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ECTD7
MCID: ECT065
MIFTS: 32
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Ectodermal Dysplasia 7, Hair/nail Type (ECTD7)
Categories:
Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Ectodermal Dysplasia 7, Hair/nail Type:
Characteristics:OMIM®:57 (Updated 20-May-2021)
Inheritance:
autosomal recessive
Miscellaneous:
two pakistani families reported (last curated july 2014) HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Skin diseases Endocrine diseases Oral diseases Eye diseases |
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UniProtKB/Swiss-Prot :
72
Ectodermal dysplasia 7, hair/nail type: A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. Ectodermal dysplasia of the hair/nail type is characterized by hypotrichosis and nail dystrophy without non-ectodermal or other ectodermal manifestations.
MalaCards based summary : Ectodermal Dysplasia 7, Hair/nail Type, also known as ectd7, is related to woolly hair, autosomal dominant and hypotrichosis 7. An important gene associated with Ectodermal Dysplasia 7, Hair/nail Type is KRT74 (Keratin 74), and among its related pathways/superpathways is Keratinization. Affiliated tissues include eye, and related phenotypes are alopecia and dystrophic toenail Disease Ontology : 12 A pure hair and nail ectodermal dysplasia that has material basis in homozygous or compound heterozygous mutation in KRT74 on chromosome 12q13.13. 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 of the hair/nail type is a rare congenital condition characterized by hypotrichosis and nail dystrophy without nonectodermal or other ectodermal manifestations. (614929) (Updated 20-May-2021) |
Human phenotypes related to Ectodermal Dysplasia 7, Hair/nail Type:31 (show all 8)
Symptoms via clinical synopsis from OMIM®:57 (Updated 20-May-2021)Clinical features from OMIM®:614929 (Updated 20-May-2021) |
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MalaCards organs/tissues related to Ectodermal Dysplasia 7, Hair/nail Type:40
Eye
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Articles related to Ectodermal Dysplasia 7, Hair/nail Type:
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Genes related to Ectodermal Dysplasia 7, Hair/nail Type (1 elite genes):(show all 13) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Ectodermal Dysplasia 7, Hair/nail Type:6
UniProtKB/Swiss-Prot genetic disease variations for Ectodermal Dysplasia 7, Hair/nail Type:72
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Search
GEO
for disease gene expression data for Ectodermal Dysplasia 7, Hair/nail Type.
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Cellular components related to Ectodermal Dysplasia 7, Hair/nail Type according to GeneCards Suite gene sharing:
Biological processes related to Ectodermal Dysplasia 7, Hair/nail Type according to GeneCards Suite gene sharing:
Molecular functions related to Ectodermal Dysplasia 7, Hair/nail Type according to GeneCards Suite gene sharing:
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