Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Bowed lower limbs
Always present (100%)HP:0002979
Genu valga
Always present (100%)HP:0002857
Hypercitraturia
Always present (100%)HP:0012406
Hyperuricaemia
Always present (100%)HP:0002149
Hyposthenuria
Always present (100%)HP:0003158
Increased circulating beta-C-terminal telopeptide concentration
Always present (100%)HP:0031425
Increased creatinine
Always present (100%)HP:0003259
Kidney Ca wasting
Always present (100%)HP:0012637
Low serum 1,25-dihydroxyvitamin D3
Always present (100%)HP:0012052
Muscle weakness
Always present (100%)HP:0001324
Nephrocalcinosis
Always present (100%)HP:0000121
Proteinuria
Always present (100%)HP:0000093
Renal failure
Always present (100%)HP:0000083
Renal magnesium wasting
Always present (100%)HP:0005567
Shortened long bones of hand
Always present (100%)HP:0010049
Amelogenesis imperfecta
Very frequent (80-99%)HP:0000705
Distal renal tubular acidosis
Very frequent (80-99%)HP:0008341
Extreme thirst
Very frequent (80-99%)HP:0001959
Hypercalciuria
Very frequent (80-99%)HP:0002150
Hypermagnesiuria
Very frequent (80-99%)HP:0012608
Hypomagnesemia
Very frequent (80-99%)HP:0002917
Increased serum parathyroid hormone
Very frequent (80-99%)HP:0003165
Increased urine output
Very frequent (80-99%)HP:0000103
Macroscopic hematuria
Very frequent (80-99%)HP:0012587
Acidosis
Frequent (30-79%)HP:0001941
Decreased body height
Frequent (30-79%)HP:0004322
Elevated alkaline phosphatase
Frequent (30-79%)HP:0003155
High blood pressure
Frequent (30-79%)HP:0000822
High urine uric acid level
Frequent (30-79%)HP:0003149
Hyperphosphatemia
Frequent (30-79%)HP:0002905
Related Conditions
Isolated familial intestinal hypomagnesemia(child)
Isolated familial renal hypomagnesemia(child)
Familial hypomagnesemia-hypercalciuria(child)
Hypomagnesemia with secondary hypocalcemia(child)
Familial primary hypomagnesemia with normocalciuria(child)
Hypomagnesemia co-occurrent with normocalciuria(child)
Isolated autosomal dominant hypomagnesemia Glaudemans type(child)
Autosomal dominant primary hypomagnesemia with hypocalciuria(child)
Primary hypomagnesemia, refractory seizures, intellectual disability syndrome(child)
Gitelman's syndrome(child)
Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome(child)
Epidermal growth factor-related primary hypomagnesaemia with intellectual disability(child)
Metabolic disorder of transport(parent)
Hypomagnesaemia(parent)
Quick Facts
- SNOMED CT
- 80710001
- UMLS CUI
- C0268448
- Fully Specified Name
- Primary hypomagnesemia (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.