Primary hypomagnesemia
- Synonyms
- HYPOMAGNESEMIA 3, RENAL; HYPOMAGNESEMIA, PRIMARY, DUE TO DEFECT IN RENAL TUBULAR TRANSPORT OF MAGNESIUM; Hypomagnesemia, familial, with hypercalciuria and nephrocalcinosis; Hypomagnesemia, isolated renal; Magnesium, defect in renal tubular transport of
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical features
Help- Abnormality of head or neck
- Enamel hypoplasia
Enamel hypoplasia
- MedGen UID: 3730
- Concept ID: C0011351
- Finding: Disease or Syndrome
Abnormality of head or neck
- Enamel hypoplasia
- Abnormality of limbs
- Genu valgum
Genu valgum
- MedGen UID: 154364
- Concept ID: C0576093
- Finding: Anatomical Abnormality
Abnormality of limbs
- Short metacarpal
Short metacarpal
- MedGen UID: 323064
- Concept ID: C1837084
- Finding: Anatomical Abnormality
Abnormality of limbs
- Genu valgum
- Abnormality of metabolism/homeostasis
- Abnormal circulating calcium concentration
Abnormal circulating calcium concentration
- MedGen UID: 868059
- Concept ID: C4022450
- Finding: Finding
Abnormality of metabolism/homeostasis
- Acidosis
Acidosis
- MedGen UID: 1296
- Concept ID: C0001122
- Finding: Pathologic Function
Abnormality of metabolism/homeostasis
- Distal renal tubular acidosis
Distal renal tubular acidosis
- MedGen UID: 853429
- Concept ID: C1704380
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Elevated circulating alkaline phosphatase concentration
Elevated circulating alkaline phosphatase concentration
- MedGen UID: 727252
- Concept ID: C1314665
- Finding: Finding
Abnormality of metabolism/homeostasis
- Elevated circulating creatinine concentration
Elevated circulating creatinine concentration
- MedGen UID: 148579
- Concept ID: C0700225
- Finding: Finding
Abnormality of metabolism/homeostasis
- Elevated circulating parathyroid hormone level
Elevated circulating parathyroid hormone level
- MedGen UID: 167805
- Concept ID: C0857973
- Finding: Finding
Abnormality of metabolism/homeostasis
- Hyperphosphatemia
Hyperphosphatemia
- MedGen UID: 39326
- Concept ID: C0085681
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Hyperuricemia
Hyperuricemia
- MedGen UID: 149260
- Concept ID: C0740394
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Hypocalcemia
Hypocalcemia
- MedGen UID: 5705
- Concept ID: C0020598
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Hypomagnesemia
Hypomagnesemia
- MedGen UID: 57481
- Concept ID: C0151723
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Increased circulating beta-C-terminal telopeptide concentration
Increased circulating beta-C-terminal telopeptide concentration
- MedGen UID: 1614490
- Concept ID: C4531129
- Finding: Finding
Abnormality of metabolism/homeostasis
- Low serum calcitriol
Low serum calcitriol
- MedGen UID: 868663
- Concept ID: C4023065
- Finding: Finding
Abnormality of metabolism/homeostasis
- Abnormal circulating calcium concentration
- Abnormality of the cardiovascular system
- Hypertensive disorder
Hypertensive disorder
- MedGen UID: 6969
- Concept ID: C0020538
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Hypertensive disorder
- Abnormality of the digestive system
- Feeding difficulties in infancy
Feeding difficulties in infancy
- MedGen UID: 436211
- Concept ID: C2674608
- Finding: Finding
Abnormality of the digestive system
- Vomiting
Vomiting
- MedGen UID: 12124
- Concept ID: C0042963
- Finding: Sign or Symptom
Abnormality of the digestive system
- Feeding difficulties in infancy
- Abnormality of the eye
- Astigmatism
Astigmatism
- MedGen UID: 2473
- Concept ID: C0004106
- Finding: Disease or Syndrome
Abnormality of the eye
- Hypermetropia
Hypermetropia
- MedGen UID: 43780
- Concept ID: C0020490
- Finding: Disease or Syndrome
Abnormality of the eye
- Myopia
Myopia
- MedGen UID: 44558
- Concept ID: C0027092
- Finding: Disease or Syndrome
Abnormality of the eye
- Nystagmus
Nystagmus
- MedGen UID: 45166
- Concept ID: C0028738
- Finding: Disease or Syndrome
Abnormality of the eye
- Strabismus
Strabismus
- MedGen UID: 21337
- Concept ID: C0038379
- Finding: Disease or Syndrome
Abnormality of the eye
- Astigmatism
- Abnormality of the genitourinary system
- Chronic kidney disease
Chronic kidney disease
- MedGen UID: 473458
- Concept ID: C1561643
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Hematuria
Hematuria
- MedGen UID: 5488
- Concept ID: C0018965
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Hypercalciuria
Hypercalciuria
- MedGen UID: 43775
- Concept ID: C0020438
- Finding: Finding
Abnormality of the genitourinary system
- Hypercitraturia
Hypercitraturia
- MedGen UID: 866741
- Concept ID: C4021090
- Finding: Finding
Abnormality of the genitourinary system
- Hypermagnesiuria
Hypermagnesiuria
- MedGen UID: 392920
- Concept ID: C2673443
- Finding: Finding
Abnormality of the genitourinary system
- Hyperuricosuria
Hyperuricosuria
- MedGen UID: 182691
- Concept ID: C0948643
- Finding: Finding
Abnormality of the genitourinary system
- Hypocitraturia
Hypocitraturia
- MedGen UID: 392921
- Concept ID: C2673444
- Finding: Finding
Abnormality of the genitourinary system
- Hyposthenuria
Hyposthenuria
- MedGen UID: 68565
- Concept ID: C0232831
- Finding: Finding
Abnormality of the genitourinary system
- Macroscopic hematuria
Macroscopic hematuria
- MedGen UID: 633103
- Concept ID: C0473237
- Finding: Finding
Abnormality of the genitourinary system
- Microscopic hematuria
Microscopic hematuria
- MedGen UID: 65997
- Concept ID: C0239937
- Finding: Finding
Abnormality of the genitourinary system
- Nephrocalcinosis
Nephrocalcinosis
- MedGen UID: 10222
- Concept ID: C0027709
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Nephrolithiasis
Nephrolithiasis
- MedGen UID: 98227
- Concept ID: C0392525
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Polyuria
Polyuria
- MedGen UID: 19404
- Concept ID: C0032617
- Finding: Sign or Symptom
Abnormality of the genitourinary system
- Proteinuria
Proteinuria
- MedGen UID: 10976
- Concept ID: C0033687
- Finding: Finding
Abnormality of the genitourinary system
- Recurrent urinary tract infections
Recurrent urinary tract infections
- MedGen UID: 120466
- Concept ID: C0262655
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Renal calcium wasting
Renal calcium wasting
- MedGen UID: 392919
- Concept ID: C2673441
- Finding: Finding
Abnormality of the genitourinary system
- Renal insufficiency
Renal insufficiency
- MedGen UID: 332529
- Concept ID: C1565489
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Renal magnesium wasting
Renal magnesium wasting
- MedGen UID: 1811452
- Concept ID: C5574944
- Finding: Finding
Abnormality of the genitourinary system
- Stage 5 chronic kidney disease
Stage 5 chronic kidney disease
- MedGen UID: 384526
- Concept ID: C2316810
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Sterile pyuria
Sterile pyuria
- MedGen UID: 548950
- Concept ID: C0281986
- Finding: Finding
Abnormality of the genitourinary system
- Chronic kidney disease
- Abnormality of the musculoskeletal system
- Amelogenesis imperfecta
Amelogenesis imperfecta
- MedGen UID: 240
- Concept ID: C0002452
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Bowing of the legs
Bowing of the legs
- MedGen UID: 1807399
- Concept ID: C5574706
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypomature enamel
Hypomature enamel
- MedGen UID: 1780034
- Concept ID: C1396276
- Finding: Finding
Abnormality of the musculoskeletal system
- Muscle weakness
Muscle weakness
- MedGen UID: 57735
- Concept ID: C0151786
- Finding: Finding
Abnormality of the musculoskeletal system
- Rickets
Rickets
- MedGen UID: 48470
- Concept ID: C0035579
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Tetany
Tetany
- MedGen UID: 11748
- Concept ID: C0039621
- Finding: Finding
Abnormality of the musculoskeletal system
- Amelogenesis imperfecta
- Abnormality of the nervous system
- Hypocalcemic seizures
Hypocalcemic seizures
- MedGen UID: 340985
- Concept ID: C1855841
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Polydipsia
Polydipsia
- MedGen UID: 43214
- Concept ID: C0085602
- Finding: Sign or Symptom
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Hypocalcemic seizures
- Constitutional symptom
- Abdominal pain
Abdominal pain
- MedGen UID: 7803
- Concept ID: C0000737
- Finding: Sign or Symptom
Constitutional symptom
- Abdominal pain
- Growth abnormality
- Failure to thrive
Failure to thrive
- MedGen UID: 746019
- Concept ID: C2315100
- Finding: Disease or Syndrome
Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Failure to thrive
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