Disease: Renpenning Syndrome 1

Name Renpenning Syndrome 1

Synonyms GOLABI-ITO-HALL SYNDROME , MENTAL RETARDATION, X-LINKED 55; MRX55 , MENTAL RETARDATION, X-LINKED, RENPENNING TYPE , MENTAL RETARDATION, X-LINKED, SYNDROMIC 3; MRXS3 , MENTAL RETARDATION, X-LINKED, SYNDROMIC 8; MRXS8 , MENTAL RETARDATION, X-LINKED, WITH SPASTIC DIPLEGIA , SUTHERLAND-HAAN X-LINKED MENTAL RETARDATION SYNDROME; SHS

Classification abdominal surgical, developmental, genetic, neurological

Phenotypes Anal atresia; Anxiety; Atrial septal defect; Blindness; Brachycephaly; Brittle hair; Bulbous nose; Camptodactyly; Cataract; Cerebral atrophy; Cleft palate; Clinodactyly of the 5th finger; Coloboma; Cupped ear; Death in childhood; Decreased testicular size; Epicanthus; Global developmental delay; Hearing impairment; High palate; Hypermetropia; Hyperreflexia; Hypospadias; Intellectual disability; Joint contracture of the hand; Long face; Low hanging columella; Macrodontia; Macrotia; Malar flattening; Mandibular prognathia; Microcephaly; Micrognathia; Microphthalmia; Narrow face; Narrow foot; Narrow mouth; Nasal speech; Pectus excavatum; Pes cavus; Phimosis; Poor suck; Protruding ear; Renal hypoplasia; Scoliosis; Seizure; Short philtrum; Short stature; Situs inversus totalis; Sparse hair; Sparse lateral eyebrow; Spasticity; Strabismus; Synostosis of the proximal phalanx of the thumb with the 1st metacarpal; Telecanthus; Tetralogy of Fallot; Thin upper lip vermilion; Triangular face; Upslanted palpebral fissure; Ventricular septal defect; Wide nasal bridge; X-linked recessive inheritance

Associated Genes PQBP1 (Withdrawn symbols: MRX2, MRX55, MRXS3, MRXS8, RENS1, SHS )

Mouse Orthologs Pqbp1 (Withdrawn symbols: Sfc2 )

Source OMIM:309500 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)

Mouse Model: phenotype-based associations

Disease phenotypes are compared with mouse phenotypes, with each mouse model contributing one point to the diagram. Scores are computed according to phenotype specificity and cross-species similarity. X-axis shows the score of the single phenotype that contributes most. Y-axis shows an average among all phenotype matches. The curved line designates a visualization threshold; models below threshold are omitted, except when their genotype matches a disease-associated gene.

Mouse Models

No mouse models associated with OMIM:309500 by orthology to a human gene.

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