Ectodermal Dysplasia 13, Hair/tooth Type (ECTD13)

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Disease Ontology 12 DOID:0111650 OMIM 56 617392 OMIM Phenotypic Series 56 PS305100

MeSH 43 D004476 MedGen 41 C4479322 CN240911 SNOMED-CT via HPO 68 194021007 22006008 249321001 258211005 more

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. 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 depressed nasal bridge and hypertelorism

Disease Ontology : ¹² An ectodermal dysplasia characterized by severe oligodontia accompanied by anomalies of hair and skin that has material basis in homozygous or compound heterozygous mutation in KREMEN1 on chromosome 22q12.1.

UniProtKB/Swiss-Prot : ⁷³ 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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