Classic Bartter syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: BARTTER SYNDROME, CLASSIC BARTTER SYNDROME, TYPE 3, WITH HYPOCALCIURIA, INCLUDED
Bartter syndrome type 3
Adult Bartter syndrome
Number of Symptoms 26
OrphanetNr: 93605
OMIM Id: 607364
ICD-10: E26.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Infancy
Childhood
Adolescent
Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Bartter syndrome
 -Rare genetic disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
(HPO:0003127) Hypocalciuria Occasional [HPO:probinson] 7 / 7739
2
(HPO:0000127) Renal salt wasting 21 / 7739
3
(HPO:0003081) Increased urinary potassium 7 / 7739
4
(HPO:0005579) Impaired reabsorption of chloride 1 / 7739
5
(HPO:0000128) Renal potassium wasting 6 / 7739
6
(HPO:0002914) Hyperchloriduria 7 / 7739
7
(HPO:0000103) Polyuria 60 / 7739
8
(HPO:0000610) Abnormality of the choroid 11 / 7739
9
(HPO:0008046) Abnormality of the retinal vasculature 41 / 7739
10
(HPO:0000591) Abnormality of the sclera 3 / 7739
11
(HPO:0000841) Hyperactive renin-angiotensin system 7 / 7739
12
(HPO:0000859) Hyperaldosteronism 17 / 7739
13
(HPO:0000848) Increased circulating renin level 14 / 7739
14
(HPO:0002615) Hypotension 52 / 7739
15
(HPO:0001944) Dehydration 59 / 7739
16
(HPO:0002900) Hypokalemia 45 / 7739
17
(HPO:0001960) Hypokalemic metabolic alkalosis 5 / 7739
18
(HPO:0003324) Generalized muscle weakness 48 / 7739
19
(OMIM) Nephrocalcinosis is absent 1 / 7739
20
(OMIM) Increased serum bicarbonate 2 / 7739
21
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
22
(OMIM) Multifocal yellow-white geographic, solid, choriodal lesions along the retinal vascular arcades 1 / 7739
23
(OMIM) B-scan ultrasound shows echogenic, placoid calcified lesions at the level of the sclera and choroid 1 / 7739
24
(OMIM) Optical coherence tomography shows normal retina and retinal pigment epithelium overlying the sclerochoroidal lesions 1 / 7739
25
(OMIM) Hypocalciuria or normocalciuria 1 / 7739
26
(OMIM) Increased plasma aldosterone 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results ...
Clinical Description OMIM Bartter syndrome (Bartter et al., 1962) is an unusual form of secondary hyperaldosteronism in which hypertrophy and hyperplasia of the juxtaglomerular cells are associated with normal blood pressure and hypokalemic alkalosis in the absence of edema. The primary ...
Molecular genetics OMIM In affected members of 10 kindreds with Bartter syndrome type 3 (607364), Simon et al. (1997) found homozygous deletion of the CLCNKB gene (602023). Two kindreds showed homozygous loss of part of CLCNKB. They also demonstrated 7 mutations ...
Population genetics OMIM Hall (1971) reported that over three-fourths of families with Bartter syndrome in the United States are black.