Hypouricemia, renal, 1

General Information (adopted from Orphanet):

Synonyms, Signs: RHUC1
Dalmatian hypouricemia
Renal hypouricemia
Number of Symptoms 20
OrphanetNr:
OMIM Id: 220150
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
23043931 [IBIS]
Age of onset: Childhood, Adult
26848304 [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:0000969) Edema 23525542 IBIS 117 / 7739
2
(HPO:0000505) Visual impairment 23525542 IBIS 297 / 7739
3
(HPO:0000822) Hypertension 23525542 IBIS 224 / 7739
4
(HPO:0002069) Generalized tonic-clonic seizures 23525542 IBIS 96 / 7739
5
(HPO:0001944) Dehydration 23525542 IBIS 59 / 7739
6
(HPO:0003537) Hypouricemia 23525542; 23043931; 14655203; 15634722; 26848304 IBIS 13 / 7739
7
(HPO:0100520) Oliguria 23043931; 14655203; 23525542 IBIS 14 / 7739
8
(HPO:0002315) Headache 23525542 IBIS 175 / 7739
9
(HPO:0002013) Vomiting 23043931; 14655203; 23525542 IBIS 191 / 7739
10
(HPO:0002018) Nausea 23043931; 14655203 IBIS 44 / 7739
11
(HPO:0001919) Acute kidney injury 23043931; 14655203; 26848304; 23525542 IBIS 21 / 7739
12
(MedDRA:10071066) Posterior reversible encephalopathy syndrome 23525542 IBIS 2 / 7739
13
(HPO:0002027) Abdominal pain 14655203; 23525542 IBIS 184 / 7739
14
(HPO:0003259) Elevated serum creatinine 14655203; 26848304 IBIS 31 / 7739
15
(HPO:0012611) Increased urinary urate 23043931 IBIS 2 / 7739
16
(HPO:0003418) Back pain 14655203 IBIS 17 / 7739
17
(HPO:0008682) Acute tubular necrosis 14655203 IBIS 4 / 7739
18
(HPO:0000791) Uric acid nephrolithiasis 14655203; 26848304 IBIS 4 / 7739
19
(HPO:0030157) Flank pain 26848304 IBIS 5 / 7739
20
(MedDRA:10018735) Groin pain 23043931 IBIS 1 / 7739

Associated genes:

SLC22A12;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Renal hypouricemia is characterized by impaired uric acid reabsorption at the apical membrane of proximal renal tubule cells. The syndrome is not lethal and may be asymptomatic. However, it is accompanied by nephrolithiasis and exercise-induced acute renal failure in ...
Clinical Description OMIM Greene et al. (1972) reported brother and sister with low serum urate concentration due to an isolated defect in renotubular reabsorption of urate such as occurs in the Dalmatian coachhound (see 242050). Akaoka et al. (1975) described a family ...
Molecular genetics OMIM In a 48-year-old Japanese male with a blood urate level of 4.3 +/- 0.9 microgram/milliliter (normal range, 58 to 70 microgram/milliliter), Enomoto et al. (2002) identified a homozygous trp258-to-ter mutation in the SLC22A12 gene (W258X; 607096.0001). The patient had ...
Population genetics OMIM Gafter et al. (1989) emphasized the high frequency of this disorder in Iraqi Jews. Of 11 families with a presecretory defect, 8 were of Sephardic Jewish origin and 6 of these were Iraqi. An American patient reported by Greene ...