Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Enlarged liver
Always present (100%)HP:0002240
Increased circulating iron concentration
Always present (100%)HP:0003452
Abnormality of iron homeostasis
Very frequent (80-99%)HP:0011031
Congenital hepatic fibrosis
Very frequent (80-99%)HP:0002612
Elevated transferrin saturation
Very frequent (80-99%)HP:0012463
Increased serum ferritin level
Very frequent (80-99%)HP:0003281
Isolated hypogonadotropic hypogonadism
Very frequent (80-99%)HP:0000044
Cirrhosis
Frequent (30-79%)HP:0001394
Decreased activity of gonads
Frequent (30-79%)HP:0000135
Diabetes mellitus
Frequent (30-79%)HP:0000819
Difficulty getting an erection
Frequent (30-79%)HP:0000802
Disease of the joints
Frequent (30-79%)HP:0003040
Generalised hyperpigmentation
Frequent (30-79%)HP:0007440
Increased liver function tests
Frequent (30-79%)HP:0002910
Muscle weakness
Frequent (30-79%)HP:0001324
Abnormality of endocrine pancreas physiology
Occasional (5-29%)HP:0012093
Disease of the heart muscle
Occasional (5-29%)HP:0001638
Osteoporosis
Occasional (5-29%)HP:0000939
Abnormal heart rate
HP:0011675
Amenorrhea
HP:0000141
Arthritis
HP:0001369
Azoospermia
HP:0000027
Heart failure
HP:0001635
Infertility
HP:0000789
Languor
HP:0001254
Large spleen
HP:0001744
Patchy darkened skin
HP:0000953
Stretched and thinned heart muscle
HP:0001644
Related Conditions
Type 2A juvenile hereditary hemochromatosis(child)
Type 2B juvenile hereditary hemochromatosis(child)
Hereditary hemochromatosis(parent)
Recessive hereditary disorder (autosomal)(parent)
Cardiovascular system hereditary disorder(parent)
Hereditary disorder of endocrine system(parent)
Reproductive system hereditary disorder(parent)
Hypogonadism(parent)
Cardiomyopathy(parent)
Quick Facts
- SNOMED CT
- 50855007
- UMLS CUI
- C0268060
- Fully Specified Name
- Juvenile hemochromatosis (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 28
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.