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cataract-nephropathy-encephalopathy syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cataract-nephropathy-encephalopathy syndrome

MONDO:0009045

Also known as:crome syndromecongenital cataracts, renal tubular necrosis and encephalopathy in two sisters

Overview

Cataract - nephropathy - encephalopathy syndrome describes a lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). The combination of cataract - nephropathy - encephalopathy has been described in 2 female infant children of first cousin parents. The infants did not survive beyond 4 and 8 months respectively. There have been no further descriptions in the literature since 1963.

GeneticsAutosomal recessive

OnsetINFANTILE, CONGENITAL

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Microcephaly, Seizure, Renal tubular epithelial necrosis, and Cerebellar dysplasia and others; and common findings: Nystagmus. 9 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	3	Seizure, Severe global developmental delay, Intellectual disability

Diagnosis

Biomarker and diagnostic research for cataract-nephropathy-encephalopathy syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 7 always present features, 1 common feature.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for cataract-nephropathy-encephalopathy syndrome.

222 publications have been identified in PubMed for cataract-nephropathy-encephalopathy syndrome. Research spans Review / Meta-Analysis (55%), Epidemiology / Natural History (15%), and Basic Science / Preclinical (13%).

Research Type	Count	% of Total
Research summaries	121	55%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 7:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:218900

Orphanet

European rare disease database

Orphanet:1380

GARD

Genetic and Rare Diseases Info Center

GARD:1614

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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cataract-nephropathy-encephalopathy syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

cataract-nephropathy-encephalopathy syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications