Hypouricemia, renal, 2

General Information (adopted from Orphanet):

Synonyms, Signs: RHUC2 uric acid concentration, serum, quantitative trait locus 2, included
Gout2, included
UAQTL2, included
Gout susceptibility 2, included
Number of Symptoms 28
OrphanetNr:
OMIM Id: 612076
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
24397858 [IBIS]
Age of onset: Childhood
Adolescent
21810765 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: AARSKOG SYNDROME, AUTOSOMAL DOMINANT
 -AARSKOG SYNDROME, AUTOSOMAL DOMINANT

Comment:

Hereditary Renal Hypouricemia (HRH) is usually asymptomatic but can also be complicated by nephrolithiasis or exercise-induced acute kidney injury (EIAKI) (PMID:25966807).

Symptom Information: Sort by abundance 

1
(HPO:0002027) Abdominal pain 24397858; 21256783; 24643436; 24628802; 21536615 IBIS 184 / 7739
2
(HPO:0002014) Diarrhea 24397858; 24643436 IBIS 225 / 7739
3
(HPO:0002018) Nausea 24628802; 25966807; 27116386; 24643436; 21536615 IBIS 44 / 7739
4
(HPO:0002013) Vomiting 24397858; 27116386; 24643436; 24628802; 21536615 IBIS 191 / 7739
5
(HPO:0000505) Visual impairment 21536615 IBIS 297 / 7739
6
(HPO:0001942) Metabolic acidosis 24397858 IBIS 81 / 7739
7
(HPO:0002905) Hyperphosphatemia 24397858 IBIS 18 / 7739
8
(HPO:0000822) Hypertension 21536615 IBIS 224 / 7739
9
(HPO:0001278) Orthostatic hypotension 25966807 IBIS 24 / 7739
10
(HPO:0002900) Hypokalemia 24397858 IBIS 45 / 7739
11
(HPO:0003537) Hypouricemia 19026395; 24397858; 25966807; 21256783; 24940677; 18701466; 21810765; 27116386; 24628802; 21536615 IBIS 13 / 7739
12
(MedDRA:10071066) Posterior reversible encephalopathy syndrome 24643436; 21536615 IBIS 2 / 7739
13
(HPO:0012378) Fatigue 24643436 IBIS 50 / 7739
14
(HPO:0000738) Hallucinations 21536615 IBIS 60 / 7739
15
(HPO:0002315) Headache 21536615 IBIS 175 / 7739
16
(HPO:0002197) Generalized seizures 21536615 IBIS 30 / 7739
17
(HPO:0003259) Elevated serum creatinine 25966807; 19926891; 21536615 IBIS 31 / 7739
18
(HPO:0003149) Hyperuricosuria 21256783; 21810765; 27116386 IBIS 7 / 7739
19
(HPO:0003419) Low back pain 25966807; 27116386; 24628802; 21536615 IBIS 6 / 7739
20
(HPO:0001945) Fever 24397858 IBIS 218 / 7739
21
(HPO:0008682) Acute tubular necrosis 24628802 IBIS 4 / 7739
22
(HPO:0001970) Tubulointerstitial nephritis 24397858 IBIS 27 / 7739
23
(HPO:0000787) Nephrolithiasis rare [HPO:skoehler] 25966807; 19926891 IBIS 78 / 7739
24
(HPO:0011036) Abnormality of renal excretion 24397858 IBIS 1 / 7739
25
(HPO:0100520) Oliguria 24643436 IBIS 14 / 7739
26
(HPO:0004727) Impaired renal concentrating ability 25966807 IBIS 6 / 7739
27
(HPO:0000790) Hematuria 24397858 IBIS 106 / 7739
28
(HPO:0001919) Acute kidney injury 21536615; 24397858; 25966807; 19926891; 24643436; 24628802 IBIS 21 / 7739

Associated genes:

SLC2A9;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Renal hypouricemia is a common inherited disorder characterized by impaired renal urate reabsorption and subsequent low serum urate levels. It may be associated with severe complications such as exercise-induced acute renal failure and nephrolithiasis (Matsuo et al., 2008). Matsuo ...
Molecular genetics OMIM In 3 Japanese individuals, including a mother and son, with hypouricemia, Matsuo et al. (2008) identified 2 different heterozygous mutations in the SLC2A9 gene (606142.0004; 606142.0005). In vitro functional expression studies showed that both mutations resulted in decreased urate ...