MCID: WLL018
MIFTS: 37

Woolly Hair, Autosomal Dominant malady

Genetic diseases, Skin diseases, Rare diseases categories

Summaries for Woolly Hair, Autosomal Dominant

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OMIM:46 Woolly hair (WH) refers to a group of hair shaft disorders that are characterized by fine and tightly curled hair.... (194300) more...

MalaCards based summary: Woolly Hair, Autosomal Dominant, also known as woolly hair, is related to hypotrichosis and woolly hair nevus, and has symptoms including fine hair, woolly hair and slow-growing hair. An important gene associated with Woolly Hair, Autosomal Dominant is KRT74 (keratin 74). The compounds LPA(18:0e/0:0) and LPA(P-16:0e/0:0) have been mentioned in the context of this disorder. Affiliated tissues include skin.

Descriptions from OMIM:46 278150,604379,615896

Aliases & Classifications for Woolly Hair, Autosomal Dominant

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Sources:
46OMIM, 48Orphanet, 61UMLS, 35MESH via Orphanet, 27ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Woolly Hair, Autosomal Dominant, Aliases & Descriptions:

Name: Woolly Hair, Autosomal Dominant 46
Woolly Hair 48 61
Wooly Hair 48 61
Hereditary Woolly Hair Syndrome 48
 
Hereditary Wooly Hair Syndrome 48
Familial Woolly Hair Syndrome 48
Familial Wooly Hair Syndrome 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Skin diseases
Orphanet: 48 
Rare skin diseases


Characteristics (Orphanet epidemiological data):

48
woolly hair:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Neonatal/infancy; Age of death: Normal


External Ids:

MESH via Orphanet35 C536745
ICD10 via Orphanet27 Q84.1
UMLS via Orphanet62 C0343073, C0345427

Related Diseases for Woolly Hair, Autosomal Dominant

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Diseases in the Woolly Hair, Autosomal Dominant family:

Woolly Hair Syndrome Woolly Hair, Autosomal Recessive

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

(show all 36)
idRelated DiseaseScoreTop Affiliating Genes
1hypotrichosis30.4KRT74, KRT71, LPAR6, LIPH
2woolly hair nevus10.8
3cardiomyopathy dilated with woolly hair and keratoderma10.7
4skin fragility woolly hair syndrome10.7
5keratoderma10.7
6woolly hair syndrome10.6
7naxos disease10.6
8autosomal recessive hypotrichosis10.6
9woolly hair hypotrichosis everted lower lip and outstanding ears10.5
10hypotrichosis 810.5
11dilated cardiomyopathy10.4
12arrhythmogenic right ventricular cardiomyopathy10.4
13keratosis10.4
14hypotrichosis simplex10.4
15epidermal nevus10.4
16alopecia10.3
17nonepidermolytic palmoplantar keratoderma10.3
18woolly hair, autosomal recessive10.3
19woolly hair, autosomal recessive 2 with or without hypotrichosis10.3
20woolly hair, autosomal recessive 1, with or without hypotrichosis10.3
21arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair10.3
22ectodermal dysplasia10.1
23keratosis follicularis10.1
24cleft palate10.1
25epidermolysis bullosa simplex10.1
26pachyonychia congenita10.1
27alopecia areata10.1
28amblyopia10.1
29epidermolysis bullosa10.1
30hair disease10.1
31epidermolysis bullosa simplex with mottled pigmentation10.1
32ichthyosis, follicular10.1
33keratosis follicularis spinulosa decalvans10.1
34precocious puberty10.1
35central precocious puberty10.1
36trichohepatoenteric syndrome 110.1

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



Diseases related to woolly hair, autosomal dominant

Symptoms for Woolly Hair, Autosomal Dominant

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Symptoms by clinical synopsis from OMIM:

194300

Clinical features from OMIM:

194300,278150,604379,615896

Symptoms:

 48 (show all 14)
  • abnormal hair texture/hair dysplasia
  • fine hair
  • woolly/frizzy hair
  • brittle hair/distrix/trichorrhexis
  • autosomal dominant inheritance
  • decreased hair pigmentation/hypopigmentation of hair
  • slow growth of the hair
  • pupillary anomalies/mydriasis/myosis/tonic pupil
  • cataract/lens opacification
  • retinal vascular anomalies/retinal telangiectasia
  • strabismus/squint
  • absent/decreased/thin eyebrows
  • decreased body hair/axillar/pubic hairlessness
  • autosomal recessive inheritance

HPO human phenotypes related to Woolly Hair, Autosomal Dominant:

(show all 13)
id Description Frequency HPO Source Accession
1 fine hair hallmark (90%) HP:0002213
2 woolly hair hallmark (90%) HP:0002224
3 slow-growing hair typical (50%) HP:0002217
4 hypopigmentation of hair typical (50%) HP:0005599
5 strabismus occasional (7.5%) HP:0000486
6 cataract occasional (7.5%) HP:0000518
7 abnormality of the pupil occasional (7.5%) HP:0000615
8 abnormality of the retinal vasculature occasional (7.5%) HP:0008046
9 abnormal hair quantity occasional (7.5%) HP:0011362
10 aplasia/hypoplasia of the eyebrow occasional (7.5%) HP:0100840
11 autosomal dominant inheritance HP:0000006
12 coarse hair HP:0002208
13 dry hair HP:0011359

Drugs & Therapeutics for Woolly Hair, Autosomal Dominant

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Drug clinical trials:

Search ClinicalTrials for Woolly Hair, Autosomal Dominant

Search NIH Clinical Center for Woolly Hair, Autosomal Dominant

Genetic Tests for Woolly Hair, Autosomal Dominant

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Anatomical Context for Woolly Hair, Autosomal Dominant

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MalaCards organs/tissues related to Woolly Hair, Autosomal Dominant:

32
Skin

Animal Models for Woolly Hair, Autosomal Dominant or affiliated genes

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Publications for Woolly Hair, Autosomal Dominant

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Variations for Woolly Hair, Autosomal Dominant

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

63
id Symbol AA change Variation ID SNP ID
1KRT74p.Asn148LysVAR_063587

Clinvar genetic disease variations for Woolly Hair, Autosomal Dominant:

7
id Gene Name Type Significance SNP ID Assembly Location
1KRT74NM_175053.3(KRT74): c.444C> G (p.Asn148Lys)single nucleotide variantPathogenicrs267607205GRCh37Chr 12, 52967118: 52967118
2KRT74KRT74, IVS8AS, G-A, -1single nucleotide variantPathogenic

Expression for genes affiliated with Woolly Hair, Autosomal Dominant

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Expression patterns in normal tissues for genes affiliated with Woolly Hair, Autosomal Dominant

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

Pathways for genes affiliated with Woolly Hair, Autosomal Dominant

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Compounds for genes affiliated with Woolly Hair, Autosomal Dominant

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Compounds related to Woolly Hair, Autosomal Dominant according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1LPA(18:0e/0:0)259.4LPAR6, LIPH
2LPA(P-16:0e/0:0)259.3LPAR6, LIPH
3LPA(16:0/0:0)259.3LIPH, LPAR6
4LPA(18:0/0:0)259.3LPAR6, LIPH
5LPA(18:1(9Z)/0:0)259.2LPAR6, LIPH
6LPA(18:2(9Z,12Z)/0:0)259.2LPAR6, LIPH
7LPA(0:0/18:2(9Z,12Z))259.1LIPH, LPAR6
8LPA(0:0/16:0)259.1LIPH, LPAR6
9LPA(0:0/18:1(9Z))259.0LIPH, LPAR6
10LPA(0:0/18:0)258.8LIPH, LPAR6

GO Terms for genes affiliated with Woolly Hair, Autosomal Dominant

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Cellular components related to Woolly Hair, Autosomal Dominant according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1keratin filamentGO:0450959.3KRT74, KRT71

Molecular functions related to Woolly Hair, Autosomal Dominant according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1structural molecule activityGO:0051989.3KRT74, KRT71

Products for genes affiliated with Woolly Hair, Autosomal Dominant

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  • Antibodies
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Sources for Woolly Hair, Autosomal Dominant

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet