MRXS3
MCID: RNP003
MIFTS: 14

Renpenning Syndrome 1 (MRXS3) malady

Neuronal diseases category

Summaries for Renpenning Syndrome 1

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42NIH Rare Diseases, 32MalaCards
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NIH Rare Diseases:42 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). Affiliated tissues include testes.

Aliases & Classifications for Renpenning Syndrome 1

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 60UMLS
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Classifications:

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


Aliases & Descriptions:

renpenning syndrome 1 42 20 22 60
mental retardation, x-linked renpenning type 42
mental retardation, x-linked, syndromic 8 42
mrxs3 42
mrxs8 42
rens1 42


Related Diseases for Renpenning Syndrome 1

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Diseases in the Renpenning Syndrome family:

renpenning syndrome 1

Clinical Features for Renpenning Syndrome 1

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Drugs & Therapeutics for Renpenning Syndrome 1

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Renpenning Syndrome 1

Search CenterWatch for Renpenning Syndrome 1

Genetic Tests for Renpenning Syndrome 1

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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

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32MalaCards
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MalaCards organs/tissues related to Renpenning Syndrome 1:

32
Testes

Animal Models for Renpenning Syndrome 1 or affiliated genes

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Publications for Renpenning Syndrome 1

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Genetic Variations for Renpenning Syndrome 1

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Expression for genes affiliated with Renpenning Syndrome 1

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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

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Compounds for genes affiliated with Renpenning Syndrome 1

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GO Terms for genes affiliated with Renpenning Syndrome 1

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Products for genes affiliated with Renpenning Syndrome 1

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Renpenning Syndrome 1

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet