BARTS1
MCID: BRT052
MIFTS: 43

Bartter Syndrome, Type 1, Antenatal (BARTS1)

Categories: Fetal diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Bartter Syndrome, Type 1, Antenatal

MalaCards integrated aliases for Bartter Syndrome, Type 1, Antenatal:

Name: Bartter Syndrome, Type 1, Antenatal 57 29 6
Hyperprostaglandin E Syndrome 1 57 12 20 73
Barts1 57 12 73
Hypokalemic Alkalosis with Hypercalciuria Antenatal 1 20 73
Bartter Syndrome, Type 1 57 13
Bartter Disease Type 1 12 15
Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis 71
Hypokalemic Alkalosis with Hypercalciuria 1, Antenatal 57
Hypokalemic Alkalosis with Hypercalciuria 1 Antenatal 12
Bartter Syndrome, Antenatal Type 1 71
Bartter Syndrome Type 1 Antenatal 12
Bartter Syndrome Antenatal Type 1 20
Antenatal Bartter Syndrome Type 1 20
Bartter Syndrome 1, Antenatal 73
Antenatal Bartter Syndrome 1 73
Syndrome, Bartter, Type 1 39
Bartter Syndrome Type 1 12
Abs1 73
Bs1 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity (see antenatal bartter syndrome type 2, )


HPO:

31
bartter syndrome, type 1, antenatal:
Inheritance autosomal recessive inheritance heterogeneous


Classifications:



Summaries for Bartter Syndrome, Type 1, Antenatal

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 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. (601678) (Updated 05-Mar-2021)

MalaCards based summary : Bartter Syndrome, Type 1, Antenatal, also known as hyperprostaglandin e syndrome 1, is related to diabetes insipidus and bartter syndrome, type 3, and has symptoms including seizures, constipation and vomiting. An important gene associated with Bartter Syndrome, Type 1, Antenatal is SLC12A1 (Solute Carrier Family 12 Member 1), and among its related pathways/superpathways is Diuretics Pathway, Pharmacodynamics. Related phenotypes are hyperparathyroidism and intellectual disability

Disease Ontology : 12 A Bartter disease that has material basis in homozygous or compound heterozygous mutation in the sodium-potassium-chloride cotransporter-2 gene (SLC12A1) on chromosome 15q21.

UniProtKB/Swiss-Prot : 73 Bartter syndrome 1, antenatal: 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. BARTS1 is a life- threatening condition beginning in utero, with marked fetal polyuria that leads to polyhydramnios and premature delivery. Another hallmark is a marked hypercalciuria and, as a secondary consequence, the development of nephrocalcinosis and osteopenia.

Related Diseases for Bartter Syndrome, Type 1, Antenatal

Diseases in the Antenatal Bartter Syndrome family:

Bartter Syndrome, Type 2, Antenatal Bartter Syndrome, Type 5, Antenatal, Transient
Bartter Syndrome, Type 1, Antenatal Transient Antenatal Bartter Syndrome

Diseases related to Bartter Syndrome, Type 1, Antenatal via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 39)
# Related Disease Score Top Affiliating Genes
1 diabetes insipidus 30.4 SLC12A1 AQP2
2 bartter syndrome, type 3 30.2 SLC12A3 SLC12A1 KCNJ1 CLDN19 CLDN16 CASR
3 polyhydramnios 30.0 SLC12A3 SLC12A1 KCNJ1
4 hypokalemia 29.6 SLC12A3 SLC12A1 KCNJ1 CASR AQP2
5 diabetes insipidus, nephrogenic, autosomal 29.4 SLC12A3 SLC12A1 KCNJ1 CASR AQP2
6 nephrocalcinosis 29.1 SLC12A3 SLC12A1 KCNJ1 CLDN19 CLDN16 CASR
7 bartter disease 28.6 SLC12A3 SLC12A1 PCBD1 KCNJ1 CLDN19 CLDN16
8 antley-bixler syndrome with genital anomalies and disordered steroidogenesis 11.2
9 bartter syndrome, type 4b, neonatal, with sensorineural deafness 10.9
10 antenatal bartter syndrome 10.1 SLC12A1 KCNJ1
11 metabolic acidosis 10.0
12 renal tubular acidosis 10.0
13 distal renal tubular acidosis 10.0
14 seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance 10.0 SLC12A3 SLC12A1 KCNJ1
15 arthrogryposis, distal, type 3 10.0 SLC12A3 SLC12A1 KCNJ1
16 chondrocalcinosis 10.0 SLC12A3 CASR
17 neutropenia 10.0
18 oral cancer 10.0
19 deafness, autosomal recessive 29 10.0 CLDN19 CLDN16
20 hypomagnesemia 1, intestinal 9.9 CLDN19 CLDN16
21 distal arthrogryposis 9.9 SLC12A3 SLC12A1 KCNJ1
22 bartter syndrome, type 2, antenatal 9.9 SLC12A1 KCNJ1 CASR
23 hereditary lymphedema 9.9 CLDN19 CLDN16
24 liddle syndrome 1 9.8 SLC12A3 SLC12A1 KCNJ1 AQP2
25 hereditary lymphedema i 9.8 CLDN19 CLDN16
26 hypokalemic periodic paralysis, type 1 9.8 SLC12A3 KCNJ1
27 mineral metabolism disease 9.7 SLC12A3 SLC12A1 KCNJ1 CASR
28 hypercalciuria, absorptive, 2 9.7 KCNJ1 CLDN16 CASR
29 familial hypocalciuric hypercalcemia 9.7 CLDN19 CLDN16 CASR
30 hypocalcemia, autosomal dominant 1 9.7 CLDN16 CASR
31 kidney disease 9.7 SLC12A3 SLC12A1 CASR AQP2
32 hypomagnesemia 5, renal, with or without ocular involvement 9.6 SLC12A1 KCNJ1 CLDN19 CLDN16
33 primary hypomagnesemia 9.6 SLC12A1 KCNJ1 CLDN19 CLDN16
34 renal tubular transport disease 9.6 SLC12A3 SLC12A1 KCNJ1 CASR AQP2
35 nephrolithiasis, calcium oxalate 9.6 SLC12A1 CLDN19 CLDN16 CASR
36 dent disease 1 9.6 SLC12A1 KCNJ1 CLDN16 CASR
37 hypertension, essential 9.5 SLC12A3 SLC12A1 KCNJ1 CASR AQP2
38 gitelman syndrome 9.4 SLC12A3 SLC12A1 KCNJ1 CLDN16 CASR
39 nephrolithiasis 9.4 SLC12A1 KCNJ1 CLDN19 CLDN16 CASR

Graphical network of the top 20 diseases related to Bartter Syndrome, Type 1, Antenatal:



Diseases related to Bartter Syndrome, Type 1, Antenatal

Symptoms & Phenotypes for Bartter Syndrome, Type 1, Antenatal

Human phenotypes related to Bartter Syndrome, Type 1, Antenatal:

31 (show all 41)
# Description HPO Frequency HPO Source Accession
1 hyperparathyroidism 31 occasional (7.5%) HP:0000843
2 intellectual disability 31 HP:0001249
3 failure to thrive 31 HP:0001508
4 constipation 31 HP:0002019
5 osteopenia 31 HP:0000938
6 global developmental delay 31 HP:0001263
7 short stature 31 HP:0004322
8 dehydration 31 HP:0001944
9 vomiting 31 HP:0002013
10 hypokalemia 31 HP:0002900
11 fever 31 HP:0001945
12 polyhydramnios 31 HP:0001561
13 nephrocalcinosis 31 HP:0000121
14 hyperaldosteronism 31 HP:0000859
15 hypercalciuria 31 HP:0002150
16 paresthesia 31 HP:0003401
17 tetany 31 HP:0001281
18 hypercalcemia 31 HP:0003072
19 premature birth 31 HP:0001622
20 chondrocalcinosis 31 HP:0000934
21 generalized muscle weakness 31 HP:0003324
22 diarrhea 31 HP:0002014
23 small for gestational age 31 HP:0001518
24 muscle spasm 31 HP:0003394
25 fetal polyuria 31 HP:0001563
26 hypomagnesemia 31 HP:0002917
27 hypokalemic metabolic alkalosis 31 HP:0001960
28 renal salt wasting 31 HP:0000127
29 increased circulating renin level 31 HP:0000848
30 hyperprostaglandinuria 31 HP:0003527
31 hyposthenuria 31 HP:0003158
32 increased urinary potassium 31 HP:0003081
33 low-to-normal blood pressure 31 HP:0002632
34 renal potassium wasting 31 HP:0000128
35 polyuria 31 HP:0000103
36 seizure 31 HP:0001250
37 hyperactive renin-angiotensin system 31 HP:0000841
38 hypochloremia 31 HP:0003113
39 increased serum prostaglandin e2 31 HP:0003566
40 renal juxtaglomerular cell hypertrophy/hyperplasia 31 HP:0000111
41 hyperchloriduria 31 HP:0002914

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
seizures
developmental delay
mental retardation
paresthesias

Abdomen Gastrointestinal:
constipation
vomiting
diarrhea

Growth Height:
short stature

Laboratory Abnormalities:
hypokalemia
hypercalciuria
hypercalcemia
hyperprostaglandinuria
hyposthenuria
more
Genitourinary Kidneys:
nephrocalcinosis
renal salt wasting
renal potassium wasting
polyuria
renal juxtaglomerular cell hypertrophy/hyperplasia

Cardiovascular Vascular:
low-to-normal blood pressure

Prenatal Manifestations Delivery:
premature delivery

Growth Other:
failure to thrive

Skeletal:
osteopenia
chondrocalcinosis

Metabolic Features:
dehydration
fever
hypokalemic metabolic alkalosis

Prenatal Manifestations Amniotic Fluid:
polyhydramnios
fetal polyuria
increased chloride levels

Muscle Soft Tissue:
tetany
muscle cramps
generalized weakness

Endocrine Features:
hyperactive renin-angiotensin system
increased plasma renin
increased plasma aldosterone
hyperparathyroidism (in some patients)

Growth Weight:
low birth weight

Clinical features from OMIM®:

601678 (Updated 05-Mar-2021)

UMLS symptoms related to Bartter Syndrome, Type 1, Antenatal:


seizures, constipation, vomiting, fever, diarrhea, muscle cramp, polyuria, weakness

MGI Mouse Phenotypes related to Bartter Syndrome, Type 1, Antenatal:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 9.17 AQP2 CASR CLDN16 KCNJ1 PCBD1 SLC12A1

Drugs & Therapeutics for Bartter Syndrome, Type 1, Antenatal

Search Clinical Trials , NIH Clinical Center for Bartter Syndrome, Type 1, Antenatal

Genetic Tests for Bartter Syndrome, Type 1, Antenatal

Genetic tests related to Bartter Syndrome, Type 1, Antenatal:

# Genetic test Affiliating Genes
1 Bartter Syndrome, Type 1, Antenatal 29 SLC12A1

Anatomical Context for Bartter Syndrome, Type 1, Antenatal

Publications for Bartter Syndrome, Type 1, Antenatal

Articles related to Bartter Syndrome, Type 1, Antenatal:

(show all 19)
# Title Authors PMID Year
1
Association of Mutations in SLC12A1 Encoding the NKCC2 Cotransporter With Neonatal Primary Hyperparathyroidism. 61 57 6
26963954 2016
2
A novel SLC12A1 gene mutation associated with hyperparathyroidism, hypercalcemia, nephrogenic diabetes insipidus, and nephrocalcinosis in four patients. 6 57
28095294 2017
3
In vivo and in vitro splicing assay of SLC12A1 in an antenatal salt-losing tubulopathy patient with an intronic mutation. 57 6
19513753 2009
4
A common NKCC2 mutation in Costa Rican Bartter's syndrome patients: evidence for a founder effect. 57 6
9355073 1997
5
Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. 57 6
8640224 1996
6
Antenatal Bartter syndrome presenting as hyperparathyroidism with hypercalcemia and hypercalciuria: a case report and review. 57
25741940 2015
7
Understanding Bartter syndrome and Gitelman syndrome. 57
22282380 2012
8
Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. 57
9326936 1997
9
Bartter syndrome in Costa Rica: a description of 20 cases. 57
9203176 1997
10
Mutations in the gene encoding the inwardly-rectifying renal potassium channel, ROMK, cause the antenatal variant of Bartter syndrome: evidence for genetic heterogeneity. International Collaborative Study Group for Bartter-like Syndromes. 57
9002665 1997
11
[Antenatal form of Bartter's syndrome]. 57
8457138 1993
12
Role of prostaglandins in hyperprostaglandin E syndrome and in selected renal tubular disorders. 57
3153322 1987
13
Congenital hypokalemia with hypercalciuria in preterm infants: a hyperprostaglandinuric tubular syndrome different from Bartter syndrome. 57
3863906 1985
14
Bartter syndrome in two siblings--antenatal and neonatal observations. 57
3888887 1985
15
A variant of Bartter's syndrome. Bartter's syndrome associated with hydramnios, prematurity, hypercalciuria and nephrocalcinosis. 57
6395627 1984
16
Bartter Syndrome Type 1 Presenting as Nephrogenic Diabetes Insipidus. 61
29527380 2018
17
Genetic heterogeneity in patients with Bartter syndrome type 1. 61
28000888 2017
18
Molecular regulation of NKCC2 in the thick ascending limb. 61
21900458 2011
19
Novel SLC12A1 (NKCC2) mutations in two families with Bartter syndrome type 1. 61
17998760 2007

Variations for Bartter Syndrome, Type 1, Antenatal

ClinVar genetic disease variations for Bartter Syndrome, Type 1, Antenatal:

6 (show top 50) (show all 115)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC12A1 NM_000338.3(SLC12A1):c.1942G>A (p.Asp648Asn) SNV Pathogenic 8752 rs137853157 15:48543967-48543967 15:48251770-48251770
2 SLC12A1 NM_000338.3(SLC12A1):c.814G>T (p.Val272Phe) SNV Pathogenic 8753 rs137853158 15:48521475-48521475 15:48229278-48229278
3 SLC12A1 NM_000338.3(SLC12A1):c.1875G>A (p.Trp625Ter) SNV Pathogenic 8754 rs137853159 15:48543900-48543900 15:48251703-48251703
4 SLC12A1 NM_000338.3(SLC12A1):c.724+4A>G SNV Pathogenic 8755 rs774515747 15:48518772-48518772 15:48226575-48226575
5 SLC12A1 NM_000338.3(SLC12A1):c.2095del (p.Asp699fs) Deletion Pathogenic 8756 rs1057519608 15:48551448-48551448 15:48259251-48259251
6 SLC12A1 NM_000338.3(SLC12A1):c.1522G>A (p.Ala508Thr) SNV Pathogenic 242488 rs765347751 15:48539175-48539175 15:48246978-48246978
7 SLC12A1 NM_000338.3(SLC12A1):c.1163del (p.Phe388fs) Deletion Pathogenic 265999 rs779588655 15:48527143-48527143 15:48234946-48234946
8 SLC12A1 NM_000338.3(SLC12A1):c.1833del (p.Phe611fs) Deletion Pathogenic 378051 rs1057520304 15:48543854-48543854 15:48251657-48251657
9 SLC12A1 NM_000338.3(SLC12A1):c.1883C>A (p.Ala628Asp) SNV Pathogenic 378048 rs1057520301 15:48543908-48543908 15:48251711-48251711
10 SLC12A1 NM_000338.3(SLC12A1):c.1137del (p.Phe380fs) Deletion Pathogenic 378047 rs1057520300 15:48527123-48527123 15:48234926-48234926
11 SLC12A1 NM_000338.3(SLC12A1):c.2787dup (p.Thr931fs) Duplication Pathogenic 378049 rs1057520302 15:48580626-48580627 15:48288429-48288430
12 SLC12A1 NM_001184832.2(SLC12A1):c.2494_2495GA[2] (p.Arg833fs) Microsatellite Pathogenic 378050 rs1057520303 15:48577310-48577311 15:48285113-48285114
13 SLC12A1 NM_000338.3(SLC12A1):c.1522G>A (p.Ala508Thr) SNV Likely pathogenic 242488 rs765347751 15:48539175-48539175 15:48246978-48246978
14 SLC12A1 NM_000338.3(SLC12A1):c.2834_2873+12del Deletion Likely pathogenic 623229 rs1566857461 15:48580672-48580723 15:48288475-48288526
15 SLC12A1 NM_000338.3(SLC12A1):c.843G>C (p.Glu281Asp) SNV Likely pathogenic 265983 rs886039870 15:48521504-48521504 15:48229307-48229307
16 SLC12A1 NM_000338.3(SLC12A1):c.347G>A (p.Arg116His) SNV Conflicting interpretations of pathogenicity 445491 rs34819316 15:48500263-48500263 15:48208066-48208066
17 SLC12A1 NM_000338.3(SLC12A1):c.1560+10G>A SNV Uncertain significance 316259 rs200934309 15:48539223-48539223 15:48247026-48247026
18 SLC12A1 NM_000338.3(SLC12A1):c.497A>G (p.Asn166Ser) SNV Uncertain significance 316256 rs142360465 15:48512907-48512907 15:48220710-48220710
19 SLC12A1 NM_000338.3(SLC12A1):c.*50A>C SNV Uncertain significance 316283 rs753708701 15:48595132-48595132 15:48302935-48302935
20 SLC12A1 NM_000338.3(SLC12A1):c.2106C>T (p.His702=) SNV Uncertain significance 316264 rs761397379 15:48551460-48551460 15:48259263-48259263
21 SLC12A1 NM_000338.3(SLC12A1):c.1912C>T (p.Leu638Phe) SNV Uncertain significance 316261 rs563102186 15:48543937-48543937 15:48251740-48251740
22 SLC12A1 NM_000338.3(SLC12A1):c.206G>A (p.Cys69Tyr) SNV Uncertain significance 586597 rs143141941 15:48500122-48500122 15:48207925-48207925
23 SLC12A1 NM_000338.3(SLC12A1):c.2435T>G (p.Ile812Arg) SNV Uncertain significance 586599 rs201516084 15:48566800-48566800 15:48274603-48274603
24 SLC12A1 NM_000338.3(SLC12A1):c.*1042C>T SNV Uncertain significance 885366 15:48596124-48596124 15:48303927-48303927
25 SLC12A1 NM_000338.3(SLC12A1):c.2919C>G (p.Ile973Met) SNV Uncertain significance 886394 15:48584020-48584020 15:48291823-48291823
26 SLC12A1 NM_000338.3(SLC12A1):c.3054G>A (p.Pro1018=) SNV Uncertain significance 753949 rs201501478 15:48591430-48591430 15:48299233-48299233
27 SLC12A1 NM_000338.3(SLC12A1):c.3103C>A (p.Arg1035Ser) SNV Uncertain significance 886395 15:48593518-48593518 15:48301321-48301321
28 SLC12A1 NM_000338.3(SLC12A1):c.1494G>A (p.Ala498=) SNV Uncertain significance 884311 15:48539147-48539147 15:48246950-48246950
29 SLC12A1 NM_000338.3(SLC12A1):c.1536T>C (p.Leu512=) SNV Uncertain significance 884312 15:48539189-48539189 15:48246992-48246992
30 SLC12A1 NM_000338.3(SLC12A1):c.1686G>A (p.Ala562=) SNV Uncertain significance 884313 15:48541773-48541773 15:48249576-48249576
31 SLC12A1 NM_000338.3(SLC12A1):c.2676C>T (p.Asn892=) SNV Uncertain significance 884368 15:48580286-48580286 15:48288089-48288089
32 SLC12A1 NM_000338.3(SLC12A1):c.2785A>G (p.Ile929Val) SNV Uncertain significance 884369 15:48580625-48580625 15:48288428-48288428
33 SLC12A1 NM_000338.3(SLC12A1):c.2825G>C (p.Arg942Thr) SNV Uncertain significance 884370 15:48580665-48580665 15:48288468-48288468
34 SLC12A1 NM_000338.3(SLC12A1):c.*436C>G SNV Uncertain significance 884434 15:48595518-48595518 15:48303321-48303321
35 SLC12A1 NM_000338.3(SLC12A1):c.*496C>T SNV Uncertain significance 884435 15:48595578-48595578 15:48303381-48303381
36 SLC12A1 NM_000338.3(SLC12A1):c.*593A>G SNV Uncertain significance 884436 15:48595675-48595675 15:48303478-48303478
37 SLC12A1 NM_000338.3(SLC12A1):c.*629G>A SNV Uncertain significance 884437 15:48595711-48595711 15:48303514-48303514
38 SLC12A1 NM_000338.3(SLC12A1):c.-113A>C SNV Uncertain significance 316251 rs546606004 15:48499804-48499804 15:48207607-48207607
39 SLC12A1 NM_000338.3(SLC12A1):c.*1179A>T SNV Uncertain significance 316295 rs886051218 15:48596261-48596261 15:48304064-48304064
40 SLC12A1 NM_000338.3(SLC12A1):c.*590T>C SNV Uncertain significance 316292 rs886051216 15:48595672-48595672 15:48303475-48303475
41 SLC12A1 NM_000338.3(SLC12A1):c.2435T>C (p.Ile812Thr) SNV Uncertain significance 316270 rs201516084 15:48566800-48566800 15:48274603-48274603
42 SLC12A1 NM_000338.3(SLC12A1):c.381C>T (p.Asn127=) SNV Uncertain significance 316254 rs370459859 15:48500297-48500297 15:48208100-48208100
43 SLC12A1 NM_000338.3(SLC12A1):c.3113G>A (p.Arg1038Gln) SNV Uncertain significance 316281 rs141652885 15:48593528-48593528 15:48301331-48301331
44 SLC12A1 NM_000338.3(SLC12A1):c.2943T>C (p.Ile981=) SNV Uncertain significance 316278 rs139832082 15:48584044-48584044 15:48291847-48291847
45 SLC12A1 NM_000338.3(SLC12A1):c.2028C>T (p.His676=) SNV Uncertain significance 316262 rs145784441 15:48548093-48548093 15:48255896-48255896
46 SLC12A1 NM_000338.3(SLC12A1):c.2854A>C (p.Ile952Leu) SNV Uncertain significance 316276 rs886051214 15:48580694-48580694 15:48288497-48288497
47 SLC12A1 NM_000338.3(SLC12A1):c.2255C>T (p.Ala752Val) SNV Uncertain significance 316268 rs137893258 15:48559858-48559858 15:48267661-48267661
48 SLC12A1 NM_000338.3(SLC12A1):c.-100C>T SNV Uncertain significance 316252 rs886051211 15:48499817-48499817 15:48207620-48207620
49 SLC12A1 NM_000338.3(SLC12A1):c.*921T>C SNV Uncertain significance 316293 rs886051217 15:48596003-48596003 15:48303806-48303806
50 SLC12A1 NM_000338.3(SLC12A1):c.2781C>G (p.Pro927=) SNV Uncertain significance 316274 rs886051213 15:48580621-48580621 15:48288424-48288424

UniProtKB/Swiss-Prot genetic disease variations for Bartter Syndrome, Type 1, Antenatal:

73
# Symbol AA change Variation ID SNP ID
1 SLC12A1 p.Val272Phe VAR_010223 rs137853158
2 SLC12A1 p.Asp648Asn VAR_010224 rs137853157

Expression for Bartter Syndrome, Type 1, Antenatal

Search GEO for disease gene expression data for Bartter Syndrome, Type 1, Antenatal.

Pathways for Bartter Syndrome, Type 1, Antenatal

Pathways related to Bartter Syndrome, Type 1, Antenatal according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.26 SLC12A3 SLC12A1 KCNJ1

GO Terms for Bartter Syndrome, Type 1, Antenatal

Cellular components related to Bartter Syndrome, Type 1, Antenatal according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.73 SLC12A3 SLC12A1 PCBD1 EPS8L1 ARL6 AQP2
2 plasma membrane GO:0005886 9.61 SLC12A3 SLC12A1 KCNJ1 EPS8L1 CLDN19 CLDN16
3 basolateral plasma membrane GO:0016323 9.33 CLDN19 CASR AQP2
4 apical plasma membrane GO:0016324 8.92 SLC12A3 SLC12A1 CASR AQP2

Biological processes related to Bartter Syndrome, Type 1, Antenatal according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.76 SLC12A3 SLC12A1 KCNJ1 CLDN16
2 bicellular tight junction assembly GO:0070830 9.48 CLDN19 CLDN16
3 excretion GO:0007588 9.43 KCNJ1 CLDN16
4 calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules GO:0016338 9.4 CLDN19 CLDN16
5 cell volume homeostasis GO:0006884 9.37 SLC12A3 SLC12A1
6 sodium ion homeostasis GO:0055078 9.32 SLC12A3 SLC12A1
7 potassium ion homeostasis GO:0055075 9.26 SLC12A3 SLC12A1
8 chloride ion homeostasis GO:0055064 9.16 SLC12A3 SLC12A1
9 chloride transmembrane transport GO:1902476 9.13 SLC12A3 SLC12A1 CASR
10 potassium ion import across plasma membrane GO:1990573 8.8 SLC12A3 SLC12A1 KCNJ1

Molecular functions related to Bartter Syndrome, Type 1, Antenatal according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 potassium:chloride symporter activity GO:0015379 9.16 SLC12A3 SLC12A1
2 cation:chloride symporter activity GO:0015377 8.96 SLC12A3 SLC12A1
3 sodium:potassium:chloride symporter activity GO:0008511 8.62 SLC12A3 SLC12A1

Sources for Bartter Syndrome, Type 1, Antenatal

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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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