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ECTD13
MCID: ECT095
MIFTS: 16
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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:33Classifications: |
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OMIM
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58
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 : 76 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:33 (show all 8)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:617392 |
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MalaCards organs/tissues related to Ectodermal Dysplasia 13, Hair/tooth Type:42
Skin,
Bone
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Genes related to Ectodermal Dysplasia 13, Hair/tooth Type (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Ectodermal Dysplasia 13, Hair/tooth Type:76
ClinVar genetic disease variations for Ectodermal Dysplasia 13, Hair/tooth Type:6
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Search
GEO
for disease gene expression data for Ectodermal Dysplasia 13, Hair/tooth Type.
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