Bartter syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Hypokalemic alkalosis - hypercalciuria
Number of Symptoms 50
OrphanetNr: 112
OMIM Id: 241200
601198
601678
602522
607364
613090
ICD-10: E26.8
UMLs: C0004775
MeSH: D001477
MedDRA: 10050839
Snomed: 71275003

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic renal tubular disease
 -Rare genetic disease
Rare renal tubular disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
 (HPO:0000111) Renal juxtaglomerular cell hypertrophy/hyperplasia 3 / 7739
2
 (HPO:0003158) Hyposthenuria 6 / 7739
3
 (HPO:0002150) Hypercalciuria 45 / 7739
4
 (HPO:0003081) Increased urinary potassium 7 / 7739
5
 (HPO:0000121) Nephrocalcinosis 57 / 7739
6
 (HPO:0002914) Hyperchloriduria 7 / 7739
7
 (HPO:0000127) Renal salt wasting 21 / 7739
8
 (HPO:0000103) Polyuria 60 / 7739
9
 (HPO:0000128) Renal potassium wasting 6 / 7739
10
 (HPO:0011037) Decreased urine output Very frequent [Orphanet] 47 / 7739
11
 (HPO:0000325) Triangular face 91 / 7739
12
 (HPO:0011220) Prominent forehead 137 / 7739
13
 (HPO:0002007) Frontal bossing 366 / 7739
14
 (HPO:0001090) Large eyes 20 / 7739
15
 (HPO:0000256) Macrocephaly 298 / 7739
16
 (HPO:0000400) Macrotia 108 / 7739
17
 (HPO:0001250) Seizures 1245 / 7739
18
 (HPO:0003401) Paresthesia 42 / 7739
19
 (HPO:0001249) Intellectual disability 1089 / 7739
20
 (HPO:0001263) Global developmental delay 853 / 7739
21
 (HPO:0001959) Polydipsia 43 / 7739
22
 (HPO:0000859) Hyperaldosteronism 17 / 7739
23
 (HPO:0000848) Increased circulating renin level 14 / 7739
24
 (HPO:0000841) Hyperactive renin-angiotensin system 7 / 7739
25
 (HPO:0000934) Chondrocalcinosis 13 / 7739
26
 (HPO:0000938) Osteopenia 138 / 7739
27
 (HPO:0001622) Premature birth 100 / 7739
28
 (HPO:0001563) Fetal polyuria 6 / 7739
29
 (HPO:0001561) Polyhydramnios 191 / 7739
30
 (HPO:0002019) Constipation 194 / 7739
31
 (HPO:0002013) Vomiting 191 / 7739
32
 (HPO:0002014) Diarrhea 225 / 7739
33
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
34
 (HPO:0001508) Failure to thrive 454 / 7739
35
 (HPO:0001518) Small for gestational age 107 / 7739
36
 (HPO:0002632) Low-to-normal blood pressure 3 / 7739
37
 (HPO:0003540) Impaired platelet aggregation 17 / 7739
38
 (HPO:0001944) Dehydration 59 / 7739
39
 (HPO:0002917) Hypomagnesemia Occasional [HPO:skoehler] 19 / 7739
40
 (HPO:0001960) Hypokalemic metabolic alkalosis 5 / 7739
41
 (HPO:0001939) Abnormality of metabolism/homeostasis Very frequent [Orphanet] 328 / 7739
42
 (HPO:0001945) Fever 218 / 7739
43
 (HPO:0002900) Hypokalemia 45 / 7739
44
 (HPO:0003566) Increased serum prostaglandin E2 4 / 7739
45
 (HPO:0003113) Hypochloremia 7 / 7739
46
 (HPO:0003527) Hyperprostaglandinuria 3 / 7739
47
 (HPO:0003324) Generalized muscle weakness 48 / 7739
48
 (HPO:0003394) Muscle cramps 106 / 7739
49
 (HPO:0001281) Tetany 20 / 7739
50
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: