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

Sources

Aliases & Classifications for Woolly Hair, Autosomal Dominant

MalaCards integrated aliases for Woolly Hair, Autosomal Dominant:

Name: Woolly Hair, Autosomal Dominant ⁵⁷ ¹² ³⁸

Autosomal Dominant Woolly Hair ¹¹ ²⁸ ⁵ ¹⁴

Adwh ⁵⁷ ¹¹ ⁷³

Woolly Hair Autosomal Dominant ⁷³

Characteristics:

Inheritance:

Autosomal dominant ⁵⁷

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
hair phenotype present at birth and involves entire scalp region

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹¹ DOID:0111573

OMIM® ⁵⁷ 194300

MeSH ⁴³ D006201

SNOMED-CT ⁶⁸ 403794008

MedGen ⁴⁰ C1860238

SNOMED-CT via HPO ⁶⁹ 48610005 52564001 79395009

Sources

Summaries for Woolly Hair, Autosomal Dominant

OMIM®: ⁵⁷ Woolly hair (WH) refers to a group of hair shaft disorders that are characterized by fine and tightly curled hair. Compared to normal curly hair that is observed in some populations, WH grows slowly and stops growing after a few inches. Under light microscopy, WH shows some structural anomalies, including trichorrhexis nodosa and tapered ends. WH can appear as part of several syndromes, such as Naxos disease (601214) and cardiofaciocutaneous syndrome (115150) (summary by Petukhova et al., 2009). See 278150 for a discussion of genetic heterogeneity of autosomal recessive woolly hair. (194300) (Updated 08-Dec-2022)

MalaCards based summary: Woolly Hair, Autosomal Dominant, also known as autosomal dominant woolly hair, is related to hair disease and hypotrichosis 3. An important gene associated with Woolly Hair, Autosomal Dominant is KRT74 (Keratin 74), and among its related pathways/superpathways are Nervous system development and Keratinization. Related phenotypes are coarse hair and woolly hair

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.

Disease Ontology: ¹¹ A familial woolly hair syndrome that has material basis in heterozygous mutation in KRT74 on chromosome 12q13.13.

Sources

Related Diseases for Woolly Hair, Autosomal Dominant

Diseases in the Familial Woolly Hair Syndrome family:

Woolly Hair, Autosomal Dominant

Woolly Hair, Autosomal Recessive 3

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

(showing 32, show less)

#	Related Disease	Score	Top Affiliating Genes
1	hair disease	30.0	LPAR6 LIPH KRT74 KRT71
2	hypotrichosis 3	29.8	LPAR6 LIPH KRT74 KRT71
3	hypotrichosis 7	29.8	LPAR6 LIPH KRT74 KRT25
4	hypotrichosis	29.6	LPAR6 LIPH KRT74 KRT71 KRT25
5	hypotrichosis 13	29.2	LPAR6 LIPH KRT74 KRT71 KRT25
6	familial woolly hair syndrome	28.4	LPAR6 LIPH KRT85 KRT74 KRT73 KRT71
7	contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a	10.4
8	woolly hair, hypotrichosis, everted lower lip, and outstanding ears	10.4
9	helix syndrome	10.3
10	hypotrichosis 1	10.1	LIPH KRT74
11	mucinoses	10.1	KRT74 KRT71
12	nonsyndromic congenital nail disorder	10.0	KRT74 KRT71
13	hypotrichosis simplex	10.0	LPAR6 LIPH
14	hypotrichosis, congenital, with juvenile macular dystrophy	10.0	LPAR6 LIPH
15	ectodermal dysplasia 6, hair/nail type	9.9	KRT85 KRT74
16	ectodermal dysplasia 5, hair/nail type	9.9	KRT85 KRT74
17	hypotrichosis 11	9.9	LPAR6 LIPH KRT74
18	atrichia with papular lesions	9.9	LPAR6 LIPH KRT74
19	t-cell immunodeficiency, congenital alopecia, and nail dystrophy	9.9	LPAR6 LIPH KRT71
20	hypotrichosis 2	9.9	LPAR6 LIPH KRT74
21	ectodermal dysplasia 9, hair/nail type	9.8	KRT85 KRT74
22	nail disorder, nonsyndromic congenital, 4	9.8	KRT74 KRT71
23	ectodermal dysplasia 7, hair/nail type	9.8	KRT85 KRT74
24	ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive	9.8	KRT85 KRT74 KRT71
25	hypotrichosis 4	9.7	LPAR6 LIPH KRT74 KRT71
26	white sponge nevus 1	9.7	KRT85 KRT74 KRT73
27	woolly hair, autosomal recessive 3	9.7	LPAR6 LIPH KRT25
28	naegeli-franceschetti-jadassohn syndrome	9.6	KRT85 KRT74 KRT25
29	hypotrichosis 6	9.4	LPAR6 LIPH KRT85 KRT74 KRT71
30	hypotrichosis 8	9.0	LPAR6 LIPH KRT85 KRT74 KRT71 KRT25
31	monilethrix	9.0	LPAR6 LIPH KRT85 KRT74 KRT71 KRT25
32	ectodermal dysplasia 4, hair/nail type	9.0	LPAR6 LIPH KRT85 KRT74 KRT71 KRT27

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

Sources

Symptoms & Phenotypes for Woolly Hair, Autosomal Dominant

Human phenotypes related to Woolly Hair, Autosomal Dominant:

³⁰ (showing 4, show less)

#	Description	HPO Source Accession
1	coarse hair ³⁰	HP:0002208
2	woolly hair ³⁰	HP:0002224
3	slow-growing hair ³⁰	HP:0002217
4	dry hair ³⁰	HP:0011359

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Skin Nails Hair Hair:
coarse hair
dry hair
tightly curled scalp hair
slow-growing hair (growth stops at a few inches)
dystrophic anagen hairs
more

Clinical features from OMIM®:

194300 (Updated 08-Dec-2022)

Sources

Drugs & Therapeutics for Woolly Hair, Autosomal Dominant

Search Clinical Trials, NIH Clinical Center for Woolly Hair, Autosomal Dominant

Sources

Genetic Tests for Woolly Hair, Autosomal Dominant

Genetic tests related to Woolly Hair, Autosomal Dominant:

#	Genetic test	Affiliating Genes
1	Autosomal Dominant Woolly Hair ²⁸	KRT74

Sources

Anatomical Context for Woolly Hair, Autosomal Dominant

Sources

Publications for Woolly Hair, Autosomal Dominant

Articles related to Woolly Hair, Autosomal Dominant:

(showing 13, show less)

#	Title	Authors	PMID	Year
1	Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families. ⁶² ⁵⁷ ⁵	Wasif N...Ahmad W	21188418	2011
2	Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture. ⁶² ⁵⁷ ⁵	Shimomura Y...Christiano AM	20346438	2010
3	The effect of inbreeding on the distribution of compound heterozygotes: a lesson from Lipase H mutations in autosomal recessive woolly hair/hypotrichosis. ⁵⁷	Petukhova L...Christiano AM	19365138	2009
4	Hereditary woolly hair with ocular involvement. ⁵⁷	Taylor AE	2095184	1990
5	A family with diffuse partial woolly hair. ⁵⁷	Ormerod AD...Gregory DW	3567076	1987
6	Unruly hair. ⁵⁷	Mortimer PS	4063181	1985
7	Woolly hair--study of a family. ⁵⁷	Verbov J	668970	1978
8	A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis. ⁶²	Yu X...Li M	28899683	2018
9	Woolly Hair with Complete Atrioventricular Dissociation: A Rare Association. ⁶²	Sudhanan VM...Chaudhary SS	26180456	2015
10	Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis. ⁶²	Raykova D...Dahl N	24714551	2014
11	A splice variant in KRT71 is associated with curly coat phenotype of Selkirk Rex cats. ⁶²	Gandolfi B...Lyons LA	23770706	2013
12	Keratin 71 mutations: from water dogs to woolly hair. ⁶²	Harel S...Christiano AM	22971920	2012
13	A missense mutation within the helix initiation motif of the keratin K71 gene underlies autosomal dominant woolly hair/hypotrichosis. ⁶²	Fujimoto A...Shimomura Y	22592156	2012

Sources

Genes for Woolly Hair, Autosomal Dominant

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

(showing 9, show less)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	KRT74	Keratin 74	Protein Coding	1316.92	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)	20346438 21188418
2	KRT71	Keratin 71	Protein Coding	7.8	DISEASES inferred ¹⁴
3	LIPH	Lipase H	Protein Coding	7.79	DISEASES inferred ¹⁴
4	LPAR6	Lysophosphatidic Acid Receptor 6	Protein Coding	7.71	DISEASES inferred ¹⁴
5	KRT27	Keratin 27	Protein Coding	6.52	DISEASES inferred ¹⁴
6	KRT73	Keratin 73	Protein Coding	6.48	DISEASES inferred ¹⁴
7	KRT85	Keratin 85	Protein Coding	6.47	DISEASES inferred ¹⁴
8	KRT25	Keratin 25	Protein Coding	6.36	DISEASES inferred ¹⁴
9	KANK2	KN Motif And Ankyrin Repeat Domains 2	Protein Coding	5.68	DISEASES inferred ¹⁴

Sources

Variations for Woolly Hair, Autosomal Dominant

ClinVar genetic disease variations for Woolly Hair, Autosomal Dominant:

⁵ (showing 2, show less)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	KRT74	NM_175053.4(KRT74):c.444C>G (p.Asn148Lys)	SNV	Pathogenic	2460	rs267607205	GRCh37: 12:52967118-52967118 GRCh38: 12:52573334-52573334
2	KRT74	NM_175053.4(KRT74):c.1391-1G>A	SNV	Pathogenic	66968	rs267607478	GRCh37: 12:52960953-52960953 GRCh38: 12:52567169-52567169

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

⁷³ (showing 1, show less)

#	Symbol	AA change	Variation ID	SNP ID
1	KRT74	p.Asn148Lys	VAR_063587	rs267607205

Sources

Expression for Woolly Hair, Autosomal Dominant

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

Sources

Pathways for Woolly Hair, Autosomal Dominant

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

(showing 2, show less)

#	Super pathways	Score	Top Affiliating Genes
1	Nervous system development ⁶⁶ Show member pathways Axon guidance ⁶⁶ Developmental Biology ⁶⁶	12.79	KRT85 KRT74 KRT73 KRT71 KRT27 KRT25
2	Keratinization ⁶⁶ Show member pathways Formation of the cornified envelope ⁶⁶	11.64	KRT85 KRT74 KRT73 KRT71 KRT27 KRT25

Sources

GO Terms for Woolly Hair, Autosomal Dominant

Cellular components related to Woolly Hair, Autosomal Dominant according to GeneCards Suite gene sharing:

(showing 2, show less)

#	Name	GO ID	Score	Top Affiliating Genes
1	keratin filament	GO:0045095	9.65	KRT85 KRT74 KRT73 KRT71 KRT25
2	intermediate filament	GO:0005882	9.17	KRT85 KRT74 KRT73 KRT71 KRT27 KRT25

Biological processes related to Woolly Hair, Autosomal Dominant according to GeneCards Suite gene sharing:

(showing 3, show less)

#	Name	GO ID	Score	Top Affiliating Genes
1	hair follicle morphogenesis	GO:0031069	9.63	KRT71 KRT27 KRT25
2	keratinization	GO:0031424	9.56	KRT85 KRT74 KRT73 KRT71
3	intermediate filament organization	GO:0045109	9.4	KRT85 KRT74 KRT73 KRT71 KRT27 KRT25

Molecular functions related to Woolly Hair, Autosomal Dominant according to GeneCards Suite gene sharing:

(showing 2, show less)

#	Name	GO ID	Score	Top Affiliating Genes
1	structural molecule activity	GO:0005198	9.43	KRT85 KRT27 KRT25
2	structural constituent of skin epidermis	GO:0030280	9.23	KRT85 KRT74 KRT73 KRT71

Sources

Sources for Woolly Hair, Autosomal Dominant

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

ADWH MCID: WLL018 MIFTS: 31	Woolly Hair, Autosomal Dominant (ADWH) Categories: Genetic diseases, Rare diseases, Skin diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Related diseases Publications Symptoms & Phenotypes Collapse all tables

Woolly Hair, Autosomal Dominant (ADWH)

Aliases & Classifications for Woolly Hair, Autosomal Dominant

MalaCards integrated aliases for Woolly Hair, Autosomal Dominant:

Characteristics:

Inheritance:

OMIM®:

Classifications:

External Ids:

Summaries for Woolly Hair, Autosomal Dominant

Related Diseases for Woolly Hair, Autosomal Dominant

Diseases in the Familial Woolly Hair Syndrome family:

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

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

Symptoms & Phenotypes for Woolly Hair, Autosomal Dominant

Human phenotypes related to Woolly Hair, Autosomal Dominant:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Woolly Hair, Autosomal Dominant

Genetic Tests for Woolly Hair, Autosomal Dominant

Genetic tests related to Woolly Hair, Autosomal Dominant:

Anatomical Context for Woolly Hair, Autosomal Dominant

Publications for Woolly Hair, Autosomal Dominant

Articles related to Woolly Hair, Autosomal Dominant:

Genes for Woolly Hair, Autosomal Dominant

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

Variations for Woolly Hair, Autosomal Dominant

ClinVar genetic disease variations for Woolly Hair, Autosomal Dominant:

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

Expression for Woolly Hair, Autosomal Dominant

Pathways for Woolly Hair, Autosomal Dominant

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

GO Terms for Woolly Hair, Autosomal Dominant

Cellular components related to Woolly Hair, Autosomal Dominant according to GeneCards Suite gene sharing:

Biological processes related to Woolly Hair, Autosomal Dominant according to GeneCards Suite gene sharing:

Molecular functions related to Woolly Hair, Autosomal Dominant according to GeneCards Suite gene sharing:

Sources for Woolly Hair, Autosomal Dominant