Overview
5-amino-4-imidazole carboxamide ribosiduria 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.
Elevated erythrocyte AICA-ribotide concentration
Always present (100%)HP:6000752
Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level
Always present (100%)HP:0034565
Esotropia
Always present (100%)HP:0000565
Hyponatremia
Always present (100%)HP:0002902
IQ less than 20
Always present (100%)HP:0002187
Low blood sugar
Always present (100%)HP:0001943
Nostrils anteverted
Always present (100%)HP:0000463
Optic atrophy
Always present (100%)HP:0000648
Patent ostium secundum
Always present (100%)HP:0001684
Peripheral hypotonia
Always present (100%)HP:0001252
Prominent frontal suture
Always present (100%)HP:0005487
Prominent nasal root
Always present (100%)HP:0000426
Skin dimples
Always present (100%)HP:0010781
Bulging forehead
Very frequent (80-99%)HP:0011220
Congenital blindness
Very frequent (80-99%)HP:0007875
Decreased volume of upper lip
Very frequent (80-99%)HP:0000219
Epilepsy
Very frequent (80-99%)HP:0001250
Fused labia minora
Very frequent (80-99%)HP:0000063
Large mouth
Very frequent (80-99%)HP:0000154
Low-set ears
Very frequent (80-99%)HP:0000369
Mental retardation, severe
Very frequent (80-99%)HP:0010864
Prominent clitoris
Very frequent (80-99%)HP:0008665
Short and broad skull
Very frequent (80-99%)HP:0000248
Frontal protuberance
HP:0002007
Related Conditions
Disorder of purine metabolism(parent)
Multiple malformation syndrome with limb defect as major feature(parent)
Congenital anomaly of limb(parent)
Recessive hereditary disorder (autosomal)(parent)
Hereditary macular dystrophy(parent)
Congenital anomaly of macula(parent)
Developmental hereditary disorder(parent)
Genetic intellectual disability(parent)
Quick Facts
- SNOMED CT
- 725289009
- UMLS CUI
- C1837530
- Fully Specified Name
- 5-amino-4-imidazole carboxamide ribosiduria (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 24
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.