Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Enlarged liver
Always present (100%)HP:0002240
Erythroid hypoplasia
Always present (100%)HP:0012133
Irritability
Always present (100%)HP:0000737
Macrocytic anemia
Always present (100%)HP:0001972
Undergrowth
Always present (100%)HP:0001508
Abnormality of chromosome stability
Very frequent (80-99%)HP:0003220
Acute kidney injury
Very frequent (80-99%)HP:0001919
Megaloblastic bone marrow
Very frequent (80-99%)HP:0001980
Methymalonicaciduria
Very frequent (80-99%)HP:0012120
Absolute lymphocyte count decrease
Frequent (30-79%)HP:0001888
Decreased circulating immunoglobulin concentration
Frequent (30-79%)HP:0004313
Decreased circulating total IgM
Frequent (30-79%)HP:0002850
Decreased serum IgG
Frequent (30-79%)HP:0004315
Diarrhea
Frequent (30-79%)HP:0002014
Homocystinemia
Frequent (30-79%)HP:0002160
Low levels of immunoglobulin A
Frequent (30-79%)HP:0002720
Low number of red blood cells or haemoglobin
Frequent (30-79%)HP:0001903
Low platelet count
Frequent (30-79%)HP:0001873
Muscular hypotonia
Frequent (30-79%)HP:0001252
Neutropoenia
Frequent (30-79%)HP:0001875
Pancytopenia
Frequent (30-79%)HP:0001876
Vomiting
Frequent (30-79%)HP:0002013
Abnormal serum folate
Excluded (<1%)HP:0040087
Abnormal vitamin B12 level
Excluded (<1%)HP:0040126
Ataxia
HP:0001251
Languor
HP:0001254
Low intelligence
HP:0001249
Muscle weakness
HP:0001324
Reticulocytopenia
HP:0001896
Quick Facts
- SNOMED CT
- 237934001
- UMLS CUI
- C0342701
- Fully Specified Name
- Transcobalamin II deficiency (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 29
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.