BARTS4A
MCID: BRT053
MIFTS: 45

Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness (BARTS4A)

Categories: Ear diseases, Genetic diseases, Metabolic diseases, Nephrological diseases

Aliases & Classifications for Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness

MalaCards integrated aliases for Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness:

Name: Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness 57
Sensorineural Deafness with Mild Renal Dysfunction 57 72 29 6
Bartter Disease Type 4a 12 29 6 15
Bartter Syndrome, Type 4a 57 13 70
Barts4a 57 12 72
Bsnd 57 12 72
Bartter Syndrome, Neonatal, with Sensorineural Deafness 57 72
Bartter Syndrome, Neonatal, with Sensorineural Deafness; Bsnd 57
Bartter Syndrome 4a, Neonatal, with Sensorineural Deafness 72
Infantile Bartter Syndrome with Sensorineural Deafness 72
Neonatal Bartter Syndrome with Sensorineural Deafness 12
Hypokalemic Alkalosis with Hypercalciuria Antenatal 4 72
Hyperprostanglandin E Syndrome 4 72
Syndrome, Bartter, Type 4a 39
Bartter Syndrome Type 4a 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity
onset in utero
severe volume depletion
see also antenatal bartter syndrome type 1 , bartter syndrome type 2 , bartter syndrome 3 , and bartter syndrome 4b digenic


HPO:

31
bartter syndrome, type 4a, neonatal, with sensorineural deafness:
Inheritance autosomal recessive inheritance heterogeneous
Onset and clinical course congenital onset


Classifications:



Summaries for Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness

OMIM® : 57 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 from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997). Patients with antenatal (or neonatal) forms of Bartter syndrome typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome (see BARTS3, 607364) present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012). For a discussion of genetic heterogeneity of Bartter syndrome, see 607364. (602522) (Updated 20-May-2021)

MalaCards based summary : Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness, also known as sensorineural deafness with mild renal dysfunction, is related to bartter syndrome, type 3 and infantile bartter syndrome with sensorineural deafness, and has symptoms including polyuria An important gene associated with Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness is BSND (Barttin CLCNK Type Accessory Subunit Beta), and among its related pathways/superpathways are Ion channel transport and Hepatic ABC Transporters. Affiliated tissues include kidney, spinal cord and salivary gland, and related phenotypes are intellectual disability and failure to thrive

Disease Ontology : 12 A Bartter disease that has material basis in homozygous or compound heterozygous mutation in the BSND gene on chromosome 1p32.

UniProtKB/Swiss-Prot : 72 Bartter syndrome 4A, neonatal, with sensorineural deafness: A form of Bartter syndrome, an autosomal recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. BARTS4A is associated with sensorineural deafness.

Related Diseases for Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness

Diseases in the Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness family:

Bartter Syndrome, Type 4b, Neonatal, with Sensorineural Deafness

Diseases related to Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 54)
# Related Disease Score Top Affiliating Genes
1 bartter syndrome, type 3 31.6 KCNJ1 CLCNKB BSND
2 infantile bartter syndrome with sensorineural deafness 31.4 CLCNKB BSND
3 antenatal bartter syndrome 31.4 KCNJ1 BSND
4 hypomagnesemia 5, renal, with or without ocular involvement 31.4 KCNJ1 BSND
5 hypocalcemia, autosomal dominant 1 31.3 CLCNKB BSND
6 gitelman syndrome 31.3 KCNJ1 CLCNKB BSND
7 nephrolithiasis 31.3 KCNJ1 CLCNKB BSND
8 polyhydramnios 31.1 KCNJ1 CLCNKB BSND
9 seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance 31.1 KCNJ1 CLCNKB BSND
10 hypokalemia 31.1 KCNJ18 KCNJ1 CLCNKB BSND
11 renal tubular transport disease 31.1 KCNJ1 CLCNKB BSND
12 dent disease 1 31.1 KCNJ1 CLCNKB BSND
13 liddle syndrome 1 31.1 KCNJ1 CLCNKB BSND
14 diabetes insipidus, nephrogenic, autosomal 31.0 KCNJ1 CLCNKB BSND
15 bartter disease 30.7 OSTM1 KCNJ18 KCNJ1 CLCNKB BSND
16 bartter syndrome type 4 11.3
17 autosomal recessive nonsyndromic deafness 11.1
18 sensorineural hearing loss 11.0
19 deafness, autosomal recessive 11.0
20 bartter syndrome, type 4b, neonatal, with sensorineural deafness 11.0
21 orofaciodigital syndrome x 10.8
22 deafness, autosomal dominant 2a 10.8
23 valproate embryopathy 10.8
24 auditory system disease 10.8
25 inner ear disease 10.8
26 hereditary hearing loss and deafness 10.8
27 autosomal dominant non-syndromic sensorineural deafness type dfna 10.8
28 autosomal recessive non-syndromic sensorineural deafness type dfnb 10.8
29 branchiootic syndrome 1 10.3
30 arthrogryposis, distal, type 3 10.0 KCNJ1 CLCNKB
31 mineral metabolism disease 10.0 KCNJ1 CLCNKB
32 oncocytoma 10.0
33 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
34 chromophobe renal cell carcinoma 10.0
35 kidney disease 10.0
36 renal oncocytoma 10.0
37 nephrocalcinosis 9.9 KCNJ1 CLCNKB
38 hypokalemic periodic paralysis, type 1 9.9 KCNJ18 KCNJ1
39 hypercalciuria, absorptive, 2 9.8
40 renal cell carcinoma, nonpapillary 9.8
41 hypertension, essential 9.8
42 autosomal recessive disease 9.8
43 adenoid cystic carcinoma 9.8
44 acinar cell carcinoma 9.8
45 pleomorphic adenoma 9.8
46 mucoepidermoid carcinoma 9.8
47 end stage renal disease 9.8
48 nonsyndromic deafness 9.8
49 nonsyndromic hearing loss 9.8
50 benign neonatal seizures 9.8 KCNT1 CHRNA2

Graphical network of the top 20 diseases related to Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness:



Diseases related to Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness

Symptoms & Phenotypes for Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness

Human phenotypes related to Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness:

31 (show all 27)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 failure to thrive 31 HP:0001508
3 sensorineural hearing impairment 31 HP:0000407
4 hypokalemia 31 HP:0002900
5 renal insufficiency 31 HP:0000083
6 hydrops fetalis 31 HP:0001789
7 motor delay 31 HP:0001270
8 polyhydramnios 31 HP:0001561
9 hyperaldosteronism 31 HP:0000859
10 hyponatremia 31 HP:0002902
11 hyporeflexia 31 HP:0001265
12 premature birth 31 HP:0001622
13 generalized hypotonia 31 HP:0001290
14 edema 31 HP:0000969
15 fetal polyuria 31 HP:0001563
16 renal salt wasting 31 HP:0000127
17 hypernatriuria 31 HP:0012605
18 tubulointerstitial fibrosis 31 HP:0005576
19 increased urinary potassium 31 HP:0003081
20 decreased glomerular filtration rate 31 HP:0012213
21 hypochloremia 31 HP:0003113
22 reduced renal corticomedullary differentiation 31 HP:0005565
23 polyuria 31 HP:0000103
24 hypotonia 31 HP:0001252
25 hyperchloriduria 31 HP:0002914
26 global glomerulosclerosis 31 HP:0004737
27 hypokalemic hypochloremic metabolic alkalosis 31 HP:0004909

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Growth Other:
failure to thrive

Prenatal Manifestations Amniotic Fluid:
polyhydramnios
fetal polyuria
fetal hydrops

Neurologic Central Nervous System:
hyporeflexia
delayed motor development
mental retardation
motor retardation

Muscle Soft Tissue:
hypotonia

Prenatal Manifestations Delivery:
premature delivery

Laboratory Abnormalities:
hypokalemia
hyponatremia
increased urinary potassium
hypochloremia
increased urinary chloride
more
Endocrine Features:
hyperaldosteronism
stimulation of the renin/angiotensin/aldosterone axis

Genitourinary Kidneys:
renal salt wasting
decreased glomerular filtration rate
polyuria
global glomerulosclerosis
inability to concentrate urine
more
Metabolic Features:
hypokalemic hypochloremic metabolic alkalosis

Head And Neck Ears:
deafness, sensorineural

Clinical features from OMIM®:

602522 (Updated 20-May-2021)

UMLS symptoms related to Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness:


polyuria

Drugs & Therapeutics for Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness

Search Clinical Trials , NIH Clinical Center for Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness

Genetic Tests for Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness

Genetic tests related to Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness:

# Genetic test Affiliating Genes
1 Bartter Disease Type 4a 29 BSND
2 Sensorineural Deafness with Mild Renal Dysfunction 29

Anatomical Context for Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness

MalaCards organs/tissues related to Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness:

40
Kidney, Spinal Cord, Salivary Gland

Publications for Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness

Articles related to Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness:

(show top 50) (show all 78)
# Title Authors PMID Year
1
Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome. 61 6 57
19646679 2009
2
Atypical Bartter syndrome with sensorineural deafness with G47R mutation of the beta-subunit for ClC-Ka and ClC-Kb chloride channels, barttin. 57 61 6
12574213 2003
3
Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. 57 6 61
11687798 2001
4
Linkage of infantile Bartter syndrome with sensorineural deafness to chromosome 1p. 6 57
9463315 1998
5
Renal dysfunction and barttin expression in Bartter syndrome Type IV associated with a G47R mutation in BSND in a family. 6 61
21269598 2011
6
Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome. 61 6
19096086 2009
7
Disease-causing dysfunctions of barttin in Bartter syndrome type IV. 61 6
18776122 2009
8
Unusual adult-onset manifestation of an attenuated Bartter's syndrome type IV renal phenotype caused by a mutation in BSND. 61 6
16935888 2007
9
Type IV Bartter syndrome: report of two new cases. 6 61
16583241 2006
10
Mutation G47R in the BSND gene causes Bartter syndrome with deafness in two Spanish families. 61 6
16572343 2006
11
A compound heterozygous mutation in the BSND gene detected in Bartter syndrome type IV. 61 6
16328537 2006
12
The neonatal variant of Bartter syndrome and deafness: preservation of renal function. 61 57
12949294 2003
13
Adult presentation of Bartter syndrome type IV with erythrocytosis. 6
26537508 2015
14
Phosphate homeostasis in Bartter syndrome: a case-control study. 6
24902942 2014
15
Understanding Bartter syndrome and Gitelman syndrome. 57
22282380 2012
16
Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion. 6
11734858 2001
17
Hypokalemic salt-losing tubulopathy with chronic renal failure and sensorineural deafness. 57
11433084 2001
18
Antenatal Bartter syndrome with sensorineural deafness: refinement of the locus on chromosome 1p31. 57
10862633 2000
19
Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. 57
9326936 1997
20
Bartter syndrome in Costa Rica: a description of 20 cases. 57
9203176 1997
21
Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK. 57
8841184 1996
22
Infantile variant of Bartter syndrome and sensorineural deafness: a new autosomal recessive disorder. 57
8585565 1995
23
Congenital hypokalemia with hypercalciuria in preterm infants: a hyperprostaglandinuric tubular syndrome different from Bartter syndrome. 57
3863906 1985
24
Genetic diversity and population structure of Tibetan sheep breeds determined by whole genome resequencing. 61
33611716 2021
25
Clinical utility of next-generation sequencing in the aetiological diagnosis of sensorineural hearing loss in a Childhood Hearing Loss Unit. 61
31706454 2020
26
Hypokalemia and hearing loss in a 3-year-old boy: Questions. 61
31667618 2020
27
Functional Study of Novel Bartter's Syndrome Mutations in ClC-Kb and Rescue by the Accessory Subunit Barttin Toward Personalized Medicine. 61
32256370 2020
28
Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome. 61
31879347 2020
29
Clinical importance of potassium intake and molecular mechanism of potassium regulation. 61
31317362 2019
30
Tacrolimus ameliorates the phenotypes of type 4 Bartter syndrome model mice through activation of sodium-potassium-2 chloride cotransporter and sodium-chloride cotransporter. 61
31362893 2019
31
Role of zebrafish ClC-K/barttin channels in apical kidney chloride reabsorption. 61
31177533 2019
32
A novel compound heterozygous KCNJ1 gene mutation presenting as late-onset Bartter syndrome: Case report. 61
31441846 2019
33
[Genetic analysis of a pedigree affected with Bartter's syndrome]. 61
31302915 2019
34
Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis. 61
30760291 2019
35
Reconstitution and NMR Characterization of the Ion-Channel Accessory Subunit Barttin in Detergents and Lipid-Bilayer Nanodiscs. 61
30931313 2019
36
Two novel homozygous missense mutations identified in the BSND gene in Moroccan patients with Bartter's syndrome. 61
30174009 2018
37
Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients. 61
29986705 2018
38
Clinical and diagnostic features of Bartter and Gitelman syndromes. 61
29942493 2018
39
BSND is a Novel Immunohistochemical Marker for Oncocytic Salivary Gland Tumors. 61
28470573 2018
40
Role of ClC-K and barttin in low potassium-induced sodium chloride cotransporter activation and hypertension in mouse kidney. 61
29326302 2018
41
Ultrasound findings provide clues to investigate founder mutations expressed as runs of homozygosity in chromosomal microarray studies. 61
29327352 2018
42
Mutation spectrum of Chinese patients with Bartter syndrome. 61
29254190 2017
43
Genetic causes of hypomagnesemia, a clinical overview. 61
27234911 2017
44
Pharmacovigilance database search discloses ClC-K channels as a novel target of the AT1 receptor blockers valsartan and olmesartan. 61
28334417 2017
45
Reduced Membrane Insertion of CLC-K by V33L Barttin Results in Loss of Hearing, but Leaves Kidney Function Intact. 61
28555110 2017
46
Digenic mutations involving both the BSND and GJB2 genes detected in Bartter syndrome type IV. 61
28012523 2017
47
Molecular bases of K+ secretory cells in the inner ear: shared and distinct features between birds and mammals. 61
27680950 2016
48
BSND and ATP6V1G3: Novel Immunohistochemical Markers for Chromophobe Renal Cell Carcinoma. 61
26091477 2015
49
Severe manifestation of Bartter syndrome Type IV caused by a novel insertion mutation in the BSND gene. 61
23110775 2014
50
Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families. 61
24949729 2014

Variations for Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness

ClinVar genetic disease variations for Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness:

6 (show top 50) (show all 56)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BSND NM_057176.3(BSND):c.1A>T (p.Met1Leu) SNV Pathogenic 4380 rs74315284 GRCh37: 1:55464860-55464860
GRCh38: 1:54999187-54999187
2 BSND NM_057176.3(BSND):c.22C>T (p.Arg8Trp) SNV Pathogenic 4381 rs74315285 GRCh37: 1:55464881-55464881
GRCh38: 1:54999208-54999208
3 BSND BSND, IVS1, 41-BP DEL Deletion Pathogenic 4382 GRCh37:
GRCh38:
4 BSND BSND, EX3-EX4 DEL Deletion Pathogenic 4383 GRCh37:
GRCh38:
5 BSND NM_057176.3(BSND):c.28G>A (p.Gly10Ser) SNV Pathogenic 4385 rs74315287 GRCh37: 1:55464887-55464887
GRCh38: 1:54999214-54999214
6 BSND NM_057176.3(BSND):c.23G>T (p.Arg8Leu) SNV Pathogenic 4386 rs74315288 GRCh37: 1:55464882-55464882
GRCh38: 1:54999209-54999209
7 BSND NM_057176.3(BSND):c.35T>C (p.Ile12Thr) SNV Pathogenic 4388 rs121908144 GRCh37: 1:55464894-55464894
GRCh38: 1:54999221-54999221
8 BSND NM_057176.3(BSND):c.452del (p.Pro151fs) Deletion Pathogenic 590851 rs765135576 GRCh37: 1:55472847-55472847
GRCh38: 1:55007174-55007174
9 BSND NM_057176.3(BSND):c.139G>A (p.Gly47Arg) SNV Pathogenic 4387 rs74315289 GRCh37: 1:55464998-55464998
GRCh38: 1:54999325-54999325
10 BSND NM_057176.3(BSND):c.10G>T (p.Glu4Ter) SNV Pathogenic 4389 rs121908145 GRCh37: 1:55464869-55464869
GRCh38: 1:54999196-54999196
11 BSND NM_057176.3(BSND):c.715C>T (p.Gln239Ter) SNV Pathogenic 595950 rs147394986 GRCh37: 1:55474053-55474053
GRCh38: 1:55008380-55008380
12 BSND NM_057176.3(BSND):c.3G>A (p.Met1Ile) SNV Pathogenic/Likely pathogenic 4384 rs74315286 GRCh37: 1:55464862-55464862
GRCh38: 1:54999189-54999189
13 BSND NM_057176.3(BSND):c.216C>A (p.Ile72=) SNV Uncertain significance 297677 rs755897497 GRCh37: 1:55470733-55470733
GRCh38: 1:55005060-55005060
14 BSND NM_057176.3(BSND):c.-175C>T SNV Uncertain significance 297671 rs886046422 GRCh37: 1:55464685-55464685
GRCh38: 1:54999012-54999012
15 BSND NM_057176.3(BSND):c.696G>A (p.Arg232=) SNV Uncertain significance 297679 rs886046424 GRCh37: 1:55474034-55474034
GRCh38: 1:55008361-55008361
16 BSND NM_057176.3(BSND):c.713T>A (p.Phe238Tyr) SNV Uncertain significance 297680 rs752564097 GRCh37: 1:55474051-55474051
GRCh38: 1:55008378-55008378
17 BSND NM_057176.3(BSND):c.309G>C (p.Glu103Asp) SNV Uncertain significance 227191 rs200246335 GRCh37: 1:55472706-55472706
GRCh38: 1:55007033-55007033
18 BSND NM_057176.3(BSND):c.64G>A (p.Gly22Ser) SNV Uncertain significance 1064565 GRCh37: 1:55464923-55464923
GRCh38: 1:54999250-54999250
19 BSND NM_057176.3(BSND):c.-34G>A SNV Uncertain significance 297675 rs768683733 GRCh37: 1:55464826-55464826
GRCh38: 1:54999153-54999153
20 BSND NM_057176.3(BSND):c.102C>T (p.Tyr34=) SNV Uncertain significance 227188 rs141403253 GRCh37: 1:55464961-55464961
GRCh38: 1:54999288-54999288
21 BSND NM_057176.3(BSND):c.604G>A (p.Asp202Asn) SNV Uncertain significance 297678 rs886046423 GRCh37: 1:55473942-55473942
GRCh38: 1:55008269-55008269
22 BSND NM_057176.3(BSND):c.402del (p.Glu135fs) Deletion Uncertain significance 631609 rs1281690580 GRCh37: 1:55472799-55472799
GRCh38: 1:55007126-55007126
23 BSND NM_057176.3(BSND):c.859G>T (p.Glu287Ter) SNV Uncertain significance 505171 rs376784896 GRCh37: 1:55474197-55474197
GRCh38: 1:55008524-55008524
24 BSND NM_057176.3(BSND):c.52C>G (p.Leu18Val) SNV Uncertain significance 634810 rs754403589 GRCh37: 1:55464911-55464911
GRCh38: 1:54999238-54999238
25 BSND NM_057176.3(BSND):c.35T>C (p.Ile12Thr) SNV Uncertain significance 4388 rs121908144 GRCh37: 1:55464894-55464894
GRCh38: 1:54999221-54999221
26 BSND NM_057176.3(BSND):c.635A>G (p.Asn212Ser) SNV Uncertain significance 875268 GRCh37: 1:55473973-55473973
GRCh38: 1:55008300-55008300
27 BSND NM_057176.3(BSND):c.758C>T (p.Pro253Leu) SNV Uncertain significance 875269 GRCh37: 1:55474096-55474096
GRCh38: 1:55008423-55008423
28 BSND NM_057176.3(BSND):c.917T>C (p.Leu306Pro) SNV Uncertain significance 46552 rs139049536 GRCh37: 1:55474255-55474255
GRCh38: 1:55008582-55008582
29 BSND NM_057176.3(BSND):c.*6T>C SNV Uncertain significance 875270 GRCh37: 1:55474307-55474307
GRCh38: 1:55008634-55008634
30 BSND NM_057176.3(BSND):c.*15G>A SNV Uncertain significance 875271 GRCh37: 1:55474316-55474316
GRCh38: 1:55008643-55008643
31 BSND NM_057176.3(BSND):c.10G>A (p.Glu4Lys) SNV Uncertain significance 667197 rs121908145 GRCh37: 1:55464869-55464869
GRCh38: 1:54999196-54999196
32 BSND NM_057176.3(BSND):c.16A>G (p.Thr6Ala) SNV Uncertain significance 290808 rs201342416 GRCh37: 1:55464875-55464875
GRCh38: 1:54999202-54999202
33 BSND NM_057176.3(BSND):c.*56T>C SNV Uncertain significance 876227 GRCh37: 1:55474357-55474357
GRCh38: 1:55008684-55008684
34 BSND NM_057176.3(BSND):c.64G>C (p.Gly22Arg) SNV Uncertain significance 992426 GRCh37: 1:55464923-55464923
GRCh38: 1:54999250-54999250
35 BSND NM_057176.3(BSND):c.482C>T (p.Ala161Val) SNV Uncertain significance 228463 rs369618892 GRCh37: 1:55472879-55472879
GRCh38: 1:55007206-55007206
36 BSND NM_057176.3(BSND):c.294T>C (p.Tyr98=) SNV Uncertain significance 876317 GRCh37: 1:55472691-55472691
GRCh38: 1:55007018-55007018
37 BSND NM_057176.3(BSND):c.261C>T (p.Ala87=) SNV Uncertain significance 876316 GRCh37: 1:55470778-55470778
GRCh38: 1:55005105-55005105
38 BSND NM_057176.3(BSND):c.457G>A (p.Asp153Asn) SNV Uncertain significance 178291 rs202128855 GRCh37: 1:55472854-55472854
GRCh38: 1:55007181-55007181
39 BSND NM_057176.3(BSND):c.393G>T (p.Leu131Phe) SNV Uncertain significance 874344 GRCh37: 1:55472790-55472790
GRCh38: 1:55007117-55007117
40 BSND NM_057176.3(BSND):c.306G>T (p.Trp102Cys) SNV Uncertain significance 874343 GRCh37: 1:55472703-55472703
GRCh38: 1:55007030-55007030
41 BSND NM_057176.3(BSND):c.893G>A (p.Gly298Glu) SNV Uncertain significance 225307 rs180858237 GRCh37: 1:55474231-55474231
GRCh38: 1:55008558-55008558
42 BSND NM_057176.3(BSND):c.547G>A (p.Gly183Ser) SNV Uncertain significance 740286 rs750027126 GRCh37: 1:55472944-55472944
GRCh38: 1:55007271-55007271
43 BSND NM_057176.3(BSND):c.459C>T (p.Asp153=) SNV Likely benign 226465 rs138974602 GRCh37: 1:55472856-55472856
GRCh38: 1:55007183-55007183
44 BSND NM_057176.3(BSND):c.189C>T (p.Val63=) SNV Likely benign 46549 rs144505461 GRCh37: 1:55470706-55470706
GRCh38: 1:55005033-55005033
45 BSND NM_057176.3(BSND):c.924G>A (p.Pro308=) SNV Benign 46553 rs33938617 GRCh37: 1:55474262-55474262
GRCh38: 1:55008589-55008589
46 BSND NM_057176.3(BSND):c.597T>C (p.Asp199=) SNV Benign 226466 rs200886926 GRCh37: 1:55473935-55473935
GRCh38: 1:55008262-55008262
47 BSND NM_057176.3(BSND):c.177+11G>A SNV Benign 46546 rs78904893 GRCh37: 1:55465047-55465047
GRCh38: 1:54999374-54999374
48 BSND NM_057176.3(BSND):c.-156G>C SNV Benign 297672 rs183925883 GRCh37: 1:55464704-55464704
GRCh38: 1:54999031-54999031
49 BSND NM_057176.3(BSND):c.*94A>G SNV Benign 297682 rs80300625 GRCh37: 1:55474395-55474395
GRCh38: 1:55008722-55008722
50 BSND NM_057176.3(BSND):c.*24A>C SNV Benign 297681 rs6682884 GRCh37: 1:55474325-55474325
GRCh38: 1:55008652-55008652

UniProtKB/Swiss-Prot genetic disease variations for Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness:

72
# Symbol AA change Variation ID SNP ID
1 BSND p.Arg8Leu VAR_019783 rs74315288
2 BSND p.Arg8Trp VAR_019784 rs74315285
3 BSND p.Gly10Ser VAR_019785 rs74315287
4 BSND p.Gly47Arg VAR_019786 rs74315289

Expression for Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness

Search GEO for disease gene expression data for Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness.

Pathways for Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness

Pathways related to Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.63 OSTM1 CLCNKB BSND
2
Show member pathways
11.25 KCNT1 CLCNKB
3 10.26 KCNJ1 CLCNKB BSND

GO Terms for Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness

Cellular components related to Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.17 OSTM1 KCNT1 KCNJ18 KCNJ1 CLCNKB CHRNA2

Biological processes related to Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chloride transmembrane transport GO:1902476 9.43 CLCNKB BSND
2 regulation of ion transmembrane transport GO:0034765 9.43 KCNJ18 KCNJ1 CLCNKB
3 chloride transport GO:0006821 9.4 CLCNKB BSND
4 potassium ion import across plasma membrane GO:1990573 9.37 KCNJ18 KCNJ1
5 ion transport GO:0006811 9.35 KCNT1 KCNJ18 KCNJ1 CLCNKB CHRNA2
6 potassium ion transport GO:0006813 9.33 KCNT1 KCNJ18 KCNJ1
7 excretion GO:0007588 9.32 KCNJ1 CLCNKB
8 ion transmembrane transport GO:0034220 9.02 OSTM1 KCNJ1 CLCNKB CHRNA2 BSND

Molecular functions related to Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chloride channel activity GO:0005254 9.16 CLCNKB BSND
2 inward rectifier potassium channel activity GO:0005242 8.96 KCNJ18 KCNJ1
3 voltage-gated ion channel activity GO:0005244 8.8 KCNJ18 KCNJ1 CLCNKB

Sources for Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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