MCID: HYP815
MIFTS: 39

Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome

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



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.

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:



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:

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 Frequency 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

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 :


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:

41
Kidney

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 )
2013
2
Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome. ( 21255763 )
2011

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

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 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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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73 UMLS
74 UMLS via Orphanet
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