ErkrankungFGFR-Kraniosynostose-Syndrome, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für FGFR-Kraniosynostose-Syndrom mit zusammen genommen 17 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
FP0070
Anzahl Gene
17
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
9,1 kb (Core-/Basis-Gene)
39,8 kb (Erweitertes Panel)
39,8 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 |
---|---|---|---|
EFNB1 | 1041 | XLD | |
FGFR1 | 2469 | AD und/oder Dig | |
FGFR2 | 2466 | AD und/oder Sus | |
FGFR3 | 2421 | AD und/oder AR und/oder SMu | |
TWIST1 | 609 | AD | |
CD96 | 1710 | AD | |
ERF | 1647 | AD | |
FLNA | 7920 | XL | |
GLI3 | 4743 | AD | |
MSX2 | 804 | AD | |
POR | 2043 | AR | |
RAB23 | 714 | AR | |
RECQL4 | 3628 | AR | |
SKI | 2187 | AD | |
TCF12 | 2121 | AD | |
TGFBR1 | 1512 | AD | |
TGFBR2 | 1704 | AD |
Infos zur Erkrankung
Klinischer Kommentar
illness_ClinicalComment_FP0070
Synonyme
- Alias: Koronarnaht-Synostose
- Allelic: Achondroplasia (FGFR3)
- Allelic: Bladder cancer, somatic (FGFR3)
- Allelic: Brachydactyly, type A1 (IHH)
- Allelic: CATSHL syndrome (FGFR3)
- Allelic: Cardiac valvular dysplasia, XL (FLNA)
- Allelic: Cervical cancer, somatic (FGFR3)
- Allelic: Chitayat syndrome [respiratory distress, facial dysmorphism, digital anomalies] (ERF)
- Allelic: Colorectal cancer, hereditary nonpolyposis, type 6 (TGFBR2)
- Allelic: Colorectal cancer, somatic (FGFR3)
- Allelic: Congenital short bowel syndrome (FLNA)
- Allelic: Disordered steroidogenesis due to cytochrome P450 oxidoreductase (POR)
- Allelic: Encephalocraniocutaneous lipomatosis, somatic mosaic (FGFR1)
- Allelic: Esophageal cancer, somatic (TGFBR2)
- Allelic: FG syndrome 2 (FLNA)
- Allelic: Frontometaphyseal dysplasia 1 (FLNA)
- Allelic: Heterotopia, periventricular, 1 (FLNA)
- Allelic: Hypochondroplasia (FGFR3)
- Allelic: Hypogonadotropic hypogonadism 2 with/_out anosmia (FGFR1)
- Allelic: Intestinal pseudoobstruction, neuronal (FLNA)
- Allelic: Melnick-Needles syndrome (FLNA)
- Allelic: Multiple self-healing squamous epithelioma, susceptibility to (TGFBR1)
- Allelic: Nevus, epidermal, somatic (FGFR3)
- Allelic: Pallister-Hall syndrome (GLI3)
- Allelic: Parietal foramina 1 (MSX2)
- Allelic: Parietal foramina with cleidocranial dysplasia (MSX2)
- Allelic: Polydactyly, postaxial, types A1 + B (GLI3)
- Allelic: Polydactyly, preaxial, type IV (GLI3)
- Allelic: RAPADILINO syndrome (RECQL4)
- Allelic: Rothmund-Thomson syndrome, type 2 (RECQL4)
- Allelic: SADDAN [severe achondroplasia with developmental delay + acanthosis nigricans] (FGFR3)
- Allelic: Spermatocytic seminoma, somatic (FGFR3)
- Allelic: Terminal osseous dysplasia (FLNA)
- Allelic: Thanatophoric dysplasia, type I (FGFR3)
- Allelic: Thanatophoric dysplasia, type II (FGFR3)
- Acampomelic campomelic dysplasia (SOX9)
- Acrocapitofemoral dysplasia (IHH)
- Antley-Bixler syndrome with genital anomalies + disordered steroidogenesis (POR)
- Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis (FGFR2)
- Apert syndrome (FGFR2)
- Baller-Gerold syndrome (RECQL4)
- Beare-Stevenson cutis gyrata syndrome (FGFR2)
- Bent bone dysplasia syndrome (FGFR2)
- C syndrome [Opitz trigonocephaly syndrome] (CD96)
- Campomelic dysplasia (SOX9)
- Campomelic dysplasia with autosomal sex reversal (SOX9)
- Carpenter syndrome [Acrocephalopolysyndactyly type II] (RAB23)
- Craniofacial-skeletal-dermatologic dysplasia (FGFR2)
- Craniofrontonasal dysplasia (EFNB1)
- Craniosynostosis 1 (TWIST1)
- Craniosynostosis 2 (MSX2)
- Craniosynostosis 3 (TCF12)
- Craniosynostosis 4 (ERF)
- Craniosynostosis, nonspecific (FGFR2)
- Crouzon syndrome (FGFR2)
- Crouzon syndrome with acanthosis nigricans (FGFR3)
- Greig cephalopolysyndactyly syndrome (GLI3)
- Hartsfield syndrome (FGFR1)
- Jackson-Weiss syndrome (FGFR1, FGFR2)
- LADD syndrome (FGFR2, FGFR3)
- Loeys-Dietz syndrome 1 (TGFBR1)
- Loeys-Dietz syndrome 2 (TGFBR2)
- Muenke syndrome (FGFR3)
- Osteoglophonic dysplasia (FGFR1)
- Otopalatodigital syndrome, type I (FLNA)
- Otopalatodigital syndrome, type II (FLNA)
- Pfeiffer syndrome (FGFR1, FGFR2)
- Robinow-Sorauf syndrome (TWIST1)
- Saethre-Chotzen syndrome (FGFR2)
- Saethre-Chotzen syndrome with/-out eyelid anomalies (TWIST1)
- Scaphocephaly + Axenfeld-Rieger anomaly (FGFR2)
- Scaphocephaly, maxillary retrusion + mental retardation (FGFR2)
- Shprintzen-Goldberg [craniosynostosis] syndrome (SKI)
- Sweeney-Cox s. [facial dysost., cleft palate/velopharyngeal insuff., low-set cupped ears] (TWIST1)
- Trigonocephaly 1 (FGFR1)
Erbgänge, Vererbungsmuster etc.
- AD
- AD und/oder AR und/oder SMu
- AD und/oder Dig
- AD und/oder Sus
- AR
- XL
- XLD
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Q75.0
Bioinformatik und klinische Interpretation
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