Details of Disease | DrugMAP

General Information of Disease (ID: DISEEN1S)

Disease Name	Nephropathic infantile cystinosis
Synonyms	CTNS; cystinosis, atypical nephropathic; cystinosin, defect of; lysosomal cystine transport protein, defect of; nephropathic infantile cystinosis; cystinosis, infantile nephropathic
Definition	Nephropathic infantile cystinosis is the most common and severe form of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes.
Disease Hierarchy	DIS1BLHT: Inborn disorder of amino acid transport DISNAU3W: Nephropathic cystinosis DISEEN1S: Nephropathic infantile cystinosis
Disease Identifiers	MONDO ID MONDO_0018467 MESH ID C565655 UMLS CUI C3537440 MedGen ID 760976 Orphanet ID 411629 SNOMED CT ID 62332007

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	Genetic Variation	[1]
CTNS	TT1W2ZS	Supportive	Autosomal recessive	[2]
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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	Supportive	Autosomal recessive	[2]
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References

1	CTNSmRNA molecular analysis revealed a novel mutation in a child with infantile nephropathic cystinosis: a case report.BMC Nephrol. 2019 Oct 31;20(1):400. doi: 10.1186/s12882-019-1589-2.
2	Cystinosis. 2001 Mar 22 [updated 2017 Dec 7]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.