Renpenning Syndrome 1 (RENS1)

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Disease Ontology 12 DOID:0060179 OMIM 56 309500 OMIM Phenotypic Series 56 PS309510 KEGG 36 H01913 MeSH 43 D038901 ICD10 32 Q87.5

ICD10 via Orphanet 33 Q87.5 Orphanet 58 ORPHA3242 ORPHA93946 ORPHA93950 MedGen 41 C0796135 SNOMED-CT via HPO 68 103276001 109504005 111266001 128306009 128602000 128613002 13649004 14582003 14821001 15188001 193570009 204108000 204712000 204731006 204888000 205091006 22066006 221360009 224958001 22810007 228156007 229645001 237836003 237837007 238108007 24614000 246545002 246799009 247053007 247578003 249311009 249321001 253366007 253549006 253854008 271611007 27272007 27317008 275478007 275480001 276411001 278040002 278849000 285384003 289190003 29271008 299130003 299464006 30288003 313307000 32659003 32958008 343087000 38101003 391987005 397790002 405752007 418143002 422065006 43876007 48694002 52522001 56317004 60700002 61142002 62250003 63567004 64217002 65956007 69056000 70142008 71485000 73211009 74035001 79120002 84445001 84757009 86299006 86414002 86854008 87979003 91138005 91175000 92828000 93390002 95828007 more UMLS 71 C0796135

Genetics Home Reference : ²⁵ Renpenning syndrome is a disorder that almost exclusively affects males, causing developmental delay, moderate to severe intellectual disability, and distinctive physical features. Individuals with Renpenning syndrome typically have short stature and a small head size (microcephaly). Facial features characteristic of this disorder include a long, narrow face; outside corners of the eyes that point upward (upslanting palpebral fissures); a long, bulbous nose with a low-hanging separation between the nostrils (overhanging columella); a shortened space between the nose and mouth (philtrum); and cup-shaped ears. Males with Renpenning syndrome generally have small testes. Seizures and wasting away (atrophy) of muscles used for movement (skeletal muscles) may also occur in this disorder. About 20 percent of individuals with Renpenning syndrome also have other features, which may include a gap or split in structures that make up the eye (coloboma), an opening in the roof of the mouth (cleft palate), heart abnormalities, or malformations of the anus. Certain combinations of the features that often occur in Renpenning syndrome are sometimes called by other names, such as Golabi-Ito-Hall syndrome or Sutherland-Haan syndrome. However, all these syndromes, which have the same genetic cause, are now generally grouped under the term Renpenning syndrome.

MalaCards based summary : Renpenning Syndrome 1, also known as renpenning syndrome, is related to arthrogryposis, distal, type 2b1 and neuroblastoma, and has symptoms including muscle spasticity An important gene associated with Renpenning Syndrome 1 is PQBP1 (Polyglutamine Binding Protein 1), and among its related pathways/superpathways is Spliceosome. The drugs Astragalus and Neuroserpin have been mentioned in the context of this disorder. Affiliated tissues include testes, heart and eye, and related phenotypes are malar flattening and intellectual disability

Disease Ontology : ¹² An intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit which follows X-linked inheritance and presents most often in males.

NIH Rare Diseases : ⁵² Renpenning syndrome is a genetic condition which occurs mostly in males. Signs and symptoms include the following: developmental delay , a small head (microcephaly ), short stature , and distinctive facial features. Approximately two-thirds of individuals with Renpenning syndrome have moderate to severe intellectual disability . Additional features may include heart defects, muscular atrophy, cleft palate , and eye abnormalities. Renpenning syndrome is caused by mutations in the PQBP1 gene and is inherited in an X-linked recessive manner. Management involves early intervention by trained therapists along with treatment of any associated features.

OMIM : ⁵⁶ Renpenning syndrome is an X-linked mental retardation syndrome with clinically recognizable features. Affected individuals have microcephaly, short stature, small testes, and dysmorphic facies, including tall narrow face, upslanting palpebral fissures, abnormal nasal configuration, cupped ears, and short philtrum. The nose may appear long or bulbous, with overhanging columella. Less consistent manifestations include ocular colobomas, cardiac malformations, cleft palate, and anal anomalies. Stevenson et al. (2005) proposed that the various X-linked mental retardation syndromes due to PQBP1 mutations be combined under the name of Renpenning syndrome. (309500)

KEGG : ³⁶ Renpenning syndrome is a group of X-linked mental retardation syndromes, caused by mutations in human polyglutamine-binding protein 1 (PQBP1) gene. It is characterized by intellectual deficiency, microcephaly, short stature, and microrchidia. PQBP1 plays important roles in neurodevelopment and neuronal functions. It is thought to interact with RNA polymerase, transcription factors, and spliceosome proteins, and thus to act as a transcription and splicing regulator.

UniProtKB/Swiss-Prot : ⁷³ Renpenning syndrome 1: A X-linked mental retardation syndrome characterized by mental retardation, microcephaly, short stature, and small testes. The craniofacies tends to be narrow and tall with upslanting palpebral fissures, abnormal nasal configuration, cupped ears, and short philtrum. The nose may appear long or bulbous, with overhanging columella. Less consistent manifestations include ocular colobomas, cardiac malformations, cleft palate, and anal anomalies.

Clinical features from OMIM:

309500

Search NIH Clinical Center for Renpenning Syndrome 1

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