Details of Disease

General Information of Disease (ID: DIS91A30)

Disease Name Ocular cystinosis
Synonyms cystinosis, ocular Nonnephropathic; cystinosis, ADULT NONNEPHROPATHIC; cystinosis, benign Nonnephropathic; ocular cystinosis; non-nephropathic cystinosis; adult-onset cystinosis
Definition
Ocular cystinosis is the benign, adult form of cystinosis, a metabolic disease characterized by an accumulation of cystine crystals in the cornea and conjunctiva responsible for tearing and photophobia and associated with no other additional manifestations.
Disease Hierarchy
DISB52BH: Eye disorder
DIS1BLHT: Inborn disorder of amino acid transport
DISXY3VI: Cystinosis
DIS91A30: Ocular cystinosis
Disease Identifiers
MONDO ID
MONDO_0009064
MESH ID
C535765
UMLS CUI
C2931013
OMIM ID
219750
MedGen ID
419313
Orphanet ID
411641

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CTNS TT1W2ZS Limited CausalMutation [1]
CTNS TT1W2ZS Strong Autosomal recessive [2]
------------------------------------------------------------------------------------
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CTNS OT1BS5V9 Strong Autosomal recessive [2]
------------------------------------------------------------------------------------

References

1 Intracranial Hypertension in Cystinosis Is a Challenge: Experience in a Children's Hospital.JIMD Rep. 2017;35:17-22. doi: 10.1007/8904_2016_18. Epub 2016 Nov 18.
2 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.