HUPRAS
MCID: HYP815
MIFTS: 59

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

Categories: Endocrine diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases, Respiratory diseases
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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 73 71
Hupra Syndrome 57 58 73 75
Alkalosis 71 31 33
Hyperuricemia, Pulmonary Hypertension, Renal Failure, Alkalosis Syndrome 28 5
Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis 57 38
Hupras 57 73
Hyperuricemia-Pulmonary Hypertension-Renal Failure-Alkalosis Syndrome 58
Alkalosis Nos 33

Characteristics:


Inheritance:

Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome: Autosomal recessive 57
Hyperuricemia-Pulmonary Hypertension-Renal Failure-Alkalosis Syndrome: Autosomal recessive 58

Prevelance:

Hyperuricemia-Pulmonary Hypertension-Renal Failure-Alkalosis Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Hyperuricemia-Pulmonary Hypertension-Renal Failure-Alkalosis Syndrome: Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset in infancy
fatal before age 2 years
four patients have been reported from pakistan (as of march 2011)


Classifications:

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


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

Orphanet: 58 Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome is a rare, genetic, mitochondrial disease characterized by early-onset progressive renal failure, manifesting with hyperuricemia, hyponatremia, hypomagnesemia, hypochloremic metabolic alkalosis, elevated BUN and polyuria, associated with systemic manifestations which include pulmonary hypertension, failure to thrive, global developmental delay, hypotonia and ventricular hypertrophy. Additional features include prematurity, elevated serum lactate, diabetes mellitus and, in some, pancytopenia.

MalaCards based summary: Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome, also known as hupra syndrome, is related to liddle syndrome 1 and hypokalemia, 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 inorganic cations/anions and amino acids/oligopeptides and Disorders of transmembrane transporters. The drugs Indomethacin and Acetazolamide have been mentioned in the context of this disorder. Affiliated tissues include whole blood, kidney and heart, and related phenotypes are failure to thrive and diabetes mellitus

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 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 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.

Wikipedia: 75 HUPRA syndrome is a rare syndrome that was first described in 2010 in two infants of Palestinian origin... more...

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 323)
# Related Disease Score Top Affiliating Genes
1 liddle syndrome 1 31.6 SLC12A1 CFTR
2 hypokalemia 30.9 SLC12A1 CFTR
3 renal tubular acidosis 29.8 SLC4A4 SLC12A1
4 ileus 29.2 SLC4A4 CFTR
5 autosomal dominant polycystic kidney disease 28.9 SLC12A1 CFTR
6 bartter syndrome, type 1, antenatal 11.5
7 bartter syndrome, type 2, antenatal 11.5
8 bartter disease 11.4
9 bartter syndrome, type 4a, neonatal, with sensorineural deafness 11.4
10 bartter syndrome, type 3 11.2
11 gitelman syndrome 11.2
12 apparent mineralocorticoid excess 11.1
13 seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance 11.1
14 congenital chloride diarrhea 11.1
15 bartter syndrome, type 4b, neonatal, with sensorineural deafness 11.0
16 conn's syndrome 11.0
17 hypocalcemia, autosomal dominant 1 11.0
18 bartter syndrome, type 5, antenatal, transient 11.0
19 carbonic anhydrase va deficiency, hyperammonemia due to 11.0
20 glucocorticoid resistance, generalized 11.0
21 liddle syndrome 3 11.0
22 carbonic anhydrase va deficiency 11.0
23 hypokalemic alkalosis, familial, with specific renal tubulopathy 11.0
24 diarrhea 1, secretory chloride, congenital 10.9
25 hyperaldosteronism, familial, type i 10.9
26 argininemia 10.9
27 argininosuccinic aciduria 10.9
28 carbamoyl phosphate synthetase i deficiency, hyperammonemia due to 10.9
29 ornithine transcarbamylase deficiency, hyperammonemia due to 10.9
30 hyperaldosteronism, familial, type ii 10.9
31 liddle syndrome 2 10.9
32 kidney tubulopathy-dilated cardiomyopathy syndrome 10.9
33 metabolic acidosis 10.8
34 cystic fibrosis 10.5
35 diarrhea 10.4
36 respiratory failure 10.4
37 pyloric stenosis 10.3
38 pulmonary hypertension 10.3
39 renal hypertension 10.3
40 hyperuricemia 10.3
41 pulmonary disease, chronic obstructive 10.2
42 peptic ulcer disease 10.2
43 visual epilepsy 10.2
44 hypertrophic pyloric stenosis 10.2
45 acute kidney failure 10.2
46 lactic acidosis 10.2
47 hyperparathyroidism 10.2
48 mitochondrial disease 10.1
49 ocular motor apraxia 10.1
50 cardiac arrest 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:

30 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 30 HP:0001508
2 diabetes mellitus 30 HP:0000819
3 proteinuria 30 HP:0000093
4 anemia 30 HP:0001903
5 hyperuricemia 30 HP:0002149
6 thrombocytopenia 30 HP:0001873
7 hyponatremia 30 HP:0002902
8 pulmonary arterial hypertension 30 HP:0002092
9 premature birth 30 HP:0001622
10 respiratory failure 30 HP:0002878
11 feeding difficulties 30 HP:0011968
12 generalized hypotonia 30 HP:0001290
13 leukopenia 30 HP:0001882
14 chronic kidney disease 30 HP:0012622
15 hypomagnesemia 30 HP:0002917
16 renal salt wasting 30 HP:0000127
17 type 2 muscle fiber atrophy 30 HP:0003554
18 hyperechogenic kidneys 30 HP:0004719
19 polyuria 30 HP:0000103
20 hypochloremic metabolic alkalosis 30 HP:0005977

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Growth Other:
failure to thrive

Muscle Soft Tissue:
hypotonia
type 2 fiber atrophy
variation in fiber size seen on muscle biopsy
cox deficiency
enlarged mitochondria
more
Hematology:
anemia
thrombocytopenia
leukopenia

Abdomen Gastrointestinal:
feeding difficulties

Metabolic Features:
hypochloremic metabolic alkalosis

Cardiovascular Vascular:
primary pulmonary hypertension

Endocrine Features:
diabetes mellitus

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
Prenatal Manifestations Delivery:
premature delivery

Neurologic Central Nervous System:
globally delayed development

Clinical features from OMIM®:

613845 (Updated 08-Dec-2022)

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 32)
# 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, 1424-27-7 1986
3 Analgesics Phase 4
4 Antirheumatic Agents Phase 4
5 Cyclooxygenase Inhibitors Phase 4
6 Anti-Inflammatory Agents, Non-Steroidal Phase 4
7 Analgesics, Non-Narcotic Phase 4
8 Anti-Inflammatory Agents Phase 4
9 Tocolytic Agents Phase 4
10 Carbonic Anhydrase Inhibitors Phase 4
11 Anticonvulsants Phase 4
12 diuretics Phase 4
13
Sodium citrate Approved, Investigational Phase 3 68-04-2 23431961
14
Citric acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
15 Calcium, Dietary Phase 3
16 Anticoagulants Phase 3
17 Citrate Phase 3
18 Chelating Agents Phase 3
19
Calcium Nutraceutical Phase 3 7440-70-2 271
20
Progesterone Approved, Vet_approved 57-83-0 5994
21
Triamcinolone Approved, Vet_approved 124-94-7 31307
22
Calcium carbonate Approved, Investigational 471-34-1
23 Arginine Vasopressin
24 Anesthetics
25
Triamcinolone hexacetonide
26
Triamcinolone diacetate
27
Triamcinolone Acetonide 6436
28 Anti-Ulcer Agents
29 Hormones
30 Antacids
31 Gastrointestinal Agents
32 Chrysarobin

Interventional clinical trials:

(show all 19)
# 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 Salt Replacement for Metabolic Alkalosis in Acute Exacerbations of Cystic Fibrosis Unknown status NCT00163852 Phase 2, Phase 3 Normal saline IV, salt tablets
5 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
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 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. Unknown status NCT03966664
8 Effects of Pregnancy on the Physico-chemical Characteristics of Cerebrospinal Acid-base Equilibrium Unknown status NCT03496311
9 Acetazolamide (AZ) for Management of Refractory Hypokalemia Metabolic Alkalosis in Bartter Syndrome Unknown status NCT03847571 Acetazolamide
10 Utility of Mathematically Converted Venous to Arterial Blood Gas for Clinical Monitoring Unknown status NCT03309423
11 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 Unknown status NCT03837886
12 Acetazolamide Facilitates Ventilator Weaning Multicenter, Prospective, Double Blinded, Randomised Controlled Trial Unknown status NCT01131377 acetazolamide;Saline
13 Evaluation of Respiratory Function in People With Fibromyalgia Completed NCT04098731
14 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
15 CO2 Rebreathing by a Partial Rebreathing Mask as a Treatment of Chronic Idiopathic Hyperventilation - a Pilot Study Completed NCT01575665
16 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
17 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
18 ALCALOTIC Study: Metabolic Alcalosis in Decompensated Heart Failure: Prevalence and Influence on Prognosis Completed NCT04740242
19 Frequency of Respiratory Acidosis and Alkalosis in the Emergency and Intensive Care Department of the IUCPQ-UL. Potential Impact of the Use of the Application VentilO Not yet recruiting NCT05587686

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

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, Alkalosis Syndrome 28 SARS2

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

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

MalaCards : Whole Blood, Kidney, Heart, Bone Marrow, Smooth Muscle, Skeletal Muscle, Brain
ODiseA: Blood And Bone Marrow

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

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

(show top 50) (show all 6016)
# Title Authors PMID Year
1
A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome. 62 57 5
24034276 2013
2
Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome. 62 57 5
21255763 2011
3
Pseudo-Bartter's syndrome in an Egyptian infant with cystic fibrosis mutation N1303K. 53 62
15357568 2004
4
Placental pathology in fetal bartter syndrome. 53 62
11815871 2002
5
Physiologic and molecular aspects of the Na+:HCO3- cotransporter in health and disease processes. 53 62
10652014 2000
6
Cloning, renal distribution, and regulation of the rat Na+-HCO3- cotransporter. 53 62
9841505 1998
7
Cystic fibrosis presenting with hypokalemia and metabolic alkalosis in a previously healthy adolescent. 53 62
9048354 1997
8
Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK. 53 62
8841184 1996
9
Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. 53 62
8640224 1996
10
Development of algorithm for diagnosis of cystic fibrosis in absence of sweat chloride testing in resource-limited setting. 62
36062940 2022
11
A difficult case of hyponatremic and hypokalemic metabolic alkalosis: Answers. 62
35579758 2022
12
A difficult case of hyponatremic and hypokalemic metabolic alkalosis: Questions. 62
35579759 2022
13
Comparison of different modalities of continuous renal replacement therapy with regional sodium citrate anticoagulation in paediatric patients. 62
35903018 2022
14
Changing Trend of Risk Factors of Mucormycosis Including Diabetes, Acidosis, and Serum Iron in the Second Wave of COVID-19. 62
36090200 2022
15
Regional citrate versus heparin anticoagulation for continuous renal replacement therapy in critically ill patients: A meta-analysis of randomized controlled trials. 62
35385216 2022
16
How the green crab Carcinus maenas copes physiologically with a range of salinities. 62
36040508 2022
17
Hypokalaemia - an active contributor to hepatic encephalopathy? 62
36326977 2022
18
Fish feeds supplemented with calcium-based buffering minerals decrease stomach acidity, increase the blood alkaline tide and cost more to digest. 62
36323724 2022
19
Heat stress of gilts around farrowing causes oxygen insufficiency in the umbilical cord and reduces piglet survival. 62
36368264 2022
20
Feasibility of a nasal breathing training during pulmonary rehabilitation. A pilot randomized controlled study. 62
36372120 2022
21
Acid-base and hematological regulation in chicken embryos during internal progressive hypercapnic hypoxia. 62
36402363 2022
22
Cerebrospinal fluid and arterial acid-base equilibria in spontaneously breathing third-trimester pregnant women. 62
36096944 2022
23
The association between acid-base status and clinical outcome in critically ill COVID-19 patients admitted to intensive care unit with an emphasis on high anion gap metabolic acidosis. 62
36220779 2022
24
Metabolic alkalosis‑an adverse effect of baking soda misuse: A case report and literature review. 62
36168420 2022
25
Degradation of hydrogel beads for the detection of serum bicarbonate levels for the diagnosis of metabolic alkalosis at the point of care. 62
36254668 2022
26
Analysis of Electrolyte Abnormalities in Adolescents and Adults and Subsequent Diagnosis of an Eating Disorder. 62
36346630 2022
27
Simple Scoring System that Predicts the Need for Surgical Intervention in Infants with Necrotizing Enterocolitis. 62
36400576 2022
28
Clinical Course and Prognosis of Tubulopathies Characterized by Metabolic Alkalosis in Children. 62
36314956 2022
29
Clinical exome sequencing uncovers an unsuspected diagnosis of Bartter syndrome type 2 in a child with incidentally detected nephrocalcinosis. 62
35195872 2022
30
Challenged Urine Bicarbonate Excretion as a Measure of Cystic Fibrosis Transmembrane Conductance Regulator Function in Cystic Fibrosis. 62
36315944 2022
31
Apparent mineralocorticoid excess: comprehensive overview of molecular genetics. 62
36329487 2022
32
Perioperative hypoxemia and postoperative respiratory events in infants with hypertrophic pyloric stenosis. 62
36417975 2022
33
Hypercalcemia-induced hypokalemic metabolic alkalosis with hypophosphatemia in a multiple myeloma patient: lessons for the clinical nephrologist. 62
36269493 2022
34
Late onset Bartter syndrome: Bartter syndrome type 2 presenting with isolated nephrocalcinosis and high parathyroid hormone levels mimicking primary hyperparathyroidism. 62
35952717 2022
35
Long-Read Sequencing Identifies Novel Pathogenic Intronic Variants in Gitelman Syndrome. 62
36302598 2022
36
Metabolic Alkalosis Pathogenesis, Diagnosis, and Treatment: Core Curriculum 2022. 62
35525634 2022
37
A novel CLCNKB variant in a Chinese family with classic Bartter syndrome and prenatal genetic diagnosis. 62
35913199 2022
38
Tailoring the dialysate bicarbonate eliminates pre-dialysis acidosis and post-dialysis alkalosis. 62
36158145 2022
39
Alkaline-sensitive two-pore domain potassium channels form functional heteromers in pancreatic β-cells. 62
36063992 2022
40
Challenges in diuretic therapy: A case-based discussion. 62
35472337 2022
41
Acid-base homeostasis: a historical inquiry of its origins and conceptual evolution. 62
35092435 2022
42
[Is ASV therapy a positive airway pressure or ventilation therapy? A comparison of acid-base balance per day and under ASV]. 62
36104016 2022
43
Milk-Alkali Syndrome: How Electronic Medical Record Open Notes Helped to Rule Out Cancer. 62
36056538 2022
44
A Comparison of Sodium Citrate and Sodium Bicarbonate Ingestion: Blood Alkalosis and Gastrointestinal Symptoms. 62
36109008 2022
45
Acute Kidney Injury with Severe Metabolic Alkalosis Caused by Habitual Vomiting in an Alcohol Abuser with Pyloric Stenosis. 62
36070937 2022
46
Metabolic alkalosis in peritoneal dialysis - beyond the obvious: Questions. 62
35275277 2022
47
Metabolic alkalosis in peritoneal dialysis - beyond the obvious: Answers. 62
35275278 2022
48
Recurrent metabolic alkalosis following ketone body treatment of adult mitochondrial trifunctional protein deficiency: A case report. 62
36101817 2022
49
The genetic spectrum of Gitelman(-like) syndromes. 62
35894287 2022
50
Tophaceous gout in a young man with Gitelman syndrome: a case report with an overview. 62
36166102 2022

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

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

5 (show top 50) (show all 71)
# 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 rs370842354 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.1347G>A (p.Thr449=) SNV Likely Pathogenic
638611 rs200404654 GRCh37: 19:39406677-39406677
GRCh38: 19:38916037-38916037
5 SARS2 NM_017827.4(SARS2):c.590-5T>A SNV Uncertain Significance
138958 rs370612303 GRCh37: 19:39410794-39410794
GRCh38: 19:38920154-38920154
6 SARS2 NM_017827.4(SARS2):c.310C>T (p.Arg104Trp) SNV Uncertain Significance
215102 rs144760517 GRCh37: 19:39416898-39416898
GRCh38: 19:38926258-38926258
7 SARS2 NM_017827.4(SARS2):c.589+4G>A SNV Uncertain Significance
329219 rs772644235 GRCh37: 19:39412028-39412028
GRCh38: 19:38921388-38921388
8 SARS2 NM_017827.4(SARS2):c.501G>A (p.Ala167=) SNV Uncertain Significance
215109 rs140304897 GRCh37: 19:39412200-39412200
GRCh38: 19:38921560-38921560
9 SARS2 NM_017827.4(SARS2):c.248C>T (p.Ser83Leu) SNV Uncertain Significance
138961 rs34050897 GRCh37: 19:39421129-39421129
GRCh38: 19:38930489-38930489
10 SARS2 NM_017827.4(SARS2):c.820A>T (p.Met274Leu) SNV Uncertain Significance
1033452 rs1974461797 GRCh37: 19:39409158-39409158
GRCh38: 19:38918518-38918518
11 SARS2 NM_017827.4(SARS2):c.963-10T>C SNV Uncertain Significance
329213 rs749126576 GRCh37: 19:39408658-39408658
GRCh38: 19:38918018-38918018
12 SARS2 NM_017827.4(SARS2):c.175G>C (p.Asp59His) SNV Uncertain Significance
329225 rs886054430 GRCh37: 19:39421202-39421202
GRCh38: 19:38930562-38930562
13 SARS2 NM_017827.3(SARS2):c.*341G>C SNV Uncertain Significance
329205 rs374281807 GRCh37: 19:39405905-39405905
GRCh38: 19:38915265-38915265
14 SARS2 NM_017827.4(SARS2):c.364-7C>A SNV Uncertain Significance
215106 rs528674259 GRCh37: 19:39412914-39412914
GRCh38: 19:38922274-38922274
15 SARS2 NM_017827.3(SARS2):c.-106A>T SNV Uncertain Significance
329229 rs554221329 GRCh37: 19:39421482-39421482
GRCh38: 19:38930842-38930842
16 SARS2 NM_017827.4(SARS2):c.654-11C>G SNV Uncertain Significance
329218 rs200300920 GRCh37: 19:39410518-39410518
GRCh38: 19:38919878-38919878
17 SARS2 NM_017827.4(SARS2):c.1347+10G>A SNV Uncertain Significance
329210 rs376335678 GRCh37: 19:39406667-39406667
GRCh38: 19:38916027-38916027
18 SARS2 NM_017827.4(SARS2):c.390G>A (p.Gln130=) SNV Uncertain Significance
215107 rs61736057 GRCh37: 19:39412881-39412881
GRCh38: 19:38922241-38922241
19 SARS2 NM_017827.4(SARS2):c.1317C>T (p.Thr439=) SNV Uncertain Significance
559230 rs556892787 GRCh37: 19:39406707-39406707
GRCh38: 19:38916067-38916067
20 SARS2 NM_017827.4(SARS2):c.1315A>T (p.Thr439Ser) SNV Uncertain Significance
506542 rs200202461 GRCh37: 19:39406709-39406709
GRCh38: 19:38916069-38916069
21 SARS2 NM_017827.4(SARS2):c.888G>A (p.Leu296=) SNV Uncertain Significance
329216 rs182484523 GRCh37: 19:39409090-39409090
GRCh38: 19:38918450-38918450
22 SARS2 NM_017827.4(SARS2):c.534+10G>A SNV Uncertain Significance
329221 rs531462148 GRCh37: 19:39412157-39412157
GRCh38: 19:38921517-38921517
23 SARS2 NM_017827.4(SARS2):c.*22C>T SNV Uncertain Significance
329208 rs199819134 GRCh37: 19:39406224-39406224
GRCh38: 19:38915584-38915584
24 SARS2 NM_017827.4(SARS2):c.1321G>A (p.Ala441Thr) SNV Uncertain Significance
329211 rs762422369 GRCh37: 19:39406703-39406703
GRCh38: 19:38916063-38916063
25 SARS2 NM_017827.4(SARS2):c.-19G>T SNV Uncertain Significance
329228 rs781348902 GRCh37: 19:39421395-39421395
GRCh38: 19:38930755-38930755
26 SARS2 NM_017827.4(SARS2):c.758G>A (p.Arg253Gln) SNV Uncertain Significance
329217 rs185053576 GRCh37: 19:39410403-39410403
GRCh38: 19:38919763-38919763
27 SARS2 NM_017827.4(SARS2):c.917-4C>T SNV Uncertain Significance
329214 rs542117712 GRCh37: 19:39408783-39408783
GRCh38: 19:38918143-38918143
28 SARS2 NM_017827.4(SARS2):c.*140C>T SNV Uncertain Significance
329206 rs565577459 GRCh37: 19:39406106-39406106
GRCh38: 19:38915466-38915466
29 SARS2 NM_017827.4(SARS2):c.353G>A (p.Arg118Gln) SNV Uncertain Significance
329223 rs377601567 GRCh37: 19:39416855-39416855
GRCh38: 19:38926215-38926215
30 SARS2 NM_017827.4(SARS2):c.*22C>A SNV Uncertain Significance
329209 rs199819134 GRCh37: 19:39406224-39406224
GRCh38: 19:38915584-38915584
31 SARS2 NM_017827.4(SARS2):c.44G>C (p.Arg15Pro) SNV Uncertain Significance
329226 rs773524954 GRCh37: 19:39421333-39421333
GRCh38: 19:38930693-38930693
32 SARS2 NM_017827.4(SARS2):c.535-15G>C SNV Uncertain Significance
329220 rs886054428 GRCh37: 19:39412101-39412101
GRCh38: 19:38921461-38921461
33 SARS2 NM_017827.4(SARS2):c.394-5C>G SNV Uncertain Significance
329222 rs886054429 GRCh37: 19:39412312-39412312
GRCh38: 19:38921672-38921672
34 SARS2 NM_017827.4(SARS2):c.*250A>G SNV Uncertain Significance
893011 rs377325293 GRCh37: 19:39405996-39405996
GRCh38: 19:38915356-38915356
35 SARS2 NM_017827.4(SARS2):c.*224C>T SNV Uncertain Significance
893012 rs763374780 GRCh37: 19:39406022-39406022
GRCh38: 19:38915382-38915382
36 SARS2 NM_017827.4(SARS2):c.794G>C (p.Arg265Pro) SNV Uncertain Significance
893051 rs760416819 GRCh37: 19:39409419-39409419
GRCh38: 19:38918779-38918779
37 SARS2 NM_017827.4(SARS2):c.777G>A (p.Thr259=) SNV Uncertain Significance
669445 rs563299553 GRCh37: 19:39409436-39409436
GRCh38: 19:38918796-38918796
38 SARS2 NM_017827.4(SARS2):c.759+4T>C SNV Uncertain Significance
893052 rs749164566 GRCh37: 19:39410398-39410398
GRCh38: 19:38919758-38919758
39 SARS2 NM_017827.4(SARS2):c.679C>T (p.Arg227Trp) SNV Uncertain Significance
893053 rs761305168 GRCh37: 19:39410482-39410482
GRCh38: 19:38919842-38919842
40 SARS2 NM_017827.4(SARS2):c.*131C>T SNV Uncertain Significance
893231 rs558549222 GRCh37: 19:39406115-39406115
GRCh38: 19:38915475-38915475
41 SARS2 NM_017827.4(SARS2):c.448G>A (p.Val150Ile) SNV Uncertain Significance
893260 rs143847153 GRCh37: 19:39412253-39412253
GRCh38: 19:38921613-38921613
42 SARS2 NM_017827.4(SARS2):c.373G>A (p.Asp125Asn) SNV Uncertain Significance
893261 rs771968331 GRCh37: 19:39412898-39412898
GRCh38: 19:38922258-38922258
43 SARS2 NM_017827.4(SARS2):c.1481C>T (p.Thr494Ile) SNV Uncertain Significance
894083 rs138608193 GRCh37: 19:39406322-39406322
GRCh38: 19:38915682-38915682
44 SARS2 NM_017827.4(SARS2):c.1428C>T (p.Leu476=) SNV Uncertain Significance
894084 rs372552234 GRCh37: 19:39406375-39406375
GRCh38: 19:38915735-38915735
45 SARS2 NM_017827.4(SARS2):c.1404C>A (p.Asn468Lys) SNV Uncertain Significance
894085 rs369183237 GRCh37: 19:39406490-39406490
GRCh38: 19:38915850-38915850
46 SARS2 NM_017827.4(SARS2):c.1292G>A (p.Arg431His) SNV Uncertain Significance
894086 rs146193366 GRCh37: 19:39406732-39406732
GRCh38: 19:38916092-38916092
47 SARS2 NM_017827.4(SARS2):c.315C>G (p.Ser105Arg) SNV Uncertain Significance
894118 rs1300533578 GRCh37: 19:39416893-39416893
GRCh38: 19:38926253-38926253
48 SARS2 NM_017827.4(SARS2):c.249G>A (p.Ser83=) SNV Uncertain Significance
894119 rs775798501 GRCh37: 19:39421128-39421128
GRCh38: 19:38930488-38930488
49 SARS2 NM_017827.4(SARS2):c.230G>T (p.Arg77Leu) SNV Uncertain Significance
894120 rs902727059 GRCh37: 19:39421147-39421147
GRCh38: 19:38930507-38930507
50 SARS2 NM_017827.4(SARS2):c.900G>A (p.Ala300=) SNV Uncertain Significance
894473 rs144529043 GRCh37: 19:39409078-39409078
GRCh38: 19:38918438-38918438

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...

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.27 SLC4A4 SLC12A1 CFTR
2
Show member pathways
11.24 SLC4A4 SLC12A1 CFTR

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 transmembrane transport GO:0035725 9.67 SLC4A4 SLC12A1
2 chloride transmembrane transport GO:1902476 9.56 SLC12A1 CFTR
3 transmembrane transport GO:0055085 9.55 SLC4A4 SLC12A1 CFTR
4 sodium ion transport GO:0006814 9.5 SLC4A4 SLC12A1
5 monoatomic ion transport GO:0006811 9.26 SLC4A4 SLC12A1 CFTR
6 bicarbonate transport GO:0015701 8.92 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 9.13 SLC4A4 SLC12A1
2 symporter activity GO:0015293 8.8 SLC4A4 SLC12A1

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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