Details of Disease

General Information of Disease (ID: DIS9GLUF)

Disease Name Cholestasis-pigmentary retinopathy-cleft palate syndrome
Synonyms HARDIKAR syndrome; Hardikar syndrome
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.
Disease Hierarchy
DISYKSRF: Genetic disease
DIS9GLUF: Cholestasis-pigmentary retinopathy-cleft palate syndrome
Disease Identifiers
MONDO ID
MONDO_0012997
MESH ID
C535632
UMLS CUI
C0795969
OMIM ID
301068
MedGen ID
208652
Orphanet ID
1415
SNOMED CT ID
720636001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MED12 OTQZ4D2X Strong X-linked [1]
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References

1 De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females. Genet Med. 2021 Apr;23(4):637-644. doi: 10.1038/s41436-020-01031-7. Epub 2020 Nov 27.