MRXS3
MCID: RNP003
MIFTS: 12

Renpenning Syndrome 1 (MRXS3) malady

Neuronal category

Summaries for Renpenning Syndrome 1

Sources:
43NIH Rare Diseases, 33MalaCards
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NIH Rare Diseases:43 Renpenning syndrome is an inherited x-linked mental retardation condition which most often presents in males. it is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit. renpenning syndrome is caused by mutations in the polyglutamine tract binding protein 1 gene (pqbp1). treatment is symptomatic and supportive. in 2005, it was proposed that the various x-linked mental retardation syndromes with pqbp1 mutations be combined under the name of renpenning syndrome. last updated: 8/20/2009

MalaCards: Renpenning Syndrome 1, is also known as mental retardation, x-linked renpenning type An important gene associated with Renpenning Syndrome 1 is PQBP1 (polyglutamine binding protein 1).

Aliases & Classifications for Renpenning Syndrome 1

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 61UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal


Aliases & Descriptions:

renpenning syndrome 1 43 20 22 61
mental retardation, x-linked renpenning type 43
mental retardation, x-linked, syndromic 8 43
mrxs3 43
mrxs8 43
rens1 43


Related Diseases for Renpenning Syndrome 1

Diseases in the renpenning syndrome family:

renpenning syndrome 1

Clinical Features for Renpenning Syndrome 1

Drugs & Therapeutics for Renpenning Syndrome 1

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Renpenning Syndrome 1

Drug clinical trials:

Search ClinicalTrials for Renpenning Syndrome 1

Search NIH Clinical Center for Renpenning Syndrome 1

Search CenterWatch for Renpenning Syndrome 1

Genetic Tests for Renpenning Syndrome 1

Sources:
20GeneTests, 22GTR
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Genetic tests related to Renpenning Syndrome 1:

id Genetic test Affiliating Genes
1 Renpenning Syndrome 120 22 PQBP1

Anatomical Context for Renpenning Syndrome 1

Animal Models for Renpenning Syndrome 1 or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Renpenning Syndrome 1

Genetic Variations for Renpenning Syndrome 1

Expression for genes affiliated with Renpenning Syndrome 1

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Renpenning Syndrome 1

Search GEO for disease gene expression data for Renpenning Syndrome 1.

Pathways for genes affiliated with Renpenning Syndrome 1

Compounds for genes affiliated with Renpenning Syndrome 1

GO Terms for genes affiliated with Renpenning Syndrome 1

Products for genes affiliated with Renpenning Syndrome 1

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Renpenning Syndrome 1

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