Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: HUPRA syndrome
Number of Symptoms 43
OrphanetNr: 363694
OMIM Id: 613845
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic renal tubular disease
 -Rare genetic disease
Mitochondrial disorder due to a defect in mitochondrial protein synthesis
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease
Rare renal tubular disease
 -Rare renal disease
Syndrome with pulmonary hypertension as a major feature
 -Rare respiratory disease

Comment:

Pathogenic mutations in SARS2, encoding the mitochondrial seryl-tRNA synthetase, result in hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis (HUPRA Syndrome).

Symptom Information: Sort by abundance 

1
 (HPO:0011968) Feeding difficulties 21255763 IBIS 240 / 7739
2
 (HPO:0002013) Vomiting 21255763 IBIS 191 / 7739
3
 (HPO:0002092) Pulmonary hypertension Very frequent [IBIS] 21255763 IBIS 109 / 7739
4
 (HPO:0002093) Respiratory insufficiency 21255763 IBIS 410 / 7739
5
 (HPO:0000816) Abnormality of Krebs cycle metabolism 21255763 IBIS 3 / 7739
6
 (HPO:0002151) Increased serum lactate 21255763 IBIS 92 / 7739
7
 (HPO:0001948) Alkalosis Very frequent [IBIS] 21255763 IBIS 4 / 7739
8
 (HPO:0005977) Hypochloremic metabolic alkalosis 21255763 IBIS 2 / 7739
9
 (HPO:0001508) Failure to thrive 21255763 IBIS 454 / 7739
10
 (HPO:0001876) Pancytopenia 21255763 IBIS 89 / 7739
11
 (HPO:0003074) Hyperglycemia 21255763 IBIS 37 / 7739
12
 (HPO:0001667) Right ventricular hypertrophy 21255763 IBIS 23 / 7739
13
 (HPO:0008322) Abnormal mitochondrial morphology 21255763 IBIS 8 / 7739
14
 (HPO:0011923) Decreased activity of mitochondrial complex I 21255763 IBIS 35 / 7739
15
 (HPO:0011924) Decreased activity of mitochondrial complex III 21255763 IBIS 22 / 7739
16
 (HPO:0008347) Decreased activity of mitochondrial complex IV 21255763 IBIS 31 / 7739
17
 (HPO:0001903) Anemia 21255763 IBIS 289 / 7739
18
 (HPO:0002917) Hypomagnesemia 21255763 IBIS 19 / 7739
19
 (HPO:0002902) Hyponatremia 21255763 IBIS 37 / 7739
20
 (HPO:0001882) Leukopenia 21255763 IBIS 51 / 7739
21
 (HPO:0001992) Organic aciduria 21255763 IBIS 28 / 7739
22
 (HPO:0002149) Hyperuricemia Very frequent [IBIS] 21255763 IBIS 37 / 7739
23
 (HPO:0003554) Type 2 muscle fiber atrophy 21255763 IBIS 14 / 7739
24
 (HPO:0001252) Muscular hypotonia 21255763 IBIS 990 / 7739
25
 (HPO:0008947) Infantile muscular hypotonia 21255763 IBIS 482 / 7739
26
 (HPO:0002490) Increased CSF lactate 21255763 IBIS 28 / 7739
27
 (HPO:0001263) Global developmental delay 21255763 IBIS 853 / 7739
28
 (HPO:0012610) Abnormality of urinary uric acid concentration 21255763 IBIS 1 / 7739
29
 (HPO:0000077) Abnormality of the kidney 21255763 IBIS 73 / 7739
30
 (HPO:0000091) Abnormality of the renal tubule 21255763 IBIS 15 / 7739
31
 (HPO:0004719) Hyperechogenic kidneys 21255763 IBIS 10 / 7739
32
 (HPO:0000103) Polyuria 21255763 IBIS 60 / 7739
33
 (HPO:0000083) Renal insufficiency Very frequent [IBIS] 21255763 IBIS 232 / 7739
34
 (HPO:0012622) Chronic kidney disease 21255763 IBIS 32 / 7739
35
 (HPO:0000093) Proteinuria 21255763 IBIS 169 / 7739
36
 (HPO:0001873) Thrombocytopenia 21255763 IBIS 224 / 7739
37
 (HPO:0000127) Renal salt wasting 21255763 IBIS 21 / 7739
38
 (HPO:0000819) Diabetes mellitus 21255763 IBIS 131 / 7739
39
 (HPO:0003688) Decreased activity of cytochrome C oxidase in muscle tissue 21255763 IBIS 20 / 7739
40
 (HPO:0001622) Premature birth 21255763 IBIS 100 / 7739
41
 (HPO:0001522) Death in infancy 21255763 IBIS 275 / 7739
42
 (HPO:0002878) Respiratory failure 21255763 IBIS 57 / 7739
43
 (OMIM) Denuded tubules 21255763 IBIS 1 / 7739

Associated genes:

SARS2;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Belostotsky et al. (2011) reported in detail 3 patients from 2 unrelated Palestinian families from the same village. All were born premature (27 to 34 weeks' gestation) and presented in infancy with failure to thrive. Laboratory studies showed ...
Molecular genetics OMIM In an infant boy, born of nonconsanguineous Palestinian parents, with HUPRA syndrome, Belostotsky et al. (2011) identified a homozygous mutation in the SARS2 gene (D390G; 612804.0001). Within the extended family, in an infant girl with HUPRA syndrome, born ...