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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessNephrolithiasis, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Nephrolithiasis comprising 10 guideline-curated and altogether 35 curated genes

ID
NP0610
Number of genes
29 Accredited laboratory test
Examined sequence length
31,2 kb (Core-/Core-canditate-Genes)
48,8 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
AGXT1179AR
APRT543AR
ATP6V0A42523AR
ATP6V1B11542AR
CA2783AR
CLCN52241XLR
CLDN19675AR
CYP24A11545AR
GRHPR987AR
HOGA1984AR
HPRT1657XLR
OCRL2706XLR
PHEX2250XL
SLC34A11920AD, AR
SLC34A31800AD, AR
SLC3A12058AD, AR, digenisch
SLC4A12736AD, AR
XDH4002AR
BSND963AR
CASR3237AD, AR
CLDN16918AR
FAM20A1212AR
KCNJ11176AR
SLC12A13300AR
SLC22A121560AR
SLC2A91536AD, AR
SLC7A91464AD, AR
SLC9A3R11077AD
STRADA1185AR

Informations about the disease

Clinical Comment

ORPHA:1652 Dent disease: Renal tubular disease characterized by manifestations of proximal tubule dysfunction

ORPHA:93622 Dent disease type 1; Prevalence: Unknown (<250 families)

ORPHA:93623 Dent disease type 2; Prevalence: Unknown (~20 cases)

ORPHA:244305 Dominant hypophosphatemia with nephrolithiasis or osteoporosis; Prevalence: <1/1 000 000 (>10 cases)

Increased risk in patients with primary hyperoxaluria, Cystiuria, CF, Lesch-Nyhan, renal tubular acidosis and Xanthinuria

 

Synonyms
  • Allelic: Diabetes mellitus, noninsulin-dependent (HNF4A)
  • Allelic: Epilepsy idiopathic generalized, susceptibility to, 8 (CASR)
  • Allelic: MODY, type I (HNF4A)
  • Allelic: Sensorineural deafness with mild renal dysfunction (BSND)
  • Adenine phosphoribosyltransferase deficiency (APRT)
  • Allelic: Bronchiectasis +/- elevated sweat chloride 1, modifier of (CFTR)
  • Allelic: Congenital bilateral absence of vas deferens (CFTR)
  • Allelic: Hypertrypsinemia, neonatal (CFTR)
  • Allelic: Pancreatitis, hereditary (CFTR)
  • Allelic: Sweat chloride elevation without CF (CFTR)
  • Amelogenesis imperfecta, type IG, enamel-renal syndrome (FAM20A)
  • Arthrogryposis, renal dysfunction + cholestasis 1 (VPS33B)
  • Arthrogryposis, renal dysfunction + cholestasis 2 (VIPAS39)
  • Bartter syndrome, type 1 (SLC12A1)
  • Bartter syndrome, type 2 (KCNJ1)
  • Bartter syndrome, type 4a (BSND)
  • Bartter syndrome, types 3 + 4b, digenic (CLCNKB)
  • Cystic fibrosis (CFTR)
  • Cystinuria (SLC3A1)
  • Dent disease 2 (OCRL)
  • Dent syndrome (CLCN5)
  • Distal renal tubular acidosis 1 (SLC4A1)
  • Distal renal tubular acidosis 2 with progressive sensorineural hearing loss (ATP6V1B1)
  • Distal renal tubular acidosis 3, with/-out sensorineural hearing loss (ATP6V0A4)
  • Distal renal tubular acidosis 4 with hemolytic anemia (SLC4A1)
  • Fanconi renotubular syndrome 2 (SLC34A1)
  • Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young (HNF4A)
  • Hypercalcemia, infantile, 1 (CYP24A1)
  • Hypercalcemia, infantile, 2 (SLC34A1)
  • Hyperglycinuria (SLC36A2)
  • Hyperoxaluria, primary, type I (AGXT)
  • Hyperoxaluria, primary, type II (GRHPR)
  • Hyperoxaluria, primary, type III (HOGA1)
  • Hyperparathyroidism, neonatal (CASR)
  • Hyperuricemia, HRPT-related (HPRT1)
  • Hypocalcemia, AD (CASR)
  • Hypocalcemia, AD, with Bartter syndrome (CASR)
  • Hypocalciuric hypercalcemia, type I (CASR)
  • Hypomagnesemia 3, renal (CLDN16)
  • Hypomagnesemia 5, renal, with ocular involvement (CLDN19)
  • Hypomagnesemia 7, renal, +/- dilated cardiomyopathy (RRAGD)
  • Hypophosphatemic rickets, XLD (PHEX)
  • Iminoglycinuria, digenic (SLC36A2)
  • Lesch-Nyhan syndrome (HPRT1)
  • Nephrolithiasis type 1 (CLCN5)
  • Nephrolithiasis, calcium oxalate (SLC26A1)
  • Nephrolithiasis/osteoporosis, hypophosphatemic, 1 (SLC34A1)
  • Osteopetrosis, AR 3, with renal tubular acidosis (CA2)
  • Polyhydramnios, megalencephaly + symptomatic epilepsy (STRADA)
  • Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis (CLCN5)
  • Xanthinuria, type I (XDH)
  • Xanthinuria, type II (MOCOS)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XL
  • XLR
  • digenisch
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
N20.-

Bioinformatics and clinical interpretation

No text defined