MRXS3
MCID: RNP003
MIFTS: 19

Renpenning Syndrome 1 (MRXS3) malady

Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases, Fetal diseases categories

Summaries for Renpenning Syndrome 1

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44NIH Rare Diseases, 34MalaCards
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NIH Rare Diseases:44 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, also known as sutherland-haan x-linked mental retardation syndrome, is related to renpenning syndrome. 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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44NIH Rare Diseases, 21GeneTests, 23GTR, 63UMLS
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Classifications:



Aliases & Descriptions:

renpenning syndrome 1 44 21 23 63
sutherland-haan x-linked mental retardation syndrome 44
x-linked mental retardation with spastic diplegia 44
mental retardation, x-linked renpenning type 44
mental retardation, x-linked, syndromic 8 44
x-linked mental retardation syndromic 3 44
sutherland-haan syndrome 44
mrxs3 44
rens1 44
mrxs8 44


Related Diseases for Renpenning Syndrome 1

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18GeneCards, 19GeneDecks
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Diseases in the Renpenning Syndrome family:

renpenning syndrome 1

Diseases related to Renpenning Syndrome 1 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1renpenning syndrome10.4

Symptoms for Renpenning Syndrome 1

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Drugs & Therapeutics for Renpenning Syndrome 1

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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

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Genetic Tests for Renpenning Syndrome 1

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21GeneTests, 23GTR
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Genetic tests related to Renpenning Syndrome 1:

id Genetic test Affiliating Genes
1 Renpenning Syndrome 121 23 PQBP1

Anatomical Context for Renpenning Syndrome 1

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34MalaCards
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MalaCards organs/tissues related to Renpenning Syndrome 1:

34
Testes

Animal Models for Renpenning Syndrome 1 or affiliated genes

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Publications for Renpenning Syndrome 1

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Variations for Renpenning Syndrome 1

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Expression for genes affiliated with Renpenning Syndrome 1

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Sources:
2BioGPS, 16Gene 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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet