HUPRAS
MCID: HYP815
MIFTS: 52

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 57 72 70
Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis 57 29 13 6 39
Hupra Syndrome 57 58 72 36
Alkalosis 44 70 32
Hupras 57 72
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®:

57 (Updated 05-Apr-2021)
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® : 57 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) (Updated 05-Apr-2021)

MalaCards based summary : Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome, also known as hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, is related to bartter disease and liddle syndrome 1, 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 Aminoacyl-tRNA biosynthesis and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. The drugs Indomethacin and Acetazolamide have been mentioned in the context of this disorder. Affiliated tissues include kidney and whole blood, and related phenotypes are failure to thrive and diabetes mellitus

KEGG : 36 HUPRA syndrome is a multisystemic mitochondrial cytopathy of infancy, characterized by hyperuricemia, pulmonary hypertension, renal failure, and alkalosis. It has been reported that mutations in SARS2 encoding the mitochondrial seryl-tRNA synthetase, cause HUPRA syndrome.

UniProtKB/Swiss-Prot : 72 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 287)
# Related Disease Score Top Affiliating Genes
1 bartter disease 31.6 SLC12A1 CFTR
2 liddle syndrome 1 31.5 SLC12A1 CFTR
3 meconium ileus 29.1 SLC4A4 CFTR
4 bartter syndrome, type 1, antenatal 11.4
5 bartter syndrome, type 2, antenatal 11.4
6 bartter syndrome, type 4a, neonatal, with sensorineural deafness 11.3
7 bartter syndrome, type 3 11.2
8 gitelman syndrome 11.1
9 apparent mineralocorticoid excess 11.1
10 seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance 11.1
11 glucocorticoid resistance, generalized 11.1
12 carbonic anhydrase va deficiency, hyperammonemia due to 11.0
13 hypocalcemia, autosomal dominant 1 11.0
14 bartter syndrome type 4 11.0
15 bartter syndrome, type 4b, neonatal, with sensorineural deafness 11.0
16 liddle syndrome 3 11.0
17 carbonic anhydrase va deficiency 11.0
18 hypokalemic alkalosis, familial, with specific renal tubulopathy 11.0
19 congenital chloride diarrhea 10.9
20 diarrhea 1, secretory chloride, congenital 10.9
21 hypoparathyroidism 10.9
22 duodenal atresia 10.8
23 hyperaldosteronism, familial, type i 10.8
24 hypomagnesemia 2, renal 10.8
25 argininemia 10.8
26 argininosuccinic aciduria 10.8
27 carbamoyl phosphate synthetase i deficiency, hyperammonemia due to 10.8
28 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 10.8
29 bartter syndrome, type 5, antenatal, transient 10.8
30 ornithine transcarbamylase deficiency, hyperammonemia due to 10.8
31 hyperaldosteronism, familial, type ii 10.8
32 liddle syndrome 2 10.8
33 hypokalemia 10.8
34 metabolic acidosis 10.8
35 cystic fibrosis 10.5
36 diarrhea 10.4
37 pyloric stenosis 10.3
38 pulmonary hypertension 10.3
39 renal hypertension 10.3
40 hyperuricemia 10.3
41 respiratory failure 10.3
42 peptic ulcer disease 10.2
43 seizure disorder 10.2
44 hypertrophic pyloric stenosis 10.2
45 acute kidney failure 10.2
46 lactic acidosis 10.2
47 ocular motor apraxia 10.1
48 hyperparathyroidism 10.1
49 hypoxia 10.1
50 gastrointestinal ulceration, recurrent, with dysfunctional platelets 10.1

Comorbidity relations with Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome via Phenotypic Disease Network (PDN): (show all 29)


Active Peptic Ulcer Disease Acute Cor Pulmonale
Acute Cystitis Acute Kidney Failure
Anxiety Aortic Valve Disease 1
Bronchitis Cardiac Arrest
Chronic Kidney Disease 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 failure to thrive 31 HP:0001508
2 diabetes mellitus 31 HP:0000819
3 proteinuria 31 HP:0000093
4 anemia 31 HP:0001903
5 hyperuricemia 31 HP:0002149
6 thrombocytopenia 31 HP:0001873
7 hyponatremia 31 HP:0002902
8 pulmonary arterial hypertension 31 HP:0002092
9 premature birth 31 HP:0001622
10 respiratory failure 31 HP:0002878
11 feeding difficulties 31 HP:0011968
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®:

57 (Updated 05-Apr-2021)
Growth Other:
failure to thrive

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

Respiratory:
respiratory failure

Genitourinary Kidneys:
renal salt wasting
hyperechogenic kidneys
polyuria
renal failure, progressive
low fractional excretion of uric acid
more
Metabolic Features:
hypochloremic metabolic alkalosis

Cardiovascular Vascular:
primary pulmonary hypertension

Endocrine Features:
diabetes mellitus

Hematology:
anemia
thrombocytopenia
leukopenia

Abdomen Gastrointestinal:
feeding difficulties

Muscle Soft Tissue:
hypotonia
type 2 fiber atrophy
variation in fiber size seen on muscle biopsy
cox deficiency
enlarged mitochondria
more
Prenatal Manifestations Delivery:
premature delivery

Neurologic Central Nervous System:
globally delayed development

Clinical features from OMIM®:

613845 (Updated 05-Apr-2021)

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 all 41)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Indomethacin Approved, Investigational Phase 4 53-86-1 3715
2
Acetazolamide Approved, Vet_approved Phase 4 59-66-5 1986
3 Analgesics, Non-Narcotic Phase 4
4 Antirheumatic Agents Phase 4
5 Cyclooxygenase Inhibitors Phase 4
6 Anti-Inflammatory Agents Phase 4
7 Tocolytic Agents Phase 4
8 Anti-Inflammatory Agents, Non-Steroidal Phase 4
9 Anticonvulsants Phase 4
10 diuretics Phase 4
11 Carbonic Anhydrase Inhibitors Phase 4
12 Pharmaceutical Solutions Phase 4
13 Ophthalmic Solutions Phase 4
14 Plasma-lyte 148 Phase 4
15
Sodium citrate Approved, Investigational Phase 3 68-04-2
16
Citric acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
17 Citrate Phase 3
18 Anticoagulants Phase 3
19 Chelating Agents Phase 3
20
Acetaminophen Approved Phase 1 103-90-2 1983
21 Analgesics Phase 1
22
Progesterone Approved, Vet_approved 57-83-0 5994
23
Triamcinolone Approved, Vet_approved 124-94-7 31307
24
tannic acid Approved 1401-55-4
25
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
26
Calcium carbonate Approved, Investigational 471-34-1
27 Anesthetics
28 Arginine Vasopressin
29 triamcinolone acetonide
30 Triamcinolone diacetate
31 Triamcinolone hexacetonide
32 Adrenergic Agents
33 Albuterol
34 Soy Bean
35 Dialysis Solutions
36 Calcium, Dietary
37 Hormones
38 Gastrointestinal Agents
39 Antacids
40 Anti-Ulcer Agents
41
Calcium Nutraceutical 7440-70-2 271

Interventional clinical trials:

(show all 27)
# Name Status NCT ID Phase Drugs
1 The Influence of Cerebral Blood Flow and Alkalosis on Neuromuscular Function During Environmental Stress Completed NCT01830335 Phase 4 Indomethacin;Placebo
2 Acetazolamide for Respiratory Failure in Combination With Metabolic Alkalosis Completed NCT00222534 Phase 4 Acetazolamide;Placebo
3 A Randomized Trial to Evaluate Effectiveness of Acetazolamide in COPD Patients Developing Metabolic Alkalosis During Invasive Mechanical Ventilation Completed NCT01627639 Phase 4 Acetazolamide;Placebo
4 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
5 Salt Replacement for Metabolic Alkalosis in Acute Exacerbations of Cystic Fibrosis Unknown status NCT00163852 Phase 2, Phase 3 Normal saline IV, salt tablets
6 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
7 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
8 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 Active, not recruiting NCT03829488 Phase 3 Plasma-Lyte 148 (approx. pH 7.4) IV Infusion;0.9% SODIUM CHLORIDE 9g/L injection BP
9 Functional Sympatholysis and Exercise Intolerance in Chronic Kidney Disease Recruiting NCT02411773 Phase 2 Sodium Bicarbonate;Placebo
10 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
11 Effects of Pregnancy on the Physico-chemical Characteristics of Cerebrospinal Acid-base Equilibrium Unknown status NCT03496311
12 Acetazolamide (AZ) for Management of Refractory Hypokalemia Metabolic Alkalosis in Bartter Syndrome Unknown status NCT03847571 Acetazolamide
13 Acetazolamide Facilitates Ventilator Weaning Multicenter, Prospective, Double Blinded, Randomised Controlled Trial Unknown status NCT01131377 acetazolamide;Saline
14 Utility of Mathematically Converted Venous to Arterial Blood Gas for Clinical Monitoring Unknown status NCT03309423
15 Clinical Evidence of pH Dependent ß2 Adrenergic Transport Mechanisms in the Airway Completed NCT01216748
16 Effect of a Meat Versus Vegetarian Diet in 12 Healthy Volunteers on the Excretion of Alpha-ketoglutarate Measured in 24-hours Urine Completed NCT01880281
17 Evaluation of Safety and Efficacy of a Regional Anticoagulation Protocol for Continuous Renal Replacement Therapies. Completed NCT03836742
18 Transcutaneous Carbon Dioxide Pressure (tcPCO2) Monitoring Vs End-tidal Partial Pressure Carbon Dioxide (PetCO2) Measurement in the Diagnosis of Hyperventilation Syndrome (HVS) (TCvsPETCO2 ) Completed NCT03614806
19 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
20 CO2 Rebreathing by a Partial Rebreathing Mask as a Treatment of Chronic Idiopathic Hyperventilation - a Pilot Study Completed NCT01575665
21 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
22 Determination of Ka of Isolated Plasma and Whole Blood of Critically Ill Patients With Sepsis, Non-septic Patients and Healthy Volunteers: an International, In-vitro Acid-base Study. Recruiting NCT03966664
23 Evaluation of Respiratory Function in People With Fibromyalgia Recruiting NCT04098731
24 Radar-A: A Phase 2 Multi-center Study to Evaluate the Safety and Tolerability of Using Point-of-Care-Guided Manipulation of Dialysate Potassium and Dialysate Bicarbonate to Prevent Hemodialysis-Associated Arrhythmias Recruiting NCT03519347
25 Sodium Bicarbonate for the Treatment of Severe Metabolic Acidosis With Moderate or Severe Acute Kidney Injury in the Critically Ill: a Randomized Clinical Trial Recruiting NCT04010630 Sodium bicarbonate infusion
26 ALCALOTIC Study: Metabolic Alcalosis in Decompensated Heart Failure: Prevalence and Influence on Prognosis Recruiting NCT04740242
27 Sodium Bicarbonate Supplementation Promotes Changes in Performance, Muscle Activity and Strength of Individuals Trained During the Performance of Intermittent and Intense Task? Randomized, Double-blind, Crossover Trial Not yet recruiting NCT03837886

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

Inferred drug relations via UMLS 70 / NDF-RT 51 :


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

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

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

(show all 11)
# Title Authors PMID Year
1
A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome. 61 6 57
24034276 2013
2
Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome. 57 6 61
21255763 2011
3
Novel SARS2 variants identified in a Chinese girl with HUPRA syndrome. 61
33751860 2021
4
Splicing Defect in Mitochondrial Seryl-tRNA Synthetase Gene Causes Progressive Spastic Paresis Instead of HUPRA Syndrome. 61
27279129 2016
5
Pseudo-Bartter's syndrome in an Egyptian infant with cystic fibrosis mutation N1303K. 54
15357568 2004
6
Placental pathology in fetal bartter syndrome. 54
11815871 2002
7
Physiologic and molecular aspects of the Na+:HCO3- cotransporter in health and disease processes. 54
10652014 2000
8
Cloning, renal distribution, and regulation of the rat Na+-HCO3- cotransporter. 54
9841505 1998
9
Cystic fibrosis presenting with hypokalemia and metabolic alkalosis in a previously healthy adolescent. 54
9048354 1997
10
Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK. 54
8841184 1996
11
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 68)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SARS2 NM_017827.4(SARS2):c.1042T>C (p.Phe348Leu) SNV Pathogenic 242874 rs1114167285 GRCh37: 19:39408569-39408569
GRCh38: 19:38917929-38917929
2 SARS2 NM_017827.4(SARS2):c.1205G>A (p.Arg402His) SNV Pathogenic 978825 GRCh37: 19:39406910-39406910
GRCh38: 19:38916270-38916270
3 SARS2 NM_017827.4(SARS2):c.1169A>G (p.Asp390Gly) SNV Pathogenic 30982 rs727502784 GRCh37: 19:39406946-39406946
GRCh38: 19:38916306-38916306
4 SARS2 NM_017827.4(SARS2):c.1030C>T (p.Arg344Ter) SNV Pathogenic 1029489 GRCh37: 19:39408581-39408581
GRCh38: 19:38917941-38917941
5 SARS2 NM_017827.4(SARS2):c.472C>T (p.Gln158Ter) SNV Pathogenic 1033450 GRCh37: 19:39412229-39412229
GRCh38: 19:38921589-38921589
6 SARS2 NM_017827.4(SARS2):c.577_580dup (p.Asp194fs) Duplication Pathogenic 1033451 GRCh37: 19:39412040-39412041
GRCh38: 19:38921400-38921401
7 SARS2 NM_017827.4(SARS2):c.820A>T (p.Met274Leu) SNV Uncertain significance 1033452 GRCh37: 19:39409158-39409158
GRCh38: 19:38918518-38918518
8 SARS2 NM_017827.4(SARS2):c.777G>A (p.Thr259=) SNV Uncertain significance 669445 rs563299553 GRCh37: 19:39409436-39409436
GRCh38: 19:38918796-38918796
9 SARS2 NM_017827.4(SARS2):c.390G>A (p.Gln130=) SNV Uncertain significance 215107 rs61736057 GRCh37: 19:39412881-39412881
GRCh38: 19:38922241-38922241
10 SARS2 NM_017827.4(SARS2):c.1315A>T (p.Thr439Ser) SNV Uncertain significance 506542 rs200202461 GRCh37: 19:39406709-39406709
GRCh38: 19:38916069-38916069
11 SARS2 NM_017827.4(SARS2):c.91A>G (p.Arg31Gly) SNV Uncertain significance 215104 rs138274440 GRCh37: 19:39421286-39421286
GRCh38: 19:38930646-38930646
12 SARS2 NM_017827.4(SARS2):c.888G>A (p.Leu296=) SNV Uncertain significance 329216 rs182484523 GRCh37: 19:39409090-39409090
GRCh38: 19:38918450-38918450
13 SARS2 NM_017827.4(SARS2):c.590-5T>A SNV Uncertain significance 138958 rs370612303 GRCh37: 19:39410794-39410794
GRCh38: 19:38920154-38920154
14 SARS2 NM_017827.4(SARS2):c.310C>T (p.Arg104Trp) SNV Uncertain significance 215102 rs144760517 GRCh37: 19:39416898-39416898
GRCh38: 19:38926258-38926258
15 SARS2 NM_017827.4(SARS2):c.364-7C>A SNV Uncertain significance 215106 rs528674259 GRCh37: 19:39412914-39412914
GRCh38: 19:38922274-38922274
16 SARS2 NM_017827.4(SARS2):c.44G>C (p.Arg15Pro) SNV Uncertain significance 329226 rs773524954 GRCh37: 19:39421333-39421333
GRCh38: 19:38930693-38930693
17 SARS2 NM_017827.4(SARS2):c.535-15G>C SNV Uncertain significance 329220 rs886054428 GRCh37: 19:39412101-39412101
GRCh38: 19:38921461-38921461
18 SARS2 NM_017827.4(SARS2):c.394-5C>G SNV Uncertain significance 329222 rs886054429 GRCh37: 19:39412312-39412312
GRCh38: 19:38921672-38921672
19 SARS2 NM_017827.4(SARS2):c.501G>A (p.Ala167=) SNV Uncertain significance 215109 rs140304897 GRCh37: 19:39412200-39412200
GRCh38: 19:38921560-38921560
20 SARS2 NM_017827.4(SARS2):c.248C>T (p.Ser83Leu) SNV Uncertain significance 138961 rs34050897 GRCh37: 19:39421129-39421129
GRCh38: 19:38930489-38930489
21 SARS2 NM_017827.4(SARS2):c.654-11C>G SNV Uncertain significance 329218 rs200300920 GRCh37: 19:39410518-39410518
GRCh38: 19:38919878-38919878
22 SARS2 NM_017827.4(SARS2):c.963-10T>C SNV Uncertain significance 329213 rs749126576 GRCh37: 19:39408658-39408658
GRCh38: 19:38918018-38918018
23 SARS2 NM_017827.4(SARS2):c.175G>C (p.Asp59His) SNV Uncertain significance 329225 rs886054430 GRCh37: 19:39421202-39421202
GRCh38: 19:38930562-38930562
24 SARS2 NM_017827.4(SARS2):c.1347+10G>A SNV Uncertain significance 329210 rs376335678 GRCh37: 19:39406667-39406667
GRCh38: 19:38916027-38916027
25 SARS2 NM_017827.4(SARS2):c.*250A>G SNV Uncertain significance 893011 GRCh37: 19:39405996-39405996
GRCh38: 19:38915356-38915356
26 SARS2 NM_017827.4(SARS2):c.*224C>T SNV Uncertain significance 893012 GRCh37: 19:39406022-39406022
GRCh38: 19:38915382-38915382
27 SARS2 NM_017827.4(SARS2):c.794G>C (p.Arg265Pro) SNV Uncertain significance 893051 GRCh37: 19:39409419-39409419
GRCh38: 19:38918779-38918779
28 SARS2 NM_017827.4(SARS2):c.759+4T>C SNV Uncertain significance 893052 GRCh37: 19:39410398-39410398
GRCh38: 19:38919758-38919758
29 SARS2 NM_017827.4(SARS2):c.679C>T (p.Arg227Trp) SNV Uncertain significance 893053 GRCh37: 19:39410482-39410482
GRCh38: 19:38919842-38919842
30 SARS2 NM_017827.4(SARS2):c.*131C>T SNV Uncertain significance 893231 GRCh37: 19:39406115-39406115
GRCh38: 19:38915475-38915475
31 SARS2 NM_017827.4(SARS2):c.534+10G>A SNV Uncertain significance 329221 rs531462148 GRCh37: 19:39412157-39412157
GRCh38: 19:38921517-38921517
32 SARS2 NM_017827.3(SARS2):c.*341G>C SNV Uncertain significance 329205 rs374281807 GRCh37: 19:39405905-39405905
GRCh38: 19:38915265-38915265
33 SARS2 NM_017827.4(SARS2):c.*22C>T SNV Uncertain significance 329208 rs199819134 GRCh37: 19:39406224-39406224
GRCh38: 19:38915584-38915584
34 SARS2 NM_017827.4(SARS2):c.1321G>A (p.Ala441Thr) SNV Uncertain significance 329211 rs762422369 GRCh37: 19:39406703-39406703
GRCh38: 19:38916063-38916063
35 SARS2 NM_017827.4(SARS2):c.-19G>T SNV Uncertain significance 329228 rs781348902 GRCh37: 19:39421395-39421395
GRCh38: 19:38930755-38930755
36 SARS2 NM_017827.4(SARS2):c.758G>A (p.Arg253Gln) SNV Uncertain significance 329217 rs185053576 GRCh37: 19:39410403-39410403
GRCh38: 19:38919763-38919763
37 SARS2 NM_017827.4(SARS2):c.917-4C>T SNV Uncertain significance 329214 rs542117712 GRCh37: 19:39408783-39408783
GRCh38: 19:38918143-38918143
38 SARS2 NM_017827.4(SARS2):c.589+4G>A SNV Uncertain significance 329219 rs772644235 GRCh37: 19:39412028-39412028
GRCh38: 19:38921388-38921388
39 SARS2 NM_017827.4(SARS2):c.*140C>T SNV Uncertain significance 329206 rs565577459 GRCh37: 19:39406106-39406106
GRCh38: 19:38915466-38915466
40 SARS2 NM_017827.4(SARS2):c.353G>A (p.Arg118Gln) SNV Uncertain significance 329223 rs377601567 GRCh37: 19:39416855-39416855
GRCh38: 19:38926215-38926215
41 SARS2 NM_033362.3(MRPS12):c.-176T>A SNV Uncertain significance 329229 rs554221329 GRCh37: 19:39421482-39421482
GRCh38: 19:38930842-38930842
42 SARS2 NM_017827.4(SARS2):c.*22C>A SNV Uncertain significance 329209 rs199819134 GRCh37: 19:39406224-39406224
GRCh38: 19:38915584-38915584
43 SARS2 NM_017827.4(SARS2):c.448G>A (p.Val150Ile) SNV Uncertain significance 893260 GRCh37: 19:39412253-39412253
GRCh38: 19:38921613-38921613
44 SARS2 NM_017827.4(SARS2):c.373G>A (p.Asp125Asn) SNV Uncertain significance 893261 GRCh37: 19:39412898-39412898
GRCh38: 19:38922258-38922258
45 SARS2 NM_017827.4(SARS2):c.1481C>T (p.Thr494Ile) SNV Uncertain significance 894083 GRCh37: 19:39406322-39406322
GRCh38: 19:38915682-38915682
46 SARS2 NM_017827.4(SARS2):c.1428C>T (p.Leu476=) SNV Uncertain significance 894084 GRCh37: 19:39406375-39406375
GRCh38: 19:38915735-38915735
47 SARS2 NM_017827.4(SARS2):c.1404C>A (p.Asn468Lys) SNV Uncertain significance 894085 GRCh37: 19:39406490-39406490
GRCh38: 19:38915850-38915850
48 SARS2 NM_017827.4(SARS2):c.1317C>T (p.Thr439=) SNV Uncertain significance 559230 rs556892787 GRCh37: 19:39406707-39406707
GRCh38: 19:38916067-38916067
49 SARS2 NM_017827.4(SARS2):c.1292G>A (p.Arg431His) SNV Uncertain significance 894086 GRCh37: 19:39406732-39406732
GRCh38: 19:38916092-38916092
50 SARS2 NM_017827.4(SARS2):c.315C>G (p.Ser105Arg) SNV Uncertain significance 894118 GRCh37: 19:39416893-39416893
GRCh38: 19:38926253-38926253

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

72
# 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...

Pathways related to Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Aminoacyl-tRNA biosynthesis hsa00970

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

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 sodium ion transport GO:0006814 9.37 SLC4A4 SLC12A1
2 ion transport GO:0006811 9.33 SLC4A4 SLC12A1 CFTR
3 sodium ion transmembrane transport GO:0035725 9.32 SLC4A4 SLC12A1
4 chloride transmembrane transport GO:1902476 9.26 SLC12A1 CFTR
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 transmembrane transporter activity GO:0022857 8.96 SLC4A4 SLC12A1
2 symporter activity GO:0015293 8.62 SLC4A4 SLC12A1

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

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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