Cystinosis, nephropathic

Preferred Label : Cystinosis, nephropathic;

Symbol : CTNS;

CISMeF acronym : CTNS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Lysosomal cystine transport protein, defect of; Cystinosin, defect of;

Included titles and symbols : Cystinosis, infantile nephropathic; Cystinosis, atypical nephropathic;

Description : Cystinosis has been classified as a lysosomal storage disorder on the basis of cytologic and other evidence pointing to the intralysosomal localization of stored cystine. Cystinosis differs from the other lysosomal diseases inasmuch as acid hydrolysis, the principal enzyme function of lysosomes, is not known to play a role in the metabolic disposition of cystine. The fact that plasma levels are well below saturation indicates that the defect is a cellular one. Within the cell, cystine is compartmentalized with acid phosphatase and is membrane-bound as demonstrated by electron microscopy. Ferritin accumulates in the same organelle which appears to be the lysosome.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the cystinosin gene (CTNS, 219800.0001);

Laboratory abnormalities : Proteinuria; Glucosuria; Normal blood glucose; Hyponatremia; Kypokalemia; Carnitine deficiency; Hypophosphatemia; Generalized aminoaciduria; Microscopic hematuria; Elevated white blood cell cystine;

Prefixed ID : #219800;

Details

Origin ID

219800;

UMLS CUI

C2931187;

Automatic exact mappings (from CISMeF team)
- CTN [MeSH concept]
- CTNS gene [LOINC component]
- Infantile nephropathic cystinosis [ORDO Disease]
- cystinosin, lysosomal cystine transporter [HGNC gene]
- cystinosin, lysosomal cystine transporter [ORDO Gene]
- cystinosis, infantile nephropathic [MeSH concept]
- cystinosis, infantile nephropathic [MeSH Supplementary Concept]
- infantile nephropathic cystinosis [SNOMED Notion]
Currated CISMeF NLP mapping
- Cystinosis [ORDO Disease]
- Fanconi syndrome [Disease (Nov.)]
- Fanconi syndrome [DO Concept]
- Nephropathic Cystinosis [NCIt concept]
- Nephropathic cystinosis [MedDRA LLT]
- cystinosis [MeSH Descriptor]
- fanconi syndrome [MeSH Descriptor]
DO Cross reference
- cystinosis [DO Concept]
Genes related to phenotype
- Cystinosin [OMIM gene]
HPO term(s)
- Aminoaciduria [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blindness [HPO term]
- Cerebral atrophy [HPO term]
- Cerebral calcification [HPO term]
- Corneal crystals [HPO term]
- Decreased plasma carnitine [HPO term]
- Dehydration [HPO term]
- Delayed puberty [HPO term]
- Delayed skeletal maturation [HPO term]
- Diabetes mellitus [HPO term]
- Dysphagia [HPO term]
- Elevated intracellular cystine [HPO term]
- Episodic metabolic acidosis [HPO term]
- Exocrine pancreatic insufficiency [HPO term]
- Failure to thrive in first year of life [HPO term]
- Failure to thrive in infancy [HPO term]
- Frontal bossing [HPO term]
- Generalized aminoaciduria [HPO term]
- Genu valgum [HPO term]
- Global developmental delay [HPO term]
- Glycosuria [HPO term]
- Growth delay [HPO term]
- Hepatomegaly [HPO term]
- Hyperphosphaturia [HPO term]
- Hypohidrosis [HPO term]
- Hypokalemia [HPO term]
- Hyponatremia [HPO term]
- Hypophosphatemia [HPO term]
- Hypophosphatemic rickets [HPO term]
- Hypopigmentation of hair [HPO term]
- Hypopigmentation of the skin [HPO term]
- Infantile onset [HPO term]
- Low-molecular-weight proteinuria [HPO term]
- Male hypogonadism [HPO term]
- Male infertility [HPO term]
- Medullary nephrocalcinosis [HPO term]
- Metabolic acidosis [HPO term]
- Metaphyseal widening [HPO term]
- Microscopic hematuria [HPO term]
- Myopathy [HPO term]
- Nephrolithiasis [HPO term]
- Oral motor hypotonia [HPO term]
- Oral-pharyngeal dysphagia [HPO term]
- Pancreatic insufficiency [HPO term]
- Photophobia [HPO term]
- Pigmentary retinopathy [HPO term]
- Polydipsia [HPO term]
- Polyuria [HPO term]
- Primary hypothyroidism [HPO term]
- Progressive neurologic deterioration [HPO term]
- Proteinuria [HPO term]
- Rachitic rosary [HPO term]
- Recurrent corneal erosions [HPO term]
- Recurrent episodes of acidosis [HPO term]
- Reduced visual acuity [HPO term]
- Renal Fanconi syndrome [HPO term]
- Renal insufficiency [HPO term]
- Retinal pigment epithelial mottling [HPO term]
- Retinopathy [HPO term]
- Rickets [HPO term]
- Short stature [HPO term]
- Skeletal muscle atrophy [HPO term]
- Splenomegaly [HPO term]
- Stage 5 chronic kidney disease [HPO term]
- Visual impairment [HPO term]
- Weight loss [HPO term]
Not associated HPO term(s)
- Intellectual disability [HPO term]
ORDO concept(s)
- Cystinosis [ORDO Disease]
- Infantile nephropathic cystinosis [ORDO Disease]
See also inter- (CISMeF)
- Cystinuria [ICD-11 Subcategory]
- Fanconi syndrome [ICD-11 Sub-sub category]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Nephropathic Cystinosis [NCIt concept]
- Nephropathic cystinosis [MedDRA LLT]
- cystinosis [MeSH concept]
- cystinosis [DO Concept]
- cystinosis, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- Infantile nephropathic cystinosis (disorder) [SNOMED CT concept]

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