Overview
Mevalonic aciduria 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.
Abnormal liver function
Always present (100%)HP:0002910
Attenuation of retinal blood vessels
Always present (100%)HP:0007843
Degeneration of cerebellum
Always present (100%)HP:0001272
Elevated circulating creatine phosphokinase
Always present (100%)HP:0003236
Elevated urine mevalonate
Always present (100%)HP:0032638
Failure to thrive in first year of life
Always present (100%)HP:0001531
Increased lactate dehydrogenase level
Always present (100%)HP:0025435
Increased total leukocyte count
Always present (100%)HP:0001974
Low number of red blood cells or hemoglobin
Always present (100%)HP:0001903
Susceptibility to infection
Always present (100%)HP:0002719
Cerebral cortex atrophy
Very frequent (80-99%)HP:0002120
Cognitive delay
Very frequent (80-99%)HP:0001263
Decreased body height
Very frequent (80-99%)HP:0004322
Decreased size of cranium
Very frequent (80-99%)HP:0000252
Delayed skeletal development
Very frequent (80-99%)HP:0002750
Down-slanting palpebral fissure
Very frequent (80-99%)HP:0000494
Dull intelligence
Very frequent (80-99%)HP:0001249
Epilepsy
Very frequent (80-99%)HP:0001250
Hepatosplenomegaly
Very frequent (80-99%)HP:0001433
Inverted triangular face
Very frequent (80-99%)HP:0000325
Large spleen
Very frequent (80-99%)HP:0001744
Peripheral hypotonia
Very frequent (80-99%)HP:0001252
Turridolichocephaly
Very frequent (80-99%)HP:0000268
Wide bregma sutures
Very frequent (80-99%)HP:0000239
Ataxia
Frequent (30-79%)HP:0001251
Cataract
Frequent (30-79%)HP:0000518
Diarrhea
Frequent (30-79%)HP:0002014
Difficulty articulating speech
Frequent (30-79%)HP:0001260
Edema
Frequent (30-79%)HP:0000969
Elevated CRP
Frequent (30-79%)HP:0011227
Quick Facts
- SNOMED CT
- 718558008
- UMLS CUI
- C1959626
- Fully Specified Name
- Mevalonic aciduria (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.