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Cystinosis

disorder
SNOMED 190681003CUI C3495427

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Treatments & Interventions

Mercaptamine bitartrate

substance

Cysteamine

substance

Mercaptamine hydrochloride

substance

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Blindness
Always present (100%)HP:0000618
Blood in urine
Always present (100%)HP:0000790
Bone marrow cystine accumulation
Always present (100%)HP:6001033
Cognitive delay
Always present (100%)HP:0001263
Corneal deposits
Always present (100%)HP:0000531
Elevated leukocyte cystine
Always present (100%)HP:0032639
End-stage renal disease
Always present (100%)HP:0003774
Failure to thrive in first year of life
Always present (100%)HP:0001531
Hypomagnesemia
Always present (100%)HP:0002917
Hypopigmentation of hair
Always present (100%)HP:0005599
Hypopigmentation of the skin
Always present (100%)HP:0001010
Impaired galactose metabolism
Always present (100%)HP:0004915
Low-molecular-weight proteinuria
Always present (100%)HP:0003126
Medullary nephrocalcinosis
Always present (100%)HP:0012408
Reduced blood urea nitrogen
Always present (100%)HP:0031969
Weight loss
Always present (100%)HP:0001824
Abnormal hepatic glycogen storage
Very frequent (80-99%)HP:0500030
Aminoaciduria
Very frequent (80-99%)HP:0003355
De toni-fanconi-debre syndrome
Very frequent (80-99%)HP:0001994
Decreased body height
Very frequent (80-99%)HP:0004322
Dehydration
Very frequent (80-99%)HP:0001944
Delayed puberty
Very frequent (80-99%)HP:0000823
Extreme thirst
Very frequent (80-99%)HP:0001959
Galactose intolerance
Very frequent (80-99%)HP:0004919
Glucose tolerance decreased
Very frequent (80-99%)HP:0040270
Hyperphosphaturia
Very frequent (80-99%)HP:0003109
Hypophosphataemia
Very frequent (80-99%)HP:0002148
Hypothyroidism
Very frequent (80-99%)HP:0000821
Increased hepatic glycogen content
Very frequent (80-99%)HP:0006568
Kidney damage
Very frequent (80-99%)HP:0000112

Related Conditions

Juvenile nephropathic cystinosis(child)
Benign adult cystinosis(child)
Infantile nephropathic cystinosis(child)
Amino acid transport disorder(parent)
Recessive hereditary disorder (autosomal)(parent)
Lysosomal storage disease(parent)

Quick Facts

SNOMED CT
190681003
UMLS CUI
C3495427
Fully Specified Name
Cystinosis (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
30
Known Treatments
3
Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.