ADWH
MCID: WLL018
MIFTS: 16

Woolly Hair, Autosomal Dominant (ADWH) malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Woolly Hair, Autosomal Dominant

Aliases & Descriptions for Woolly Hair, Autosomal Dominant:

Name: Woolly Hair, Autosomal Dominant 54 13
Woolly Hair Autosomal Dominant 66 29
Adwh 66

Characteristics:

HPO:

32
woolly hair, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 194300
MedGen 40 C1860238
MeSH 42 D006201

Summaries for Woolly Hair, Autosomal Dominant

OMIM : 54 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 slow-growing hair. An important gene associated with Woolly Hair, Autosomal Dominant is KRT74 (Keratin 74).

UniProtKB/Swiss-Prot : 66 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

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:

id Related Disease Score Top Affiliating Genes
1 hypotrichosis 8 10.9

Symptoms & Phenotypes for Woolly Hair, Autosomal Dominant

Symptoms by clinical synopsis from OMIM:

194300

Clinical features from OMIM:

194300

Human phenotypes related to Woolly Hair, Autosomal Dominant:

32
id Description HPO Frequency HPO Source Accession
1 coarse hair 32 HP:0002208
2 woolly hair 32 HP:0002224
3 slow-growing hair 32 HP:0002217
4 dry hair 32 HP:0011359

Drugs & Therapeutics for Woolly Hair, Autosomal Dominant

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

Genetic Tests for Woolly Hair, Autosomal Dominant

Genetic tests related to Woolly Hair, Autosomal Dominant:

id Genetic test Affiliating Genes
1 Woolly Hair, Autosomal Dominant 29

Anatomical Context for Woolly Hair, Autosomal Dominant

Publications for Woolly Hair, Autosomal Dominant

Variations for Woolly Hair, Autosomal Dominant

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

66
id Symbol AA change Variation ID SNP ID
1 KRT74 p.Asn148Lys VAR_063587 rs267607205

ClinVar genetic disease variations for Woolly Hair, Autosomal Dominant:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 KRT74 NM_175053.3(KRT74): c.444C> G (p.Asn148Lys) single nucleotide variant Pathogenic rs267607205 GRCh37 Chromosome 12, 52967118: 52967118
2 KRT74 KRT74, IVS8AS, G-A, -1 single nucleotide variant Pathogenic

Expression for Woolly Hair, Autosomal Dominant

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

Pathways for Woolly Hair, Autosomal Dominant

GO Terms for Woolly Hair, Autosomal Dominant

Sources for Woolly Hair, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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