Klinische FragestellungAarskog-[Scott-]Syndrom, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Aarskog(-Scott)- Syndrom mit 7 bzw. 20 kuratierten Genen je nach klinischer Verdachtsdiagnose
ID
AP1222
Anzahl Gene
18
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
14,7 kb (Core-/Core-canditate-Gene)
35,2 kb (Erweitertes Panel: inkl. additional genes)
35,2 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 |
---|---|---|---|---|
DVL1 | 2013 | NM_004421.3 | AD | |
FGD1 | 2886 | NM_004463.3 | XLR | |
FGFR3 | 2421 | NM_000142.5 | AD | |
MID1 | 2004 | NM_000381.4 | XLR | |
NXN | 1308 | NM_022463.5 | AR | |
ROR2 | 2832 | NM_004560.4 | AD, AR | |
WNT5A | 1143 | NM_003392.7 | AD | |
DVL3 | 2261 | NM_004423.4 | AD | |
FZD2 | 1699 | NM_001466.4 | AD | |
KRAS | 567 | NM_004985.5 | AD | |
NRAS | 570 | NM_002524.5 | AD | |
PIK3R1 | 2175 | NM_181523.3 | AD | |
PTPN11 | 1782 | NM_002834.5 | AD | |
RAF1 | 1947 | NM_002880.4 | AD | |
RIT1 | 660 | NM_006912.6 | AD | |
SHOX | 879 | NM_000451.3, NM_006883.2 | PD/PR | |
SOS1 | 4002 | NM_005633.4 | AD | |
SOS2 | 3999 | NM_006939.4 | AD |
Infos zur Erkrankung
Klinischer Kommentar
Gruppe von Erkrankungen, s.a. Aarskog Syndrom (Entwicklungsstörung mit Auffälligkeiten des Gesichts, der Glieder sowie des Genitales, disproportionierter Kleinwuchs mit Akromelie)
Synonyme
- Alias: Aarskog[-Scott] syndrome (FGD1)
- Alias: Dysplasie, fazio-genitale
- Alias: Faciogenital dysplasia with/without attention deficit-hyperactivity disorder
- Alias: Fazio-genito-digitales Syndrom
- Alleic: Pituitary adenoma 3, multiple types, somatic (GNAS)
- Allelic: ACTH-independent macronodular adrenal hyperplasia (GNAS)
- Allelic: Achondroplasia (FGFR3)
- Allelic: Agammaglobulinemia 7, AR (PIK3R1)
- Allelic: Brachydactyly, type B1 (ROR2)
- Allelic: CATSHL [CAmptodactyly, Tall Stature, Hearing Loss] syndrome (FGFR3)
- Allelic: Congenital osteoma cutis (GNAS)
- Allelic: Crouzon syndrome with acanthosis nigricans (FGFR3)
- Allelic: Immunodeficiency 36 (PIK3R1)
- Allelic: LEOPARD syndrome 1 (PTPN11)
- Allelic: LEOPARD syndrome 2 (RAF1)
- Allelic: Langer mesomelic dysplasia (SHOX)
- Allelic: Leri-Weill dyschondrosteosis (SHOX)
- Allelic: McCune-Albright syndrome, somatic, mosaic (GNAS)
- Allelic: Muenke syndrome (FGFR3)
- Allelic: Osseous heteroplasia, progressive (GNAS)
- Allelic: Polyostotic fibrous Dysplasia (GNAS)
- 3-M syndrome 1: Dolichospondylic dysplasia (CUL7)
- Allelic: ACTH-independent macronodular adrenal hyperplasia (GNAS)
- Allelic: McCune-Albright syndrome, somatic, mosaic (GNAS)
- Allelic: Pseudohypoparathyroidism I1, Ib, Ic (GNAS)
- Allelic: Pseudopseudohypoparathyroidism (GNAS)
- Developmental delay, hypotonia, musculoskeletal defects, behavioral abnormalities (SRCAP)
- Floating-Harbor syndrome (SRCAP)
- KBG syndrome (ANKRD11)
- Kabuki syndrome 1 (KMT2D)
- Kabuki syndrome 2 (KDM6A)
- LADD syndrome [LacrimoAuriculoDentoDigital] (FGFR3)
- Noonan syndrome 1 (PTPN11)
- Noonan syndrome 3 (KRAS)
- Noonan syndrome 4 (SOS1)
- Noonan syndrome 5 (RAF1)
- Noonan syndrome 6 (NRAS)
- Noonan syndrome 8 (RIT1)
- Noonan syndrome 9 (SOS2)
- Opitz GBBB syndrome, type I (MID1)
- Osseous heteroplasia, progressive (GNAS)
- Pseudohypoparathyroidism Ia - Ic (GNAS)
- Pseudopseudohypoparathyroidism (GNAS)
- Robinow syndrome, AD 1 (WNT5A)
- Robinow syndrome, AD 2 (DVL1)
- Robinow syndrome, AR (ROR2)
- Robinow syndrome, AR 2 (NXN)
- SADDAN - Severe Achondroplasia, Developmental Delay + Acanthosis Nigricans (FGFR3)
- SHORT syndrome (PIK3R1)
- Short stature, idiopathic familial (SHOX)
- Short stature; Hyperextens. joints/hernia; Ocular depr.; Rieger anom.; Teeths delay: SHORT (PIK3R1)
- Thanatophoric dysplasia, type I + II (FGFR3)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
- PD/PR
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Q89.8
Bioinformatik und klinische Interpretation
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