Primary hyperoxaluria type 3

General Information (adopted from Orphanet):

Synonyms, Signs: HP3
PH3
PHIII
Number of Symptoms 8
OrphanetNr: 93600
OMIM Id: 613616
ICD-10: E74.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 1 of 100 000
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Primary hyperoxaluria
 -Rare eye disease
 -Rare genetic disease
 -Rare renal disease

Comment:

Concerning biomarker 4-hydroxyglutamate (4OHGlu): there was a steady decline with age in 4OHGlu levels, expressed as micromol/mmol of creatinine, in controls. Levels in patients with PH3 ranged from 6.5 to 98 micromol/mmol of creatinine and were all significantly increased when compared to age-matched controls. Levels in eight parents were moderately, but significantly increased (PMID:24563386).

Symptom Information: Sort by abundance 

1
 (HPO:0000010) Recurrent urinary tract infections 25972204 IBIS 56 / 7739
2
 (HPO:0002150) Hypercalciuria 21896830 IBIS 45 / 7739
3
 (HPO:0000790) Hematuria 25972204 IBIS 106 / 7739
4
 (HPO:0008672) Calcium oxalate nephrolithiasis 25972204 IBIS 10 / 7739
5
 (HPO:0012213) Decreased glomerular filtration rate 25972204 IBIS 21 / 7739
6
 (HPO:0003159) Hyperoxaluria Very frequent [IBIS] 21896830 IBIS 6 / 7739
7
 (HPO:0000083) Renal insufficiency 25972204 IBIS 232 / 7739
8
 (IBIS) Increased urinary 4-hydroxyglutamate (4OHGlu) Very frequent [IBIS] 24563386 IBIS 1 / 7739

Associated genes:

HOGA1;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Molecular genetics OMIM In affected members of 9 unrelated families with non-HP1/non-HP2 calcium oxalate nephrolithiasis mapping to chromosome 10, Belostotsky et al. (2010) analyzed the candidate gene DHDPSL and identified homozygosity or compound heterozygosity for 6 different mutations (613597.0001-613597.0006, respectively). The ...