Overview
Familial hypocalciuric hypercalcaemia 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.
Hypercalcemia
Always present (100%)HP:0003072
Low urine calcium levels
Always present (100%)HP:0003127
Parathormone-independent increased renal tubular calcium reabsorption
Very frequent (80-99%)HP:0003529
Reduced ratio of renal calcium clearance to creatinine clearance
Very frequent (80-99%)HP:0003513
Osteomalacia
Frequent (30-79%)HP:0002749
Renal hypophosphatemia
Frequent (30-79%)HP:0008732
Calcium deposits in joints
Occasional (5-29%)HP:0000934
Decreased urine magnesium
Occasional (5-29%)HP:0012609
Episodic abdominal pain
Occasional (5-29%)HP:0002574
Headache
Occasional (5-29%)HP:0002315
High blood Mg levels
Occasional (5-29%)HP:0002918
Nausea and vomiting
Occasional (5-29%)HP:0002017
Sore in the lining of gastrointestinal tract
Occasional (5-29%)HP:0004398
Tiredness
Occasional (5-29%)HP:0012378
Autoimmunity
Very rare (1-4%)HP:0002960
Fatty lump
Very rare (1-4%)HP:0012032
Kidney stones
Very rare (1-4%)HP:0000787
Pancreatitis
Very rare (1-4%)HP:0001733
Seizures due to hypocalcemia
Very rare (1-4%)HP:0002199
Related Conditions
Quick Facts
- SNOMED CT
- 237885008
- UMLS CUI
- C1809471
- Fully Specified Name
- Familial hypocalciuric hypercalcemia (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 19
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.