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RENS1
MCID: RNP003
MIFTS: 48
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Renpenning Syndrome 1 (RENS1)
Categories:
Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Renpenning Syndrome 1:
Characteristics:Orphanet epidemiological data:59
renpenning syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;
hamel cerebro-palato-cardiac syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy; OMIM:57
Miscellaneous:
clinical variability features in typical patient include mental retardation, microcephaly, short stature, and lean body build skewed x-inactivation in carriers
Inheritance:
x-linked recessive HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Mental diseases
ICD10:
33
34
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Genetics Home Reference
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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.
MalaCards based summary : Renpenning Syndrome 1, also known as renpenning syndrome, is related to arthrogryposis, distal, type 5 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 are Spliceosome and Vemurafenib Pathway, Pharmacodynamics. The drugs Iodine and Ribavirin have been mentioned in the context of this disorder. Affiliated tissues include testes, eye and heart, and related phenotypes are malar flattening and pectus excavatum 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 : 53 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 : 57 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) UniProtKB/Swiss-Prot : 75 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. |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:309500Human phenotypes related to Renpenning Syndrome 1:59 32 (show top 50) (show all 83)
UMLS symptoms related to Renpenning Syndrome 1:muscle spasticity |
Drugs for Renpenning Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 16)
Interventional clinical trials:
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MalaCards organs/tissues related to Renpenning Syndrome 1:41
Testes,
Eye,
Heart,
Skeletal Muscle,
Brain,
Kidney,
T Cells
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Articles related to Renpenning Syndrome 1:
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Genes related to Renpenning Syndrome 1 (1 elite genes):(show all 14) - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Renpenning Syndrome 1:75
ClinVar genetic disease variations for Renpenning Syndrome 1:6 (show all 32)
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Search
GEO
for disease gene expression data for Renpenning Syndrome 1.
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Pathways related to Renpenning Syndrome 1 according to KEGG:37
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Biological processes related to Renpenning Syndrome 1 according to GeneCards Suite gene sharing:
Molecular functions related to Renpenning Syndrome 1 according to GeneCards Suite gene sharing:
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