MCID: WLL018
MIFTS: 31

Woolly Hair, Autosomal Dominant malady

Skin diseases, Genetic diseases categories

Summaries for Woolly Hair, Autosomal Dominant

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46OMIM, 32MalaCards
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MalaCards: Woolly Hair, Autosomal Dominant, also known as wooly hair, is related to hypotrichosis and cardiomyopathy dilated with woolly hair and keratoderma, and has symptoms including autosomal recessive inheritance, decreased body hair/axillar/pubic hairlessness and absent/decreased/thin eyebrows. An important gene associated with Woolly Hair, Autosomal Dominant is KRT74 (keratin 74). Affiliated tissues include skin.

Description from OMIM:46 194300,278150,604379

Aliases & Classifications for Woolly Hair, Autosomal Dominant

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Sources:
48Orphanet, 46OMIM, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

woolly hair, autosomal dominant 46
wooly hair 48 60
hereditary woolly hair syndrome 48
hereditary wooly hair syndrome 48
familial woolly hair syndrome 48
familial wooly hair syndrome 48
woolly hair 48


External Ids:

MESH via Orphanet35 C536745
ICD10 via Orphanet26 Q84.1
SNOMED-CT via Orphanet57 254231002, 52564001
UMLS via Orphanet61 C0343073, C0345427

Related Diseases for Woolly Hair, Autosomal Dominant

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17GeneCards, 18GeneDecks
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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

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46OMIM, 48Orphanet
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Clinical features from OMIM:

194300,278150,604379

Clinical synopsis from OMIM:

194300

Symptoms:

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

Drugs & Therapeutics for Woolly Hair, Autosomal Dominant

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Woolly Hair, Autosomal Dominant

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Anatomical Context for Woolly Hair, Autosomal Dominant

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Sources:
32MalaCards
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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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Genetic Variations for Woolly Hair, Autosomal Dominant

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Woolly Hair, Autosomal Dominant:

62
id Symbol AA change Variation ID SNP ID
1KRT74p.Asn148LysVAR_063587

Expression for genes affiliated with Woolly Hair, Autosomal Dominant

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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

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Compounds for genes affiliated with Woolly Hair, Autosomal Dominant

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GO Terms for genes affiliated with Woolly Hair, Autosomal Dominant

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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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Woolly Hair, Autosomal Dominant

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet