Ectodermal Dysplasia 13, Hair/tooth Type (ECTD13)

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OMIM 57 617392 MedGen 42 C4479322 CN240911

MeSH 44 D004476 SNOMED-CT via HPO 69 258211005 194021007 22006008 249321001 more

OMIM : ⁵⁷ 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. Ectodermal dysplasia-13 of the hair/tooth type is characterized by severe oligodontia accompanied by anomalies of hair and skin (Issa et al., 2016). (617392)

MalaCards based summary : Ectodermal Dysplasia 13, Hair/tooth Type, is also known as ectd13. An important gene associated with Ectodermal Dysplasia 13, Hair/tooth Type is KREMEN1 (Kringle Containing Transmembrane Protein 1). Affiliated tissues include skin and bone, and related phenotypes are hypertelorism and depressed nasal bridge

UniProtKB/Swiss-Prot : ⁷⁵ Ectodermal dysplasia 13, hair/tooth type: A form of ectodermal dysplasia, a disorder due to abnormal development of two or more ectodermal structures. ECTD13 is an autosomal recessive form characterized by severe oligodontia accompanied by anomalies of hair and skin.

Clinical features from OMIM:

617392

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