Methylenetetrahydrofolate reductase deficiency

Symptom Information:

Symptom ID: MedDRA:10070309
Synonyms:
Methylenetetrahydrofolate reductase deficiency [OMIM:Methylenetetrahydrofolate reductase deficiency]
Quality:
Cross references:
OMIM: "Methylenetetrahydrofolate reductase deficiency" [OMIM:Methylenetetrahydrofolate reductase deficiency]
Is a (Direct Parents):
MedDRA Abnormal bleeding
Is a (Whole tree): HPO:
MedDRA:
Blood and lymphatic system disorders(MedDRA:10005329)
    Coagulopathies and bleeding diatheses (excl thrombocytopenic)(MedDRA:10064477)
       Abnormal bleeding(HPO:0001892)
          Methylenetetrahydrofolate reductase deficiency(MedDRA:10070309)
Vascular disorders(MedDRA:10047065)
    Vascular haemorrhagic disorders(MedDRA:10047075)
       Haemorrhages NEC(MedDRA:10018987)
          Abnormal bleeding(HPO:0001892)
             Methylenetetrahydrofolate reductase deficiency(MedDRA:10070309)
Investigations(MedDRA:10022891)
    Haematology investigations (incl blood groups)(MedDRA:10018851)
       Coagulation and bleeding analyses(MedDRA:10009728)
          Abnormal bleeding(HPO:0001892)
             Methylenetetrahydrofolate reductase deficiency(MedDRA:10070309)
Database Frequency: 1 / 7739
Resource:

All diseases associated with this symptom:

Homocystinuria due to methylene tetrahydrofolate reductase deficiency (Orphanet:395)