Klinische FragestellungNephrolithiasis, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Nephrolithiasis mit 10 Leitlinien-kuratierten sowie insgesamt 35 kuratierten Genen
ID
NP0610
Anzahl Gene
29
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
31,2 kb (Core-/Core-canditate-Gene)
48,8 kb (Erweitertes Panel: inkl. additional genes)
48,8 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
---|---|---|---|---|
AGXT | 1179 | NM_000030.3 | AR | |
APRT | 543 | NM_000485.3 | AR | |
ATP6V0A4 | 2523 | NM_020632.3 | AR | |
ATP6V1B1 | 1542 | NM_001692.4 | AR | |
CA2 | 783 | NM_000067.3 | AR | |
CLCN5 | 2241 | NM_000084.5 | XLR | |
CLDN19 | 675 | NM_148960.3 | AR | |
CYP24A1 | 1545 | NM_000782.5 | AR | |
GRHPR | 987 | NM_012203.2 | AR | |
HOGA1 | 984 | NM_138413.4 | AR | |
HPRT1 | 657 | NM_000194.3 | XLR | |
OCRL | 2706 | NM_000276.4 | XLR | |
PHEX | 2250 | NM_000444.6 | XL | |
SLC34A1 | 1920 | NM_003052.5 | AD, AR | |
SLC34A3 | 1800 | NM_080877.2 | AD, AR | |
SLC3A1 | 2058 | NM_000341.4 | AD, AR, digenisch | |
SLC4A1 | 2736 | NM_000342.4 | AD, AR | |
XDH | 4002 | NM_000379.4 | AR | |
BSND | 963 | NM_057176.3 | AR | |
CASR | 3237 | NM_000388.4 | AD, AR | |
CLDN16 | 918 | NM_006580.4 | AR | |
FAM20A | 1212 | NM_001243746.2 | AR | |
KCNJ1 | 1176 | NM_000220.6 | AR | |
SLC12A1 | 3300 | NM_000338.3 | AR | |
SLC22A12 | 1560 | NM_001276326.2 | AR | |
SLC2A9 | 1536 | NM_001001290.2 | AD, AR | |
SLC7A9 | 1464 | NM_014270.5 | AD, AR | |
SLC9A3R1 | 1077 | NM_004252.5 | AD | |
STRADA | 1185 | NM_001003786.3 | AR |
Infos zur Erkrankung
Klinischer Kommentar
ORPHA:1652 Morbus Dent; tubuläre Nierenerkrankung wegen proximaler Tubulusdysfunktion
ORPHA:93622 Morbus Dent Typ 1; Prävalenz: unbekannt (<250 Familien)
ORPHA:93623 Morbus Dent Typ 2; Prävalenz: unbekannt (~20 Fälle)
ORPHA:244305 Dominante Hypophosphatämie mit Nephrolithiasis oder Osteoporose; Prävalenz: <1/1 000 000 (>10 Fälle)
Erhöhtes Risiko bei Patienten mit primärer Hyperoxalurie, Cystiurie, CF, Lesch-Nyhan Syndrom, renal-tubulärer Azidose und Xanthinurie
Synonyme
- 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)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
- XL
- XLR
- digenisch
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
N20.-
Bioinformatik und klinische Interpretation
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