ADWH
MCID: WLL018
MIFTS: 16

Woolly Hair, Autosomal Dominant (ADWH)

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Woolly Hair, Autosomal Dominant

MalaCards integrated aliases for Woolly Hair, Autosomal Dominant:

Name: Woolly Hair, Autosomal Dominant 58 30 13 6 41
Adwh 58 76
Woolly Hair Autosomal Dominant 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
hair phenotype present at birth and involves entire scalp region


HPO:

33
woolly hair, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 194300
MeSH 45 D006201
MedGen 43 C1860238

Summaries for Woolly Hair, Autosomal Dominant

OMIM : 58 Woolly hair (WH) refers to a group of hair shaft disorders that are characterized by fine and tightly curled hair. Compared to normal curly hair that is observed in some populations, WH grows slowly and stops growing after a few inches. Under light microscopy, WH shows some structural anomalies, including trichorrhexis nodosa and tapered ends. WH can appear as part of several syndromes, such as Naxos disease (601214) and cardiofaciocutaneous syndrome (115150) (summary by Petukhova et al., 2009). See 278150 for a discussion of genetic heterogeneity of autosomal recessive woolly hair. (194300)

MalaCards based summary : Woolly Hair, Autosomal Dominant, is also known as adwh. An important gene associated with Woolly Hair, Autosomal Dominant is KRT74 (Keratin 74). Related phenotypes are coarse hair and woolly hair

UniProtKB/Swiss-Prot : 76 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 3

Symptoms & Phenotypes for Woolly Hair, Autosomal Dominant

Human phenotypes related to Woolly Hair, Autosomal Dominant:

33
# Description HPO Frequency HPO Source Accession
1 coarse hair 33 HP:0002208
2 woolly hair 33 HP:0002224
3 slow-growing hair 33 HP:0002217
4 dry hair 33 HP:0011359

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Hair:
coarse hair
dry hair
tightly curled scalp hair
slow-growing hair (growth stops at a few inches)
dystrophic anagen hairs
more

Clinical features from OMIM:

194300

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:

# Genetic test Affiliating Genes
1 Woolly Hair, Autosomal Dominant 30 KRT74

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:

76
# Symbol AA change Variation ID SNP ID
1 KRT74 p.Asn148Lys VAR_063587 rs267607205

ClinVar genetic disease variations for Woolly Hair, Autosomal Dominant:

6
# 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 NM_175053.3(KRT74): c.444C> G (p.Asn148Lys) single nucleotide variant Pathogenic rs267607205 GRCh38 Chromosome 12, 52573334: 52573334
3 KRT74 NM_175053.3(KRT74): c.1391-1G> A single nucleotide variant Pathogenic rs267607478 GRCh37 Chromosome 12, 52960953: 52960953
4 KRT74 NM_175053.3(KRT74): c.1391-1G> A single nucleotide variant Pathogenic rs267607478 GRCh38 Chromosome 12, 52567169: 52567169

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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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