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ECTD4
MCID: ECT067
MIFTS: 40
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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:58
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 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive
Miscellaneous:
three families described (last curated january 2014) HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Skin diseases Endocrine diseases Oral diseases Eye diseases
ICD10:
33
Orphanet: 58
Rare skin diseases
Developmental anomalies during embryogenesis External Ids:
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UniProtKB/Swiss-Prot :
72
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 pure hair and nail ectodermal dysplasia, is related to ectodermal dysplasia 7, hair/nail type and ectodermal dysplasia 9, hair/nail type. An important gene associated with Ectodermal Dysplasia 4, Hair/nail Type is KRT85 (Keratin 85), and among its related pathways/superpathways are Developmental Biology and Keratinization. Related phenotypes are sparse body hair and alopecia Disease Ontology : 12 An ectodermal dysplasia characterized by onychodystrophy and severe hypotrichosis without nonectodermal or other ectodermal manifestations. 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) (Updated 05-Apr-2021) KEGG : 36 Ectodermal dysplasia (ECTD), hair-nail type is a rare condition involving only tissues of ectodermal origin. Patients show complete alopecia and primitive nails. Autosomal recessive type has previously been associated with mutations in either KRT85, KRT74 or HOXC13. |
Human phenotypes related to Ectodermal Dysplasia 4, Hair/nail Type:31 (show all 11)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Apr-2021)Clinical features from OMIM®:602032 (Updated 05-Apr-2021)GenomeRNAi Phenotypes related to Ectodermal Dysplasia 4, Hair/nail Type according to GeneCards Suite gene sharing:26 (show all 11)
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Cochrane evidence based reviews: ectodermal dysplasia, pure hair-nail type |
Articles related to Ectodermal Dysplasia 4, Hair/nail Type:(show all 14)
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Genes related to Ectodermal Dysplasia 4, Hair/nail Type (6 elite genes):(show all 28) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Ectodermal Dysplasia 4, Hair/nail Type:6
UniProtKB/Swiss-Prot genetic disease variations for Ectodermal Dysplasia 4, Hair/nail Type:72
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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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