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)
48,8 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Gene panel
Selected genes
Name | Exon Length (bp) | OMIM-G | Heredity |
---|---|---|---|
AGXT | 1179 | AR | |
APRT | 543 | AR | |
ATP6V0A4 | 2523 | AR | |
ATP6V1B1 | 1542 | AR | |
CA2 | 783 | AR | |
CLCN5 | 2241 | XLR | |
CLDN19 | 675 | AR | |
CYP24A1 | 1545 | AR | |
GRHPR | 987 | AR | |
HOGA1 | 984 | AR | |
HPRT1 | 657 | XLR | |
OCRL | 2706 | XLR | |
PHEX | 2250 | XL | |
SLC34A1 | 1920 | AD, AR | |
SLC34A3 | 1800 | AD, AR | |
SLC3A1 | 2058 | AD, AR, digenisch | |
SLC4A1 | 2736 | AD, AR | |
XDH | 4002 | AR | |
BSND | 963 | AR | |
CASR | 3237 | AD, AR | |
CLDN16 | 918 | AR | |
FAM20A | 1212 | AR | |
KCNJ1 | 1176 | AR | |
SLC12A1 | 3300 | AR | |
SLC22A12 | 1560 | AR | |
SLC2A9 | 1536 | AD, AR | |
SLC7A9 | 1464 | AD, AR | |
SLC9A3R1 | 1077 | AD | |
STRADA | 1185 | AR |
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