MCID: LCL012
MIFTS: 14

Localized Autosomal Recessive Hypotrichosis malady

Genetic diseases (common) category
Download this MalaCard

Summaries for Localized Autosomal Recessive Hypotrichosis

About this section


Fully expand this MalaCard
MalaCards based summary: 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

About this section

Localized Autosomal Recessive Hypotrichosis, Aliases & Descriptions:

Name: Localized Autosomal Recessive Hypotrichosis 20
 
Hypotrichosis, Localized, Autosomal Recessive, 2 62


Classifications:

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


Related Diseases for Localized Autosomal Recessive Hypotrichosis

About this section

Diseases in the Autosomal Recessive Hypotrichosis family:

localized autosomal recessive hypotrichosis

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

idRelated DiseaseScoreTop Affiliating Genes
1monilethrix30.4KRT83, DSG4
2autosomal recessive hypotrichosis10.7
3hypotrichosis10.7
4alopecia10.2
5hypotrichosis 210.2
6hypotrichosis 810.2
7hypotrichosis 610.2

Graphical network of diseases related to Localized Autosomal Recessive Hypotrichosis:



Diseases related to localized autosomal recessive hypotrichosis

Symptoms for Localized Autosomal Recessive Hypotrichosis

About this section

Drugs & Therapeutics for Localized Autosomal Recessive Hypotrichosis

About this section

Drug clinical trials:

Search ClinicalTrials for Localized Autosomal Recessive Hypotrichosis

Search NIH Clinical Center for Localized Autosomal Recessive Hypotrichosis

Genetic Tests for Localized Autosomal Recessive Hypotrichosis

About this section

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

About this section

Animal Models for Localized Autosomal Recessive Hypotrichosis or affiliated genes

About this section

Publications for Localized Autosomal Recessive Hypotrichosis

About this section

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

Variations for Localized Autosomal Recessive Hypotrichosis

About this section

Expression for genes affiliated with Localized Autosomal Recessive Hypotrichosis

About this section
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

About this section

Compounds for genes affiliated with Localized Autosomal Recessive Hypotrichosis

About this section

GO Terms for genes affiliated with Localized Autosomal Recessive Hypotrichosis

About this section

Products for genes affiliated with Localized Autosomal Recessive Hypotrichosis

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Localized Autosomal Recessive Hypotrichosis

About this section
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet