Woolly Hair, Autosomal Recessive 3 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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 ⁵⁸

Woolly Hair, Autosomal Recessive 3, with Hypotrichosis ⁵⁸ ⁷⁶

Arwh3 ⁵⁸ ⁷⁶

Woolly Hair Autosomal Recessive 3 ⁷⁶

Autosomal Recessive Woolly Hair 3 ⁶

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal recessive

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

HPO:

³³

woolly hair, autosomal recessive 3:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Skin diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁸ 616760

MeSH ⁴⁵ D006201

MedGen ⁴³ C4225214 CN234890

SNOMED-CT via HPO ⁷⁰ 22486004 225570000 238736006 more

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Summaries for Woolly Hair, Autosomal Recessive 3

UniProtKB/Swiss-Prot : ⁷⁶ Woolly hair autosomal recessive 3: 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, is also known as woolly hair, autosomal recessive 3, with hypotrichosis. An important gene associated with Woolly Hair, Autosomal Recessive 3 is KRT25 (Keratin 25). Affiliated tissues include skin, and related phenotypes are hypotrichosis and sparse scalp hair

Description from OMIM: 616760

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Related Diseases for Woolly Hair, Autosomal Recessive 3

Diseases in the Woolly Hair Syndrome family:

Woolly Hair, Autosomal Dominant

Woolly Hair, Autosomal Recessive 3

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Symptoms & Phenotypes for Woolly Hair, Autosomal Recessive 3

Human phenotypes related to Woolly Hair, Autosomal Recessive 3:

³³ (show all 6)

#	Description	HPO Source Accession
1	hypotrichosis ³³	HP:0001006
2	sparse scalp hair ³³	HP:0002209
3	fine hair ³³	HP:0002213
4	curly hair ³³	HP:0002212
5	trichorrhexis nodosa ³³	HP:0009886
6	sparse eyelashes ³³	HP:0000653

Symptoms via clinical synopsis from OMIM:

⁵⁸

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

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Drugs & Therapeutics for Woolly Hair, Autosomal Recessive 3

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

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Genetic Tests for Woolly Hair, Autosomal Recessive 3

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Anatomical Context for Woolly Hair, Autosomal Recessive 3

MalaCards organs/tissues related to Woolly Hair, Autosomal Recessive 3:

⁴²

Skin

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Publications for Woolly Hair, Autosomal Recessive 3

Articles related to Woolly Hair, Autosomal Recessive 3:

#	Title	Authors	Year
1	Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles. ( 26902920 )	Zernov NV...Zinchenko RA	2016
2	A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair. ( 26160856 )	Ansar M...Leal SM	2015

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Genes for Woolly Hair, Autosomal Recessive 3

Genes related to Woolly Hair, Autosomal Recessive 3 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	KRT25	Keratin 25	Protein Coding	1228.08	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ GeneCards inferred via : Disorders Variants (show sections)	26160856 26902920

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Variations for Woolly Hair, Autosomal Recessive 3

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

⁷⁶

#	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

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

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	KRT25	NM_181534.3(KRT25): c.950T> C (p.Leu317Pro)	single nucleotide variant	Pathogenic	rs766783183	GRCh37	Chromosome 17, 38907213: 38907213
2	KRT25	NM_181534.3(KRT25): c.950T> C (p.Leu317Pro)	single nucleotide variant	Pathogenic	rs766783183	GRCh38	Chromosome 17, 40750961: 40750961
3	KRT25	NM_181534.3(KRT25): c.712G> T (p.Val238Leu)	single nucleotide variant	Pathogenic	rs879253749	GRCh37	Chromosome 17, 38907536: 38907536
4	KRT25	NM_181534.3(KRT25): c.712G> T (p.Val238Leu)	single nucleotide variant	Pathogenic	rs879253749	GRCh38	Chromosome 17, 40751284: 40751284

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Expression for Woolly Hair, Autosomal Recessive 3

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

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Pathways for Woolly Hair, Autosomal Recessive 3

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GO Terms for Woolly Hair, Autosomal Recessive 3

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Woolly Hair, Autosomal Recessive 3 (ARWH3)

Aliases & Classifications for Woolly Hair, Autosomal Recessive 3

MalaCards integrated aliases for Woolly Hair, Autosomal Recessive 3:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Woolly Hair, Autosomal Recessive 3

Related Diseases for Woolly Hair, Autosomal Recessive 3

Diseases in the Woolly Hair Syndrome family:

Symptoms & Phenotypes for Woolly Hair, Autosomal Recessive 3

Human phenotypes related to Woolly Hair, Autosomal Recessive 3:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Woolly Hair, Autosomal Recessive 3

Genetic Tests for Woolly Hair, Autosomal Recessive 3

Anatomical Context for Woolly Hair, Autosomal Recessive 3

MalaCards organs/tissues related to Woolly Hair, Autosomal Recessive 3:

Publications for Woolly Hair, Autosomal Recessive 3

Articles related to Woolly Hair, Autosomal Recessive 3:

Genes for Woolly Hair, Autosomal Recessive 3

Genes related to Woolly Hair, Autosomal Recessive 3 (1 elite genes):

Variations for Woolly Hair, Autosomal Recessive 3

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

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

Expression 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