Preferred Label : Cholestasis with gallstone, ataxia, and visual disturbance;
Type : Other, mainly phenotypes with suspected mendelian basis;
Description : Schubert et al. (1976) reported a case of congenital cholestasis, radiopaque gallstone
and cerebellar ataxia. Tazawa and Konno (1982) reported the cases of infant son and
daughter of first-cousin parents. The boy was first noted to be jaundiced at age 4
months and died at age 4 years. In the girl, jaundice was first noted at age 5 days.
Liver biopsy at age 2 months showed giant cell hepatitis with marked cholestasis.
A gallstone was removed surgically at age 3 years, the same age at which ataxia was
first noted. Bilateral ptosis developed at age 10. Retinal lesions and optic atrophy
started in infancy. Camptodactyly became prominent with age. Jaundice was intermittent
but pruritus persisted during anicteric stages. The last observations were made at
age 12. It is not clear that this is distinct from Byler disease (211600) or another
form of intrahepatic cholestasis described elsewhere. The retinal and neurologic features
may have been secondary to nutritional abnormalities. *FIELD* RF 1. Schubert, W. K.;
Partin, J. S.; Partin, J. C.: Congenital cholestasis: clinical and ultrastructural
study. In: Berenberg, S. R.: Liver Diseases in Infancy and Childhood. Hauge: Martinus
Nijhoff (pub.) 1976. Pp. 148-162. 2. Tazawa, Y.; Konno, T.: Familial cholestasis
with gallstone, ataxia and visual disturbance. Tohoku J. Exp. Med. 137: 137-144, 1982.
*FIELD* CS GI: Congenital cholestasis; Gallstones Neuro: Cerebellar ataxia;
Inheritance : Autosomal recessive;
Prefixed ID : 214980;
Origin ID : 214980;
UMLS CUI : C1859161;
Currated CISMeF NLP mapping
- HPO term(s)
- Semantic type(s)
- UMLS correspondences (same concept)
