BARTTER SYNDROME, TYPE 4B

General Information (adopted from Orphanet):

Synonyms, Signs: BARTTER SYNDROME, INFANTILE, WITH SENSORINEURAL DEAFNESS
Number of Symptoms 34
OrphanetNr:
OMIM Id: 613090
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
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:0000127) Renal salt wasting 21 / 7739
2
 (HPO:0002914) Hyperchloriduria 7 / 7739
3
 (HPO:0012213) Decreased glomerular filtration rate 21 / 7739
4
 (HPO:0003081) Increased urinary potassium 7 / 7739
5
 (HPO:0000103) Polyuria 60 / 7739
6
 (HPO:0003774) Stage 5 chronic kidney disease 78 / 7739
7
 (HPO:0000083) Renal insufficiency 232 / 7739
8
 (HPO:0012605) Hypernatriuria 6 / 7739
9
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
10
 (HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
11
 (HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
12
 (HPO:0001265) Hyporeflexia 208 / 7739
13
 (HPO:0001270) Motor delay 322 / 7739
14
 (HPO:0001249) Intellectual disability 1089 / 7739
15
 (HPO:0000859) Hyperaldosteronism 17 / 7739
16
 (HPO:0001563) Fetal polyuria 6 / 7739
17
 (HPO:0001561) Polyhydramnios 191 / 7739
18
 (HPO:0001622) Premature birth 100 / 7739
19
 (HPO:0001508) Failure to thrive 454 / 7739
20
 (HPO:0000969) Edema 117 / 7739
21
 (HPO:0004909) Hypokalemic hypochloremic metabolic alkalosis 3 / 7739
22
 (HPO:0003113) Hypochloremia 7 / 7739
23
 (HPO:0002902) Hyponatremia 37 / 7739
24
 (HPO:0002900) Hypokalemia 45 / 7739
25
 (HPO:0010547) Muscle flaccidity 466 / 7739
26
 (HPO:0001324) Muscle weakness 859 / 7739
27
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
28
 (HPO:0001252) Muscular hypotonia 990 / 7739
29
 (OMIM) Urinary prostaglandin E 2 / 7739
30
 (OMIM) Fetal hydrops 15 / 7739
31
 (HPO:0003577) Congenital onset 133 / 7739
32
 (HPO:0001425) Heterogeneous 132 / 7739
33
 (OMIM) Stimulation of the renin/angiotensin/aldosterone axis 2 / 7739
34
 (OMIM) Inability to concentrate urine 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Molecular genetics OMIM In a child with renal salt wasting and deafness who had no mutation in the BSND gene (606412), Schlingmann et al. (2004) identified both a homozygous deletion of the CLCNKB gene (602023.0008) and a homozygous trp80-to-cys mutation in ...