ECTD13
MCID: ECT095
MIFTS: 19
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Ectodermal Dysplasia 13, Hair/tooth Type (ECTD13)
Categories:
Genetic diseases, Skin diseases
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MalaCards integrated aliases for Ectodermal Dysplasia 13, Hair/tooth Type:
Characteristics:HPO:31Classifications: |
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. |
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Human phenotypes related to Ectodermal Dysplasia 13, Hair/tooth Type:31 (show all 8)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:617392 |
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MalaCards organs/tissues related to Ectodermal Dysplasia 13, Hair/tooth Type:40
Skin,
Bone
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Articles related to Ectodermal Dysplasia 13, Hair/tooth Type:
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ClinVar genetic disease variations for Ectodermal Dysplasia 13, Hair/tooth Type:6
UniProtKB/Swiss-Prot genetic disease variations for Ectodermal Dysplasia 13, Hair/tooth Type:73
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Search
GEO
for disease gene expression data for Ectodermal Dysplasia 13, Hair/tooth Type.
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