MCID: LCL012
MIFTS: 12

Localized Autosomal Recessive Hypotrichosis malady

Summaries for Localized Autosomal Recessive Hypotrichosis

Sources:
33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
MalaCards: Localized Autosomal Recessive Hypotrichosis, also known as hypotrichosis, localized, autosomal recessive, 2, is related to monilethrix and autosomal recessive hypotrichosis. An important gene associated with Localized Autosomal Recessive Hypotrichosis is DSG4 (desmoglein 4).

Aliases & Classifications for Localized Autosomal Recessive Hypotrichosis

Sources:
20GeneTests, 61UMLS
See all sources

Aliases & Descriptions:

localized autosomal recessive hypotrichosis 20
hypotrichosis, localized, autosomal recessive, 2 61
hypotrichosis, localized, autosomal recessive 1 61


Related Diseases for Localized Autosomal Recessive Hypotrichosis

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the autosomal recessive hypotrichosis family:

localized autosomal recessive hypotrichosis hypotrichosis, localized, autosomal recessive 2

Diseases related to Localized Autosomal Recessive Hypotrichosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1monilethrix30.5KRT83, DSG4
2autosomal recessive hypotrichosis10.7
3hypotrichosis, localized, autosomal recessive 210.4
4total hypotrichosis, mari type10.3
5alopecia10.2
6hypotrichosis 810.2
7hypotrichosis10.0DSG4

Graphical network of diseases related to Localized Autosomal Recessive Hypotrichosis:



Diseases related to localized autosomal recessive hypotrichosis

Clinical Features for Localized Autosomal Recessive Hypotrichosis

Drugs & Therapeutics for Localized Autosomal Recessive Hypotrichosis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Localized Autosomal Recessive Hypotrichosis

Drug clinical trials:

Search ClinicalTrials for Localized Autosomal Recessive Hypotrichosis

Search NIH Clinical Center for Localized Autosomal Recessive Hypotrichosis

Search CenterWatch for Localized Autosomal Recessive Hypotrichosis

Genetic Tests for Localized Autosomal Recessive Hypotrichosis

Sources:
20GeneTests
See all sources

Genetic tests related to Localized Autosomal Recessive Hypotrichosis:

id Genetic test Affiliating Genes
1 Localized Autosomal Recessive Hypotrichosis20 DSG4

Anatomical Context for Localized Autosomal Recessive Hypotrichosis

Animal Models for Localized Autosomal Recessive Hypotrichosis or affiliated genes

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Localized Autosomal Recessive Hypotrichosis

Sources:
51PubMed
See all sources

Articles related to Localized Autosomal Recessive Hypotrichosis:

idTitleAuthorsYear
1
Hair shaft abnormalities in localized autosomal recessive hypotrichosis 2 and a review of other non-syndromic human alopecias. (21537821)
2011
2
Localized autosomal recessive hypotrichosis due to a frameshift mutation in the desmoglein 4 gene exhibits extensive phenotypic variability within a Pakistani family. (17392831)
2007
3
Mutations in the desmoglein 4 gene underlie localized autosomal recessive hypotrichosis with monilethrix hairs and congenital scalp erosions. (16543896)
2006
4
An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis. (16575393)
2006
5
A missense mutation in the cadherin interaction site of the desmoglein 4 gene underlies localized autosomal recessive hypotrichosis. (16297213)
2005
6
Desmoglein 4 mutations underlie localized autosomal recessive hypotrichosis in humans, mice, and rats. (16382669)
2005
7
A recurrent intragenic deletion in the desmoglein 4 gene underlies localized autosomal recessive hypotrichosis. (15304105)
2004

Genetic Variations for Localized Autosomal Recessive Hypotrichosis

Expression for genes affiliated with Localized Autosomal Recessive Hypotrichosis

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Localized Autosomal Recessive Hypotrichosis

Search GEO for disease gene expression data for Localized Autosomal Recessive Hypotrichosis.

Pathways for genes affiliated with Localized Autosomal Recessive Hypotrichosis

Compounds for genes affiliated with Localized Autosomal Recessive Hypotrichosis

GO Terms for genes affiliated with Localized Autosomal Recessive Hypotrichosis

Products for genes affiliated with Localized Autosomal Recessive Hypotrichosis

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Localized Autosomal Recessive Hypotrichosis

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