MRXS3
MCID: RNP003
MIFTS: 19

Renpenning Syndrome 1 (MRXS3) malady

Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases, Fetal diseases categories
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Summaries for Renpenning Syndrome 1

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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, 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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43NIH Rare Diseases, 20GeneTests, 22GTR, 62UMLS
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Classifications:



Aliases & Descriptions:

renpenning syndrome 1 43 20 22 62
sutherland-haan x-linked mental retardation syndrome 43
x-linked mental retardation with spastic diplegia 43
mental retardation, x-linked renpenning type 43
mental retardation, x-linked, syndromic 8 43
x-linked mental retardation syndromic 3 43
sutherland-haan syndrome 43
mrxs3 43
rens1 43
mrxs8 43


Related Diseases for Renpenning Syndrome 1

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17GeneCards, 18GeneDecks
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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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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Renpenning Syndrome 1

Search NIH Clinical Center 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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33MalaCards
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MalaCards organs/tissues related to Renpenning Syndrome 1:

33
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, 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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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet