Renpenning syndrome 1

Preferred Label : Renpenning syndrome 1;

Symbol : RENS1;

CISMeF acronym : MRXS3; MRXS8; MRX55; RENS1; SHS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, X-linked, renpenning type; MRXS3; MRX55; MRXS8; Mental retardation, X-linked, syndromic 8; Mental retardation, X-linked 55; Mental retardation, X-linked, with spastic diplegia; Mental retardation, X-linked, syndromic 3; SHS; Sutherland-haan X-linked mental retardation syndrome; Golabi-ito-hall syndrome;

Description : 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.;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the polyglutamine-binding protein-1 gene (PQBP1, 300463.0001);

Prefixed ID : #309500;

Détails

Origin ID

309500;

UMLS CUI

C0796135;

Automatic exact mappings (from CISMeF team)
- ATRX wt Allele [NCIt concept]
- Hughes Stovin syndrome (disorder) [SNOMED CT concept]
- Human and social sciences [HPMULTI category]
- Saint Helena, Ascension and Tristan da Cunha [NCIt concept]
- Secretin Human [NCIt concept]
- symbol withdrawn RENS1 [HGNC gene]
Currated CISMeF NLP mapping
- Renpenning Syndrome [NCIt concept]
- Renpenning syndrome [DO Concept]
- Renpenning syndrome [ICD-11 More detail]
- Renpenning syndrome [ORDO Disease]
- Renpenning syndrome (disorder) [SNOMED CT concept]
- Renpenning syndrome 1 [MeSH concept]
- renpenning syndrome 1 [MeSH Supplementary Concept]
DO Cross reference
- Renpenning syndrome [DO Concept]
Genes related to phenotype
- Polyglutamine-binding protein 1 [OMIM gene]
HPO term(s)
- Anal atresia [HPO term]
- Anxiety [HPO term]
- Atrial septal defect [HPO term]
- Blindness [HPO term]
- Brachycephaly [HPO term]
- Brittle hair [HPO term]
- Bulbous nose [HPO term]
- Camptodactyly [HPO term]
- Cataract [HPO term]
- Cerebral atrophy [HPO term]
- Cleft palate [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Coloboma [HPO term]
- Cupped ear [HPO term]
- Death in childhood [HPO term]
- Decreased testicular size [HPO term]
- Epicanthus [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hypermetropia [HPO term]
- Hyperreflexia [HPO term]
- Hypospadias [HPO term]
- Intellectual disability [HPO term]
- Joint contracture of the hand [HPO term]
- Long face [HPO term]
- Long, narrow facies [HPO term]
- Low hanging columella [HPO term]
- Macrodontia [HPO term]
- Macrotia [HPO term]
- Malar flattening [HPO term]
- Mandibular prognathia [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Microphthalmia [HPO term]
- Narrow face [HPO term]
- Narrow foot [HPO term]
- Narrow mouth [HPO term]
- Nasal speech [HPO term]
- Pectus excavatum [HPO term]
- Pes cavus [HPO term]
- Phimosis [HPO term]
- Poor suck [HPO term]
- Protruding ear [HPO term]
- Renal hypoplasia [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Short philtrum [HPO term]
- Short stature [HPO term]
- Situs inversus totalis [HPO term]
- Sparse hair [HPO term]
- Sparse lateral eyebrow [HPO term]
- Spasticity [HPO term]
- Strabismus [HPO term]
- Synostosis of the proximal phalanx of the thumb with the 1st metacarpal [HPO term]
- Telecanthus [HPO term]
- Tetralogy of Fallot [HPO term]
- Thin upper lip vermilion [HPO term]
- Triangular face [HPO term]
- Upslanted palpebral fissure [HPO term]
- Ventricular septal defect [HPO term]
- Wide nasal bridge [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Renpenning syndrome [ORDO Disease]
See also inter- (CISMeF)
- PQBP1 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Renpenning Syndrome [NCIt concept]
- Renpenning syndrome [ORDO Disease]
- Renpenning syndrome [DO Concept]
- Renpenning syndrome (disorder) [SNOMED CT concept]
- Renpenning syndrome 1 [MeSH concept]
- renpenning syndrome 1 [MeSH Supplementary Concept]

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