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ECTD6
MCID: ECT068
MIFTS: 27
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Ectodermal Dysplasia 6, Hair/nail Type (ECTD6)
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 6, Hair/nail Type:Characteristics:OMIM®:57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive
Miscellaneous:
one pakistani family reported (last curated november 2012) HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Skin diseases Eye diseases Endocrine diseases Oral diseases |
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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. (614928) (Updated 05-Apr-2021)
MalaCards based summary : Ectodermal Dysplasia 6, Hair/nail Type, also known as ectodermal dysplasia 6, is related to ectodermal dysplasia and woolly hair, autosomal dominant. An important gene associated with Ectodermal Dysplasia 6, Hair/nail Type is ECTD6 (Ectodermal Dysplasia 6, Hair/Nail Type), and among its related pathways/superpathways is Keratinization. Related phenotypes are alopecia and sparse hair Disease Ontology : 12 A pure hair and nail ectodermal dysplasia that has material basis in homozygous or compound heterozygous mutation in a region on chromosome 17p12-q21.2. |
Human phenotypes related to Ectodermal Dysplasia 6, Hair/nail Type:31
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Apr-2021)Clinical features from OMIM®:614928 (Updated 05-Apr-2021) |
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Articles related to Ectodermal Dysplasia 6, Hair/nail Type:
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Genes related to Ectodermal Dysplasia 6, Hair/nail Type (1 elite genes):(show all 13) - Elite gene
- Cancer Census gene in COSMIC
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Search
GEO
for disease gene expression data for Ectodermal Dysplasia 6, Hair/nail Type.
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Cellular components related to Ectodermal Dysplasia 6, Hair/nail Type according to GeneCards Suite gene sharing:
Biological processes related to Ectodermal Dysplasia 6, Hair/nail Type according to GeneCards Suite gene sharing:
Molecular functions related to Ectodermal Dysplasia 6, Hair/nail Type according to GeneCards Suite gene sharing:
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