MCID: WLL018
MIFTS: 36

Woolly Hair, Autosomal Dominant malady

Genetic diseases, Skin diseases, Rare diseases categories

Summaries for Woolly Hair, Autosomal Dominant

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48OMIM, 34MalaCards
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MalaCards: Woolly Hair, Autosomal Dominant, also known as wooly hair, is related to hypotrichosis and woolly hair nevus, 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). 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.

Description from OMIM:48 194300,278150,604379,615896

Aliases & Classifications for Woolly Hair, Autosomal Dominant

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Sources:
50Orphanet, 48OMIM, 63UMLS, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Skin diseases
Orphanet: 50 
Rare skin diseases


Characteristics (Orphanet epidemiological data):

50
wooly hair:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

woolly hair, autosomal dominant 48
wooly hair 50 63
hereditary woolly hair syndrome 50
hereditary wooly hair syndrome 50
familial woolly hair syndrome 50
familial wooly hair syndrome 50
woolly hair 50


External Ids:

MESH via Orphanet37 C536745
ICD10 via Orphanet27 Q84.1
SNOMED-CT via Orphanet60 254231002, 52564001
UMLS via Orphanet64 C0343073, C0345427

Related Diseases for Woolly Hair, Autosomal Dominant

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18GeneCards, 19GeneDecks
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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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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

194300

Clinical features from OMIM:

194300,278150,604379,615896

Symptoms:

50 (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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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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:
34MalaCards
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MalaCards organs/tissues related to Woolly Hair, Autosomal Dominant:

34
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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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Woolly Hair, Autosomal Dominant:

65
id Symbol AA change Variation ID SNP ID
1KRT74p.Asn148LysVAR_063587

Clinvar genetic disease variations for Woolly Hair, Autosomal Dominant:

1
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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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Woolly Hair, Autosomal Dominant

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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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25HMDB
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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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17Gene Ontology
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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
  • Proteins
  • Lysates
  • Antibodies

Sources for Woolly Hair, Autosomal Dominant

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet