BARTTER SYNDROME, TYPE 4A

General Information (adopted from Orphanet):

Synonyms, Signs: BSND SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, INCLUDED
BARTTER SYNDROME, INFANTILE, WITH SENSORINEURAL DEAFNESS
Number of Symptoms 33
OrphanetNr:
OMIM Id: 602522
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0012605) Hypernatriuria 6 / 7739
2
(HPO:0000127) Renal salt wasting 21 / 7739
3
(HPO:0002914) Hyperchloriduria 7 / 7739
4
(HPO:0000103) Polyuria 60 / 7739
5
(HPO:0004737) Global glomerulosclerosis 3 / 7739
6
(HPO:0012213) Decreased glomerular filtration rate 21 / 7739
7
(HPO:0003774) Stage 5 chronic kidney disease 78 / 7739
8
(HPO:0003081) Increased urinary potassium 7 / 7739
9
(HPO:0005565) Reduced renal corticomedullary differentiation 5 / 7739
10
(HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
11
(HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
12
(HPO:0000407) Sensorineural hearing impairment 524 / 7739
13
(HPO:0001270) Motor delay 322 / 7739
14
(HPO:0001249) Intellectual disability 1089 / 7739
15
(HPO:0001265) Hyporeflexia 208 / 7739
16
(HPO:0000859) Hyperaldosteronism 17 / 7739
17
(HPO:0001563) Fetal polyuria 6 / 7739
18
(HPO:0001561) Polyhydramnios 191 / 7739
19
(HPO:0001508) Failure to thrive 454 / 7739
20
(HPO:0002900) Hypokalemia 45 / 7739
21
(HPO:0003113) Hypochloremia 7 / 7739
22
(HPO:0002902) Hyponatremia 37 / 7739
23
(HPO:0004909) Hypokalemic hypochloremic metabolic alkalosis 3 / 7739
24
(HPO:0010547) Muscle flaccidity 466 / 7739
25
(HPO:0001324) Muscle weakness 859 / 7739
26
(HPO:0001252) Muscular hypotonia 990 / 7739
27
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
28
(OMIM) Ultrasound shows hyperechoic kidneys 1 / 7739
29
(OMIM) Fetal hydrops 15 / 7739
30
(OMIM) Urinary prostaglandin E 2 / 7739
31
(OMIM) Inability to concentrate urine 2 / 7739
32
(OMIM) Renal biopsy shows tubulointerstitial fibrosis 1 / 7739
33
(OMIM) Stimulation of the renin/angiotensin/aldosterone axis 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Bartter syndrome (see 607364) is an autosomal recessive disorder defined by hypokalemic metabolic alkalosis (Bartter et al., 1962). Affected individuals also have elevated plasma renin activity and hyperaldosteronism, with normal blood pressure, altered prostaglandin metabolism (with increased levels ...
Molecular genetics OMIM Birkenhager et al. (2001) identified 7 different mutations in the BSND gene (606412.0001-606412.0007) in 10 families with Bartter syndrome with sensorineural deafness. To clone the BSND gene, Birkenhager et al. (2001) generated combined YAC/BAC contigs spanning the 4-cM ...