Details of Disease

General Information of Disease (ID: DISXY3VI)

Disease Name	Cystinosis
Synonyms	cystine disease; Cystinoses; cystine diathesis; Protein defect of cystin transport; cystine storage disease; cystinosis
Disease Class	5C60: Amino acid absorption/transport disorder
Definition	Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular.
Disease Hierarchy	DISHPBPC: Inborn disorder of lysosomal amino acid transport DISXY3VI: Cystinosis
ICD Code	ICD-11 ICD-11: 5C60.1
Disease Identifiers	MONDO ID MONDO_0016239 MESH ID D003554 UMLS CUI C4316899 MedGen ID 1384792 Orphanet ID 213 SNOMED CT ID 190681003

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 1 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
AVR-RD-04	DMANO7A	Clinical trial	Gene therapy	[1]
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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
RAB7A	TTF6WAQ	Limited	Altered Expression	[2]
CTNS	TT1W2ZS	Definitive	Autosomal recessive	[3]
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This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
RAB11A	OTC4FW0J	Limited	Biomarker	[2]
RAB7B	OT60A0E9	Limited	Altered Expression	[2]
RILP	OTT6K1GE	Limited	Altered Expression	[2]
SCN7A	OTK05PXY	Strong	Biomarker	[4]
SLC66A1	OTUM63MK	Strong	Biomarker	[5]
CTNS	OT1BS5V9	Definitive	Autosomal recessive	[3]
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⏷ Show the Full List of 6 DOT(s)

References

1	ClinicalTrials.gov (NCT05146830) A Long-Term Follow-Up Study of Participants With Cystinosis Who Previously Received CTNS-RD-04. U.S.National Institutes of Health.
2	Cystinosin, the small GTPase Rab11, and the Rab7 effector RILP regulate intracellular trafficking of the chaperone-mediated autophagy receptor LAMP2A.J Biol Chem. 2017 Jun 23;292(25):10328-10346. doi: 10.1074/jbc.M116.764076. Epub 2017 May 2.
3	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
4	Lysosomal enzymuria is a feature of hereditary Fanconi syndrome and is related to elevated CI-mannose-6-P-receptor excretion.Nephrol Dial Transplant. 2008 Sep;23(9):2795-803. doi: 10.1093/ndt/gfm898. Epub 2008 Jan 3.
5	Heptahelical protein PQLC2 is a lysosomal cationic amino acid exporter underlying the action of cysteamine in cystinosis therapy.Proc Natl Acad Sci U S A. 2012 Dec 11;109(50):E3434-43. doi: 10.1073/pnas.1211198109. Epub 2012 Nov 20.