Disease: Cole-Carpenter Syndrome 1

Name Cole-Carpenter Syndrome 1

Synonyms BONE FRAGILITY WITH CRANIOSYNOSTOSIS, OCULAR PROPTOSIS, HYDROCEPHALUS, AND DISTINCTIVE FACIAL FEATURES

Classification bone, developmental, eye, genetic

Phenotypes Autosomal dominant inheritance; Communicating hydrocephalus; Coronal craniosynostosis; Frontal bossing; High pitched voice; Hydrocephalus; Microdontia; Micrognathia; Midface retrusion; Orbital craniosynostosis; Osteopenia; Recurrent fractures; Scoliosis; Shallow orbits; Short stature; Vertebral compression fractures

Associated Genes P4HB (Withdrawn symbols: DSI, ERBA2L, GIT, P4Hbeta, PDI, PDIA1, PO4DB, PO4HB, PROHB )

Mouse Orthologs P4hb (Withdrawn symbols: Thbp )

Source OMIM:112240 (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

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