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ECTD4
MCID: ECT067
MIFTS: 41
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Ectodermal Dysplasia 4, Hair/nail Type (ECTD4)
Categories:
Endocrine 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:Inheritance:
Ectodermal Dysplasia 4, Hair/nail Type:
Autosomal recessive 57
Pure Hair and Nail Ectodermal Dysplasia:
Autosomal dominant,Autosomal recessive 58
Prevelance:
Pure Hair and Nail Ectodermal Dysplasia:
<1/1000000 (Worldwide) 58
Age Of Onset:
Pure Hair and Nail Ectodermal Dysplasia:
Infancy,Neonatal 58
Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Skin diseases Endocrine diseases Oral diseases
ICD10:
32
Orphanet: 58
Rare skin diseases
Developmental anomalies during embryogenesis |
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UniProtKB/Swiss-Prot: 73 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 9, hair/nail type and ectodermal dysplasia 7, 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 Nervous system development and Keratinization. Affiliated tissues include skin, and related phenotypes are sparse body hair 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) (Updated 08-Dec-2022) Orphanet: 58 Pure hair and nail ectodermal dysplasia is characterised by the association of onychodystrophy and severe hypotrichosis, which is mainly limited to the scalp but may also affect the eyelashes and eyebrows. Less than 20 cases have been reported so far. The mode of transmission is autosomal dominant. Disease Ontology: 11 An ectodermal dysplasia characterized by onychodystrophy and severe hypotrichosis without nonectodermal or other ectodermal manifestations. |
Human phenotypes related to Ectodermal Dysplasia 4, Hair/nail Type:30 (show all 11)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:602032 (Updated 08-Dec-2022)GenomeRNAi Phenotypes related to Ectodermal Dysplasia 4, Hair/nail Type according to GeneCards Suite gene sharing:25 (show all 19)
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Cochrane evidence based reviews: ectodermal dysplasia, pure hair-nail type |
Organs/tissues related to Ectodermal Dysplasia 4, Hair/nail Type:
MalaCards :
Skin
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Articles related to Ectodermal Dysplasia 4, Hair/nail Type:(show all 27)
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Genes related to Ectodermal Dysplasia 4, Hair/nail Type (5 elite genes):(show all 30) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Ectodermal Dysplasia 4, Hair/nail Type:5
UniProtKB/Swiss-Prot genetic disease variations for Ectodermal Dysplasia 4, Hair/nail Type:73
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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:
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