Cole-Carpenter syndrome 1
Findings
No curated finding names Cole-Carpenter syndrome 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the P4HB gene.
Definition from the Mondo Disease Ontology (MONDO:0007204), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
16 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Communicating hydrocephalusHPOHP:0001334
- 2 of 2 reported patients
- Coronal craniosynostosisHPOHP:0004440
- 2 of 2 reported patients
- Midface retrusionHPOHP:0011800
- 2 of 2 reported patients
- OsteopeniaHPOHP:0000938
- 2 of 2 reported patients
- Popcorn calcificationHPOHP:6000871
- 2 of 2 reported patients
- ProptosisHPOHP:0000520
- 2 of 2 reported patients
- Recurrent fracturesHPOHP:0002757
Show the remaining 4
- Frontal bossingHPOHP:0002007
- 1 of 2 reported patients
- MicrognathiaHPOHP:0000347
- 1 of 2 reported patients
- Wormian bonesHPOHP:0002645
- 1 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 0 of 2 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- P4HBHGNC:8548
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · G2P · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Moderate · Genomics England PanelApp · Autosomal dominant · 2021
Where it sits
Other names
3 names
Resolves to: Cole-Carpenter syndrome 1
- Also called
- Cole-Carpenter syndrome caused by mutation in P4HBCole-Carpenter syndrome type 1P4HB Cole-Carpenter syndrome