Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Attenuation of retinal blood vessels
Always present (100%)HP:0007843
Elevated glycated haemoglobin
Always present (100%)HP:0040217
Hyperglycemia
Always present (100%)HP:0003074
Poor vision
Always present (100%)HP:0000505
Sensorineural deafness
Always present (100%)HP:0000407
Blindness
Very frequent (80-99%)HP:0000618
Body fails to respond to insulin
Very frequent (80-99%)HP:0000855
Breakdown of light-sensitive cells in back of eye
Very frequent (80-99%)HP:0000556
Cone-rod retinal dystrophy
Very frequent (80-99%)HP:0000548
Decreased body height
Very frequent (80-99%)HP:0004322
Hyperlipidemia
Very frequent (80-99%)HP:0003077
Increased triglycerides
Very frequent (80-99%)HP:0002155
Involuntary, rapid, rhythmic eye movements
Very frequent (80-99%)HP:0000639
Obesity
Very frequent (80-99%)HP:0001513
Otitis media
Very frequent (80-99%)HP:0000388
Progressive sensorineural hearing impairment
Very frequent (80-99%)HP:0000408
Visual loss
Very frequent (80-99%)HP:0000572
Abnormal liver enzymes
Frequent (30-79%)HP:0002910
Abnormal liver physiology
Frequent (30-79%)HP:0031865
Acanthosis nigricans
Frequent (30-79%)HP:0000956
Chronic bronchitis
Frequent (30-79%)HP:0004469
Dorsocervical fat pad
Frequent (30-79%)HP:0025383
Elevated gamma-glutamyltransferase level
Frequent (30-79%)HP:0030948
Excessive growth of inner surface of the frontal bone
Frequent (30-79%)HP:0004438
Fallen arches
Frequent (30-79%)HP:0001763
High blood pressure
Frequent (30-79%)HP:0000822
Hunched back
Frequent (30-79%)HP:0002808
Hyperinsulinemia
Frequent (30-79%)HP:0000842
Hyperphagia
Frequent (30-79%)HP:0002591
Lens opacities
Frequent (30-79%)HP:0000518
Related Conditions
Recessive hereditary disorder (autosomal)(parent)
Multiple system malformation syndrome(parent)
Sensorineural hearing loss(parent)
Developmental hereditary disorder(parent)
Hereditary metabolic disease(parent)
Hereditary retinal dystrophy(parent)
Digestive system hereditary disorder(parent)
Hereditary disorder of endocrine system(parent)
Insulin resistance(parent)
Hyperinsulinism(parent)
Disorder of digestive system specific to fetus OR newborn(parent)
Genetic syndromic childhood obesity(parent)
Hereditary hearing loss(parent)
Quick Facts
- SNOMED CT
- 63702009
- UMLS CUI
- C0268425
- Fully Specified Name
- Alstrom syndrome (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.