Details of Disease

General Information of Disease (ID: DISNAU3W)

Disease Name	Nephropathic cystinosis
Synonyms	CTNS; Abderhalden-Kaufmann-Lignac syndrome; cystinosis, atypical nephropathic; cystinosis, nephropathic; Abderhalden Kaufmann Lignac syndrome; Abderhalden Lignac Kaufmann disease; Abderhalden-Lignac-Kaufmann disease
Disease Class	5C60: Amino acid absorption/transport disorder
Definition	An autosomal recessive condition caused by mutation(s) in the CTNS gene, encoding cystinosin. It is a sub-type of cystinosis, in which accumulation of cystine in the kidney results in renal dysfunction.
Disease Hierarchy	DISCPWH9: Autosomal recessive disease DISXY3VI: Cystinosis DISNAU3W: Nephropathic cystinosis
ICD Code	ICD-11 ICD-11: 5C60 ICD-10 ICD-10: E72.0 Expand ICD-11 '5C60.Z
Disease Identifiers	MONDO ID MONDO_0100151 UMLS CUI C2931187 OMIM ID 219800 MedGen ID 419735

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

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

Drug Name	Drug ID	Highest Status	Drug Type	REF
Cysteamine	DMSYFM8	Approved	Small molecular drug	[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
CYP51A1	TT67TDP	Strong	Genetic Variation	[2]
CTNS	TT1W2ZS	Definitive	Autosomal recessive	[3]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CTNS	OT1BS5V9	Definitive	Autosomal recessive	[3]
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References

1	Drugs@FDA. U.S. Food and Drug Administration. U.S. Department of Health & Human Services. 2015
2	Analysis of the CTNS gene in nephropathic cystinosis Mexican patients: report of four novel mutations and identification of a false positive 57-kb deletion genotype with LDM-2/exon 4 multiplex PCR assay.Genet Test. 2008 Sep;12(3):409-14. doi: 10.1089/gte.2008.0014.
3	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.