BARTS4A
MCID: BRT053
MIFTS: 29

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 58
Sensorineural Deafness with Mild Renal Dysfunction 58 76 30 6
Bartter Syndrome, Type 4a 58 13 74
Barts4a 58 12 76
Bsnd 58 12 76
Bartter Syndrome, Neonatal, with Sensorineural Deafness 58 76
Bartter Disease Type 4a 12 15
Bartter Syndrome, Neonatal, with Sensorineural Deafness; Bsnd 58
Bartter Syndrome 4a, Neonatal, with Sensorineural Deafness 76
Infantile Bartter Syndrome with Sensorineural Deafness 76
Neonatal Bartter Syndrome with Sensorineural Deafness 12
Hypokalemic Alkalosis with Hypercalciuria Antenatal 4 76
Hyperprostanglandin E Syndrome 4 76
Bartter Syndrome Type 4a 12

Characteristics:

OMIM:

58
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:

33
bartter syndrome, type 4a, neonatal, with sensorineural deafness:
Onset and clinical course congenital onset
Inheritance heterogeneous autosomal recessive inheritance


Classifications:



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

OMIM : 58 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)

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 4 and bartter syndrome, type 3, and has symptoms including polyuria An important gene associated with Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness is BSND (Barttin CLCNK Type Accessory Beta Subunit). Affiliated tissues include kidney, and related phenotypes are intellectual disability and muscular hypotonia

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 : 76 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

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:

33 (show all 27)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 muscular hypotonia 33 HP:0001252
3 failure to thrive 33 HP:0001508
4 sensorineural hearing impairment 33 HP:0000407
5 renal insufficiency 33 HP:0000083
6 hypokalemia 33 HP:0002900
7 edema 33 HP:0000969
8 hydrops fetalis 33 HP:0001789
9 motor delay 33 HP:0001270
10 polyhydramnios 33 HP:0001561
11 hyperaldosteronism 33 HP:0000859
12 hyponatremia 33 HP:0002902
13 hyporeflexia 33 HP:0001265
14 premature birth 33 HP:0001622
15 generalized hypotonia 33 HP:0001290
16 renal salt wasting 33 HP:0000127
17 hypernatriuria 33 HP:0012605
18 fetal polyuria 33 HP:0001563
19 tubulointerstitial fibrosis 33 HP:0005576
20 increased urinary potassium 33 HP:0003081
21 decreased glomerular filtration rate 33 HP:0012213
22 polyuria 33 HP:0000103
23 hypochloremia 33 HP:0003113
24 global glomerulosclerosis 33 HP:0004737
25 hypokalemic hypochloremic metabolic alkalosis 33 HP:0004909
26 reduced renal corticomedullary differentiation 33 HP:0005565
27 hyperchloriduria 33 HP:0002914

Symptoms via clinical synopsis from OMIM:

58
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

Head And Neck Ears:
deafness, sensorineural

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
inability to concentrate urine
renal failure, chronic
more
Prenatal Manifestations Delivery:
premature delivery

Metabolic Features:
hypokalemic hypochloremic metabolic alkalosis

Clinical features from OMIM:

602522

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 Sensorineural Deafness with Mild Renal Dysfunction 30

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

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

42
Kidney

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

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

# Title Authors Year
1
Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome. ( 19646679 )
2009
2
Linkage of infantile Bartter syndrome with sensorineural deafness to chromosome 1p. ( 9463315 )
1998

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

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

76
# 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

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

6 (show all 24)
# Gene Variation Type Significance SNP ID Assembly Location
1 BSND NM_057176.3(BSND): c.1A> T (p.Met1Leu) single nucleotide variant Pathogenic rs74315284 GRCh37 Chromosome 1, 55464860: 55464860
2 BSND NM_057176.3(BSND): c.1A> T (p.Met1Leu) single nucleotide variant Pathogenic rs74315284 GRCh38 Chromosome 1, 54999187: 54999187
3 BSND NM_057176.3(BSND): c.22C> T (p.Arg8Trp) single nucleotide variant Pathogenic rs74315285 GRCh37 Chromosome 1, 55464881: 55464881
4 BSND NM_057176.3(BSND): c.22C> T (p.Arg8Trp) single nucleotide variant Pathogenic rs74315285 GRCh38 Chromosome 1, 54999208: 54999208
5 BSND BSND, IVS1, 41-BP DEL deletion Pathogenic
6 BSND BSND, EX3-EX4 DEL deletion Pathogenic
7 BSND NM_057176.3(BSND): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs74315286 GRCh37 Chromosome 1, 55464862: 55464862
8 BSND NM_057176.3(BSND): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs74315286 GRCh38 Chromosome 1, 54999189: 54999189
9 BSND NM_057176.3(BSND): c.28G> A (p.Gly10Ser) single nucleotide variant Pathogenic rs74315287 GRCh37 Chromosome 1, 55464887: 55464887
10 BSND NM_057176.3(BSND): c.28G> A (p.Gly10Ser) single nucleotide variant Pathogenic rs74315287 GRCh38 Chromosome 1, 54999214: 54999214
11 BSND NM_057176.3(BSND): c.23G> T (p.Arg8Leu) single nucleotide variant Pathogenic rs74315288 GRCh37 Chromosome 1, 55464882: 55464882
12 BSND NM_057176.3(BSND): c.23G> T (p.Arg8Leu) single nucleotide variant Pathogenic rs74315288 GRCh38 Chromosome 1, 54999209: 54999209
13 BSND NM_057176.3(BSND): c.139G> A (p.Gly47Arg) single nucleotide variant Pathogenic rs74315289 GRCh37 Chromosome 1, 55464998: 55464998
14 BSND NM_057176.3(BSND): c.139G> A (p.Gly47Arg) single nucleotide variant Pathogenic rs74315289 GRCh38 Chromosome 1, 54999325: 54999325
15 BSND NM_057176.3(BSND): c.35T> C (p.Ile12Thr) single nucleotide variant Pathogenic rs121908144 GRCh37 Chromosome 1, 55464894: 55464894
16 BSND NM_057176.3(BSND): c.35T> C (p.Ile12Thr) single nucleotide variant Pathogenic rs121908144 GRCh38 Chromosome 1, 54999221: 54999221
17 BSND NM_057176.3(BSND): c.10G> T (p.Glu4Ter) single nucleotide variant Pathogenic rs121908145 GRCh37 Chromosome 1, 55464869: 55464869
18 BSND NM_057176.3(BSND): c.10G> T (p.Glu4Ter) single nucleotide variant Pathogenic rs121908145 GRCh38 Chromosome 1, 54999196: 54999196
19 BSND NM_057176.3(BSND): c.924G> A (p.Pro308=) single nucleotide variant Benign/Likely benign rs33938617 GRCh37 Chromosome 1, 55474262: 55474262
20 BSND NM_057176.3(BSND): c.924G> A (p.Pro308=) single nucleotide variant Benign/Likely benign rs33938617 GRCh38 Chromosome 1, 55008589: 55008589
21 BSND NM_057176.3(BSND): c.893G> A (p.Gly298Glu) single nucleotide variant Uncertain significance rs180858237 GRCh38 Chromosome 1, 55008558: 55008558
22 BSND NM_057176.3(BSND): c.893G> A (p.Gly298Glu) single nucleotide variant Uncertain significance rs180858237 GRCh37 Chromosome 1, 55474231: 55474231
23 BSND NM_057176.3(BSND): c.452delC (p.Pro151Leufs) deletion Pathogenic GRCh37 Chromosome 1, 55472849: 55472849
24 BSND NM_057176.3(BSND): c.452delC (p.Pro151Leufs) deletion Pathogenic GRCh38 Chromosome 1, 55007176: 55007176

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

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

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