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.
Matched Phenotype
Gene
Mutation
MeSH
Rank
(Similarity) |
PMID
(PMCID) |
Phenotype(s) retrieved from Orphanet
Total: 6
| HPO ID |
Term |
Frequency |
| HP:0000124 |
Renal tubular dysfunction |
Very frequent (99-80%) |
| HP:0000518 |
Cataract |
Very frequent (99-80%) |
| HP:0001249 |
Intellectual disability |
Very frequent (99-80%) |
| HP:0001250 |
Seizures |
Very frequent (99-80%) |
| HP:0004322 |
Short stature |
Very frequent (99-80%) |
| HP:0000639 |
Nystagmus |
Frequent (79-30%) |
Phenotype(s) retrieved from case reports
Total: 0
| HPO ID |
Term |
# of case reports |
Causative gene(s) retrieved from Orphanet
Total: 0
| Gene Symbol |
Gene Name |
Entrez Gene ID |
