Preferred Label : Mesangial sclerosis, diffuse renal, with ocular abnormalities;
Obsolete resource : true;
Moved to : 614199;
Type : Other, mainly phenotypes with suspected mendelian basis;
Description : Barakat et al. (1982) described a brother and sister who died at ages 3 and 5, respectively,
of nephrosis and progressive renal failure and who also showed ocular abnormality.
The boy had nystagmus and absent foveal reflexes; no eye examinations for further
deterioration were made. He also had psychomotor retardation. The girl had nystagmus,
bilateral optic atrophy, narrowing of the retinal arterioles, and abnormalities in
the macular areas. Diffuse mesangial sclerosis is a rare form of kidney disease. According
to the authors, this association has not previously been noted. Also see 609049. *FIELD*
RF 1. Barakat, A. Y.; Khoury, L. A.; Allam, C. K.; Najjar, S. S.: Diffuse mesangial
sclerosis and ocular abnormalities in two siblings. Int. J. Pediat. Nephrol. 3: 33-35,
1982. *FIELD* CS GU: Nephrosis; Renal failure;
Inheritance : Autosomal recessive;
Prefixed ID : 249660;
Origin ID : 249660;
UMLS CUI : C1855282;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
