ARWH3
MCID: WLL035
MIFTS: 25

Woolly Hair, Autosomal Recessive 3 (ARWH3)

Categories: Genetic diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Woolly Hair, Autosomal Recessive 3

MalaCards integrated aliases for Woolly Hair, Autosomal Recessive 3:

Name: Woolly Hair, Autosomal Recessive 3 57 28 5 38
Arwh3 57 11 73
Woolly Hair, Autosomal Recessive 3, with Hypotrichosis 57 73
Autosomal Recessive Woolly Hair 3 11 14
Woolly Hair Autosomal Recessive 3 73

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
hair is soft, short, and sparse initially, but develops into woolly hair in early childhood
abnormalities observed in 70% of hair shafts examined
affected individuals cut hair only once every 3 to 4 years


Classifications:



External Ids:

Disease Ontology 11 DOID:0111574
OMIM® 57 616760
MeSH 43 D006201

Summaries for Woolly Hair, Autosomal Recessive 3

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. Some individuals may present with hypotrichosis.

MalaCards based summary: Woolly Hair, Autosomal Recessive 3, also known as arwh3, is related to hypotrichosis simplex and hypotrichosis 3. An important gene associated with Woolly Hair, Autosomal Recessive 3 is KRT25 (Keratin 25). Related phenotypes are sparse scalp hair and fine hair

Disease Ontology: 11 A familial woolly hair syndrome that has material basis in homozygous or compound heterozygous mutation in KRT24 on chromosome 17q21.2.

More information from OMIM: 616760

Related Diseases for Woolly Hair, Autosomal Recessive 3

Graphical network of the top 20 diseases related to Woolly Hair, Autosomal Recessive 3:



Diseases related to Woolly Hair, Autosomal Recessive 3

Symptoms & Phenotypes for Woolly Hair, Autosomal Recessive 3

Human phenotypes related to Woolly Hair, Autosomal Recessive 3:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sparse scalp hair 30 HP:0002209
2 fine hair 30 HP:0002213
3 trichorrhexis nodosa 30 HP:0009886
4 sparse eyelashes 30 HP:0000653
5 curly hair 30 HP:0002212

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skin Nails Hair Hair:
trichorrhexis nodosa
tightly curled scalp hair
thin hair
gradient reduction of hair density from occipital area to frontal region
variable hair shaft diameter
more
Head And Neck Eyes:
sparse eyelashes (in some patients)

Clinical features from OMIM®:

616760 (Updated 08-Dec-2022)

Drugs & Therapeutics for Woolly Hair, Autosomal Recessive 3

Search Clinical Trials, NIH Clinical Center for Woolly Hair, Autosomal Recessive 3

Genetic Tests for Woolly Hair, Autosomal Recessive 3

Genetic tests related to Woolly Hair, Autosomal Recessive 3:

# Genetic test Affiliating Genes
1 Woolly Hair, Autosomal Recessive 3 28 KRT25

Anatomical Context for Woolly Hair, Autosomal Recessive 3

Publications for Woolly Hair, Autosomal Recessive 3

Articles related to Woolly Hair, Autosomal Recessive 3:

# Title Authors PMID Year
1
Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles. 57 5
26902920 2016
2
A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair. 57 5
26160856 2015
3
Isolated autosomal recessive woolly hair/hypotrichosis: genetics, pathogenesis and therapies. 62
33988877 2021

Variations for Woolly Hair, Autosomal Recessive 3

ClinVar genetic disease variations for Woolly Hair, Autosomal Recessive 3:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KRT25 NM_181534.4(KRT25):c.950T>C (p.Leu317Pro) SNV Pathogenic
217303 rs766783183 GRCh37: 17:38907213-38907213
GRCh38: 17:40750961-40750961
2 KRT25 NM_181534.4(KRT25):c.712G>T (p.Val238Leu) SNV Pathogenic
242934 rs879253749 GRCh37: 17:38907536-38907536
GRCh38: 17:40751284-40751284
3 IRS1 NM_005544.3(IRS1):c.158G>A (p.Trp53Ter) SNV Likely Pathogenic
804395 rs1574667668 GRCh37: 2:227663297-227663297
GRCh38: 2:226798581-226798581

UniProtKB/Swiss-Prot genetic disease variations for Woolly Hair, Autosomal Recessive 3:

73
# Symbol AA change Variation ID SNP ID
1 KRT25 p.Val238Leu VAR_076303 rs879253749
2 KRT25 p.Leu317Pro VAR_076304 rs766783183
3 KRT25 p.Leu376Arg VAR_079711

Expression for Woolly Hair, Autosomal Recessive 3

Search GEO for disease gene expression data for Woolly Hair, Autosomal Recessive 3.

Pathways for Woolly Hair, Autosomal Recessive 3

GO Terms for Woolly Hair, Autosomal Recessive 3

Sources for Woolly Hair, Autosomal Recessive 3

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 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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