Elevated intracellular cystine

Symptom Information:

Symptom ID: HPO:0003358
Synonyms:
Quality:
Cross references:
Is a (Direct Parents):
HPO         Abnormality of cysteine metabolism
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of metabolism/homeostasis(HPO:0001939)
          Abnormality of carboxylic acid metabolism(HPO:0004354)
             Abnormality of amino acid metabolism(HPO:0004337)
                Abnormality of sulfur amino acid metabolism(HPO:0004339)
                   Abnormality of cysteine metabolism(HPO:0010918)
                      Elevated intracellular cystine(HPO:0003358)
MedDRA:
Database Frequency: 4 / 7739
Resource:

All diseases associated with this symptom:

CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE (OMIM:219900)
CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Cystinosis (Orphanet:213)
Cystinosis, adult nonnephropathic (OMIM:219750)