Details of Disease

General Information of Disease (ID: DIS1U9XG)

• Disease Name: Juvenile nephropathic cystinosis
• Synonyms: cystinosis, late-onset juvenile or adolescent nephropathic type; cystinosis, intermediate; intermediate cystinosis; cystinosis, late-onset juvenile or adolescent nephropathic; juvenile cystinosis; juvenile nephropathic cystinosis
• Definition: Nephropathic juvenile cystinosis is the intermediate form, in regards to severity and age of onset, 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
  DIS1U9XG: Juvenile nephropathic cystinosis
• Disease Identifiers:
  MONDO ID: MONDO_0009066
  MESH ID: C562683
  UMLS CUI: C0268626
  OMIM ID: 219900
  MedGen ID: 75701
  Orphanet ID: 411634
  SNOMED CT ID: 22830006

Molecular Interaction Atlas (MIA) of This Disease

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 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CTNS	OT1BS5V9	Strong	Autosomal recessive	[2]
FARP2	OTNRQIMK	Strong	Genetic Variation	[3]

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.
• [3] Cystinosis in the Federal Republic of Germany. Coordination and analysis of the data.J Inherit Metab Dis. 1985;8(1):2-4. doi: 10.1007/BF01805472.