BARTTER SYNDROME, ANTENATAL, TYPE 1

General Information (adopted from Orphanet):

Synonyms, Signs: HYPERPROSTAGLANDIN E SYNDROME 1
HYPOKALEMIC ALKALOSIS WITH HYPERCALCIURIA, ANTENATAL, 1
Number of Symptoms 43
OrphanetNr:
OMIM Id: 601678
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002150) Hypercalciuria 45 / 7739
2
(HPO:0000127) Renal salt wasting 21 / 7739
3
(HPO:0003081) Increased urinary potassium 7 / 7739
4
(HPO:0000128) Renal potassium wasting 6 / 7739
5
(HPO:0000103) Polyuria 60 / 7739
6
(HPO:0000111) Renal juxtaglomerular cell hypertrophy/hyperplasia 3 / 7739
7
(HPO:0000121) Nephrocalcinosis 57 / 7739
8
(HPO:0002914) Hyperchloriduria 7 / 7739
9
(HPO:0003158) Hyposthenuria 6 / 7739
10
(HPO:0001263) Global developmental delay 853 / 7739
11
(HPO:0001249) Intellectual disability 1089 / 7739
12
(HPO:0001250) Seizures 1245 / 7739
13
(HPO:0003401) Paresthesia 42 / 7739
14
(HPO:0000859) Hyperaldosteronism 17 / 7739
15
(HPO:0000848) Increased circulating renin level 14 / 7739
16
(HPO:0000841) Hyperactive renin-angiotensin system 7 / 7739
17
(HPO:0000934) Chondrocalcinosis 13 / 7739
18
(HPO:0000938) Osteopenia 138 / 7739
19
(HPO:0001622) Premature birth 100 / 7739
20
(HPO:0001561) Polyhydramnios 191 / 7739
21
(HPO:0001563) Fetal polyuria 6 / 7739
22
(HPO:0002013) Vomiting 191 / 7739
23
(HPO:0002014) Diarrhea 225 / 7739
24
(HPO:0002019) Constipation 194 / 7739
25
(HPO:0001518) Small for gestational age 107 / 7739
26
(HPO:0001508) Failure to thrive 454 / 7739
27
(HPO:0004322) Short stature 1232 / 7739
28
(HPO:0002632) Low-to-normal blood pressure 3 / 7739
29
(HPO:0003527) Hyperprostaglandinuria 3 / 7739
30
(HPO:0003566) Increased serum prostaglandin E2 4 / 7739
31
(HPO:0001944) Dehydration 59 / 7739
32
(HPO:0002917) Hypomagnesemia 19 / 7739
33
(HPO:0003113) Hypochloremia 7 / 7739
34
(HPO:0001960) Hypokalemic metabolic alkalosis 5 / 7739
35
(HPO:0002900) Hypokalemia 45 / 7739
36
(HPO:0001945) Fever 218 / 7739
37
(HPO:0003324) Generalized muscle weakness 48 / 7739
38
(HPO:0003394) Muscle cramps 106 / 7739
39
(HPO:0001281) Tetany 20 / 7739
40
(OMIM) Occasional hypomagnesemia 2 / 7739
41
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
42
(OMIM) Increased chloride levels 1 / 7739
43
(OMIM) Increased plasma aldosterone 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM The antenatal form of Bartter syndrome is a life-threatening disorder in which both renal tubular hypokalemic alkalosis and profound systemic symptoms are manifest (Seyberth et al., 1985; Deschenes et al., 1993; and Proesmans et al., 1985). The abnormalities ...
Molecular genetics OMIM In 5 families with antenatal Bartter syndrome, Simon et al. (1996) identified frameshift or nonconservative missense mutations in the NKCC2 gene that cosegregated with the disease (see 600839.0001-600839.0003).

In 9 patients from 7 Costa Rican families ...