cholestasis-pigmentary retinopathy-cleft palate syndrome
Findings
No curated finding names cholestasis-pigmentary retinopathy-cleft palate syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Cholestasis- pigmentary retinopathy- cleft palate is a syndrome of multiple congenital malformations, characterized by an association of cleft lip and palate, patchy pigmentary retinopathy (cat's paw), obstructive liver disease (cholestasis, portal hypertension etc.) and obstructive renal disease (ectopic ureteric insertion, obstruction, vesicouretral reflux and hydronephrosis). Gastrointestinal tract involvement (malrotation, gastresophageal reflux etc.) and cardiac involvement (coarctation of aorta, pulmonary artery stenosis etc) have also been reported. An overlap with Kabuki syndrome is debated.
Definition from the Mondo Disease Ontology (MONDO:0012997), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked dominant inheritance
HPO, annotations 2026-09-02
Features
80 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.
- Decreased liver functionHPOHP:0001410
- 4 of 4 reported patients
- HydronephrosisHPOHP:0000126
- 4 of 4 reported patients
- Occasional (5% to 29% of cases)
- Intestinal malrotationHPOHP:0002566
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- Intrahepatic bile duct dilatationHPOHP:0033149
- 4 of 4 reported patients
- JaundiceHPOHP:0000952
- 4 of 4 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.
- MED12HGNC:11957
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2022
Where it sits
- A kind of
Other names
1 name
Resolves to: cholestasis-pigmentary retinopathy-cleft palate syndrome
- Also called
- Hardikar syndrome