ErkrankungAmelogenesis imperfecta, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Amelogenesis imperfecta mit 13 bzw. 29 kuratierten Genen je nach klinischer Verdachtsdiagnose
ID
AP0540
Anzahl Gene
28
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
28,0 kb (Core-/Basis-Gene)
60,1 kb (Erweitertes Panel)
60,1 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
AMELX | 618 | XLD | |
DLX3 | 864 | AD | |
ENAM | 3429 | AD und/oder AR | |
FAM20A | 1212 | AR | |
FAM83H | 3540 | AD | |
GPR68 | 1098 | AR | |
ITGB6 | 2367 | AR | |
KLK4 | 765 | AR | |
LAMB3 | 3519 | AD und/oder AR und/oder Dig | |
LTBP3 | 3912 | AD und/oder AR | |
MMP20 | 1452 | AR | |
SLC24A4 | 1869 | AR | |
WDR72 | 3309 | AR | |
ACP4 | 1292 | AR | |
AMBN | 1344 | AR | |
CNNM4 | 2328 | AR | |
COL17A1 | 4494 | AD und/oder AR und/oder Dig | |
FAM20C | 1755 | AR | |
LAMA3 | 5175 | AR | |
ODAPH | 531 | AR | |
ORAI1 | 912 | AD und/oder AR | |
PEX1 | 3852 | AR | |
PEX6 | 2943 | AD und/oder AR | |
RELT | 1353 | AR | |
ROGDI | 864 | AR | |
SLC10A7 | 1485 | AR | |
SLC13A5 | 1707 | AR | |
STIM1 | 2058 | AD und/oder AR |
Infos zur Erkrankung
Klinischer Kommentar
Zahn- oder periodontale Erkrankung, Gruppe von Entwicklungsstörungen die Struktur + Klinik des Zahnenamels mehr oder weniger gleichartig betreffen; kann assoziiert sein mit anderen morphologischen + biochemischen Veränderungen
Synonyme
- Alias: Congenital enamel hypoplasia
- Alias: Enamel hypoplasia, XL
- Alias: Hypomaturation amelogenesis imperfecta with variable hypoplastic foci
- Alias: Hypoplastic amelogenesis imperfecta
- Alias: Smooth hypoplastic amelogenesis imperfecta
- Allelic: Epidermolysis bullosa, generalized atrophic benign (LAMA3)
- Allelic: Epidermolysis bullosa, junctional, Herlitz type (LAMA3)
- Allelic: Epidermolysis bullosa, junctional, Herlitz type (LAMB3)
- Allelic: Epidermolysis bullosa, junctional, localisata variant (COL17A1)
- Allelic: Epidermolysis bullosa, junctional, non-Herlitz type (COL17A1)
- Allelic: Epidermolysis bullosa, junctional, non-Herlitz type (LAMB3)
- Allelic: Epileptic encephalopathy, early infantile (SLC13A5)
- Allelic: Epithelial recurrent erosion dystrophy (COL17A1)
- Allelic: Geleophysic dysplasia 3 (LTBP3)
- Allelic: Heimler syndrome 1 (PEX1)
- Allelic: Heimler syndrome 2 (PEX6)
- Allelic: Immunodeficiency 10 (STIM1)
- Allelic: Immunodeficiency 9 (ORAI1)
- Allelic: Myopathy, tubular aggregate, 1 (STIM1)
- Allelic: Myopathy, tubular aggregate, 2 (ORAI1)
- Allelic: Skin/hair/eye pigmentation 6, blond/brown hair (SLC24A4)
- Allelic: Skin/hair/eye pigmentation 6, blue/green eyes (SLC24A4)
- Allelic: Stormorken syndrome (STIM1)
- Allelic: Zellweger syndrome 1A (PEX1)
- Allelic: Zellweger syndrome 4A (PEX6)
- Amelogenesis imperfecta, hypomaturation type, IIA6 (GPR68)
- Amelogenesis imperfecta, type IA (LAMB3)
- Amelogenesis imperfecta, type IB (ENAM)
- Amelogenesis imperfecta, type IC (ENAM)
- Amelogenesis imperfecta, type IE (AMELX)
- Amelogenesis imperfecta, type IF (AMBN)
- Amelogenesis imperfecta, type IG [enamel-renal syndrome] (FAM20A)
- Amelogenesis imperfecta, type IH (ITGB6)
- Amelogenesis imperfecta, type IIA1 (KLK4)
- Amelogenesis imperfecta, type IIA2 (MMP20)
- Amelogenesis imperfecta, type IIA3 (WDR72)
- Amelogenesis imperfecta, type IIA4 (ODAPH)
- Amelogenesis imperfecta, type IIA5 (SLC24A4)
- Amelogenesis imperfecta, type IIIA (FAM83H)
- Amelogenesis imperfecta, type IIIC (RELT)
- Amelogenesis imperfecta, type IJ (ACP4)
- Amelogenesis imperfecta, type IV (DLX3)
- Deafness, AD 39, with dentinogenesis (DSPP)
- Dental anomalies + short stature (LTBP3)
- Dentin dysplasia, type II (DSPP)
- Dentinogenesis imperfecta, Shields type II (DSPP)
- Dentinogenesis imperfecta, Shields type III (DSPP)
- Jalili syndrome [Cone-rod dystrophy + amelogenesis imperfecta] (CNNM4)
- Kohlschütter-Tönz syndrome [Epilepsy + yellow teeth] (ROGDI)
- Laryngoonychocutaneous syndrome (LAMA3)
- Raine syndrome [neonatal osteosclerotic bone dysplasia] (FAM20C)
- Short stature, amelogenesis imperfecta + skeletal dysplasia with scoliosis (SLC10A7)
- Tricho-donto-osseous syndrome (DLX3)
Erbgänge, Vererbungsmuster etc.
- AD
- AD und/oder AR
- AD und/oder AR und/oder Dig
- AR
- XLD
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
K00.5
Bioinformatik und klinische Interpretation
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