080.090 --- albinism, ocular MeSH C17.800.827.080.100 --- albinism, oculocutaneous MeSH C17.800. ...
Ocular albinism Oculocutaneous albinism Pallister-Killian syndrome Periorbital hyperpigmentation Photoleukomelanodermatitis of ... Albinism-black lock-cell migration disorder of the neurocytes of the gut-deafness syndrome (ABCD syndrome) Albinism-deafness ... ocular pemphigus, scarring pemphigoid) Dermatitis herpetiformis (Duhring disease) Endemic pemphigus (endemic pemphigus ... partial albinism with immunodeficiency) Griscelli syndrome type 3 Hemochromatosis (bronze diabetes) Hemosiderin ...
... albinism MeSH C11.270.040.090 --- albinism, ocular MeSH C11.270.040.545 --- albinism, oculocutaneous MeSH C11.270.040.545.400 ... ocular MeSH C11.294.725.781 --- toxoplasmosis, ocular MeSH C11.294.800 --- eye infections, viral MeSH C11.294.800.250 --- ... ocular MeSH C11.294.354.900 --- uveitis, suppurative MeSH C11.294.354.900.350 --- endophthalmitis MeSH C11.294.354.900.675 --- ...
... it usually refers to mild variants of oculocutaneous albinism rather than ocular albinism, which is X-linked. "Ocular albinism ... Ocular albinism is a form of albinism which, in contrast to oculocutaneous albinism, presents primarily in the eyes. There are ... Sex-linked ocular albinism displaying typical fundal changes in the female heterozygote. American Journal of Ophthalmology, ... ISBN 0-7216-2921-0. Hutton SM, Spritz RA (March 2008). "A comprehensive genetic study of autosomal recessive ocular albinism in ...
"Ocular Manifestations of Albinism", by Dr. Mohammed O. Peracha, at eMedicine, 13 September 2005; retrieved 31 March 2007 " ... Oculocutaneous albinism (OCA) is a form of albinism involving the eyes (oculo-), the skin (-cutaneous), and according to some ... "Oculocutaneous albinism - Genetics Home Reference". http://ghr.nlm.nih.gov/condition/oculocutaneous-albinism http://www.orpha. ... Four types of oculocutaneous albinism have been described, all caused by a disruption of melanin synthesis and all autosomal ...
Albinism may manifest itself as oculocutaneous (OCA) or just ocular (OA). There occur at least ten different types of OCA and ... Ocular albinism type 1 (OA1), also called Nettleship-Falls syndrome, is the most common type of ocular albinism, with a ... Ocular albinism results from defects in the melanin system, which may arise from either defects in the OA1 receptor, or ... Samaraweera, P., Shen, B., Newton, J.M., Barsh, G.S. and Orlow, S.J. (2001). The mouse ocular albinism 1 gene product is an ...
Albinism deafness syndrome Albinism immunodeficiency Albinism ocular late onset sensorineural deafness Albinism oculocutaneous ... Hermansky-Pudlak type Albinism, minimal pigment type Albinism, ocular Albinism, yellow mutant type Albinism Albinoidism ... ocular motor, Cogan type Apraxia Apudoma Aqueductal stenosis Aqueductal stenosis, X linked Arachindonic acid, absence of ...
Oculocutaneous albinism type 1 Oculocutaneous albinism type 2 Oculocutaneous albinism type 3 Oculocutaneous albinism, ... Ocular albinism Ocular coloboma-imperforate anus Ocular convergence spasm Ocular histoplasmosis Ocular melanoma Ocular motility ... tyrosinase negative Oculocutaneous albinism, tyrosinase positive Oculocutaneous tyrosinemia Oculodental syndrome Rutherfurd ... Oculocerebral syndrome with hypopigmentation Oculocerebrocutaneous syndrome Oculocerebrorenal syndrome Oculocutaneous albinism ...
Albinism. *Oculocutaneous albinism. *Ocular albinism. Melanosome. transfer. *Hermansky-Pudlak syndrome. *Chédiak-Higashi ... The syndrome is associated with oculocutaneous albinism. Persons are prone for infections, especially with Staphylococcus ... Associated features include abnormalities in melanocytes (albinism), nerve defects, bleeding disorders.. Treatment[edit]. There ... People with CHS have light skin and silvery hair (albinism) and frequently complain of solar sensitivity and photophobia. Other ...
Albinism. *Oculocutaneous albinism. *Ocular albinism. Melanosome. transfer. *Hermansky-Pudlak syndrome. *Chédiak-Higashi ...
ATP7A Ocular albinism, type I, Nettleship-Falls type; 300500; GPR143 Oculoauricular syndrome; 612109; HMX1 Oculocutaneous ... TYRP1 Albinism, oculocutaneous, type IA; 203100; TYR Albinism, oculocutaneous, type IB; 606952; TYR Albinism, oculocutaneous, ... MITF Waardenburg syndrome/albinism, digenic; 103470; TYR Waardenburg syndrome/ocular albinism, digenic; 103470; MITF Wagner ... CACNA1F Albinism, brown oculocutaneous; 203200; OCA2 Albinism, brown; 203290; ...
Albinism Oculocutaneous albinism (ILDS E70.310) Partial albinism (ILDS E70.312) Oculocutaneous albinism type 1 (tyrosinase- ... Other ocular manifestations of vitamin A deficiency Xerophthalmia NOS (E51) Thiamine deficiency (E51.1) Beriberi (E51.2) ... negative) (ILDS E70.314) Oculocutaneous albinism type 2 (tyrosinase positive) (ILDS E70.314) Albinoidism (ILDS E70.318) ...
January 2006). "Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations ... Preoperative hematology consultation is advisable prior to elective ocular surgeries. Since patients with the syndrome have ... Davies, Bh; Tuddenham, Eg (April 1976). "Familial pulmonary fibrosis associated with oculocutaneous albinism and platelet ... is an extremely rare autosomal recessive disorder which results in oculocutaneous albinism (decreased pigmentation), bleeding ...
Ocular Manifestations of Albinism at eMedicine *^ Wallow; Albert (1997). "The color of the human eye: a review of morphologic ... The name of the gene is derived from the disorder it causes, oculocutaneous albinism type II.) Different SNPs within OCA2 are ... Ocular albinism and eye color. Normally, there is a thick layer of melanin on the back of the iris. Even people with the ... NOAH - What is Albinism? Archived 14 May 2012 at the Wayback Machine. Albinism.org. Retrieved on 23 December 2011. ...
Occasionally, the color of the iris is due to a lack of pigmentation, as in the pinkish-white of oculo-cutaneous albinism, or ... The term is therefore not used in medicine for ocular albinism, in which the eye is otherwise healthy despite an obviously red ... Heterochromia (also known as a heterochromia iridis or heterochromia iridum) is an ocular condition in which one iris is a ... it is often an indicator of ocular disease, such as chronic iritis or diffuse iris melanoma, but may also occur as a normal ...
Albinism: Ocular albinism (1). *Oculocutaneous albinism (Hermansky-Pudlak syndrome). *Waardenburg syndrome. Tyrosine→ ... Ocular problems related to the disorder include strabismus, nystagmus, retinitis, disc pallor, and oculomotor apraxia.[4] ... The symptoms of SSADH deficiency fall into three primary categories: neurological, psychiatric, and ocular. The most constant ...
Albinism: Ocular albinism (1). *Oculocutaneous albinism (Hermansky-Pudlak syndrome). *Waardenburg syndrome. Tyrosine→ ... Tyrosinemia type II (Oculocutaneous tyrosinemia,[1] Richner-Hanhart syndrome[1]:543) is an autosomal recessive condition with ...
Albinism: Ocular albinism (1). *Oculocutaneous albinism (Hermansky-Pudlak syndrome). *Waardenburg syndrome. Tyrosine→ ...
... is a form of albinism which, in contrast to oculocutaneous albinism, presents primarily in the eyes.[1] There are multiple forms of ocular albinism, which are clinically similar.[2]:865. Both known genes are on the X chromosome. When the term "autosomal recessive ocular albinism" ("AROA") is used, it usually refers to mild variants of oculocutaneous albinism rather than ocular albinism, which is X-linked.[3]. ...
Heřmanský-Pudlák syndrome (often written Hermansky-Pudlak syndrome or abbreviated HPS) is an extremely rare autosomal recessive disorder which results in oculocutaneous albinism (decreased pigmentation), bleeding problems due to a platelet abnormality (platelet storage pool defect), and storage of an abnormal fat-protein compound (lysosomal accumulation of ceroid lipofuscin). It is considered to affect around 1 in 500,000 people worldwide, with a significantly higher occurrence in Puerto Ricans, with a prevalence of 1 in 1800. Many of the clinical research studies on the disease have been conducted in Puerto Rico. There are eight classic forms of the disorder, based on the genetic mutation from which the disorder stems. There are three main disorders caused by Hermansky-Pudlak syndrome, which result in these symptoms: Albinism and eye problems: Individuals will have varying amounts of skin pigment (melanin). Because of the ...
Tyrosinase-related protein 1, also known as TYRP1, is an enzyme which in humans is encoded by the TYRP1 gene. Tyrp1 is a melanocyte-specific gene product involved in melanin synthesis. While mouse Tyrp1 possesses dihydroxyindole carboxylic acid oxidase activity, the function in human melanocytes is less clear. In addition to its role in melanin synthesis, Tyrp1 is involved in stabilizing of tyrosinase protein and modulating its catalytic activity. Tyrp1 is also involved in maintenance of melanosome structure and affects melanocyte proliferation and melanocyte cell death. Mutations in the mouse Tyrp1 gene are associated with brown pelage and in the human TYRP1 gene with oculocutaneous albinism type 3 (OCA3). An allele of TYRP1 common in Solomon Islanders results in blond hair. Although the phenotype is similar to Northern European blond hair, this allele is not found in Europeans. The expression of TYRP1 is regulated by the microphthalmia-associated ...
Membrane-associated transporter protein (MATP) also known as solute carrier family 45 member 2 (SLC45A2) or melanoma antigen AIM1 is a protein that in humans is encoded by the SLC45A2 gene. SLC45A2 is a transporter protein that mediates melanin synthesis. SLC45A2 is also a melanocyte differentiation antigen that is expressed in a high percentage of melanoma cell lines. A similar sequence gene in medaka fish, 'B,' encodes a transporter that mediates melanin synthesis. Mutations in this gene are a cause of oculocutaneous albinism type 4. Alternative splicing results in multiple transcript variants encoding different isoforms. In melanocytic cell types, the SLC45A2 gene is regulated by microphthalmia-associated transcription factor. SLC45A2 has been found to play a role in pigmentation in several species. In humans, it has been identified as a factor in the light skin of Europeans and as an ancestry-informative marker (AIM) for distinguishing Sri Lankan from ...
... is an oxidase that is the rate-limiting enzyme for controlling the production of melanin. The enzyme is mainly involved in two distinct reactions of melanin synthesis; firstly, the hydroxylation of a monophenol and secondly, the conversion of an o-diphenol to the corresponding o-quinone. o-Quinone undergoes several reactions to eventually form melanin. Tyrosinase is a copper-containing enzyme present in plant and animal tissues that catalyzes the production of melanin and other pigments from tyrosine by oxidation, as in the blackening of a peeled or sliced potato exposed to air. It is found inside melanosomes which are synthesised in the skin melanocytes. In humans, the tyrosinase enzyme is encoded by the TYR gene. A mutation in the tyrosinase gene resulting in impaired tyrosinase production leads to type I oculocutaneous albinism, a hereditary disorder that affects one in every 20,000 people. Tyrosinase activity is very important. If uncontrolled ...
... in humans is a congenital disorder characterized by the complete or partial absence of pigment in the skin, hair and eyes. Albinism is associated with a number of vision defects, such as photophobia, nystagmus, and amblyopia. Lack of skin pigmentation makes for more susceptibility to sunburn and skin cancers. In rare cases such as Chédiak-Higashi syndrome, albinism may be associated with deficiencies in the transportation of melanin granules. This also affects essential granules present in immune cells leading to increased susceptibility to infection. Albinism results from inheritance of recessive gene alleles and is known to affect all vertebrates, including humans. It is due to absence or defect of tyrosinase, a copper-containing enzyme involved in the production of melanin. It is the opposite of melanism. Unlike humans, other animals have multiple pigments and for these, ...
AP-3 complex subunit beta-1 is a protein that in humans is encoded by the AP3B1 gene. This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is part of the heterotetrameric AP-3 protein complex which interacts with the scaffolding protein clathrin. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 2. AP3B1 has been shown to interact with AP3S2. GRCh38: Ensembl release 89: ENSG00000132842 - Ensembl, May 2017 GRCm38: Ensembl release 89: ENSMUSG00000021686 - Ensembl, May 2017 "Human PubMed Reference:". "Mouse PubMed Reference:". Dell'Angelica EC, Ooi CE, Bonifacino JS (Jun 1997). "Beta3A-adaptin, a subunit of the adaptor-like complex AP-3". The Journal of Biological Chemistry. 272 (24): 15078-84. doi:10.1074/jbc.272.24.15078. PMID 9182526. Simpson F, Peden AA, Christopoulou L, Robinson MS (May 1997). "Characterization of the adaptor-related protein complex, AP-3". The ...
The gestation period is one month with a litter of between one and nine newborns. Mating season for the Southern African hedgehog is typically in the summer. With a gestation period of around 35 days, the babies are mainly born during the months of October through March. The size of the litters range from 1 to 11 babies with an average of four young. A newborn hedgehog typically weighs around 10g. The young are naked and blind when they are born and are born with infant spines, which are typically shed by the young when they are a month old.[2] The next set of spines that are grown are their adult spines. The amount of time it takes until a baby begins to forage with its mother is about 6 weeks and they will open their eyes about 2 weeks after birth. Hedgehogs can breed multiple times in one year and the baby hedgehogs reach sexual maturity 61-68 weeks of age. Males take no part in the raising of the young.[3] ...
... (also known as amelanosis) is a pigmentation abnormality characterized by the lack of pigments called melanins, commonly associated with a genetic loss of tyrosinase function. Amelanism can affect fish, amphibians, reptiles, birds, and mammals including humans. The appearance of an amelanistic animal depends on the remaining non-melanin pigments. The opposite of amelanism is melanism, a higher percentage of melanin. A similar condition, albinism, is a hereditary condition characterised in animals by the absence of pigment in the eyes, skin, hair, scales, feathers or cuticle. This results in an all white animal, usually with pink or red eyes. Melanin is a compound found in plants, animals, and protists, and is derived from the amino acid tyrosine. Melanin is a photoprotectant, absorbing the DNA-damaging ultraviolet radiation of the sun. Vertebrates have melanin in their skin and hair, feathers, or scales. They also have two layers of pigmented tissue in the eye: the ...
Cipriano Cermeño II (December 5, 1955 - July 25, 2010), known by his screen name Redford White was a Filipino actor and comedian. White first came to prominence in the late 1970s for his supporting role in the sitcom Iskul Bukol. He had a string of hits as the leading man in several 1980s comedies such as Bino and Klayd, Darakula and Hee Man: Master of None, his first major role. For several years, he starred in the TV sitcom Buddy en Sol with Eric Quizon. In the latter part of his career, White appeared in several films for Star Cinema such as Tar-San, Ala eh... Con Bisoy! Hale-hale-hoy!: Laging panalo ang mga unggoy, and Haba-baba-doo! Puti-puti-poo! paired with various comedians including Babalu, Bonel Balingit, Carding Castro and Leo Martinez. His last film and television appearances were in Iskul Bukol 20 Years After and Palos on ABS-CBN, respectively, in 2008. White was reportedly born with albinism, which gave rise to his screen name. He was married to Elena Cermeño ...
The public debt of Puerto Rico has grown at a faster pace than the growth of its economy, reaching $46.7 billion in 2008.[88] In January 2009, Governor Luis Fortuño enacted several measures aimed at eliminating the government's $3.3 billion deficit.[89] Since 2000, the government of Puerto Rico has experienced 19 consecutive negative cash flows which has contributed to the enlargement of its public debt, as the government incurs in new debt in order to pay the older one. On February 4, 2014 Standard & Poor's downgraded the debt of Puerto Rico to junk status. Puerto Rico has roughly $70 billon outstanding debt for a population of four million inhabitants. Despite its small population it is the third issuer of municipal bonds in all 50 states and territories. First being California, second New York.[90] In early 2017, the Puerto Rican government-debt crisis posed serious problems for the government which was saddled with outstanding debt of $70 billion or $12,000 per capita[20] at a time with a ...
As part of their commitment to the community in May 2016, Puerto Rico FC had their first three clinics of the season in Dorado, Farjardo and Hatillo with the participation of over a hundred boys and girls. During these clinics the Puerto Rico FC players turned into coaches, teaching the children about ball control, proper goalkeeping and teamwork. After the different workshops the children faced off against the players in a friendly match. The field of Quintas de Dorado was the site of the first clinic with youth clubs Eleven FC and Toa Baja SC. Next, Puerto Rico FC visited the Tomás Donés Sports Complex and the boys and girls of Cariduros FC. To round up the first leg of clinics the players took a trip to the city of Hatillo where they trained with Hatillo SC and Leal Arecibo in the Francisco Deida Sports Complex.[1] ...
The 27th House of Representatives of Puerto Rico was the lower house of the 15th Legislative Assembly of Puerto Rico and met from January 14, 2005, to January 8, 2009. All members were elected in the General Elections of 2004.[1] The House had a majority of members from the New Progressive Party (PNP).. The body was counterparted by the 23rd Senate of Puerto Rico in the upper house.. ...
Oculocutaneous albinism type 2 explanation free. What is Oculocutaneous albinism type 2? Meaning of Oculocutaneous albinism ... Looking for online definition of Oculocutaneous albinism type 2 in the Medical Dictionary? ... Related to Oculocutaneous albinism type 2: ocular albinism type 2, Oculocutaneous albinism type 3, oculocutaneous albinism type ... Oculocutaneous albinism type II, Yellow albinism. Albinism, major groups. Generalized (oculocutaneous) albinism. All 6 subtypes ...
Ocular Albinism, Hermansky-Pudlak Syndrome, Chediak-Higashi Syndrome testing with next generation sequencing of a multigene ... Oculocutaneous Albinism, Ocular Albinism, Hermansky-Pudlak Syndrome, Chediak-Higashi Syndrome. NGS panel. Genes. (full. coding ... Oculocutaneous Albinism, Ocular Albinism, Hermansky-Pudlak Syndrome, Chediak-Higashi Syndrome *List of diseases covered by ... oculocutaneous albinism) or only the eyes (ocular albinism). ... Ocular albinism is caused by mutations in the GPR143 gene and ...
Albinism. (Hypopigmentation; Oculocutaneous Albinism; Ocular Albinism). by Rick Alan. En Español (Spanish Version) ... Ocular albinism--an X-linked albinism where there are vision problems without changes in skin or hair ... There are different types of albinism:. * Oculocutaneous albinism *Type 1-complete absence of pigment. Skin, hair, and eyes ... People with the most common forms of Type 1 and Type 2 albinism and ocular albinism have a normal lifespan. ...
Ocular Albinism, Hermansky-Pudlak Syndrome, Chediak-Higashi Syndrome NGS panel ... Albinism, oculocutaneous, type IV. TYR. Albinism, oculocutaneous, type IA;. Albinism, oculocutaneous, type IB;. Waardenburg ... Oculocutaneous Albinism, Ocular Albinism, Hermansky-Pudlak Syndrome, Chediak-Higashi Syndrome. NGS panel. Gene. Condition. ... Oculocutaneous Albinism, Ocular Albinism, Hermansky-Pudlak Syndrome, Chediak-Higashi Syndrome *List of diseases covered by ...
Clinical utility gene card for oculocutaneous (OCA) and ocular albinism (OA)-an update ... Clinical utility gene card for oculocutaneous (OCA) and ocular albinism (OA)-an update Abdullah Aamir 1 , Helen J Kuht 1 , ... Clinical utility gene card for oculocutaneous (OCA) and ocular albinism (OA)-an update Abdullah Aamir et al. Eur J Hum Genet. ... Oculocutaneous and ocular albinism]. Kubasch AS, Meurer M. Kubasch AS, et al. Hautarzt. 2017 Nov;68(11):867-875. doi: 10.1007/ ...
... ocular albinism-both parents most carry a defective OCA gene by Mario TooDank , This newsletter was created with Smore, an ... Oculocutaneous albinism Some people with a condition called oculocutaneous albinism have extremely pale skin and eyes, and ... Ocular albinism. For some people, albinism affects only their eyes. This is known as ocular albinism. ... Ocular albinism. For some people, albinism affects only their eyes. This is known as ocular albinism. ...
Albinism is a defect of melanin production. Melanin is a natural substance in the body that gives color to your hair, skin, and ... The most severe form of albinism is called oculocutaneous albinism. People with this type of albinism have white or pink hair, ... Another type of albinism, called ocular albinism type 1 (OA1), affects only the eyes. The persons skin and eye color are ... Because albinism is inherited, genetic counseling is important. People with a family history of albinism or very light coloring ...
Albinism, Oculocutaneous. Intervention Not Provided. Study Groups/Cohorts Not Provided. Publications * *Apkarian P, Shallo- ... Visual Function and Ocular Pigmentation in Albinism. Brief Summary To study the relationship between visual function and ocular ... Visual function and ocular pigmentation are being studied in patients with albinism and other disorders associated with ... Visual Function and Ocular Pigmentation in Albinism. This study has been completed. ...
Oculocutaneous Albinism: Heterogeneous group of autosomal recessive disorders comprising at least four recognized types, all ... 01/01/2015 - "Sequence analysis of tyrosinase gene in ocular and oculocutaneous albinism patients: introducing three novel ... Albinism, Yellow Mutant; Albinism, Oculocutaneous; Yellow Mutant Albinism; Albinism, Tyrosinase Negative; Albinism, Tyrosinase ... Oculocutaneous Albinism (Albinism, Yellow Mutant). Subscribe to New Research on Oculocutaneous Albinism ...
... and ocular affecting the eyes only. There are different types of oculocutaneous albinism depending on which gene has undergone ... An exception to this is ocular albinism, which it is passed on to offspring through X-linked inheritance. Thus, ocular albinism ... The other end of the spectrum of albinism is "a form of albinism called rufous oculocutaneous albinism, which usually affects ... GeneReview/NCBI/NIH/UW entry on Oculocutaneous Albinism Type 2 GeneReview/NCBI/NIH/UW entry on Oculocutaneous Albinism Type 4. ...
Albinism results from defective production of melanin from tyrosine through a complex pathway of metabolic reactions. ... Albinism consists of a group of inherited abnormalities of melanin synthesis and are typically characterized by a congenital ... Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism. N Engl J Med. ... Conditions associated with albinism and not because of close linkage. HPS includes oculocutaneous albinism, platelet granule ...
Albinism is a group of hereditary conditions that affect how the body produces or distributes pigment (the material that ... The second type of albinism is called ocular albinism. Ocular albinism mainly affects the eyes. The skin and hair are of normal ... One type of albinism is called oculocutaneous albinism or OCA. OCA causes someone to have decreased pigment in the eyes, hair, ... Because a child with ocular albinism does not have any outward difference in appearance, eye problems may be the first symptoms ...
... list providing answers to our most frequently asked questions on ocular albinism and oculocutaneous albinism. ... Looking for answers on ocular albinism? Take a look at our comprehensive ... FAQ about Ocular Albinism (OA) and Oculocutaneous Albinism (OCA):. 1.) What is ocular albinism (OA)? Human albinism can be ... 15.) What is the difference between ocular albinism (OA) and oculocutaneous albinism (OCA)? The vision problems experienced by ...
Clinical and/or genetic diagnosis of ocular or oculocutaneous albinism. *Ocular media allowing acceptable visualization of the ... Oculocutaneous Albinism 1 and 2), or exclusively in eye tissues only (Ocular Albinism 1) . ... Ocular and oculocutaneous albinism represent a spectrum of disorders with absent or significantly diminished amount of melanin ... effects of lutein and zeaxanthin supplementation on macular pigment and visual function in ocular or oculocutaneous albinism. ...
Albinism may manifest itself as oculocutaneous (OCA) or just ocular (OA). There occur at least ten different types of OCA and ... Ocular albinism type 1 (OA1), also called Nettleship-Falls syndrome, is the most common type of ocular albinism, with a ... Ocular albinism results from defects in the melanin system, which may arise from either defects in the OA1 receptor, or ... Samaraweera, P., Shen, B., Newton, J.M., Barsh, G.S. and Orlow, S.J. (2001). The mouse ocular albinism 1 gene product is an ...
Oculocutaneous albinism... reduced visual acuity *Oculocutaneous albinism type 1... reduced visual acuity *Oculocutaneous ... Albinism ocular late onset sensorineural deafness... reduced visual acuity *Albinism, ocular, autosomal recessive... reduced ... Oculocutaneous albinism, type 1A... reduced visual acuity *Oculocutaneous albinism, type 1B... reduced visual acuity * ... Oculocutaneous albinism, type 3... reduced visual acuity *Oculocutaneous albinism, type 4... reduced visual acuity *Oguchi ...
There is no known way to prevent albinism or hypopigmentation. ... oculocutaneous albinism or ocular albinism.. This is an ... Albinism or hypopigmentation is a genetic disorder characterized by the complete or partial absence of pigment called melanin ... Albinism may cause social problems, because people with albinism look different from their families, peers, and other members ... Can anyone tell me will my children have albinism if i marry a girl whose father have albinism? ...
1994) Mutations in the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism. N Engl J ... Ocular albinism. OCULAR ALBINISM 1. X linked recessive ocular albinism (Nettleship-Falls type) is categorised as ocular ... Oculocutaneous albinism. "Oculocutaneous albinism" refers to a heterogeneous group of autosomal recessive disorders in which ... AUTOSOMAL RECESSIVE OCULAR ALBINISM?. Patients diagnosed with autosomal recessive ocular albinism (AROA) have appeared similar ...
5 Albinism: Ocular and Oculocutaneous Albinism and Hermansky-Pudlak Syndrome (Richard A. King and C. Gail Summers). ...
Albinism, Oculocutaneous, Type IV. Clinical Characteristics. Ocular Features: The ocular manifestations in type IV ... Oculocutaneous albinism. Gronskov K, Ek J, Brondum-Nielsen K. Oculocutaneous albinism. Orphanet J Rare Dis. 2007 Nov 2;2:43. ... Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan. Inagaki K, Suzuki T, Shimizu H, Ishii N, ... Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan. Am J Hum Genet. 2004 Mar;74(3):466-71. ...
Oculocutaneous albinism. Gronskov K, Ek J, Brondum-Nielsen K. Oculocutaneous albinism. Orphanet J Rare Dis. 2007 Nov 2;2:43. ... Albinism, Oculocutaneous, Type III. Clinical Characteristics. Ocular Features: The irides may be multicolored with the central ... This tyrosinase-positive type of albinism is sometimes called rufous (ROCA) or brown (BOCA) oculocutaneous albinism and is ... Rufous oculocutaneous albinism in southern African Blacks is caused by mutations in the TYRP1 gene. Manga P, Kromberg JG, Box ...
oculocutaneous albinism. have white or pink hair, skin, and iris color and vision problems ... ocular albinism type I 41 type of albinism caused by a single gene; it can occur with a bleeding disorder as well as with lung ... type of localized albinism where often a lock of hair that grows on the forehead is affected, or no coloring is present in one ... type of albinism that affects only the eyes. the affected persons skin and eye colors are usually normal but there is no ...
Both ocular albinism and oculocutaneous albinism result from mutations in genes involved in the production and storage of ... More detailed information about ocular albinism and oculocutaneous albinism, as well as the genetics of eye, hair, and skin ... Ocular albinism is characterized by severely reduced pigmentation of the iris, which causes very light-colored eyes and ... Another condition called oculocutaneous albinism affects the pigmentation of the skin and hair in addition to the eyes. ...
Persons suffering from albinism have extremely light hair, pale skin and no color in the iris. This allows the blood vessels at ... Albinism is a condition wherein the human body does not produce enough of the pigment melanin. In some cases, there may be ... Causes of Albinism. There are primarily two kinds of albinism, oculocutaneous albinism or OCA and ocular albinism or OA. Both ... www.albinism.org/information-bulletin-what-is-albinism/. *www.scientificamerican.com/article/killing-albinos-tanzania-albinism/ ...
The patient may have oculocutaneous albinism or ocular albinism. The former should be easy to detect because the patient has ... Albinism Iris transillumination in albinism. A patient with oculocutaneous albinism with white eyebrows and lashes.. ... or ocular motility (convergent strabismus and nystagmus are common in albinism). The patient has blond hair and poliosis. There ... 2. Can one predict the severity of visual impairment in a child with oculocutaneous albinism? Answer. Patients who can produce ...
  • Although people with albinism may experience a variety of eye problems, one of the myths about albinism is that it causes people to have pink or red eyes. (thefreedictionary.com)
  • In fact, people with albinism can have irises varying from light gray or blue to brown. (thefreedictionary.com)
  • If people with albinism seem to have reddish eyes, it's because light is being reflected from the back of the eye (retina) in much the same way as happens when people are photographed with an electronic flash. (thefreedictionary.com)
  • Albinism is an inherited condition present at birth, characterized by a lack of pigment that normally gives color to the skin, hair, and eyes. (thefreedictionary.com)
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