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ECTD4
MCID: ECT067
MIFTS: 35
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Ectodermal Dysplasia 4, Hair/nail Type (ECTD4)
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 4, Hair/nail Type:
Characteristics:Orphanet epidemiological data:59
pure hair and nail ectodermal dysplasia
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy; OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
three families described (last curated january 2014) HPO:32
ectodermal dysplasia 4, hair/nail type:
Inheritance autosomal recessive inheritance autosomal dominant inheritance Classifications:
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 4, 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. ECTD4 is characterized by complete alopecia, hypotricosis and nail dystrophy in all digits. There is no evidence of any other abnormality. Inheritance can be autosomal dominant or recessive.
MalaCards based summary : Ectodermal Dysplasia 4, Hair/nail Type, also known as ectodermal dysplasia, 'pure' hair-nail type, is related to ectodermal dysplasia and lacrimal duct obstruction. An important gene associated with Ectodermal Dysplasia 4, Hair/nail Type is KRT85 (Keratin 85), and among its related pathways/superpathways is Keratinization. Affiliated tissues include skin and eye, and related phenotypes are nail dystrophy and alopecia 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. (602032) |
Diseases in the Ectodermal Dysplasia 4, Hair/nail Type family:
Diseases related to Ectodermal Dysplasia 4, Hair/nail Type via text searches within MalaCards or GeneCards Suite gene sharing:
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:602032Human phenotypes related to Ectodermal Dysplasia 4, Hair/nail Type:32 (show all 11)
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MalaCards organs/tissues related to Ectodermal Dysplasia 4, Hair/nail Type:41
Skin,
Eye
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Articles related to Ectodermal Dysplasia 4, Hair/nail Type:
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Genes related to Ectodermal Dysplasia 4, Hair/nail Type (5 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Ectodermal Dysplasia 4, Hair/nail Type:75
ClinVar genetic disease variations for Ectodermal Dysplasia 4, Hair/nail Type:6
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Search
GEO
for disease gene expression data for Ectodermal Dysplasia 4, Hair/nail Type.
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Cellular components related to Ectodermal Dysplasia 4, Hair/nail Type according to GeneCards Suite gene sharing:
Biological processes related to Ectodermal Dysplasia 4, Hair/nail Type according to GeneCards Suite gene sharing:
Molecular functions related to Ectodermal Dysplasia 4, Hair/nail Type according to GeneCards Suite gene sharing:
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