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 ⁵⁷

Autosomal Recessive Woolly Hair 3 ¹² ²⁹ ⁶

Arwh3 ⁵⁷ ¹² ⁷³

Woolly Hair, Autosomal Recessive 3, with Hypotrichosis ⁵⁷ ⁷³

Woolly Hair Autosomal Recessive 3 ⁷³

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

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® ⁵⁷ 616760

MeSH ⁴⁴ 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, also known as autosomal recessive woolly hair 3, is related to hypotrichosis 13 and hypotrichosis. An important gene associated with Woolly Hair, Autosomal Recessive 3 is KRT25 (Keratin 25), and among its related pathways/superpathways is Relaxin signaling pathway. Related phenotypes are sparse scalp hair and fine 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

Diseases related to Woolly Hair, Autosomal Recessive 3 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	hypotrichosis 13	9.6	KRT25 IRS1
2	hypotrichosis	9.6	KRT25 IRS1
3	familial woolly hair syndrome	9.5	KRT25 IRS1

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Symptoms & Phenotypes for Woolly Hair, Autosomal Recessive 3

Human phenotypes related to Woolly Hair, Autosomal Recessive 3:

³¹

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

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

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 05-Mar-2021)

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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

Genetic tests related to Woolly Hair, Autosomal Recessive 3:

#	Genetic test	Affiliating Genes
1	Autosomal Recessive Woolly Hair 3 ²⁹	KRT25

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Anatomical Context for Woolly Hair, Autosomal Recessive 3

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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. ⁵⁷ ⁶	Zernov NV...Zinchenko RA	26902920	2016
2	A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair. ⁵⁷ 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	PubMed IDs
1	KRT25	Keratin 25	Protein Coding	1317.43	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	26902920
2	IRS1	Insulin Receptor Substrate 1	Protein Coding	25	Likely pathogenic ⁶

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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.712G>T (p.Val238Leu)	SNV	Pathogenic	242934	rs879253749	17:38907536-38907536	17:40751284-40751284
2	KRT25	NM_181534.4(KRT25):c.950T>C (p.Leu317Pro)	SNV	Pathogenic	217303	rs766783183	17:38907213-38907213	17:40750961-40750961
3	IRS1	NM_005544.2(IRS1):c.158G>A (p.Trp53Ter)	SNV	Likely pathogenic	804395	rs1574667668	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

Pathways related to Woolly Hair, Autosomal Recessive 3 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Relaxin signaling pathway ³⁶ Show member pathways Estrogen signaling pathway ³⁶ Growth hormone synthesis, secretion and action ³⁶ Relaxin receptors ⁶⁵	11.22	KRT25 IRS1

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GO Terms for Woolly Hair, Autosomal Recessive 3

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Sources for Woolly Hair, Autosomal Recessive 3

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

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¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

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:

Diseases related to Woolly Hair, Autosomal Recessive 3 via text searches within MalaCards or GeneCards Suite gene sharing:

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

Genetic tests related to Woolly Hair, Autosomal Recessive 3:

Anatomical Context for 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

Pathways related to Woolly Hair, Autosomal Recessive 3 according to GeneCards Suite gene sharing:

GO Terms for Woolly Hair, Autosomal Recessive 3

Sources for Woolly Hair, Autosomal Recessive 3