Details of Disease

General Information of Disease (ID: DISCU7CO)

Disease Name	Cystinuria
Synonyms	cystinuria, type III; cystinuria, type A/B; cystinuria-lysinuria; CSNU; cystinuria, type I; cystinuria, type II; cystinuria, type B; cystinuria, type non-I, formerly; cystinuria, type I, formerly; cystinuria, type non-I; cystinuria, type III, formerly; cystinuria, type II, formerly; cystinuria, type a; cystinuria-lysinuria syndrome; cystinuria (disease); cystinuria
Disease Class	5C60: Amino acid absorption/transport disorder
Definition	Cystinuria is a renal tubular amino acid transport disorder characterized by recurrent formation of kidneys cystine stones.
Disease Hierarchy	DISZ75RJ: Inherited renal tubular disease DIS6SVEE: Syndromic disease DIS1BLHT: Inborn disorder of amino acid transport DISCU7CO: Cystinuria
ICD Code	ICD-11 ICD-11: 5C60.2
Disease Identifiers	MONDO ID MONDO_0009067 MESH ID D003555 UMLS CUI C0010691 OMIM ID 220100 MedGen ID 8226 HPO ID HP:0003131 Orphanet ID 214 SNOMED CT ID 85020001

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 2 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Penicillamine	DM40EF6	Approved	Small molecular drug	[1]
Tiopronin	DMAR7N0	Approved	Small molecular drug	[2]
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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
AGXT	TTF5NVW	Limited	Genetic Variation	[3]
PREPL	TT3HYDO	Strong	Genetic Variation	[4]
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This Disease Is Related to 6 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC7A10	DTVL2JY	Limited	Genetic Variation	[5]
SLC7A13	DTMWE5P	Limited	Genetic Variation	[3]
SLC7A7	DTE4HJ8	Limited	Genetic Variation	[6]
SLC3A1	DTBCKVM	Definitive	Autosomal recessive	[7]
SLC7A9	DTP7AEQ	Definitive	Autosomal recessive	[7]
SLC7A9	DTP7AEQ	Definitive	Genetic Variation	[3]
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⏷ Show the Full List of 6 DTP(s)

This Disease Is Related to 7 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CYCS	OTBFALJD	Limited	Biomarker	[8]
DDX39A	OT0Z6E1K	Limited	Altered Expression	[9]
DDX39B	OTEVCFVU	Limited	Altered Expression	[9]
HLCS	OTPDUX30	Limited	Biomarker	[8]
KAT8	OT5LPQTR	Limited	Biomarker	[10]
SLC3A1	OT56V01A	Definitive	Autosomal recessive	[7]
SLC7A9	OTMNY2WA	Definitive	Autosomal recessive	[7]
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⏷ Show the Full List of 7 DOT(s)

References

1	Penicillamine FDA Label
2	Drugs@FDA. U.S. Food and Drug Administration. U.S. Department of Health & Human Services. 2015
3	No evidence for point mutations in the novel renal cystine transporter AGT1/SLC7A13 contributing to the etiology of cystinuria.BMC Nephrol. 2018 Oct 20;19(1):278. doi: 10.1186/s12882-018-1080-5.
4	Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants.Mol Genet Genomic Med. 2017 May 16;5(4):373-389. doi: 10.1002/mgg3.294. eCollection 2017 Jul.
5	The amino acid transporter asc-1 is not involved in cystinuria.Kidney Int. 2004 Oct;66(4):1453-64. doi: 10.1111/j.1523-1755.2004.00908.x.
6	The genetics of heteromeric amino acid transporters.Physiology (Bethesda). 2005 Apr;20:112-24. doi: 10.1152/physiol.00051.2004.
7	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.
8	Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuria.Am J Med Genet A. 2013 Aug;161A(8):1853-9. doi: 10.1002/ajmg.a.35994. Epub 2013 Jun 21.
9	Human cystinuria-related transporter: localization and functional characterization.Kidney Int. 2001 May;59(5):1821-33. doi: 10.1046/j.1523-1755.2001.0590051821.x.
10	A highly selective and sensitive fluorescent sensor based on Tb(3+)-functionalized MOFs to determine arginine in urine: a potential application for the diagnosis of cystinuria.Analyst. 2019 Oct 7;144(19):5875-5881. doi: 10.1039/c9an01204d. Epub 2019 Sep 5.