ADWH
MCID: WLL018
MIFTS: 31

Woolly Hair, Autosomal Dominant (ADWH)

Categories: Genetic diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Woolly Hair, Autosomal Dominant

MalaCards integrated aliases for Woolly Hair, Autosomal Dominant:

Name: Woolly Hair, Autosomal Dominant 57 12 38
Autosomal Dominant Woolly Hair 11 28 5 14
Adwh 57 11 73
Woolly Hair Autosomal Dominant 73

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
hair phenotype present at birth and involves entire scalp region


Classifications:



External Ids:

Disease Ontology 11 DOID:0111573
OMIM® 57 194300
MeSH 43 D006201
SNOMED-CT 68 403794008
MedGen 40 C1860238
SNOMED-CT via HPO 69 48610005 52564001 79395009

Summaries for Woolly Hair, Autosomal Dominant

OMIM®: 57 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) (Updated 24-Oct-2022)

MalaCards based summary: Woolly Hair, Autosomal Dominant, also known as autosomal dominant woolly hair, is related to hair disease and hypotrichosis 3. An important gene associated with Woolly Hair, Autosomal Dominant is KRT74 (Keratin 74), and among its related pathways/superpathways are Nervous system development and Keratinization. Related phenotypes are coarse hair and woolly hair

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 A familial woolly hair syndrome that has material basis in heterozygous mutation in KRT74 on chromosome 12q13.13.

Related Diseases for Woolly Hair, Autosomal Dominant

Diseases in the Familial Woolly Hair Syndrome family:

Woolly Hair, Autosomal Dominant Woolly Hair, Autosomal Recessive 3

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

(show all 32)
# Related Disease Score Top Affiliating Genes
1 hair disease 30.0 LPAR6 LIPH KRT74 KRT71
2 hypotrichosis 3 29.8 LPAR6 LIPH KRT74 KRT71
3 hypotrichosis 7 29.8 LPAR6 LIPH KRT74 KRT25
4 hypotrichosis 29.6 LPAR6 LIPH KRT74 KRT71 KRT25
5 hypotrichosis 13 29.2 LPAR6 LIPH KRT74 KRT71 KRT25
6 familial woolly hair syndrome 28.4 LPAR6 LIPH KRT85 KRT74 KRT73 KRT71
7 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.4
8 woolly hair, hypotrichosis, everted lower lip, and outstanding ears 10.4
9 helix syndrome 10.3
10 hypotrichosis 1 10.1 LIPH KRT74
11 mucinoses 10.1 KRT74 KRT71
12 nonsyndromic congenital nail disorder 10.0 KRT74 KRT71
13 hypotrichosis simplex 10.0 LPAR6 LIPH
14 hypotrichosis, congenital, with juvenile macular dystrophy 10.0 LPAR6 LIPH
15 ectodermal dysplasia 6, hair/nail type 9.9 KRT85 KRT74
16 ectodermal dysplasia 5, hair/nail type 9.9 KRT85 KRT74
17 hypotrichosis 11 9.9 LPAR6 LIPH KRT74
18 atrichia with papular lesions 9.9 LPAR6 LIPH KRT74
19 t-cell immunodeficiency, congenital alopecia, and nail dystrophy 9.9 LPAR6 LIPH KRT71
20 hypotrichosis 2 9.9 LPAR6 LIPH KRT74
21 ectodermal dysplasia 9, hair/nail type 9.8 KRT85 KRT74
22 nail disorder, nonsyndromic congenital, 4 9.8 KRT74 KRT71
23 ectodermal dysplasia 7, hair/nail type 9.8 KRT85 KRT74
24 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 9.8 KRT85 KRT74 KRT71
25 hypotrichosis 4 9.7 LPAR6 LIPH KRT74 KRT71
26 white sponge nevus 1 9.7 KRT85 KRT74 KRT73
27 woolly hair, autosomal recessive 3 9.7 LPAR6 LIPH KRT25
28 naegeli-franceschetti-jadassohn syndrome 9.6 KRT85 KRT74 KRT25
29 hypotrichosis 6 9.4 LPAR6 LIPH KRT85 KRT74 KRT71
30 hypotrichosis 8 9.0 LPAR6 LIPH KRT85 KRT74 KRT71 KRT25
31 monilethrix 9.0 LPAR6 LIPH KRT85 KRT74 KRT71 KRT25
32 ectodermal dysplasia 4, hair/nail type 9.0 LPAR6 LIPH KRT85 KRT74 KRT71 KRT27

Graphical network of the top 20 diseases related to Woolly Hair, Autosomal Dominant:



Diseases related to Woolly Hair, Autosomal Dominant

Symptoms & Phenotypes for Woolly Hair, Autosomal Dominant

Human phenotypes related to Woolly Hair, Autosomal Dominant:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 coarse hair 30 HP:0002208
2 woolly hair 30 HP:0002224
3 slow-growing hair 30 HP:0002217
4 dry hair 30 HP:0011359

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
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 (Updated 24-Oct-2022)

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 Autosomal Dominant Woolly Hair 28 KRT74

Anatomical Context for Woolly Hair, Autosomal Dominant

Publications for Woolly Hair, Autosomal Dominant

Articles related to Woolly Hair, Autosomal Dominant:

(show all 13)
# Title Authors PMID Year
1
Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families. 62 57 5
21188418 2011
2
Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture. 62 57 5
20346438 2010
3
The effect of inbreeding on the distribution of compound heterozygotes: a lesson from Lipase H mutations in autosomal recessive woolly hair/hypotrichosis. 57
19365138 2009
4
Hereditary woolly hair with ocular involvement. 57
2095184 1990
5
A family with diffuse partial woolly hair. 57
3567076 1987
6
Unruly hair. 57
4063181 1985
7
Woolly hair--study of a family. 57
668970 1978
8
A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis. 62
28899683 2018
9
Woolly Hair with Complete Atrioventricular Dissociation: A Rare Association. 62
26180456 2015
10
Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis. 62
24714551 2014
11
A splice variant in KRT71 is associated with curly coat phenotype of Selkirk Rex cats. 62
23770706 2013
12
Keratin 71 mutations: from water dogs to woolly hair. 62
22971920 2012
13
A missense mutation within the helix initiation motif of the keratin K71 gene underlies autosomal dominant woolly hair/hypotrichosis. 62
22592156 2012

Variations for Woolly Hair, Autosomal Dominant

ClinVar genetic disease variations for Woolly Hair, Autosomal Dominant:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KRT74 NM_175053.4(KRT74):c.444C>G (p.Asn148Lys) SNV Pathogenic
2460 rs267607205 GRCh37: 12:52967118-52967118
GRCh38: 12:52573334-52573334
2 KRT74 NM_175053.4(KRT74):c.1391-1G>A SNV Pathogenic
66968 rs267607478 GRCh37: 12:52960953-52960953
GRCh38: 12:52567169-52567169

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

73
# Symbol AA change Variation ID SNP ID
1 KRT74 p.Asn148Lys VAR_063587 rs267607205

Expression for Woolly Hair, Autosomal Dominant

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

Pathways for Woolly Hair, Autosomal Dominant

Pathways related to Woolly Hair, Autosomal Dominant according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.79 KRT85 KRT74 KRT73 KRT71 KRT27 KRT25
2
Show member pathways
11.64 KRT85 KRT74 KRT73 KRT71 KRT27 KRT25

GO Terms for Woolly Hair, Autosomal Dominant

Cellular components related to Woolly Hair, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 keratin filament GO:0045095 9.65 KRT85 KRT74 KRT73 KRT71 KRT25
2 intermediate filament GO:0005882 9.17 KRT85 KRT74 KRT73 KRT71 KRT27 KRT25

Biological processes related to Woolly Hair, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hair follicle morphogenesis GO:0031069 9.63 KRT71 KRT27 KRT25
2 keratinization GO:0031424 9.56 KRT85 KRT74 KRT73 KRT71
3 intermediate filament organization GO:0045109 9.4 KRT85 KRT74 KRT73 KRT71 KRT27 KRT25

Molecular functions related to Woolly Hair, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 9.43 KRT85 KRT27 KRT25
2 structural constituent of skin epidermis GO:0030280 9.23 KRT85 KRT74 KRT73 KRT71

Sources for Woolly Hair, Autosomal Dominant

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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