Hyperhomocystinemia

Symptom Information:

Symptom ID: HPO:0002160
Synonyms:
Homocystinemia [HPO:0002160]
Homocystinaemia [HPO:0002160]
Homocystinemia [OMIM:Homocystinemia]
Hyperhomocystinemia [OMIM:Hyperhomocystinemia]
Homocystinaemia [MedDRA:10048707]
Quality:
Cross references:
OMIM: "Homocystinemia" [OMIM:Homocystinemia]
OMIM: "Hyperhomocystinemia" [OMIM:Hyperhomocystinemia]
UMLS:C0268617 "Homocystinaemia" [HPO:0002160]
Is a (Direct Parents):
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 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)
                      Hyperhomocystinemia(HPO:0002160)
MedDRA:
Congenital, familial and genetic disorders(MedDRA:10010331)
    Metabolic and nutritional disorders congenital(MedDRA:10027424)
       Abnormality of amino acid metabolism(HPO:0004337)
          Hyperhomocystinemia(HPO:0002160)
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)
             Hyperhomocystinemia(HPO:0002160)
Investigations(MedDRA:10022891)
    Protein and chemistry analyses NEC(MedDRA:10037000)
       Protein analyses NEC(MedDRA:10036998)
          Abnormality of amino acid metabolism(HPO:0004337)
             Hyperhomocystinemia(HPO:0002160)
Database Frequency: 10 / 7739
Resource:

All diseases associated with this symptom:

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)
Vitamin B12-responsive methylmalonic acidemia, type cblDv2 (Orphanet:308442)