HUPRAS
MCID: HYP815
MIFTS: 53

Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome (HUPRAS)

Categories: Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Hyperuricemia, Pulmonary Hypertension, Renal Failure, and...

MalaCards integrated aliases for Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome:

Name: Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome 56 73 71
Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis 56 29 13 6 39
Hupra Syndrome 56 58 73
Alkalosis 43 71 32
Hupras 56 73
Hyperuricemia-Pulmonary Hypertension-Renal Failure-Alkalosis Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
fatal before age 2 years
four patients have been reported from pakistan (as of march 2011)


HPO:

31
hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare renal diseases
Rare respiratory diseases
Inborn errors of metabolism


Summaries for Hyperuricemia, Pulmonary Hypertension, Renal Failure, and...

OMIM : 56 HUPRA syndrome is a severe autosomal recessive multisystem disorder characterized by onset in infancy of progressive renal failure leading to electrolyte imbalances, metabolic alkalosis, pulmonary hypertension, hypotonia, and delayed development. Affected individuals are born prematurely (summary by Belostotsky et al., 2011). (613845)

MalaCards based summary : Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome, also known as hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, is related to liddle syndrome 1 and meconium ileus, and has symptoms including polyuria An important gene associated with Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome is SARS2 (Seryl-TRNA Synthetase 2, Mitochondrial), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Pancreatic secretion. The drugs Acetazolamide and Indomethacin have been mentioned in the context of this disorder. Affiliated tissues include kidney, whole blood and liver, and related phenotypes are proteinuria and failure to thrive

UniProtKB/Swiss-Prot : 73 Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome: A multisystem disorder characterized by onset in infancy of progressive renal failure leading to electrolyte imbalances, metabolic alkalosis, pulmonary hypertension, hypotonia, and delayed development. Affected individuals are born prematurely.

Related Diseases for Hyperuricemia, Pulmonary Hypertension, Renal Failure, and...

Diseases related to Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 283)
# Related Disease Score Top Affiliating Genes
1 liddle syndrome 1 31.5 SLC12A1 CFTR
2 meconium ileus 29.0 SLC4A4 CFTR
3 ileus 28.9 SLC4A4 CFTR
4 hypokalemic alkalosis, familial, with specific renal tubulopathy 12.4
5 bartter syndrome, type 1, antenatal 12.2
6 bartter disease 12.1
7 bartter syndrome, type 4a, neonatal, with sensorineural deafness 12.0
8 bartter syndrome, type 2, antenatal 12.0
9 bartter syndrome, type 3 11.7
10 gitelman syndrome 11.6
11 apparent mineralocorticoid excess 11.6
12 hypocalcemia, autosomal dominant 1 11.5
13 carbonic anhydrase va deficiency, hyperammonemia due to 11.5
14 bartter syndrome type 4 11.5
15 congenital chloride diarrhea 11.4
16 hypoparathyroidism 11.4
17 diarrhea 1, secretory chloride, congenital 11.4
18 duodenal atresia 11.4
19 seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance 11.3
20 glucocorticoid resistance, generalized 11.3
21 bartter syndrome, type 4b, neonatal, with sensorineural deafness 11.2
22 liddle syndrome 3 11.2
23 carbonic anhydrase va deficiency 11.2
24 hyperaldosteronism, familial, type i 11.1
25 hypomagnesemia 2, renal 11.1
26 argininemia 11.1
27 argininosuccinic aciduria 11.1
28 carbamoyl phosphate synthetase i deficiency, hyperammonemia due to 11.1
29 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 11.1
30 bartter syndrome, type 5, antenatal, transient 11.1
31 ornithine transcarbamylase deficiency, hyperammonemia due to 11.1
32 hyperaldosteronism, familial, type ii 11.1
33 liddle syndrome 2 11.1
34 hypokalemia 10.9
35 metabolic acidosis 10.8
36 cystic fibrosis 10.6
37 diarrhea 10.5
38 fibrosis of extraocular muscles, congenital, 1 10.4
39 pulmonary hypertension 10.4
40 renal hypertension 10.4
41 hyperuricemia 10.4
42 respiratory failure 10.4
43 hypoxia 10.4
44 pyloric stenosis 10.4
45 ocular motor apraxia 10.3
46 peptic ulcer disease 10.3
47 seizure disorder 10.3
48 visual epilepsy 10.3
49 acute kidney failure 10.3
50 lactic acidosis 10.3

Comorbidity relations with Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome via Phenotypic Disease Network (PDN): (show all 28)


Active Peptic Ulcer Disease Acute Cor Pulmonale
Acute Cystitis Acute Kidney Failure
Anxiety Aortic Valve Disease 1
Bronchitis Cardiac Arrest
Chronic Pulmonary Heart Disease Decubitus Ulcer
Deficiency Anemia Esophagitis
Familial Atrial Fibrillation Heart Disease
Hypertension, Essential Hypothyroidism
Intermediate Coronary Syndrome Iron Deficiency Anemia
Mitral Valve Disease Osteoporosis
Paralytic Ileus Peripheral Vascular Disease
Postinflammatory Pulmonary Fibrosis Protein-Energy Malnutrition
Pulmonary Hypertension, Primary, 1 Respiratory Failure
Schizophreniform Disorder Tricuspid Valve Disease

Graphical network of the top 20 diseases related to Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome:



Diseases related to Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome

Symptoms & Phenotypes for Hyperuricemia, Pulmonary Hypertension, Renal Failure, and...

Human phenotypes related to Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome:

31 (show all 20)
# Description HPO Frequency HPO Source Accession
1 proteinuria 31 HP:0000093
2 failure to thrive 31 HP:0001508
3 feeding difficulties 31 HP:0011968
4 anemia 31 HP:0001903
5 hyperuricemia 31 HP:0002149
6 pulmonary arterial hypertension 31 HP:0002092
7 thrombocytopenia 31 HP:0001873
8 diabetes mellitus 31 HP:0000819
9 hyponatremia 31 HP:0002902
10 premature birth 31 HP:0001622
11 respiratory failure 31 HP:0002878
12 generalized hypotonia 31 HP:0001290
13 leukopenia 31 HP:0001882
14 chronic kidney disease 31 HP:0012622
15 hypomagnesemia 31 HP:0002917
16 renal salt wasting 31 HP:0000127
17 type 2 muscle fiber atrophy 31 HP:0003554
18 hyperechogenic kidneys 31 HP:0004719
19 polyuria 31 HP:0000103
20 hypochloremic metabolic alkalosis 31 HP:0005977

Symptoms via clinical synopsis from OMIM:

56
Laboratory Abnormalities:
proteinuria
hyperuricemia
hyponatremia
hypomagnesemia
increased serum and csf lactate

Abdomen Gastrointestinal:
feeding difficulties

Endocrine Features:
diabetes mellitus

Genitourinary Kidneys:
renal salt wasting
hyperechogenic kidneys
polyuria
renal failure, progressive
low fractional excretion of uric acid
more
Muscle Soft Tissue:
hypotonia
type 2 fiber atrophy
variation in fiber size seen on muscle biopsy
cox deficiency
enlarged mitochondria
more
Cardiovascular Vascular:
primary pulmonary hypertension

Growth Other:
failure to thrive

Hematology:
anemia
thrombocytopenia
leukopenia

Respiratory:
respiratory failure

Metabolic Features:
hypochloremic metabolic alkalosis

Prenatal Manifestations Delivery:
premature delivery

Neurologic Central Nervous System:
globally delayed development

Clinical features from OMIM:

613845

UMLS symptoms related to Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome:


polyuria

Drugs & Therapeutics for Hyperuricemia, Pulmonary Hypertension, Renal Failure, and...

Drugs for Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 106)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetazolamide Approved, Vet_approved Phase 4 59-66-5 1986
2
Indomethacin Approved, Investigational Phase 4 53-86-1 3715
3
Sodium citrate Approved, Investigational Phase 4 68-04-2
4
Metoclopramide Approved, Investigational Phase 4 364-62-5 4168
5
Ondansetron Approved Phase 4 99614-02-5 4595
6
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
7
Heparin Approved, Investigational Phase 4 9005-49-6 46507594 772
8
Angiotensin II Approved, Investigational Phase 4 4474-91-3, 11128-99-7, 68521-88-0 172198
9
Losartan Approved Phase 4 114798-26-4 3961
10
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
11
Ornithine Approved, Nutraceutical Phase 4 70-26-8, 3184-13-2 6262
12
Aspartic acid Approved, Nutraceutical Phase 4 56-84-8 5960
13 Fibrinolytic Agents Phase 4
14 diuretics Phase 4
15 Anticonvulsants Phase 4
16 Carbonic Anhydrase Inhibitors Phase 4
17 Analgesics, Non-Narcotic Phase 4
18 Cyclooxygenase Inhibitors Phase 4
19 Antirheumatic Agents Phase 4
20 Anti-Inflammatory Agents Phase 4
21 Anti-Inflammatory Agents, Non-Steroidal Phase 4
22 Tocolytic Agents Phase 4
23 Dialysis Solutions Phase 4
24 Gastrointestinal Agents Phase 4
25 Neurotransmitter Agents Phase 4
26 Citrate Phase 4
27 Chelating Agents Phase 4
28 Anticoagulants Phase 4
29 Dopamine Agents Phase 4
30 Dopamine Antagonists Phase 4
31 Anti-Anxiety Agents Phase 4
32 Antiemetics Phase 4
33 Psychotropic Drugs Phase 4
34 Antipsychotic Agents Phase 4
35 Dermatologic Agents Phase 4
36 calcium heparin Phase 4
37 N-Methylaspartate Phase 4
38 Liver Extracts Phase 4
39 Plasma-lyte 148 Phase 4
40 Ophthalmic Solutions Phase 4
41 Antihypertensive Agents Phase 4
42 Angiotensin II Type 1 Receptor Blockers Phase 4
43 Angiotensinogen Phase 4
44 Angiotensin Receptor Antagonists Phase 4
45 Anti-Arrhythmia Agents Phase 4
46 Giapreza Phase 4
47 Pharmaceutical Solutions Phase 4
48 Calcium, Dietary Phase 4
49
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
50
Calcium Nutraceutical Phase 4 7440-70-2 271

Interventional clinical trials:

(show top 50) (show all 75)
# Name Status NCT ID Phase Drugs
1 Comparison of Slow Efficiency Daily Dialysis (SLEDD) With Unfractionated Heparin Versus Citrasate in Critically Ill Patients. Unknown status NCT01228292 Phase 4 Unfractionated heparin;Citrasate
2 A Randomized Trial to Evaluate Effectiveness of Acetazolamide in COPD Patients Developing Metabolic Alkalosis During Invasive Mechanical Ventilation Completed NCT01627639 Phase 4 Acetazolamide;Placebo
3 Acetazolamide for Respiratory Failure in Combination With Metabolic Alkalosis Completed NCT00222534 Phase 4 Acetazolamide;Placebo
4 The Influence of Cerebral Blood Flow and Alkalosis on Neuromuscular Function During Environmental Stress Completed NCT01830335 Phase 4 Indomethacin;Placebo
5 The Influence of Cerebral Blood Flow and PETCO2 on Neuromuscular Function During Passive Heat Stress Completed NCT01848665 Phase 4 Indomethacin;Placebo
6 Ondansetron 4 mg vs. 2 mg vs. Metoclopramide 10 mg for Nausea and Vomiting in the Emergency Department: A Randomized, Double-Blind Clinical Trial Completed NCT00778011 Phase 4 Ondansetron;Ondansetron;Metoclopramide
7 Acetazolamide for the Prevention of High Altitude Illness: a Comparison of Dosing Completed NCT01993667 Phase 4 Low Dose Acetazolamide;Normal Dose Acetazolamide
8 Citrate-based Regional Anticoagulation Versus Heparin for Continuous Renal Replacement Therapy in Critically Ill Patients With Acute Renal Failure: a Randomized Controlled Trial Completed NCT01269112 Phase 4
9 Open-label, Randomized, Controlled, With Blind Assessor, Study to Assess Efficacy and Safety of Rheosorbilact®, Solution for Infusion ("Yuria-Pharm"), in Comparison With Ringer's Lactate,Solution for Infusion, in a Complex Therapy of Pneumonia. Completed NCT03824457 Phase 4 Rheosorbilact®;Ringer lactate
10 Open-label, Randomized, Controlled, With Blind Assessor, Study to Assess Efficacy and Safety of Rheosorbilact®, Solution for Infusion, in Comparison With Ringer's Lactate,Solution for Infusion, in a Complex Therapy of Peritonitis. Completed NCT03771170 Phase 4 Rheosorbilact®;Ringer lactate
11 Open-label, Randomized, Controlled, With Blind Assessor, Study to Assess Efficacy and Safety of Rheosorbilact®, Solution for Infusion, in Comparison With Ringer's Lactate, Solution for Infusion, in a Complex Therapy of Sepsis. Completed NCT03764085 Phase 4 Rheosorbilact®;Ringer lactate
12 Efficacy of Intravenous 'L-ornithine L-aspartate' in Reversal of Overt Acute Hepatic Encephalopathy in Patients With Liver Cirrhosis: a Prospective, Randomized, Double-blind, Placebo Controlled Trial Completed NCT01722578 Phase 4 L-ornithine L-aspartate;Placebo
13 Open-label, Randomized, Controlled, With Blind Assessor, Study to Assess Efficacy and Safety of Rheosorbilact®, Solution for Infusion ("Yuria-Pharm"), in Comparison With Ringer's Lactate,Solution for Infusion, in a Complex Therapy of Burns Recruiting NCT04152096 Phase 4 Rheosorbilact®;Ringer lactate
14 Comparison of Plasmalyte 148® and Saline for Fluid Resuscitation and Intravenous Fluid Therapy in Critically Ill Adults Recruiting NCT02721654 Phase 4 Plasma-Lyte 148®;0.9% sodium chloride
15 Effect of Angiotensin Receptor Blockers on Periodic Breathing During Sleep in Hypoxia Active, not recruiting NCT03335904 Phase 4 Losartan;Placebo
16 Effect of Servo-Ventilation on CO2 Regulation and Heart Rate Variability Not yet recruiting NCT03890939 Phase 4
17 Randomized, Multicenter Cross-over Study in Investigating the Effect of Bicarbonate-based Solutions (Physioneal 35 vs. 40) on Protein Metabolism in Children and Adolescents on Chronic Peritoneal Dialysis Terminated NCT00776191 Phase 4 Physioneal 35;Physioneal 40
18 Salt Replacement for Metabolic Alkalosis in Acute Exacerbations of Cystic Fibrosis Unknown status NCT00163852 Phase 2, Phase 3 Normal saline IV, salt tablets
19 Comparative Analysis Between Ringer's Lactate vs Acetate Containing Balanced Crystalloid Solution (Plasma Lyte-A) as Cardiopulmonary Bypass Prime Unknown status NCT03043131 Phase 3 Plasmalyte A;Ringer Lactate
20 Effects of Acetazolamide on the Duration of Mechanical Ventilation in Patients With Metabolic Alkalosis. Phase III Multicenter Double-blinded Clinical Trial. Completed NCT01499485 Phase 3 Acetazolamide;Placebo
21 Chronic vs. Acute Ingestion of Sodium Citrate: a Randomised Placebo Controlled Cross-over Trial for Swimming a 200 Metres in Well-trained Swimmers Age 13-17 Completed NCT01835912 Phase 3
22 Phase III Study of Furosemide Continuous Infusion Versus Ethacrynic Acid Continuous Infusion in Children Undergoing Cardiac Surgery: Randomized Double Blind Controlled Clinical Trial Completed NCT01628731 Phase 3 furosemide;ethacrynic acid
23 Quetiapine Treatment for Symptoms Associated With Borderline Personality Disorder Completed NCT00122070 Phase 3 Quetiapine Fumarate
24 An Investigator-initiated, Pragmatic, Registry-based, Multi-centre, Double-blind, Randomised Controlled Trial Evaluating the Effect of Plasmalyte Versus 0.9% Saline on Early Kidney Transplant Function in Deceased Donor Kidney Transplantation Recruiting NCT03829488 Phase 3 Plasma-Lyte 148 (approx. pH 7.4) IV Infusion;0.9% SODIUM CHLORIDE 9g/L injection BP
25 Carbon Dioxide (Carbogen) for the Treatment of Febrile Seizures Terminated NCT01370044 Phase 2, Phase 3 Carbogen;Placebo
26 Magnesium Supplements In The Treatment Of Pseudoxanthoma Elasticum (PXE) Completed NCT01525875 Phase 2 Magnesium Oxide;Placebo
27 A Randomised, Double Blind, Placebo Controlled Pilot Study of the Effect of Sodium Bicarbonate on Postoperative Renal Function and Oxidative Stress in Patients Undergoing Elective Cardiopulmonary Bypass. Completed NCT00334191 Phase 2 Sodium Bicarbonate;Placebo
28 Functional Sympatholysis and Exercise Intolerance in Chronic Kidney Disease Suspended NCT02411773 Phase 2 Sodium Bicarbonate;Placebo
29 Chronic Oral Bicarbonate Feasibility Study Completed NCT02531919 Phase 1 Sodium Bicarbonate
30 Sickness Evaluation at Altitude With Acetazolamide at Relative Doses Completed NCT03828474 Phase 1 Acetazolamide Pill
31 Combining Intraoperative Radiotherapy With Kyphoplasty for Treatment of Spinal Metastases Recruiting NCT02480036 Phase 1
32 A Phase I/II Study of Oral Bicarbonate as Adjuvant for Pain Reduction in Patients With Tumor Related Pain Terminated NCT01846429 Phase 1 Sodium Bicarbonate
33 Acetazolamide Facilitates Ventilator Weaning Multicenter, Prospective, Double Blinded, Randomised Controlled Trial Unknown status NCT01131377 acetazolamide;Saline
34 Effects of Pregnancy on the Physico-chemical Characteristics of Cerebrospinal Acid-base Equilibrium Unknown status NCT03496311
35 Beta-alanine Supplementation and Its Effects on Performance, Muscle Carnosine Content and Safety in Athletes With Spinal-cord Injury Unknown status NCT02604927
36 Investigation of the Respiratory Physiology of Children With and Without Febrile Seizures During Febrile Illness. Unknown status NCT01906619
37 Prospective Randomized Multicenter Study to Demonstrate the Benefits of Hemodialysis Without Acetate (With Citrate): ABC-treat Study Unknown status NCT03319680
38 Mutation Analysis of 17α-Hydroxylase Unknown status NCT00172510
39 Effect of an Acetate-free Dialysis (Citrate Based) on Parameters of Central Hemodynamics, Dialysis Adequacy, Quality of Life and Immunological Parameters in Chronic Hemodialysis Unknown status NCT02745340
40 Post-operative Outcomes in the Pyloromyotomy Procedure Under Spinal Anesthesia: A Retrospective Study in 100 Cases Unknown status NCT02879292
41 Utility of Mathematically Converted Venous to Arterial Blood Gas for Clinical Monitoring Unknown status NCT03309423
42 A Systematic Metabolic Approach to the Evaluation of Nutrition in Rett Syndrome According to the Cardiorespiratory Phenotype in Dutch Rett Girls Completed NCT00786071
43 CO2 Rebreathing by a Partial Rebreathing Mask as a Treatment of Chronic Idiopathic Hyperventilation - a Pilot Study Completed NCT01575665
44 Changes in Acid-base Variables Induced by Acute Variations in Partial Pressure of Carbon Dioxide in Whole Blood and Isolated Plasma of Septic Critically Ill Patients and Healthy Volunteers: an In-vitro Study Completed NCT03503214
45 Effect of Induced Metabolic Alkalosis by Sodium Bicarbonate Administration on the Ventilatory Response to Exercise in Healthy Adults Completed NCT03057535 Early Phase 1 Sodium Bicarbonate;Sodium Chloride
46 Evaluation of Safety and Efficacy of a Regional Anticoagulation Protocol for Continuous Renal Replacement Therapies. Completed NCT03836742
47 Effect of a Meat Versus Vegetarian Diet in 12 Healthy Volunteers on the Excretion of Alpha-ketoglutarate Measured in 24-hours Urine Completed NCT01880281
48 Clinical Evidence of pH Dependent ß2 Adrenergic Transport Mechanisms in the Airway Completed NCT01216748
49 Apparent Mineralocorticoid Excess Syndrome Natural History Clinical Protocol Completed NCT00474942
50 Citrate Versus Heparin Anticoagulation in Continuous Venovenous Hemofiltration in Critically Ill Patients With Acute Renal Failure: A Randomized Clinical Trial Completed NCT00209378

Search NIH Clinical Center for Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Arginine
Arginine hydrochloride

Cochrane evidence based reviews: alkalosis

Genetic Tests for Hyperuricemia, Pulmonary Hypertension, Renal Failure, and...

Genetic tests related to Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome:

# Genetic test Affiliating Genes
1 Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis 29 SARS2

Anatomical Context for Hyperuricemia, Pulmonary Hypertension, Renal Failure, and...

MalaCards organs/tissues related to Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome:

40
Kidney, Whole Blood, Liver, Spinal Cord, Heart

Publications for Hyperuricemia, Pulmonary Hypertension, Renal Failure, and...

Articles related to Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome:

# Title Authors PMID Year
1
Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome. 6 56 61
21255763 2011
2
Splicing Defect in Mitochondrial Seryl-tRNA Synthetase Gene Causes Progressive Spastic Paresis Instead of HUPRA Syndrome. 61
27279129 2016
3
A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome. 61
24034276 2013
4
Pseudo-Bartter's syndrome in an Egyptian infant with cystic fibrosis mutation N1303K. 54
15357568 2004
5
Placental pathology in fetal bartter syndrome. 54
11815871 2002
6
Physiologic and molecular aspects of the Na+:HCO3- cotransporter in health and disease processes. 54
10652014 2000
7
Cloning, renal distribution, and regulation of the rat Na+-HCO3- cotransporter. 54
9841505 1998
8
Cystic fibrosis presenting with hypokalemia and metabolic alkalosis in a previously healthy adolescent. 54
9048354 1997
9
Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK. 54
8841184 1996
10
Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. 54
8640224 1996

Variations for Hyperuricemia, Pulmonary Hypertension, Renal Failure, and...

ClinVar genetic disease variations for Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome:

6 (show top 50) (show all 63) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SARS2 NM_017827.4(SARS2):c.30G>A (p.Trp10Ter)SNV Pathogenic 215114 rs145754412 19:39421347-39421347 19:38930707-38930707
2 SARS2 NM_017827.4(SARS2):c.1042T>C (p.Phe348Leu)SNV Pathogenic 242874 rs1114167285 19:39408569-39408569 19:38917929-38917929
3 SARS2 NM_017827.4(SARS2):c.1169A>G (p.Asp390Gly)SNV Pathogenic 30982 rs727502784 19:39406946-39406946 19:38916306-38916306
4 SARS2 NM_017827.4(SARS2):c.694C>T (p.Arg232Cys)SNV Likely pathogenic 432690 rs201347156 19:39410467-39410467 19:38919827-38919827
5 SARS2 NM_017827.4(SARS2):c.1315A>T (p.Thr439Ser)SNV Conflicting interpretations of pathogenicity 506542 rs200202461 19:39406709-39406709 19:38916069-38916069
6 SARS2 NM_017827.4(SARS2):c.1317C>T (p.Thr439=)SNV Conflicting interpretations of pathogenicity 559230 rs556892787 19:39406707-39406707 19:38916067-38916067
7 SARS2 NM_017827.4(SARS2):c.777G>A (p.Thr259=)SNV Conflicting interpretations of pathogenicity 669445 19:39409436-39409436 19:38918796-38918796
8 SARS2 NM_017827.4(SARS2):c.248C>T (p.Ser83Leu)SNV Conflicting interpretations of pathogenicity 138961 rs34050897 19:39421129-39421129 19:38930489-38930489
9 SARS2 NM_017827.4(SARS2):c.501G>A (p.Ala167=)SNV Conflicting interpretations of pathogenicity 215109 rs140304897 19:39412200-39412200 19:38921560-38921560
10 SARS2 NM_017827.4(SARS2):c.390G>A (p.Gln130=)SNV Conflicting interpretations of pathogenicity 215107 rs61736057 19:39412881-39412881 19:38922241-38922241
11 SARS2 NM_017827.4(SARS2):c.364-7C>ASNV Conflicting interpretations of pathogenicity 215106 rs528674259 19:39412914-39412914 19:38922274-38922274
12 SARS2 NM_017827.4(SARS2):c.310C>T (p.Arg104Trp)SNV Conflicting interpretations of pathogenicity 215102 rs144760517 19:39416898-39416898 19:38926258-38926258
13 SARS2 NM_017827.4(SARS2):c.91A>G (p.Arg31Gly)SNV Conflicting interpretations of pathogenicity 215104 rs138274440 19:39421286-39421286 19:38930646-38930646
14 SARS2 NM_017827.4(SARS2):c.590-5T>ASNV Conflicting interpretations of pathogenicity 138958 rs370612303 19:39410794-39410794 19:38920154-38920154
15 SARS2 NM_017827.4(SARS2):c.654-11C>GSNV Conflicting interpretations of pathogenicity 329218 rs200300920 19:39410518-39410518 19:38919878-38919878
16 SARS2 NM_017827.4(SARS2):c.589+4G>ASNV Conflicting interpretations of pathogenicity 329219 rs772644235 19:39412028-39412028 19:38921388-38921388
17 SARS2 NM_017827.4(SARS2):c.1347+10G>ASNV Conflicting interpretations of pathogenicity 329210 rs376335678 19:39406667-39406667 19:38916027-38916027
18 SARS2 NM_017827.4(SARS2):c.394-5C>GSNV Uncertain significance 329222 rs886054429 19:39412312-39412312 19:38921672-38921672
19 SARS2 NM_017827.4(SARS2):c.175G>C (p.Asp59His)SNV Uncertain significance 329225 rs886054430 19:39421202-39421202 19:38930562-38930562
20 SARS2 NM_017827.4(SARS2):c.44G>C (p.Arg15Pro)SNV Uncertain significance 329226 rs773524954 19:39421333-39421333 19:38930693-38930693
21 SARS2 NM_033362.3(MRPS12):c.-176T>ASNV Uncertain significance 329229 rs554221329 19:39421482-39421482 19:38930842-38930842
22 SARS2 NM_017827.4(SARS2):c.888G>A (p.Leu296=)SNV Uncertain significance 329216 rs182484523 19:39409090-39409090 19:38918450-38918450
23 SARS2 NM_017827.4(SARS2):c.534+10G>ASNV Uncertain significance 329221 rs531462148 19:39412157-39412157 19:38921517-38921517
24 SARS2 NM_017827.4(SARS2):c.353G>A (p.Arg118Gln)SNV Uncertain significance 329223 rs377601567 19:39416855-39416855 19:38926215-38926215
25 SARS2 NM_017827.3(SARS2):c.*341G>CSNV Uncertain significance 329205 rs374281807 19:39405905-39405905 19:38915265-38915265
26 SARS2 NM_017827.4(SARS2):c.*22C>TSNV Uncertain significance 329208 rs199819134 19:39406224-39406224 19:38915584-38915584
27 SARS2 NM_017827.4(SARS2):c.535-15G>CSNV Uncertain significance 329220 rs886054428 19:39412101-39412101 19:38921461-38921461
28 SARS2 NM_017827.4(SARS2):c.-19G>TSNV Uncertain significance 329228 rs781348902 19:39421395-39421395 19:38930755-38930755
29 SARS2 NM_017827.4(SARS2):c.*140C>TSNV Uncertain significance 329206 rs565577459 19:39406106-39406106 19:38915466-38915466
30 SARS2 NM_017827.4(SARS2):c.*22C>ASNV Uncertain significance 329209 rs199819134 19:39406224-39406224 19:38915584-38915584
31 SARS2 NM_017827.4(SARS2):c.1321G>A (p.Ala441Thr)SNV Uncertain significance 329211 rs762422369 19:39406703-39406703 19:38916063-38916063
32 SARS2 NM_017827.4(SARS2):c.963-10T>CSNV Uncertain significance 329213 rs749126576 19:39408658-39408658 19:38918018-38918018
33 SARS2 NM_017827.4(SARS2):c.917-4C>TSNV Uncertain significance 329214 rs542117712 19:39408783-39408783 19:38918143-38918143
34 SARS2 NM_017827.4(SARS2):c.758G>A (p.Arg253Gln)SNV Uncertain significance 329217 rs185053576 19:39410403-39410403 19:38919763-38919763
35 SARS2 NM_017827.4(SARS2):c.*250A>GSNV Uncertain significance 893011 19:39405996-39405996 19:38915356-38915356
36 SARS2 NM_017827.4(SARS2):c.*224C>TSNV Uncertain significance 893012 19:39406022-39406022 19:38915382-38915382
37 SARS2 NM_017827.4(SARS2):c.*131C>TSNV Uncertain significance 893231 19:39406115-39406115 19:38915475-38915475
38 SARS2 NM_017827.4(SARS2):c.1481C>T (p.Thr494Ile)SNV Uncertain significance 894083 19:39406322-39406322 19:38915682-38915682
39 SARS2 NM_017827.4(SARS2):c.1428C>T (p.Leu476=)SNV Uncertain significance 894084 19:39406375-39406375 19:38915735-38915735
40 SARS2 NM_017827.4(SARS2):c.1404C>A (p.Asn468Lys)SNV Uncertain significance 894085 19:39406490-39406490 19:38915850-38915850
41 SARS2 NM_017827.4(SARS2):c.1292G>A (p.Arg431His)SNV Uncertain significance 894086 19:39406732-39406732 19:38916092-38916092
42 SARS2 NM_017827.4(SARS2):c.900G>A (p.Ala300=)SNV Uncertain significance 894473 19:39409078-39409078 19:38918438-38918438
43 SARS2 NM_017827.4(SARS2):c.877G>A (p.Asp293Asn)SNV Uncertain significance 894474 19:39409101-39409101 19:38918461-38918461
44 SARS2 NM_017827.4(SARS2):c.862C>T (p.Pro288Ser)SNV Uncertain significance 894475 19:39409116-39409116 19:38918476-38918476
45 SARS2 NM_017827.4(SARS2):c.794G>C (p.Arg265Pro)SNV Uncertain significance 893051 19:39409419-39409419 19:38918779-38918779
46 SARS2 NM_017827.4(SARS2):c.679C>T (p.Arg227Trp)SNV Uncertain significance 893053 19:39410482-39410482 19:38919842-38919842
47 SARS2 NM_017827.4(SARS2):c.448G>A (p.Val150Ile)SNV Uncertain significance 893260 19:39412253-39412253 19:38921613-38921613
48 SARS2 NM_017827.4(SARS2):c.373G>A (p.Asp125Asn)SNV Uncertain significance 893261 19:39412898-39412898 19:38922258-38922258
49 SARS2 NM_017827.4(SARS2):c.315C>G (p.Ser105Arg)SNV Uncertain significance 894118 19:39416893-39416893 19:38926253-38926253
50 SARS2 NM_017827.4(SARS2):c.249G>A (p.Ser83=)SNV Uncertain significance 894119 19:39421128-39421128 19:38930488-38930488

UniProtKB/Swiss-Prot genetic disease variations for Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 SARS2 p.Asp390Gly VAR_065820 rs727502784

Expression for Hyperuricemia, Pulmonary Hypertension, Renal Failure, and...

Search GEO for disease gene expression data for Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome.

Pathways for Hyperuricemia, Pulmonary Hypertension, Renal Failure, and...

GO Terms for Hyperuricemia, Pulmonary Hypertension, Renal Failure, and...

Cellular components related to Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell GO:0005623 8.8 SLC4A4 SLC12A1 CFTR

Biological processes related to Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.43 SLC4A4 SLC12A1 CFTR
2 sodium ion transport GO:0006814 9.37 SLC4A4 SLC12A1
3 chloride transmembrane transport GO:1902476 9.32 SLC12A1 CFTR
4 sodium ion transmembrane transport GO:0035725 9.16 SLC4A4 SLC12A1
5 transmembrane transport GO:0055085 9.13 SLC4A4 SLC12A1 CFTR
6 bicarbonate transport GO:0015701 8.62 SLC4A4 CFTR

Molecular functions related to Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 symporter activity GO:0015293 8.62 SLC4A4 SLC12A1

Sources for Hyperuricemia, Pulmonary Hypertension, Renal Failure, and...

3 CDC
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