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ECTD7
MCID: ECT065
MIFTS: 20
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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
Inheritance:
autosomal recessive
Miscellaneous:
two pakistani families reported (last curated july 2014) HPO:32Classifications:
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
:
75
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, is also known as ectd7. An important gene associated with Ectodermal Dysplasia 7, Hair/nail Type is KRT74 (Keratin 74). Affiliated tissues include skin and eye, and related phenotypes are alopecia and hypotrichosis 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) |
Diseases in the Ectodermal Dysplasia 4, Hair/nail Type family:
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:614929Human phenotypes related to Ectodermal Dysplasia 7, Hair/nail Type:32 (show all 9)
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MalaCards organs/tissues related to Ectodermal Dysplasia 7, Hair/nail Type:41
Skin,
Eye
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Genes related to Ectodermal Dysplasia 7, Hair/nail Type (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Ectodermal Dysplasia 7, Hair/nail Type:75
ClinVar genetic disease variations for Ectodermal Dysplasia 7, Hair/nail Type:6
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Search
GEO
for disease gene expression data for Ectodermal Dysplasia 7, Hair/nail Type.
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