ADWH
MCID: WLL018
MIFTS: 32

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 57 29 13 6 39
Adwh 57 12 72
Autosomal Dominant Woolly Hair 12 15
Woolly Hair Autosomal Dominant 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

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


HPO:

31
woolly hair, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111573
OMIM® 57 194300
MeSH 44 D006201
MedGen 41 C1860238

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 20-May-2021)

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

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

UniProtKB/Swiss-Prot : 72 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 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 25)
# Related Disease Score Top Affiliating Genes
1 hypotrichosis 3 29.8 LPAR6 LIPH KRT74 KRT71
2 hypotrichosis 29.7 LPAR6 LIPH KRT74 KRT71 KRT25
3 hypotrichosis 13 29.6 LPAR6 LIPH KRT71 KRT25
4 familial woolly hair syndrome 28.6 LPAR6 LIPH KRT85 KRT74 KRT73 KRT71
5 helix syndrome 10.3
6 hypotrichosis simplex of the scalp 10.1
7 mucinoses 10.1 KRT74 KRT71
8 hypotrichosis, congenital, with juvenile macular dystrophy 10.0 LIPH KRT74
9 ectodermal dysplasia 6, hair/nail type 10.0 KRT85 KRT74
10 ectodermal dysplasia 5, hair/nail type 10.0 KRT85 KRT74
11 hypotrichosis 11 9.9 LPAR6 LIPH KRT74
12 ectodermal dysplasia 9, hair/nail type 9.9 KRT85 KRT74
13 t-cell immunodeficiency, congenital alopecia, and nail dystrophy 9.9 LPAR6 LIPH KRT71
14 hypotrichosis 4 9.9 LPAR6 LIPH KRT74
15 atrichia with papular lesions 9.9 LPAR6 LIPH KRT74
16 ectodermal dysplasia 7, hair/nail type 9.9 KRT85 KRT74
17 naegeli-franceschetti-jadassohn syndrome 9.8 KRT85 KRT25
18 hair disease 9.7 LPAR6 LIPH KRT74 KRT71
19 hypotrichosis simplex 9.7 LPAR6 LIPH KRT25
20 hypotrichosis 7 9.6 LPAR6 LIPH KRT74 KRT25
21 hypotrichosis 6 9.5 LPAR6 LIPH KRT85 KRT74 KRT71
22 tick infestation 9.4 KRT27 KRT25
23 hypotrichosis 8 9.3 LPAR6 LIPH KRT85 KRT74 KRT25
24 monilethrix 9.1 LPAR6 LIPH KRT85 KRT74 KRT71 KRT25
25 ectodermal dysplasia 4, hair/nail type 8.8 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:

31
# Description HPO Frequency HPO Source Accession
1 coarse hair 31 HP:0002208
2 woolly hair 31 HP:0002224
3 slow-growing hair 31 HP:0002217
4 dry hair 31 HP:0011359

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 20-May-2021)

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 29 KRT74

Anatomical Context for Woolly Hair, Autosomal Dominant

Publications for Woolly Hair, Autosomal Dominant

Articles related to Woolly Hair, Autosomal Dominant:

(show all 11)
# Title Authors PMID Year
1
Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families. 6 57 61
21188418 2011
2
Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture. 6 57 61
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
Woolly Hair with Complete Atrioventricular Dissociation: A Rare Association. 61
26180456 2015
9
Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis. 61
24714551 2014
10
A splice variant in KRT71 is associated with curly coat phenotype of Selkirk Rex cats. 61
23770706 2013
11
A missense mutation within the helix initiation motif of the keratin K71 gene underlies autosomal dominant woolly hair/hypotrichosis. 61
22592156 2012

Variations for Woolly Hair, Autosomal Dominant

ClinVar genetic disease variations for Woolly Hair, Autosomal Dominant:

6
# 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.219C>G (p.Tyr73Ter) SNV Pathogenic 997585 GRCh37: 12:52967343-52967343
GRCh38: 12:52573559-52573559
3 KRT74 NM_175053.4(KRT74):c.1391-1G>A SNV Pathogenic 66968 rs267607478 GRCh37: 12:52960953-52960953
GRCh38: 12:52567169-52567169
4 KRT74 NM_175053.4(KRT74):c.721G>T (p.Glu241Ter) SNV Pathogenic 1034382 GRCh37: 12:52965754-52965754
GRCh38: 12:52571970-52571970
5 KRT74 NM_175053.4(KRT74):c.1262_1271del (p.Met421fs) Deletion Pathogenic 1033212 GRCh37: 12:52962037-52962046
GRCh38: 12:52568253-52568262

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

72
# 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
12.64 KRT85 KRT74 KRT73 KRT71 KRT27 KRT25
2
Show member pathways
11.56 KRT85 KRT74 KRT73 KRT71 KRT27 KRT25
3 11.14 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 extracellular exosome GO:0070062 9.55 KRT74 KRT73 KRT71 KRT27 KRT25
2 keratin filament GO:0045095 9.26 KRT85 KRT74 KRT73 KRT71
3 intermediate filament GO:0005882 9.1 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 keratinization GO:0031424 9.43 KRT85 KRT74 KRT73 KRT71 KRT27 KRT25
2 hair follicle morphogenesis GO:0031069 9.33 KRT71 KRT27 KRT25
3 intermediate filament organization GO:0045109 9.26 KRT71 KRT25
4 cornification GO:0070268 9.1 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 8.8 KRT85 KRT27 KRT25

Sources for Woolly Hair, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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