Homocystinuria

Symptom Information:

Symptom ID: HPO:0002156
Synonyms:
HOMOCYSTINURIA [HPO:0002156]
Homocystinuria [OMIM:Homocystinuria]
Homocystinuria (in some patients) [OMIM:Homocystinuria (in some patients)]
Homocystinuria [MedDRA:10020365]
Quality:
Cross references:
OMIM: "Homocystinuria" [OMIM:Homocystinuria]
OMIM: "Homocystinuria (in some patients)" [OMIM:Homocystinuria (in some patients)]
UMLS:C1439329 "HOMOCYSTINURIA" [HPO:0002156]
Is a (Direct Parents):
HPO         Aminoaciduria
HPO         Abnormality of homocysteine metabolism
MedDRA Abnormality of 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)
                         Homocystinuria(HPO:0002156)
       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 homocysteine metabolism(HPO:0010919)
                      Homocystinuria(HPO:0002156)
                Aminoaciduria(HPO:0003355)
                   Homocystinuria(HPO:0002156)
          Abnormality of urine homeostasis(HPO:0003110)
             Aciduria(HPO:0012072)
                Aminoaciduria(HPO:0003355)
                   Homocystinuria(HPO:0002156)
MedDRA:
Congenital, familial and genetic disorders(MedDRA:10010331)
    Metabolic and nutritional disorders congenital(MedDRA:10027424)
       Abnormality of amino acid metabolism(HPO:0004337)
          Homocystinuria(HPO:0002156)
Metabolism and nutrition disorders(MedDRA:10027433)
    Protein and amino acid metabolism disorders NEC(MedDRA:10037008)
       Amino acid metabolism disorders NEC(MedDRA:10036999)
          Abnormality of amino acid metabolism(HPO:0004337)
             Homocystinuria(HPO:0002156)
Investigations(MedDRA:10022891)
    Protein and chemistry analyses NEC(MedDRA:10037000)
       Protein analyses NEC(MedDRA:10036998)
          Abnormality of amino acid metabolism(HPO:0004337)
             Homocystinuria(HPO:0002156)
Database Frequency: 12 / 7739
Resource:

All diseases associated with this symptom:

Classical homocystinuria (Orphanet:394)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency (Orphanet:395)
Methylcobalamin deficiency type cblDv1 (Orphanet:308380)
Methylcobalamin deficiency type cblE (Orphanet:2169)
Methylcobalamin deficiency type cblG (Orphanet:2170)
Methylmalonic acidemia with homocystinuria (Orphanet:26)
Methylmalonic acidemia with homocystinuria, type cblC (Orphanet:79282)
Methylmalonic acidemia with homocystinuria, type cblD (Orphanet:79283)
Methylmalonic acidemia with homocystinuria, type cblF (Orphanet:79284)
Methylmalonic acidemia with homocystinuria, type cblJ (Orphanet:369955)
Methylmalonic acidemia with homocystinuria, type cblX (Orphanet:369962)
Vitamin B12-responsive methylmalonic acidemia, type cblDv2 (Orphanet:308442)