Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive (ECTD10B)

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Disease Ontology 12 DOID:14793 OMIM 56 224900 OMIM Phenotypic Series 56 PS305100 KEGG 36 H00651 MeSH 43 D004476 D053358 D053360 NCIt 49 C84562 SNOMED-CT 67 4826006 7731005

ICD10 via Orphanet 33 Q82.4 UMLS via Orphanet 72 C0162359 C0406702 C1706004 Orphanet 58 ORPHA238468 MedGen 41 C0406702 C3887494 SNOMED-CT via HPO 68 111324004 14662005 16386004 16958000 17790008 22486004 238736006 239007005 248200007 258211005 263731006 26624006 26996000 272039006 277797007 281104002 300268000 302896008 32003007 32337007 363677007 36440009 36971009 386806002 396228006 39659002 398206004 398302004 399955009 422775003 43116000 432788009 45004005 46152009 49727002 52254009 53602002 56558005 56893005 64969001 69215007 708670007 7393007 87715008 90145001 more UMLS 71 C0162359 C0406702 C1720965 C3539920 C3887494 more

Genetics Home Reference : ²⁵ Hypohidrotic ectodermal dysplasia is one of more than 100 types of ectodermal dysplasia. Starting before birth, these disorders result in the abnormal development of ectodermal tissues, particularly the skin, hair, nails, teeth, and sweat glands. 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. Sweating is a major way that the body controls its temperature; as sweat evaporates from the skin, it cools the body. Reduced sweating can lead to a dangerously high body temperature (hyperthermia), particularly in hot weather. In some cases, hyperthermia can cause life-threatening health problems. Affected individuals tend to have sparse scalp and body hair (hypotrichosis). The hair is often light-colored, brittle, and slow-growing. Hypohidrotic ectodermal dysplasia is also characterized by several missing teeth (hypodontia) or teeth that are malformed. The teeth that are present erupt from the gums later than usual and are frequently small and pointed. Some people with hypohidrotic ectodermal dysplasia have distinctive facial features, including a prominent forehead, thick lips, and a flattened bridge of the nose. Additional features of this condition can include thin, wrinkled, and dark-colored skin around the eyes; chronic skin problems such as eczema; and a bad-smelling discharge from the nostrils (ozena). Intellectual ability and growth are typically normal in people with hypohidrotic ectodermal dysplasia.

MalaCards based summary : Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive, also known as hypohidrotic ectodermal dysplasia, is related to hypohidrotic ectodermal dysplasia with immunodeficiency and ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant, and has symptoms including dyspnea, dry skin and spontaneous, recurrent epistaxis. An important gene associated with Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive is EDAR (Ectodysplasin A Receptor), and among its related pathways/superpathways are Cytokine-cytokine receptor interaction and Cytokine Signaling in Immune system. The drugs Immunologic Factors and Immunoglobulins have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and breast, and related phenotypes are abnormal facial shape and thick vermilion border

Disease Ontology : ¹² An ectodermal dysplasia that is characterized by malformation of ectodermal (skin, hair, teeth and sweat glands) structures including hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth).

NIH Rare Diseases : ⁵² Hypohidrotic ectodermal dysplasia (HED) is a genetic skin disease. Common symptoms include sparse scalp and body hair, reduced ability to sweat, and missing teeth. HED is caused by mutations in the EDA , EDAR , or EDARADD genes . It may be inherited in an X-linked recessive , autosomal recessive , or autosomal dominant manner depending on the genetic cause of the condition. The X-linked form is the most common form. The forms have similar signs and symptoms, however the the autosomal dominant form tends to be the mildest. Treatment of hypohidrotic ectodermal dysplasia may include special hair care formulas or wigs, measures to prevent overheating, removal of ear and nose concretions, and dental evaluations and treatment (e.g., restorations, dental implants, or dentures).

OMIM : ⁵⁶ Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Hypohidrotic, or anhidrotic, ectodermal dysplasia is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples (summary by Cluzeau et al., 2011). (224900)

KEGG : ³⁶ Hypohidrotic ectodermal dysplasia (HED) is a condition characterized by major involvement of ectodermal structures with perturbed formation and maturation of teeth, hair, and sweat glands. HED is caused by defective epithelial-mesenchymal interaction that involves the Ectodysplasin/Edar/Edaradd signaling pathway. Congenital anhidrotic ectodermal dysplasia is a sex-linked disorder characterized by incomplete development of the dermis, resulting in the absence of hair follicles and sweat glands with anodontia in affected males.

UniProtKB/Swiss-Prot : ⁷³ Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive: A disorder due to abnormal development of two or more ectodermal structures, and characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth and the inability to sweat due to the absence of sweat glands.

Wikipedia : ⁷⁴ Hypohidrotic ectodermal dysplasia is one of about 150 types of ectodermal dysplasia in humans. Before... more...

GeneReviews: NBK1112

Clinical features from OMIM:

224900

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