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 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:

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

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹¹ DOID:0111574

OMIM® ⁵⁷ 616760

MeSH ⁴³ D006201

MedGen ⁴⁰ C4225214 CN234890

SNOMED-CT via HPO ⁶⁹ 22486004 225570000 238736006 more

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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

Sources

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:

(show all 18)

#	Related Disease	Score	Top Affiliating Genes
1	hypotrichosis simplex	9.8	LPAR6 LIPH
2	hypotrichosis 3	9.7	LPAR6 LIPH
3	hypotrichosis 11	9.7	LPAR6 LIPH
4	t-cell immunodeficiency, congenital alopecia, and nail dystrophy	9.7	LPAR6 LIPH
5	hypotrichosis, congenital, with juvenile macular dystrophy	9.7	LPAR6 LIPH
6	hypotrichosis 6	9.7	LPAR6 LIPH
7	hypotrichosis 4	9.7	LPAR6 LIPH
8	hypotrichosis 2	9.6	LPAR6 LIPH
9	ectodermal dysplasia 4, hair/nail type	9.6	LPAR6 LIPH
10	hypotrichosis 7	9.6	LPAR6 LIPH KRT25
11	woolly hair, autosomal dominant	9.5	LPAR6 LIPH KRT25
12	hypotrichosis 8	9.5	LPAR6 LIPH KRT25
13	monilethrix	9.5	LPAR6 LIPH KRT25
14	hair disease	9.5	LPAR6 LIPH
15	atrichia with papular lesions	9.5	LPAR6 LIPH C3orf52
16	hypotrichosis 13	9.3	LPAR6 LIPH KRT25 IRS1
17	hypotrichosis	9.2	LPAR6 LIPH KRT25 C3orf52
18	familial woolly hair syndrome	9.2	LPAR6 LIPH KRT25 C3orf52

Graphical network of the top 20 diseases related to 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:

³⁰

#	Description	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)

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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	Woolly Hair, Autosomal Recessive 3 ²⁸	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 ⁵	Zernov NV...Zinchenko RA	26902920	2016
2	A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair. ⁵⁷ ⁵	Ansar M...Leal SM	26160856	2015
3	Isolated autosomal recessive woolly hair/hypotrichosis: genetics, pathogenesis and therapies. ⁶²	Akiyama M	33988877	2021

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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	1315.74	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)	26160856 26902920
2	IRS1	Insulin Receptor Substrate 1	Protein Coding	25	Likely pathogenic ⁵
3	C3orf52	Chromosome 3 Open Reading Frame 52	Protein Coding	8.26	DISEASES inferred ¹⁴
4	LIPH	Lipase H	Protein Coding	7.15	DISEASES inferred ¹⁴
5	LPAR6	Lysophosphatidic Acid Receptor 6	Protein Coding	6.76	DISEASES inferred ¹⁴

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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

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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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Sources for Woolly Hair, Autosomal Recessive 3

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

ARWH3 MCID: WLL035 MIFTS: 25	Woolly Hair, Autosomal Recessive 3 (ARWH3) Categories: Genetic diseases, Rare diseases, Skin diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Related diseases Publications Symptoms & Phenotypes Expand all tables

Woolly Hair, Autosomal Recessive 3 (ARWH3)

Aliases & Classifications for Woolly Hair, Autosomal Recessive 3

MalaCards integrated aliases for Woolly Hair, Autosomal Recessive 3:

Characteristics:

Inheritance:

OMIM®:

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:

Graphical network of the top 20 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:

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

GO Terms for Woolly Hair, Autosomal Recessive 3

Sources for Woolly Hair, Autosomal Recessive 3