Overview
Cobalamin C disease is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Decreased methylmalonyl-CoA mutase activity
Always present (100%)HP:0003210
Methionine synthase deficiency
Always present (100%)HP:0003524
Elevated plasma palmitoleylcarnitine, C16:1
Very frequent (80-99%)HP:0031544
Homocystinemia
Very frequent (80-99%)HP:0002160
Megaloblastic anemia
Very frequent (80-99%)HP:0001889
Methylmalonic acidemia
Very frequent (80-99%)HP:0002912
Methymalonicaciduria
Very frequent (80-99%)HP:0012120
Poor school performance
Very frequent (80-99%)HP:0001249
Acute kidney injury
Frequent (30-79%)HP:0001919
Bradycardia
Frequent (30-79%)HP:0001662
Decreased size of cranium
Frequent (30-79%)HP:0000252
Enlarged liver
Frequent (30-79%)HP:0002240
Feeding difficulties
Frequent (30-79%)HP:0011968
Gingivostomatitis
Frequent (30-79%)HP:0010280
Glomerulopathy
Frequent (30-79%)HP:0100820
Growth failure
Frequent (30-79%)HP:0001510
Heart stops beating
Frequent (30-79%)HP:0001695
Hypotension
Frequent (30-79%)HP:0002615
Impaired vision
Frequent (30-79%)HP:0000505
Inflammation of the tongue
Frequent (30-79%)HP:0000206
Involuntary, rapid, rhythmic eye movements
Frequent (30-79%)HP:0000639
Low birth weight
Frequent (30-79%)HP:0001518
Macular coloboma
Frequent (30-79%)HP:0001116
Macular pigmentary changes
Frequent (30-79%)HP:0008002
Optic atrophy
Frequent (30-79%)HP:0000648
Paleness
Frequent (30-79%)HP:0000980
Pigmentary retinal deposits
Frequent (30-79%)HP:0000580
Postnatal failure to thrive
Frequent (30-79%)HP:0001508
Racing heart
Frequent (30-79%)HP:0001649
Retinal degeneration
Frequent (30-79%)HP:0000546
Related Conditions
Quick Facts
- SNOMED CT
- 74653006
- UMLS CUI
- C1848561
- Fully Specified Name
- Cobalamin C disease (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
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.