Cystathioninuria

Symptom Information:

Symptom ID: HPO:0003153
Synonyms:
Cystathioninuria [OMIM:Cystathioninuria]
Quality:
Cross references:
OMIM: "Cystathioninuria" [OMIM:Cystathioninuria]
UMLS:C0220993 "Cystathioninuria" [HPO:0003153]
Is a (Direct Parents):
HPO         Aminoaciduria
HPO         Abnormality of sulfur amino acid metabolism
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the genitourinary system(HPO:0000119)
          Abnormality of the urinary system(HPO:0000079)
             Abnormality of the urinary system physiology(HPO:0011277)
                Abnormality of urine homeostasis(HPO:0003110)
                   Aciduria(HPO:0012072)
                      Aminoaciduria(HPO:0003355)
                         Cystathioninuria(HPO:0003153)
       Abnormality of metabolism/homeostasis(HPO:0001939)
          Abnormality of urine homeostasis(HPO:0003110)
             Aciduria(HPO:0012072)
                Aminoaciduria(HPO:0003355)
                   Cystathioninuria(HPO:0003153)
          Abnormality of carboxylic acid metabolism(HPO:0004354)
             Abnormality of amino acid metabolism(HPO:0004337)
                Abnormality of sulfur amino acid metabolism(HPO:0004339)
                   Cystathioninuria(HPO:0003153)
                Aminoaciduria(HPO:0003355)
                   Cystathioninuria(HPO:0003153)
MedDRA:
Database Frequency: 5 / 7739
Resource:

All diseases associated with this symptom:

Cystathioninuria (Orphanet:212)
Methylmalonic acidemia with homocystinuria (Orphanet:26)
Methylmalonic acidemia with homocystinuria, type cblC (Orphanet:79282)
Methylmalonic acidemia with homocystinuria, type cblF (Orphanet:79284)
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency (Orphanet:279934)