MCID: WLL018
MIFTS: 17

Woolly Hair, Autosomal Dominant malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Woolly Hair, Autosomal Dominant

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Aliases & Descriptions for Woolly Hair, Autosomal Dominant:

Name: Woolly Hair, Autosomal Dominant 50 12
Woolly Hair Autosomal Dominant 68 25
 
Adwh 68

Characteristics:

HPO:

62
woolly hair, autosomal dominant:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 194300
MedGen35 C1860238
MeSH37 D006201

Summaries for Woolly Hair, Autosomal Dominant

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OMIM:50 Woolly hair (WH) refers to a group of hair shaft disorders that are characterized by fine and tightly curled hair.... (194300) more...

MalaCards based summary: Woolly Hair, Autosomal Dominant, also known as woolly hair autosomal dominant, is related to hypotrichosis 8, and has symptoms including coarse hair, woolly hair and dry hair. An important gene associated with Woolly Hair, Autosomal Dominant is KRT74 (Keratin 74).

UniProtKB/Swiss-Prot:68 Woolly hair autosomal dominant: A hair shaft disorder characterized by fine and tightly curled hair. Compared to normal curly hair that is observed in some populations, woolly hair grows slowly and stops growing after a few inches. Under light microscopy, woolly hair shows some structural anomalies, including trichorrhexis nodosa and tapered ends.

Related Diseases for Woolly Hair, Autosomal Dominant

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Diseases in the Woolly Hair Syndrome family:

woolly hair, autosomal dominant Woolly Hair, Autosomal Recessive
Woolly Hair Autosomal Recessive 3

Diseases related to Woolly Hair, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1hypotrichosis 810.0

Symptoms for Woolly Hair, Autosomal Dominant

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Symptoms by clinical synopsis from OMIM:

194300

Clinical features from OMIM:

194300

HPO human phenotypes related to Woolly Hair, Autosomal Dominant:

id Description Frequency HPO Source Accession
1 coarse hair HP:0002208
2 woolly hair HP:0002224
3 dry hair HP:0011359

Drugs & Therapeutics for Woolly Hair, Autosomal Dominant

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Woolly Hair, Autosomal Dominant

Genetic Tests for Woolly Hair, Autosomal Dominant

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Genetic tests related to Woolly Hair, Autosomal Dominant:

id Genetic test Affiliating Genes
1 Woolly Hair, Autosomal Dominant25

Anatomical Context for Woolly Hair, Autosomal Dominant

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Animal Models for Woolly Hair, Autosomal Dominant or affiliated genes

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Publications for Woolly Hair, Autosomal Dominant

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Variations for Woolly Hair, Autosomal Dominant

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UniProtKB/Swiss-Prot genetic disease variations for Woolly Hair, Autosomal Dominant:

68
id Symbol AA change Variation ID SNP ID
1KRT74p.Asn148LysVAR_063587rs267607205

Clinvar genetic disease variations for Woolly Hair, Autosomal Dominant:

5
id Gene Variation Type Significance SNP ID Assembly Location
1KRT74NM_175053.3(KRT74): c.444C> G (p.Asn148Lys)single nucleotide variantPathogenicrs267607205GRCh37Chr 12, 52967118: 52967118
2KRT74KRT74, IVS8AS, G-A, -1single nucleotide variantPathogenic

Expression for genes affiliated with Woolly Hair, Autosomal Dominant

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Search GEO for disease gene expression data for Woolly Hair, Autosomal Dominant.

Pathways for genes affiliated with Woolly Hair, Autosomal Dominant

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GO Terms for genes affiliated with Woolly Hair, Autosomal Dominant

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Sources for Woolly Hair, Autosomal Dominant

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet