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Familial hypokalemic alkalosis, Gullner type

MedGen UID:
78677
Concept ID:
C0268444
Disease or Syndrome
Synonyms: GULLNER SYNDROME; HYPOKALEMIC ALKALOSIS, FAMILIAL, WITH SPECIFIC RENAL TUBULOPATHY
SNOMED CT: Gullner's syndrome (81987005); Familial hypokalemic alkalosis, Gullner type (81987005); Familial hypokalemia (81987005); Gullner syndrome (81987005)
 
Monarch Initiative: MONDO:0009423
OMIM®: 241150

Clinical features

From HPO
Fatigue
MedGen UID:
41971
Concept ID:
C0015672
Sign or Symptom
A subjective feeling of tiredness characterized by a lack of energy and motivation.
Proximal tubulopathy
MedGen UID:
326534
Concept ID:
C1839603
Disease or Syndrome
Dysfunction of the proximal tubule, which is the portion of the duct system of the nephron of the kidney which leads from Bowman's capsule to the loop of Henle.
Nausea
MedGen UID:
10196
Concept ID:
C0027497
Sign or Symptom
A sensation of unease in the stomach together with an urge to vomit.
Vomiting
MedGen UID:
12124
Concept ID:
C0042963
Sign or Symptom
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.
Muscle spasm
MedGen UID:
52431
Concept ID:
C0037763
Sign or Symptom
Sudden and involuntary contractions of one or more muscles.
Hypokalemia
MedGen UID:
5712
Concept ID:
C0020621
Finding
An abnormally decreased potassium concentration in the blood.
Hypokalemic alkalosis
MedGen UID:
43208
Concept ID:
C0085570
Disease or Syndrome
Increased serum prostaglandin E2
MedGen UID:
461708
Concept ID:
C3150358
Finding
An increased concentration of prostaglandin E2 in the blood.
Abnormal magnesium concentration
MedGen UID:
893133
Concept ID:
C4025274
Finding
An abnormality of magnesium ion homeostasis.
Increased circulating renin level
MedGen UID:
66818
Concept ID:
C0240783
Finding
An increased level of renin in the blood.

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