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 ⁵⁶

Arwh3 ⁵⁶ ¹² ⁷³

Woolly Hair, Autosomal Recessive 3, with Hypotrichosis ⁵⁶ ⁷³

Autosomal Recessive Woolly Hair 3 ¹² ⁶

Woolly Hair Autosomal Recessive 3 ⁷³

Characteristics:

OMIM:

⁵⁶

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:

³¹

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:

Disease Ontology ¹² DOID:0111574

OMIM ⁵⁶ 616760

MeSH ⁴³ D006201

MedGen ⁴¹ C4225214 CN234890

SNOMED-CT via HPO ⁶⁸ 22486004 225570000 238736006 more

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Summaries for Woolly Hair, Autosomal Recessive 3

UniProtKB/Swiss-Prot : ⁷³ 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 arwh3. 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

Disease Ontology : ¹² 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

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Related Diseases for Woolly Hair, Autosomal Recessive 3

Diseases in the Familial 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:

³¹ (show all 6)

#	Description	HPO Source Accession
1	hypotrichosis ³¹	HP:0001006
2	sparse scalp hair ³¹	HP:0002209
3	fine hair ³¹	HP:0002213
4	curly hair ³¹	HP:0002212
5	trichorrhexis nodosa ³¹	HP:0009886
6	sparse eyelashes ³¹	HP:0000653

Symptoms via clinical synopsis from OMIM:

⁵⁶

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:

⁴⁰

Skin

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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. ⁵⁶ ⁶	Zernov NV...Zinchenko RA	26902920	2016
2	A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair. ⁵⁶ ⁶	Ansar M...Leal SM	26160856	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	1218.01	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ GeneCards inferred via : Disorders Variants (show sections)	26160856 26902920

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Variations for Woolly Hair, Autosomal Recessive 3

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

⁶ ‎‎ ‎‎ ‎‎

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

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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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⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

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 Familial 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

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

UniProtKB/Swiss-Prot 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