MCID: WLL018
MIFTS: 30

Woolly Hair, Autosomal Dominant malady

Skin, Genetic categories

Summaries for Woolly Hair, Autosomal Dominant

Sources:
47OMIM, 33MalaCards
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MalaCards: Woolly Hair, Autosomal Dominant, also known as wooly hair, is related to woolly hair nevus and woolly hair, autosomal recessive, and has symptoms including abnormal hair texture/hair dysplasia, fine hair and woolly/frizzy hair. An important gene associated with Woolly Hair, Autosomal Dominant is KRT74 (keratin 74).

Description from OMIM:47 194300,278150,604379

Aliases & Classifications for Woolly Hair, Autosomal Dominant

Sources:
47OMIM, 49Orphanet, 61UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic
Anatomical: Skin


Characteristics (Orphanet epidemiological data):

49
wooly hair:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

woolly hair, autosomal dominant 47
wooly hair 49 61
hereditary woolly hair syndrome 49
hereditary wooly hair syndrome 49
familial woolly hair syndrome 49
familial wooly hair syndrome 49
woolly hair 49


External Ids:

MESH via Orphanet36 C536745
ICD10 via Orphanet26 Q84.1
SNOMED-CT via Orphanet58 254231002, 52564001
UMLS via Orphanet62 C0343073, C0345427

Related Diseases for Woolly Hair, Autosomal Dominant

Sources:
17GeneCards, 18GeneDecks
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Diseases in the Woolly Hair, Autosomal Dominant family:

woolly hair, autosomal recessive woolly hair, autosomal recessive 2 with or without hypotrichosis
woolly hair, autosomal recessive 1, with or without hypotrichosis

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

(show all 31)
idRelated DiseaseScoreTop Affiliating Genes
1woolly hair nevus10.8
2woolly hair, autosomal recessive10.7
3autosomal recessive hypotrichosis10.7
4cardiomyopathy dilated with woolly hair and keratoderma10.7
5woolly hair syndrome10.7
6keratoderma10.7
7skin fragility woolly hair syndrome10.6
8naxos disease10.5
9woolly hair hypotrichosis everted lower lip and outstanding ears10.5
10hypotrichosis 810.5
11n syndrome10.4
12epidermal nevus10.3
13nonepidermolytic palmoplantar keratoderma10.3
14alopecia10.3
15hypotrichosis simplex10.3
16woolly hair, autosomal recessive 2 with or without hypotrichosis10.3
17woolly hair, autosomal recessive 1, with or without hypotrichosis10.3
18arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair10.3
19keratosis pilaris atrophicans10.3
20keratosis follicularis10.1
21noonan syndrome10.1
22pachyonychia congenita10.1
23alopecia areata10.1
24palmoplantar keratoderma, epidermolytic10.1
25precocious puberty10.1
26ichthyosis, follicular10.1
27keratosis follicularis spinulosa decalvans10.1
28central precocious puberty10.1
29trichohepatoenteric syndrome 110.1
30verrucous nevus10.1
31hypotrichosis10.0KRT71, KRT74, LIPH, LPAR6

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



Diseases related to woolly hair, autosomal dominant

Clinical Features for Woolly Hair, Autosomal Dominant

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

194300,278150,604379

Clinical synopsis from OMIM:

194300

Symptoms:

49 (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

Drugs & Therapeutics for Woolly Hair, Autosomal Dominant

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Woolly Hair, Autosomal Dominant

Drug clinical trials:

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Search NIH Clinical Center for Woolly Hair, Autosomal Dominant

Search CenterWatch for Woolly Hair, Autosomal Dominant

Genetic Tests for Woolly Hair, Autosomal Dominant

Anatomical Context for Woolly Hair, Autosomal Dominant

Animal Models for Woolly Hair, Autosomal Dominant or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Woolly Hair, Autosomal Dominant

Sources:
51PubMed
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Articles related to Woolly Hair, Autosomal Dominant:

idTitleAuthorsYear
1
A missense mutation within the helix initiation motif of the keratin K71 gene underlies autosomal dominant woolly hair/hypotrichosis. (22592156)
2012
2
Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families. (21188418)
2011
3
Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture. (20346438)
2010
4
Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakin. (16628197)
2006

Genetic Variations for Woolly Hair, Autosomal Dominant

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Woolly Hair, Autosomal Dominant:

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

Expression for genes affiliated with Woolly Hair, Autosomal Dominant

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

Compounds for genes affiliated with Woolly Hair, Autosomal Dominant

GO Terms for genes affiliated with Woolly Hair, Autosomal Dominant

Sources:
16Gene Ontology
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Cellular components related to Woolly Hair, Autosomal Dominant according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1keratin filamentGO:0450959.1KRT71, KRT74

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

idNameGO IDScoreTop Affiliating Genes
1structural molecule activityGO:0051989.1KRT71, KRT74

Products for genes affiliated with Woolly Hair, Autosomal Dominant

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Woolly Hair, Autosomal Dominant

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet