AnhidroticTypes of ectodermal dysplasiaMutationsCongenitalNational Foundation for Ectodermal DysplasiasAutosomal dominantTerm ectodermal dysplasiaCleftGeneDefectsSyndromeAbnormalitiesRecessiveWNT10AStructuresXLHEDCompriseOMIMFreire-MaiaSweatClassificationSyndromesClinicalMolecularHypodontiaEccrineHumansInheritancePhenotypeFacialDisordersPeopleProminentPatientDevelopment
Anhidrotic6
- The two most common forms of the disease are hypohidrotic and anhidrotic ED [ 4 , 5 ]. (biomedcentral.com)
- A newborn boy with anhidrotic/hypohidrotic ectodermal dysplasia syndrome showing generalized fine scaling and a history of intermittent fever. (medscape.com)
- Hypohidrosis is a feature of some genetic conditions (eg, hypohidrotic and anhidrotic ectodermal dysplasia). (merckmanuals.com)
- Here, we review the cloning, mutation analyses, and functional studies of the known causative genes for the X-chromosomal anhidrotic ectodermal dysplasia (ED1) in these species. (gse-journal.org)
- Mutations in the ectodysplasin 1 ( ED1 ) gene are responsible for X-linked anhidrotic ectodermal dysplasia. (gse-journal.org)
- X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by mutations in NEMO/IKKgamma, the regulatory subunit of the IkB kinase complex. (lu.se)
Types of ectodermal dysplasia3
- Hypohidrotic ectodermal dysplasia is one of about 150 types of ectodermal dysplasia in humans. (wikipedia.org)
- Hypohidrotic ectodermal dysplasia is one of more than 100 types of ectodermal dysplasia. (medlineplus.gov)
- 186 types of ectodermal dysplasia have been identified using the Freire-Maria classification. (prosthodontics.org)
Mutations12
- citation needed] Mutations in the EDA, EDAR, and EDARADD genes cause hypohidrotic ectodermal dysplasia. (wikipedia.org)
- Most cases are caused by mutations in the EDA gene, which are inherited in an X-linked recessive pattern, called x-linked hypohidrotic ectodermal dysplasia (XLHED). (wikipedia.org)
- Less commonly, hypohidrotic ectodermal dysplasia results from mutations in the EDAR or EDARADD gene. (wikipedia.org)
- Hypohidrotic ectodermal dysplasia is a genetic condition that can result from mutations in one of several genes. (medlineplus.gov)
- Mutations in any of these three genes lead to the major signs and symptoms of hypohidrotic ectodermal dysplasia described above. (medlineplus.gov)
- The WNT10A gene mutations that cause hypohidrotic ectodermal dysplasia impair the protein's function, which disrupts the development of teeth and other structures that arise from the ectodermal cell layer. (medlineplus.gov)
- When hypohidrotic ectodermal dysplasia results from WNT10A gene mutations, its features are more variable than when the condition is caused by mutations in the EDA , EDAR , or EDARADD gene. (medlineplus.gov)
- Recent advances in understanding the molecular events underlying hypohidrotic ectodermal dysplasia (HED) caused by mutations of the genes encoding proteins of the tumor necrosis factor α (TNFα)-related signaling pathway have been presented. (springer.com)
- Mutations of these genes are responsible for systemic tooth agenesis, in addition to the defects of other ectodermal structures, and this review is limited to description of the function of their protein products. (springer.com)
- An autosomal recessive form of ectodermal dysplasia which is due to mutations in the gene for the EDAR RECEPTOR or EDAR-ASSOCIATED DEATH DOMAIN PROTEIN. (rush.edu)
- Mutations in this gene result in incontinentia pigmenti, hypohidrotic ectodermal dysplasia, and several other types of immunodeficiencies. (origene.com)
- An X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ECTODYSPLASIN. (bvsalud.org)
Congenital5
- Ectodermal dysplasias comprise a large group of congenital developmental disorders of at least two ectoderm-derived structures: eccrine sweat glands, teeth, hair, skin, and/or nails. (springer.com)
- Ectodermal dysplasia (ED) includes a large and heterogeneous group of rare congenital conditions with structural and functional abnormalities in various tissues originating from the ectodermal layer of the developing embryo. (biomedcentral.com)
- The ectodermal dysplasias are congenital, diffuse, and nonprogressive. (medscape.com)
- The dental abnormalities are the typical features of many ectodermal dysplasias along with congenital malformations of nails, skin, hair, and sweat glands. (uni-ulm.de)
- Hypohidrotic ectodermal dysplasia (HED) is characterized by hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). (nih.gov)
National Foundation for Ectodermal Dysplasias2
- 3 In-depth information concerning genetics and research related to the ectodermal dysplasias is available through the websites of the National Foundation for Ectodermal Dysplasias, the National Organization For Rare Disorders, and Geneskin. (prosthodontics.org)
- The National Foundation for Ectodermal Dysplasias (NFED) is making some noise in the world of ectodermal dysplasias! (nfed.org)
Autosomal dominant1
- Hypohidrotic ED may be inherited as X-linked, autosomal dominant, and autosomal recessive patterns. (biomedcentral.com)
Term ectodermal dysplasia1
- Although Thurnam published the first report of a patient with ectodermal dysplasia in 1848, the term ectodermal dysplasia was not coined until 1929 by Weech. (medscape.com)
Cleft1
- Several ectodermal dysplasia syndromes may manifest in association with midfacial defects, mainly cleft lip, cleft palate, or both. (medscape.com)
Gene1
- The ED1 gene encodes a signaling molecule of the tumor necrosis factor family that is involved in development of ectodermal appendages. (gse-journal.org)
Defects7
- The ectodermal dysplasias (EDs) comprise a large, heterogeneous group of inherited disorders that are defined by primary defects in the development of 2 or more tissues derived from embryonic ectoderm. (medscape.com)
- Pure ectodermal dysplasias are manifested by defects in ectodermal structures alone, while ectodermal dysplasia syndromes are defined by the combination of ectodermal defects in association with other anomalies. (medscape.com)
- Overall, the ectodermal dysplasias were classified into either group A disorders, which were manifested by defects in at least 2 of the 4 classic ectodermal structures as defined above, with or without other defects, and group B disorders, which were manifested by a defect in one classic ectodermal structure (1-4 from above) in combination with (5) a defect in one other ectodermal structure (ie, ears, lips, dermatoglyphics). (medscape.com)
- Eleven group A subgroups were defined, each with a distinct combination of 2 or more ectodermal defects (eg, 2-4, 1-2-3, 1-2-3-4 from above). (medscape.com)
- [ 7 ] Similarly, in 2001, Priolo and Laganà reclassified the ectodermal dysplasias into 2 main functional groups: (1) defects in developmental regulation/epithelial-mesenchymal interaction and (2) defects in cytoskeleton maintenance and cell stability. (medscape.com)
- [ 8 ] Other classification systems categorize the ectodermal dysplasias based on defects in cell-cell communication and signaling, adhesion, transcription regulation, or development. (medscape.com)
- Ectodermal dysplasias are inherited conditions characterized by defects of the hair, teeth, nails, and sweat glands. (prosthodontics.org)
Syndrome6
- Hypohidrotic ectodermal dysplasia (HED) is a hereditary syndrome, characterized by a classic triad of hypotrichosis, hypodontia and hypohidrosis. (bvsalud.org)
- The most common ectodermal dysplasias are X-linked recessive hypohidrotic ectodermal dysplasia (Christ-Siemens-Touraine syndrome), as shown in the image below, and hidrotic ectodermal dysplasia (Clouston syndrome). (medscape.com)
- Ectodermal dysplasia, ectrodactyly, and clefting syndrome. (medscape.com)
- Ectrodactyly observed in an individual with ectodermal dysplasia, ectrodactyly, and clefting syndrome. (medscape.com)
- The most prevalent form of ectodermal dysplasia is hypohidrotic ectodermal dysplasia (HED), also known as Christ-Siemens-Touraine syndrome (CST). (prosthodontics.org)
- Hidrotic ectodermal dysplasia (HED), or Clouston syndrome, is a form of ectodermal dysplasia, a group of approximately 150 genetic disorders characterized by the abnormal development of ectodermal structures including the skin, hair, and nails. (logicalimages.com)
Abnormalities1
- [ 3 , 4 ] Their original classification system stratified the ectodermal dysplasias into different subgroups according to the presence or absence of (1) hair anomalies or trichodysplasias, (2) dental abnormalities, (3) nail abnormalities or onychodysplasias, and (4) eccrine gland dysfunction or dyshidrosis. (medscape.com)
Recessive3
- Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (rush.edu)
- This graph shows the total number of publications written about "Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive" by people in this website by year, and whether "Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive" was a major or minor topic of these publications. (rush.edu)
- Below are the most recent publications written about "Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive" by people in Profiles. (rush.edu)
WNT10A1
- Signaling involving the WNT10A protein is critical for the development of ectodermal structures, particularly the teeth. (medlineplus.gov)
Structures2
- Hypohidrotic Ectodermal Dysplasia (HED) is a genetic disorder which affects structures of ectodermal origin. (biomedcentral.com)
- It also affects other ectodermal structures such as the skin, hair, and teeth. (steptohealth.com)
XLHED3
- X-linked hypohidrotic ectodermal dysplasia (XLHED) is the most common form of disease. (biomedcentral.com)
- Examples include infantile hemangioma where a therapy has been approved since 2014 and, more recently, X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) with a therapy under development. (pierre-fabre.com)
- The Pierre Fabre Group has recently committed, with the EspeRare Foundation, to the development of an innovative therapy for the most common type of Ectodermal Dysplasia, XLHED, a rare genetic disease that affects the sweat and respiratory glands, skin, hair and teeth. (pierre-fabre.com)
Comprise1
- The characteristic features of hypohidrotic ectodermal dysplasia (HED) comprise of hypodontia/oligodontia, along with hypohidrosis/anhidrosis, and hypotrichosis. (uni-ulm.de)
OMIM1
- Priolo and Lagana 2001 ) the most common is ectodermal dysplasia 1 (OMIM 305100), an X-linked hypohidrotic form (HED), which occurs in the general population with a frequency of one per 17,000 live births. (springer.com)
Freire-Maia1
- Pinheiro and Freire-Maia defined as ED any condition with lack or dysgenesis of at least two of the ectodermal derivatives: hair, nails, teeth or eccrine sweet glands [ 1 , 2 ]. (biomedcentral.com)
Sweat8
- Most people with hypohidrotic ectodermal dysplasia have a reduced ability to sweat (hypohidrosis) because they have fewer sweat glands than normal or their sweat glands do not function properly. (wikipedia.org)
- The function of EDA protein in pathways regulating ectodermal development, is a key regulator of hair follicle and sweat gland initiation [ 13 , 14 ]. (biomedcentral.com)
- An inherited condition called hypohidrotic ectodermal dysplasia causes people to be born with either very few or no sweat glands. (healthline.com)
- The disorder, called X-linked hypohidrotic ectodermal dysplasia, leaves patients unable to produce sweat, which can be life-threatening. (the-scientist.com)
- In contrast to hypohidrotic ectodermal dysplasia , patients with HED have normal dentition and the capacity to sweat. (logicalimages.com)
- Hypohidrotic ectodermal dysplasia - Sparse hair, hypodontia, facial dysmorphia, and significantly reduced sweat production. (logicalimages.com)
- Certain dysplasias can affect the development of the sweat glands. (steptohealth.com)
- Auggie and Dakota Olive have hypohidrotic ectodermal dysplasia, but they don't sweat it. (nfed.org)
Classification3
- Current classification of ectodermal dysplasias is based on clinical features. (medscape.com)
- [ 5 ] This classification was revised in 2014 to include 163 defined ectodermal dysplasia syndromes. (medscape.com)
- With the recent identification of the causative genetic defect for a number of the ectodermal dysplasias, newer classification systems have been devised. (medscape.com)
Syndromes1
- Visinoni tabulated a summary of the 186 defined ectodermal dysplasia syndromes classified as group A in 2009. (medscape.com)
Clinical3
- Clinical reports indicate that implants can be successful in patients with ectodermal dysplasia if bone volume is adequate for implant placement. (prosthodontics.org)
- Clinical and molecular study in a family with cleidocranial dysplasia]. (bvsalud.org)
- Clinical and molecular study in a child with X-linked hypohidrotic ectodermal dysplasia]. (bvsalud.org)
Molecular3
- Characterisation of molecular DNA rearrangements within the Xq12-q13.1 region, in three patients with X-linked hypohidrotic ectodermal dysplasia (EDA). (ox.ac.uk)
- Estudio clínico y molecular en una familia con displasia cleidocraneal. (bvsalud.org)
- Estudio clínico y molecular en un escolar con displasia ectodérmica hipohidrótica ligada al X. (bvsalud.org)
Hypodontia1
- Hypohidrotic ectodermal dysplasia is also characterized by several missing teeth (hypodontia) or teeth that are malformed. (medlineplus.gov)
Eccrine1
- Ectodermal dysplasias are a large group of rare genetic disorders characterized by impaired development of hair, teeth, and eccrine glands in humans, mice, and cattle. (gse-journal.org)
Humans1
- Hypohidrotic ectodermal dysplasia is the most common form of ectodermal dysplasia in humans. (wikipedia.org)
Inheritance2
- citation needed] Hypohidrotic ectodermal dysplasia has several different inheritance patterns. (wikipedia.org)
- Hypohidrotic ectodermal dysplasia has several different inheritance patterns. (medlineplus.gov)
Phenotype1
- Wild-Type (WT) and Tabby (Ta) mice were used to compare effects on a normal phenotype and on a mutant model of ectodermal dysplasia (ED). After 21 days, no effect on bone neoformation was observed in Ta treated lesion (4% neoformation compared to 13% in the control lesion). (hindawi.com)
Facial1
- citation needed] Hypohidrotic ectodermal dysplasia is associated with distinctive facial features including a prominent forehead, thin lips, and a flattened bridge of the nose. (wikipedia.org)
Disorders1
- The diseases include phenylketonuria, sickle cell anemia, dystrophic epidermolysis bullosa, X-linked hypohidrotic ectodermal dysplasia, and Friedreich s ataxia just a few of the more than 1000 genetic disorders that are well-described and many more that are not. (cshlpress.com)
People2
- Intellectual ability and growth are typically normal in people with hypohidrotic ectodermal dysplasia. (medlineplus.gov)
- In about 10 percent of people with hypohidrotic ectodermal dysplasia, the genetic cause is unknown. (medlineplus.gov)
Prominent1
- The most prominent case is hypohidrotic ectodermal dysplasia. (steptohealth.com)
Patient1
- A panel of somatic cell hybrids and X-linked hypohidrotic ectodermal dysplasia (EDA) patient-derived cell lines, containing different rearranged X chromosomes, have been used to refine the physical map of the Xq12-q13.1 region. (ox.ac.uk)
Development1
- In 2003, Lamartine reclassified the ectodermal dysplasias into the following 4 functional groups based on the underlying pathophysiologic defect: (1) cell-to-cell communication and signaling, (2) adhesion, (3) development, and (4) other. (medscape.com)