Familial hypokalemia-hypomagnesemia
- Synonyms
- Gitelman Syndrome; Hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria; Potassium and magnesium depletion
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (65 available)
Biochemical Genetics Tests
Clinical features
Help- Abnormality of metabolism/homeostasis
- Hypokalemia
Hypokalemia
- MedGen UID: 5712
- Concept ID: C0020621
- Finding: Finding
Abnormality of metabolism/homeostasis
- Hypokalemic alkalosis
Hypokalemic alkalosis
- MedGen UID: 43208
- Concept ID: C0085570
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Hypomagnesemia
Hypomagnesemia
- MedGen UID: 57481
- Concept ID: C0151723
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Recurrent fever
Recurrent fever
- MedGen UID: 811468
- Concept ID: C3714772
- Finding: Sign or Symptom
Abnormality of metabolism/homeostasis
- Hypokalemia
- Abnormality of the cardiovascular system
- Hypotension
Hypotension
- MedGen UID: 5715
- Concept ID: C0020649
- Finding: Finding
Abnormality of the cardiovascular system
- Palpitations
Palpitations
- MedGen UID: 14579
- Concept ID: C0030252
- Finding: Finding
Abnormality of the cardiovascular system
- Prolonged QT interval
Prolonged QT interval
- MedGen UID: 57494
- Concept ID: C0151878
- Finding: Finding
Abnormality of the cardiovascular system
- Ventricular tachycardia
Ventricular tachycardia
- MedGen UID: 12068
- Concept ID: C0042514
- Finding: Finding
Abnormality of the cardiovascular system
- Hypotension
- Abnormality of the digestive system
- Constipation
Constipation
- MedGen UID: 1101
- Concept ID: C0009806
- Finding: Sign or Symptom
Abnormality of the digestive system
- Vomiting
Vomiting
- MedGen UID: 12124
- Concept ID: C0042963
- Finding: Sign or Symptom
Abnormality of the digestive system
- Constipation
- Abnormality of the endocrine system
- Delayed puberty
Delayed puberty
- MedGen UID: 46203
- Concept ID: C0034012
- Finding: Pathologic Function
Abnormality of the endocrine system
- Increased circulating renin level
Increased circulating renin level
- MedGen UID: 66818
- Concept ID: C0240783
- Finding: Finding
Abnormality of the endocrine system
- Delayed puberty
- Abnormality of the eye
- Blurred vision
Blurred vision
- MedGen UID: 91020
- Concept ID: C0344232
- Finding: Finding
Abnormality of the eye
- Blurred vision
- Abnormality of the genitourinary system
- Enuresis
Enuresis
- MedGen UID: 8649
- Concept ID: C0014394
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Hypocalciuria
Hypocalciuria
- MedGen UID: 9381
- Concept ID: C0020599
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Nocturia
Nocturia
- MedGen UID: 14440
- Concept ID: C0028734
- 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
- Renal magnesium wasting
Renal magnesium wasting
- MedGen UID: 1811452
- Concept ID: C5574944
- Finding: Finding
Abnormality of the genitourinary system
- Renal potassium wasting
Renal potassium wasting
- MedGen UID: 339499
- Concept ID: C1846348
- Finding: Finding
Abnormality of the genitourinary system
- Enuresis
- Abnormality of the musculoskeletal system
- Chondrocalcinosis
Chondrocalcinosis
- MedGen UID: 154303
- Concept ID: C0553730
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Generalized muscle weakness
Generalized muscle weakness
- MedGen UID: 155433
- Concept ID: C0746674
- Finding: Sign or Symptom
Abnormality of the musculoskeletal system
- Muscle spasm
Muscle spasm
- MedGen UID: 52431
- Concept ID: C0037763
- Finding: Sign or Symptom
Abnormality of the musculoskeletal system
- Muscle weakness
Muscle weakness
- MedGen UID: 57735
- Concept ID: C0151786
- Finding: Finding
Abnormality of the musculoskeletal system
- Rhabdomyolysis
Rhabdomyolysis
- MedGen UID: 19775
- Concept ID: C0035410
- Finding: Pathologic Function
Abnormality of the musculoskeletal system
- Tetany
Tetany
- MedGen UID: 11748
- Concept ID: C0039621
- Finding: Finding
Abnormality of the musculoskeletal system
- Chondrocalcinosis
- Abnormality of the nervous system
- Cerebellar ataxia
Cerebellar ataxia
- MedGen UID: 849
- Concept ID: C0007758
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Paralysis
Paralysis
- MedGen UID: 105510
- Concept ID: C0522224
- Finding: Finding
Abnormality of the nervous system
- Paresthesia
Paresthesia
- MedGen UID: 14619
- Concept ID: C0030554
- 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
- Salt craving
Salt craving
- MedGen UID: 116112
- Concept ID: C0240928
- Finding: Finding
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Cerebellar ataxia
- Constitutional symptom
- Abdominal pain
Abdominal pain
- MedGen UID: 7803
- Concept ID: C0000737
- Finding: Sign or Symptom
Constitutional symptom
- Arthralgia
Arthralgia
- MedGen UID: 13917
- Concept ID: C0003862
- Finding: Sign or Symptom
Constitutional symptom
- Fatigue
Fatigue
- MedGen UID: 41971
- Concept ID: C0015672
- Finding: Sign or Symptom
Constitutional symptom
- Abdominal pain
- Ear malformation
- Vertigo
Vertigo
- MedGen UID: 53006
- Concept ID: C0042571
- Finding: Sign or Symptom
Ear malformation
- Vertigo
- Growth abnormality
- Failure to thrive
Failure to thrive
- MedGen UID: 746019
- Concept ID: C2315100
- Finding: Disease or Syndrome
Growth abnormality
- Growth delay
Growth delay
- MedGen UID: 99124
- Concept ID: C0456070
- Finding: Pathologic Function
Growth abnormality
- Failure to thrive
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