MCID: WLL018
MIFTS: 17

Woolly Hair, Autosomal Dominant malady

Genetic diseases, Rare diseases, Skin diseases categories

Aliases & Classifications for Woolly Hair, Autosomal Dominant

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Aliases & Descriptions for Woolly Hair, Autosomal Dominant:

Name: Woolly Hair, Autosomal Dominant 49 11
Woolly Hair Autosomal Dominant 67
 
Adwh 67


Classifications:



External Ids:

OMIM49 194300
MedGen34 C1860238
MeSH36 D006201

Summaries for Woolly Hair, Autosomal Dominant

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OMIM:49 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 autosomal dominant inheritance, coarse hair and woolly hair. An important gene associated with Woolly Hair, Autosomal Dominant is KRT74 (Keratin 74, Type II). Affiliated tissues include skin.

UniProtKB/Swiss-Prot:67 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

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

idRelated DiseaseScoreTop Affiliating Genes
1hypotrichosis 810.1

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 autosomal dominant inheritance HP:0000006
2 coarse hair HP:0002208
3 woolly hair HP:0002224
4 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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Anatomical Context for Woolly Hair, Autosomal Dominant

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MalaCards organs/tissues related to Woolly Hair, Autosomal Dominant:

33
Skin

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:

67
id Symbol AA change Variation ID SNP ID
1KRT74p.Asn148LysVAR_063587

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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet