MCID: LCL012
MIFTS: 18

Localized Autosomal Recessive Hypotrichosis malady

Genetic diseases, Skin diseases, Rare diseases categories

Summaries for Localized Autosomal Recessive Hypotrichosis

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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

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Localized Autosomal Recessive Hypotrichosis, Aliases & Descriptions:

Name: Localized Autosomal Recessive Hypotrichosis 21
 
Hypotrichosis, Localized, Autosomal Recessive, 2 61


Classifications:

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


Related Diseases for Localized Autosomal Recessive Hypotrichosis

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Diseases in the Hypotrichosis 11 family:

Hypotrichosis localized autosomal recessive hypotrichosis
Hypotrichosis 2 Autosomal Recessive Hypotrichosis
Hypotrichosis 5 Hypotrichosis 7
Hypotrichosis 10 Hypotrichosis 4
Hypotrichosis 9 Hypotrichosis 13
Hypotrichosis 3 Hypotrichosis 12
Hypotrichosis 8 Hypotrichosis 1
Hypotrichosis 6

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

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Drugs & Therapeutics for Localized Autosomal Recessive Hypotrichosis

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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

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Genetic tests related to Localized Autosomal Recessive Hypotrichosis:

id Genetic test Affiliating Genes
1 Localized Autosomal Recessive Hypotrichosis21 DSG4

Anatomical Context for Localized Autosomal Recessive Hypotrichosis

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Animal Models for Localized Autosomal Recessive Hypotrichosis or affiliated genes

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Publications for Localized Autosomal Recessive Hypotrichosis

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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

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Expression for genes affiliated with Localized Autosomal Recessive Hypotrichosis

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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

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Compounds for genes affiliated with Localized Autosomal Recessive Hypotrichosis

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GO Terms for genes affiliated with Localized Autosomal Recessive Hypotrichosis

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Products for genes affiliated with Localized Autosomal Recessive Hypotrichosis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Localized Autosomal Recessive Hypotrichosis

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet