Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: HYP815 MIFTS: 39	Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome Categories: Genetic diseases, Metabolic diseases, Nephrological diseases, Respiratory diseases, Rare 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 ⁷⁵ ⁷³

Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis ⁵⁷ ²⁹ ¹³ ⁶ ⁴⁰

Hupra Syndrome ⁵⁷ ⁵⁹ ⁷⁵

Alkalosis ⁴⁴ ⁷³

Hupras ⁵⁷ ⁷⁵

Hyperuricemia-Pulmonary Hypertension-Renal Failure-Alkalosis Syndrome ⁵⁹

Characteristics:

Orphanet epidemiological data:

⁵⁹

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

OMIM:

⁵⁷

Inheritance:
autosomal recessive

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

HPO:

³²

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

Classifications:

MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases
Anatomical: Nephrological diseases Respiratory diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴ ³³

Diseases of the genitourinary system

Renal tubulo-interstitial diseases

Other renal tubulo-interstitial diseases

Other specified renal tubulo-interstitial diseases

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Other disorders of fluid, electrolyte and acid-base balance

Alkalosis

Orphanet: ⁵⁹

Rare renal diseases

Rare respiratory diseases

Inborn errors of metabolism

External Ids:

OMIM ⁵⁷ 613845

Orphanet ⁵⁹ ORPHA363694

ICD10 via Orphanet ³⁴ N15.8

MedGen ⁴² C3151209

MeSH ⁴⁴ D000471 D006976 D033461 more

ICD10 ³³ E87.3

UMLS ⁷³ C3151209 C0002063

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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)

MalaCards based summary : Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome, also known as hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, is related to cystic fibrosis and hypokalemic alkalosis, familial, with specific renal tubulopathy, 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. Affiliated tissues include kidney, and related phenotypes are diabetes mellitus and failure to thrive

UniProtKB/Swiss-Prot : ⁷⁵ 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.

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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 62)

#	Related Disease	Score	Top Affiliating Genes
1	cystic fibrosis	28.4	CFTR SLC4A4
2	hypokalemic alkalosis, familial, with specific renal tubulopathy	11.9
3	bartter disease	11.7
4	bartter syndrome, type 2, antenatal	11.7
5	bartter syndrome, type 1, antenatal	11.7
6	bartter syndrome, type 4a, neonatal, with sensorineural deafness	11.5
7	gitelman syndrome	11.2
8	diarrhea 1, secretory chloride, congenital	11.1
9	congenital chloride diarrhea	11.1
10	liddle syndrome	11.0
11	bartter syndrome, type 3	11.0
12	apparent mineralocorticoid excess	11.0
13	seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance	11.0
14	bartter syndrome, type 4b, neonatal, with sensorineural deafness	10.9
15	carbonic anhydrase va deficiency, hyperammonemia due to	10.9
16	glucocorticoid resistance, generalized	10.9
17	bartter syndrome type 4	10.9
18	hyperaldosteronism, familial, type i	10.7
19	hypomagnesemia 2, renal	10.7
20	argininemia	10.7
21	argininosuccinic aciduria	10.7
22	duodenal atresia	10.7
23	carbamoyl phosphate synthetase i deficiency, hyperammonemia due to	10.7
24	hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	10.7
25	bartter syndrome, type 5, antenatal, transient	10.7
26	ornithine transcarbamylase deficiency, hyperammonemia due to	10.7
27	hypocalcemia, autosomal dominant 1	10.7
28	hyperaldosteronism, familial, type ii	10.7
29	hypoparathyroidism	10.7
30	hyper-reninism	10.7
31	hypokalemia	10.3
32	metabolic acidosis	10.0
33	conn's syndrome	10.0
34	hypertrophic pyloric stenosis	10.0
35	pyloric stenosis	10.0
36	duodenitis	10.0
37	pulmonary hypertension	9.9
38	hyperuricemia	9.9
39	duodenal obstruction	9.9
40	febrile seizures	9.9
41	myeloma, multiple	9.8
42	pendred syndrome	9.8
43	nephrolithiasis	9.8
44	hyperphosphatemia	9.8
45	osteoporosis	9.7
46	porphyria, acute intermittent	9.7
47	lung cancer	9.7
48	focal segmental glomerulosclerosis 1	9.7
49	diabetes mellitus, ketosis-prone	9.7
50	polyglucosan body myopathy 1 with or without immunodeficiency	9.7

Comorbidity relations with Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome via Phenotypic Disease Network (PDN): (show all 31)

Active Peptic Ulcer Disease	Acute Cor Pulmonale
Acute Cystitis	Acute Kidney Failure
Anxiety	Aortic Valve Disease 1
Bronchitis	Cardiac Arrest
Chronic Kidney Failure	Chronic Myocardial Ischemia
Chronic Pulmonary Heart Disease	Decubitus Ulcer
Deficiency Anemia	Esophagitis
Familial Atrial Fibrillation	Heart Disease
Hypertension, Essential	Hypothyroidism
Intermediate Coronary Syndrome	Iron Deficiency Anemia
Ischemic Heart Disease	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:

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

Symptoms via clinical synopsis from OMIM:

⁵⁷

Endocrine Features:
diabetes mellitus

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

Abdomen Gastrointestinal:
feeding difficulties

Genitourinary Kidneys:
renal salt wasting
hyperechogenic kidneys
polyuria
renal failure, progressive
low fractional excretion of uric acid
more

Prenatal Manifestations Delivery:
premature delivery

Metabolic Features:
hypochloremic metabolic alkalosis

Growth Other:
failure to thrive

Hematology:
anemia
thrombocytopenia
leukopenia

Respiratory:
respiratory failure

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

Neurologic Central Nervous System:
globally delayed development

Clinical features from OMIM:

613845

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

³² (show all 20)

#	Description	HPO Source Accession
1	diabetes mellitus ³²	HP:0000819
2	failure to thrive ³²	HP:0001508
3	proteinuria ³²	HP:0000093
4	anemia ³²	HP:0001903
5	hyperuricemia ³²	HP:0002149
6	pulmonary arterial hypertension ³²	HP:0002092
7	feeding difficulties ³²	HP:0011968
8	thrombocytopenia ³²	HP:0001873
9	respiratory failure ³²	HP:0002878
10	hyponatremia ³²	HP:0002902
11	premature birth ³²	HP:0001622
12	renal salt wasting ³²	HP:0000127
13	leukopenia ³²	HP:0001882
14	generalized hypotonia ³²	HP:0001290
15	hypomagnesemia ³²	HP:0002917
16	chronic kidney disease ³²	HP:0012622
17	type 2 muscle fiber atrophy ³²	HP:0003554
18	hyperechogenic kidneys ³²	HP:0004719
19	polyuria ³²	HP:0000103
20	hypochloremic metabolic alkalosis ³²	HP:0005977

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

polyuria

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

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

Inferred drug relations via UMLS ⁷³ / NDF-RT ⁵¹ :

arginine

arginine hydrochloride

Cochrane evidence based reviews: alkalosis

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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

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

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

⁴¹

Kidney

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

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

#	Title	Authors	Year
1	A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome. ( 24034276 )	Rivera H....MartA-nez-AzorA-n F.	2013
2	Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome. ( 21255763 )	Belostotsky R....Frishberg Y.	2011

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

Genes related to Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SARS2	Seryl-TRNA Synthetase 2, Mitochondrial	Protein Coding	1678.72	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	21255763
2	SLC12A1	Solute Carrier Family 12 Member 1	Protein Coding	18.63	Novoseek inferred ⁵⁵ GeneCards inferred via : Novoseek inferred (show sections)	11815871 8640224 8841184
3	SLC4A4	Solute Carrier Family 4 Member 4	Protein Coding	16.16	Novoseek inferred ⁵⁵ GeneCards inferred via : Novoseek inferred (show sections)	9841505 10652014
4	CFTR	Cystic Fibrosis Transmembrane Conductance Regulator	Protein Coding	12.62	Novoseek inferred ⁵⁵ GeneCards inferred via : Novoseek inferred (show sections)	9048354 15357568

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

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

⁷⁵

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

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

⁶

(show top 50) (show all 60)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	SARS2	NM_001145901.1(SARS2): c.1175A> G (p.Asp392Gly)	single nucleotide variant	Pathogenic	rs727502784	GRCh37	Chromosome 19, 39406946: 39406946
2	SARS2	NM_001145901.1(SARS2): c.1175A> G (p.Asp392Gly)	single nucleotide variant	Pathogenic	rs727502784	GRCh38	Chromosome 19, 38916306: 38916306
3	SARS2	NM_017827.3(SARS2): c.501G> A (p.Ala167=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs140304897	GRCh37	Chromosome 19, 39412200: 39412200
4	SARS2	NM_017827.3(SARS2): c.501G> A (p.Ala167=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs140304897	GRCh38	Chromosome 19, 38921560: 38921560
5	SARS2	NM_017827.3(SARS2): c.364-7C> A	single nucleotide variant	Conflicting interpretations of pathogenicity	rs528674259	GRCh38	Chromosome 19, 38922274: 38922274
6	SARS2	NM_017827.3(SARS2): c.364-7C> A	single nucleotide variant	Conflicting interpretations of pathogenicity	rs528674259	GRCh37	Chromosome 19, 39412914: 39412914
7	SARS2	NM_017827.3(SARS2): c.310C> T (p.Arg104Trp)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs144760517	GRCh37	Chromosome 19, 39416898: 39416898
8	SARS2	NM_017827.3(SARS2): c.310C> T (p.Arg104Trp)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs144760517	GRCh38	Chromosome 19, 38926258: 38926258
9	SARS2	NM_001145901.1(SARS2): c.1048T> C (p.Phe350Leu)	single nucleotide variant	Pathogenic	rs1114167285	GRCh38	Chromosome 19, 38917929: 38917929
10	SARS2	NM_001145901.1(SARS2): c.1048T> C (p.Phe350Leu)	single nucleotide variant	Pathogenic	rs1114167285	GRCh37	Chromosome 19, 39408569: 39408569
11	SARS2	NM_017827.3(SARS2): c.*22C> A	single nucleotide variant	Uncertain significance	rs199819134	GRCh37	Chromosome 19, 39406224: 39406224
12	SARS2	NM_017827.3(SARS2): c.*22C> A	single nucleotide variant	Uncertain significance	rs199819134	GRCh38	Chromosome 19, 38915584: 38915584
13	SARS2	NM_017827.3(SARS2): c.1321G> A (p.Ala441Thr)	single nucleotide variant	Uncertain significance	rs762422369	GRCh37	Chromosome 19, 39406703: 39406703
14	SARS2	NM_017827.3(SARS2): c.1321G> A (p.Ala441Thr)	single nucleotide variant	Uncertain significance	rs762422369	GRCh38	Chromosome 19, 38916063: 38916063
15	SARS2	NM_017827.3(SARS2): c.963-10T> C	single nucleotide variant	Uncertain significance	rs749126576	GRCh37	Chromosome 19, 39408658: 39408658
16	SARS2	NM_017827.3(SARS2): c.963-10T> C	single nucleotide variant	Uncertain significance	rs749126576	GRCh38	Chromosome 19, 38918018: 38918018
17	SARS2	NM_017827.3(SARS2): c.917-4C> T	single nucleotide variant	Uncertain significance	rs542117712	GRCh37	Chromosome 19, 39408783: 39408783
18	SARS2	NM_017827.3(SARS2): c.917-4C> T	single nucleotide variant	Uncertain significance	rs542117712	GRCh38	Chromosome 19, 38918143: 38918143
19	SARS2	NM_017827.3(SARS2): c.758G> A (p.Arg253Gln)	single nucleotide variant	Uncertain significance	rs185053576	GRCh38	Chromosome 19, 38919763: 38919763
20	SARS2	NM_017827.3(SARS2): c.758G> A (p.Arg253Gln)	single nucleotide variant	Uncertain significance	rs185053576	GRCh37	Chromosome 19, 39410403: 39410403
21	SARS2	NM_017827.3(SARS2): c.654-11C> G	single nucleotide variant	Conflicting interpretations of pathogenicity	rs200300920	GRCh38	Chromosome 19, 38919878: 38919878
22	SARS2	NM_017827.3(SARS2): c.654-11C> G	single nucleotide variant	Conflicting interpretations of pathogenicity	rs200300920	GRCh37	Chromosome 19, 39410518: 39410518
23	SARS2	NM_017827.3(SARS2): c.*341G> C	single nucleotide variant	Uncertain significance	rs374281807	GRCh37	Chromosome 19, 39405905: 39405905
24	SARS2	NM_017827.3(SARS2): c.*341G> C	single nucleotide variant	Uncertain significance	rs374281807	GRCh38	Chromosome 19, 38915265: 38915265
25	SARS2	NM_017827.3(SARS2): c.*22C> T	single nucleotide variant	Uncertain significance	rs199819134	GRCh37	Chromosome 19, 39406224: 39406224
26	SARS2	NM_017827.3(SARS2): c.*22C> T	single nucleotide variant	Uncertain significance	rs199819134	GRCh38	Chromosome 19, 38915584: 38915584
27	SARS2	NM_017827.3(SARS2): c.535-15G> C	single nucleotide variant	Uncertain significance	rs886054428	GRCh38	Chromosome 19, 38921461: 38921461
28	SARS2	NM_017827.3(SARS2): c.535-15G> C	single nucleotide variant	Uncertain significance	rs886054428	GRCh37	Chromosome 19, 39412101: 39412101
29	SARS2	NM_017827.3(SARS2): c.321G> A (p.Glu107=)	single nucleotide variant	Likely benign	rs11544093	GRCh38	Chromosome 19, 38926247: 38926247
30	SARS2	NM_017827.3(SARS2): c.321G> A (p.Glu107=)	single nucleotide variant	Likely benign	rs11544093	GRCh37	Chromosome 19, 39416887: 39416887
31	SARS2	NM_017827.3(SARS2): c.-19G> T	single nucleotide variant	Uncertain significance	rs781348902	GRCh38	Chromosome 19, 38930755: 38930755
32	SARS2	NM_017827.3(SARS2): c.-19G> T	single nucleotide variant	Uncertain significance	rs781348902	GRCh37	Chromosome 19, 39421395: 39421395
33	SARS2	NM_017827.3(SARS2): c.*140C> T	single nucleotide variant	Uncertain significance	rs565577459	GRCh37	Chromosome 19, 39406106: 39406106
34	SARS2	NM_017827.3(SARS2): c.*140C> T	single nucleotide variant	Uncertain significance	rs565577459	GRCh38	Chromosome 19, 38915466: 38915466
35	SARS2	NM_017827.3(SARS2): c.1347+10G> A	single nucleotide variant	Conflicting interpretations of pathogenicity	rs376335678	GRCh37	Chromosome 19, 39406667: 39406667
36	SARS2	NM_017827.3(SARS2): c.1347+10G> A	single nucleotide variant	Conflicting interpretations of pathogenicity	rs376335678	GRCh38	Chromosome 19, 38916027: 38916027
37	SARS2	NM_017827.3(SARS2): c.1160+4T> C	single nucleotide variant	Benign	rs7508411	GRCh37	Chromosome 19, 39408360: 39408360
38	SARS2	NM_017827.3(SARS2): c.1160+4T> C	single nucleotide variant	Benign	rs7508411	GRCh38	Chromosome 19, 38917720: 38917720
39	SARS2	NM_017827.3(SARS2): c.888G> A (p.Leu296=)	single nucleotide variant	Uncertain significance	rs182484523	GRCh37	Chromosome 19, 39409090: 39409090
40	SARS2	NM_017827.3(SARS2): c.888G> A (p.Leu296=)	single nucleotide variant	Uncertain significance	rs182484523	GRCh38	Chromosome 19, 38918450: 38918450
41	SARS2	NM_017827.3(SARS2): c.534+10G> A	single nucleotide variant	Uncertain significance	rs531462148	GRCh38	Chromosome 19, 38921517: 38921517
42	SARS2	NM_017827.3(SARS2): c.534+10G> A	single nucleotide variant	Uncertain significance	rs531462148	GRCh37	Chromosome 19, 39412157: 39412157
43	SARS2	NM_017827.3(SARS2): c.353G> A (p.Arg118Gln)	single nucleotide variant	Uncertain significance	rs377601567	GRCh38	Chromosome 19, 38926215: 38926215
44	SARS2	NM_017827.3(SARS2): c.353G> A (p.Arg118Gln)	single nucleotide variant	Uncertain significance	rs377601567	GRCh37	Chromosome 19, 39416855: 39416855
45	SARS2	NM_017827.3(SARS2): c.-12T> C	single nucleotide variant	Benign	rs730078	GRCh38	Chromosome 19, 38930748: 38930748
46	SARS2	NM_017827.3(SARS2): c.-12T> C	single nucleotide variant	Benign	rs730078	GRCh37	Chromosome 19, 39421388: 39421388
47	SARS2	NM_017827.3(SARS2): c.*79G> C	single nucleotide variant	Likely benign	rs9403	GRCh37	Chromosome 19, 39406167: 39406167
48	SARS2	NM_017827.3(SARS2): c.*79G> C	single nucleotide variant	Likely benign	rs9403	GRCh38	Chromosome 19, 38915527: 38915527
49	SARS2	NM_017827.3(SARS2): c.916+14_916+15delTG	deletion	Benign/Likely benign	rs60352446	GRCh37	Chromosome 19, 39409047: 39409048
50	SARS2	NM_017827.3(SARS2): c.916+14_916+15delTG	deletion	Benign/Likely benign	rs60352446	GRCh38	Chromosome 19, 38918407: 38918408

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

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

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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	Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds ⁶⁶ Show member pathways Bicarbonate transporters ⁶⁶ Cation-coupled Chloride cotransporters ⁶⁶ Class II GLUTs ⁶⁶ Facilitative Na+-independent glucose transporters ⁶⁶ Inositol transporters ⁶⁶ Multifunctional anion exchangers ⁶⁶ Na+/Cl- dependent neurotransmitter transporters ⁶⁶ Na+-dependent glucose transporters ⁶⁶ Organic anion transport ⁶⁶ Organic anion transporters ⁶⁶ Organic cation transport ⁶⁶ Organic cation/anion/zwitterion transport ⁶⁶ Proton/oligopeptide cotransporters ⁶⁶ Proton-coupled monocarboxylate transport ⁶⁶ Rhesus glycoproteins mediate ammonium transport. ⁶⁶ SLC-mediated transmembrane transport ⁶⁶ Sodium/Calcium exchangers ⁶⁶ Sodium/Proton exchangers ⁶⁶ Sodium-coupled phosphate cotransporters ⁶⁶ Sodium-coupled sulphate, di- and tri-carboxylate transporters ⁶⁶ Transmembrane transport of small molecules ⁶⁶ Transport of inorganic cations/anions and amino acids/oligopeptides ⁶⁶ Type II Na+/Pi cotransporters ⁶⁶	12.46	CFTR SLC12A1 SLC4A4
2	Pancreatic secretion ³⁷	10.94	CFTR SLC4A4
3	Bile secretion ³⁷	10.47	CFTR SLC4A4

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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	apical plasma membrane	GO:0016324	8.62	CFTR SLC12A1

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	9.33	CFTR SLC12A1 SLC4A4
2	sodium ion transport	GO:0006814	9.32	SLC12A1 SLC4A4
3	chloride transmembrane transport	GO:1902476	9.26	CFTR SLC12A1
4	transmembrane transport	GO:0055085	9.13	CFTR SLC12A1 SLC4A4
5	bicarbonate transport	GO:0015701	8.62	CFTR SLC4A4

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	SLC12A1 SLC4A4

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

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

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⁷³ UMLS

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⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome

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

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

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

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

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:

Comorbidity relations with Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome via Phenotypic Disease Network (PDN): (show all 31)

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

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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

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

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

Inferred drug relations via UMLS 73 / NDF-RT 51 :

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:

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

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

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

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

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

Genes related to Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome (1 elite genes):

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

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

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

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

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:

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:

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

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

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

Inferred drug relations via UMLS ⁷³ / NDF-RT ⁵¹ :