Cystinosis, adult nonnephropathic

General Information (adopted from Orphanet):

Synonyms, Signs: Cystinosis, ocular nonnephropathic
Cystinosis, benign nonnephropathic
Number of Symptoms 6
OrphanetNr:
OMIM Id: 219750
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
10625078 [IBIS]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Cystinosis
 -Rare genetic disease

Comment:

Patients with ocular nonnephropathic cystinosis never suffer renal disease and do not exhibit a retinal pigment abnormality but do have crystals in their cornea and bone marrow. Ocular cystinosis patients (4 cases analyzed) are heterozygous for one severe mutation (e.g. 545delTCCTT in case 1 and the 57-kb deletion in cases 2 and 3) and one mild mutation (e.g. IVS10–3 C>G in case 1 and 928 G>A in cases 2–4) (PMID:10625078).

Symptom Information: Sort by abundance 

1
(HPO:0000531) Corneal crystals Very frequent 10625078 IBIS 9 / 7739
2
(HPO:0000613) Photophobia Very frequent 10625078 IBIS 158 / 7739
3
(HPO:0003358) Elevated intracellular cystine 5477639 IBIS 4 / 7739
4
(OMIM) Mild photophobia 10625078 IBIS 3 / 7739
5
(OMIM) No renal disease 10625078 IBIS 1 / 7739
6
(OMIM) Conjunctival crystals 5477639 IBIS 1 / 7739

Associated genes:

CTNS;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Ocular nonnephropathic cystinosis, a variant of the classic nephropathic type of cystinosis (219800), is an autosomal recessive lysosomal storage disorder characterized by photophobia due to corneal cystine crystals but absence of renal disease (summary by Anikster et al., ...
Clinical Description OMIM Lietman et al. (1966) observed a benign form of cystinosis in 3 affected sibs of cousin parents. The ages of the patients were 53, 50, and 42 years. Crystals of cystine were demonstrated in the cornea, buffy coat ...
Molecular genetics OMIM Anikster et al. (2000) identified 2 mild mutations in the CTNS gene, G197R (606272.0011) and IVS10-3C-G (606272.0009), in compound heterozygosity with severe mutations in this gene in patients with ocular nonnephropathic cystinosis. The mild mutations appear to allow ...