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ErkrankungPränatal auffällige Gliedmaßen

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Pränatal auffällige Gliedmaßen mit 7 bzw. zusammen genommen 144 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
PP0002
Anzahl Gene
137 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
35,7 kb (Core-/Basis-Gene)
349,8 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • Chorionzotten (CVS)
  • Fruchtwasser (nach AC)
  • Nabelschnurblut (NB)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
COL2A14464AD
FGFR32421AD und/oder AR und/oder SMu
NIPBL8415AD und/oder Impr
SALL13975AD
SALL43162AD
SLC26A22220AR
SMC1A3702XLD und/oder Impr
SMC33654AD und/oder SMu und/oder Impr
TBX51557AD
TP632043AD und/oder Sus
AFF43492AD
ARHGAP314335AD
ARL6561AR und/oder Dig
ASXL14626AD und/oder SMu
BBS11782AR und/oder Dig
BBS102172AR
BBS122133AR
BBS22166AR und/oder Dig
BBS41560AR
BBS51026AR
BBS72148AR und/oder Dig
BBS92664AR
BHLHA9708AR
BMP21191AD und/oder AR
BMP41227AD
BMPR1B1509AD und/oder AR
BRCA210257AD und/oder AR und/oder SMu und/oder Sus
BRIP13750AD und/oder Sus
CCND2870AD
CCNQ685XLD
CENPF9403AR
CHSY12409AR
CKAP2L2238AR
DDR22568AD und/oder AR
DDX591860AR
DLL42058AD
DLX5870AR
DOCK66144AR
DVL12013AD
DVL32261AD
EBP693XL
EFTUD22919AD
EOGT1584AR
ERCC42751AR
ESCO21806AR
FANCA4368AR und/oder Sus
FANCB2580XLR und/oder Sus
FANCC1677AR und/oder Sus
FANCE1611AR und/oder Sus
FANCF1125AR und/oder Sus
FANCG1869AR und/oder Sus
FANCI3987AR und/oder Sus
FANCL1128AR und/oder Sus
FGD12886XLR
FGF10627AD
FGF16355XLR
FGFR12469AD und/oder Dig
FGFR22466AD und/oder Sus
FIG42724AD und/oder AR
FLNA7920XL
FRAS112039AR
FREM29510AR
FZD21699AD
GDF51506AD und/oder AR
GJA11149AD und/oder AR
GLI12937AD und/oder AR
GLI24761AD
GLI34743AD
GPC31743XLR und/oder SMu und/oder Sus
GRIP13231AR
HDAC81134XLD
HOXA131167AD
HOXD131032AD
IHH1236AD und/oder AR
KCNH12889AD
KYNU924AR
LBR1848AD und/oder AR
LMBR11473AD und/oder AR
LMX1B1188AD
LRP45718AD und/oder AR
LZTFL1900AR
MEGF88337AR
MKKS1713AR und/oder Dig
MKS11680AR
MYCN1395AD
NOG699AD
NOTCH17668AD und/oder SMu
NSDHL1122XL
PALB23561AD und/oder Sus
PAX31440AD und/oder AR und/oder SMu und/oder Gen Fusion
PCNT10011AR
PDE3A3569AD
PDE4D2430AD und/oder Mult
PIK3CA3207AD und/oder SMu und/oder Sus
PIK3R22187AD
PITX1945AD
PORCN1386XLD
PRMT71929AR
PTHLH534AD und/oder Mult
RAB23714AR
RAD211896AD und/oder AR und/oder SMu und/oder Impr
RBM8A525AR
RBPJ1503AD
RECQL43628AR
RNU4ATAC130AR
ROR22832AD und/oder AR
RPL11537AD
RPL5894AD
RPS10498AD
RPS26348AD
RPS7585AD
SF3B41275AD
SFRP41047AR
SHOX879PD und/oder PR
SLX45505AR und/oder Sus
SMAD61491AD
SMO2364AD
SMOC11308AR
TBX32172AD
TBX41638AD und/oder Ass
TFAP2B1383AD
TGDS1053AR
TMEM672988AR
TRPS13885AD
TRPV42616AD
TTC81518AR
TWIST1609AD
TXNDC151088AR
UBE2T594AR
USP9X7713XLD und/oder XLR
WDPCP2241AR
WDR603361
  • Keine OMIM-Gs verknüpft
AR
WNT10B1170AR und/oder Sus
WNT5A1143AD und/oder Sus
WNT7A1050AR
ZIC31404XLR
ZSWIM63648AD

Infos zur Erkrankung

Klinischer Kommentar

Gruppe heterogener Erkrankungen: Angeborene Anomalien der Gliedmaßen können durch genetische Syndrome verursacht werden oder isolierte sporadische Ereignisse sein; Früherkennung solcher Anomalien ist wichtig, um Familien im optimalen Zeitfenster beraten zu können

 

Synonyme
  • Alias: Prenatally unusual limbs
  • Allelic: Epileptic encephalopathy, early infantile, 85, with/-out midline brain defects (SMC1A)
  • Allelic: Hay-Wells syndrome (TP63)
  • Allelic: Hypophosphatasia, adult (ALPL)
  • Allelic: Hypophosphatasia, childhood (ALPL)
  • Allelic: Mungan syndrome (RAD21)
  • Allelic: Odontochondrodysplasia 1 (TRIP11)
  • Allelic: Orofacial cleft 8 (TP63)
  • Allelic: Rapp-Hodgkin syndrome (TP63)
  • Allelic: Warburg-Cinotti syndrome (DDR2)
  • ADULT syndrome (TP63)
  • Aarskog-Scott syndrome (FGD1)
  • Acampomelic campomelic dysplasia (SOX9)
  • Acheiropody (LMBR1)
  • Achondrogenesis Ib (SLC26A2)
  • Achondrogenesis, type IA (TRIP11)
  • Achondrogenesis, type II or hypochondrogenesis (COL2A1)
  • Acrocapitofemoral dysplasia (IHH)
  • Acrodysostosis 2, with/-out hormone resistance (PDE4D)
  • Acrofacial dysostosis 1, Nager type (SF3B4)
  • Acromelic frontonasal dysostosis (ZSWIM6)
  • Acromesomelic dysplasia, Demirhan type (BMPR1B)
  • Adams-Oliver syndrome 1 (ARHGAP31)
  • Adams-Oliver syndrome 2 (DOCK6)
  • Adams-Oliver syndrome 3 (RBPJ)
  • Adams-Oliver syndrome 4 (EOGT)
  • Adams-Oliver syndrome 5 (NOTCH1)
  • Adams-Oliver syndrome 6 (DLL4)
  • Amelia, posterior, with pelvic + pulmonary hypoplasia syndrome (TBX4)
  • Apert syndrome (FGFR2)
  • Atelosteogenesis, type II (SLC26A2)
  • Baller-Gerold syndrome (RECQL4)
  • Bardet-Biedl syndrome 1, 2, 3, 4, 5, 7, 9, 10, 12 (BBS1-2, ARL6, BBS4-5, BBS7, BBS9, BBS10, BBS12)
  • Bardet-Biedl syndrome 6, 8, 13, 15, 17 (MKKS, TTC8, MKS1, WDPCP, LZTFL1)
  • Bent bone dysplasia syndrome (FGFR2)
  • Bohring-Opitz syndrome (ASXL1)
  • Brachydactyly, type A1 (IHH)
  • Brachydactyly, type A1, A2, C (GDF5)
  • Brachydactyly, type A1, D + type A2 (BMPR1B)
  • Brachydactyly, type A2 (BMP2)
  • Brachydactyly, type B1 (ROR2)
  • Brachydactyly, type B2 (NOG)
  • Brachydactyly, type D, type E (HOXD13)
  • Brachydactyly, type E2 (PTHLH)
  • Brachydactyly-syndactyly syndrome (HOXD13)
  • CHILD syndrome (NSDHL)
  • CHOPS syndrome (AFF4)
  • Campomelic dysplasia (SOX9)
  • Campomelic dysplasia with autosomal sex reversal (SOX9)
  • Camptosynpolydactyly, complex (BHLHA9)
  • Carpenter syndrome (RAB23)
  • Carpenter syndrome 2 (MEGF8)
  • Catel-Manzke syndrome (TGDS)
  • Cenani-Lenz syndactyly syndrome (LRP4)
  • Char syndrome (TFAP2B)
  • Chondrodysplasia punctata, XLD (EBP)
  • Chondrodysplasia punctata, XLR (ARSE)
  • Chondrodysplasia, Grebe type (GDF5)
  • Clubfoot, congenital, with/-out deficiency of long bones and/or mirror-image polydactyly (PITX1)
  • Congenital heart defects, hamartomas of tongue + polysyndactyly (WDPCP)
  • Cornelia de Lange syndrome 1 (NIPBL)
  • Cornelia de Lange syndrome 2 (SMC1A)
  • Cornelia de Lange syndrome 3 (SMC3)
  • Cornelia de Lange syndrome 4 (RAD21)
  • Cornelia de Lange syndrome 5 (HDAC8)
  • Craniofacial-deafness-hand syndrome (PAX3)
  • Craniofacial-skeletal-dermatologic dysplasia (FGFR2)
  • Craniometaphyseal dysplasia, AR (GJA1)
  • Crouzon syndrome (FGFR2)
  • Crouzon syndrome with acanthosis nigricans (FGFR3)
  • Culler-Jones syndrome (GLI2)
  • Curry-Jones syndrome, somatic mosaic (SMO)
  • De la Chapelle dysplasia (SLC26A2)
  • Diamond-Blackfan anemia 1, 3, 4, 5, 6, 7, 8 (RPS19, RPS24, RPS17, RPL35A, RPL5, RPL11, RPS7)
  • Diamond-Blackfan anemia 9, 10 (RPS10, RPS26)
  • Diastrophic dysplasia (SLC26A2)
  • Diastrophic dysplasia, broad bone-platyspondylic variant (SLC26A2)
  • Du Pan syndrome (GDF5)
  • Duane-radial ray syndrome (SALL4)
  • Ectrodactyly, ectodermal dysplasia + cleft lip/palate syndrome 3 (TP63)
  • Ellis-van Creveld syndrome (EVC, EVC2)
  • Epiphyseal dysplasia, multiple, 4 (SLC26A2)
  • Fanconi anemia, complementation group A-C, D2, E-G, I, L (FANCA-C, -D2, -E-G, -I, -L)
  • Fanconi anemia, complementation group D1, N, J, P, Q, T (BRCA2, PALB2, BRIP2, SLX4, ERCC4, UBE2T)
  • Feingold syndrome 1 (MYCN)
  • Filippi syndrome (CKAP2L)
  • Focal dermal hypoplasia (PORCN)
  • Fraser syndrome 1 (FRAS1)
  • Fraser syndrome 2, 3 (FREM2, GRIP1)
  • Frontometaphyseal dysplasia 1 (FLNA)
  • Fuhrmann syndrome (WNT7A)
  • Greenberg skeletal dysplasia (LBR)
  • Greig cephalopolysyndactyly syndrome (GLI3)
  • Guttmacher syndrome (HOXA13)
  • Hand-foot-uterus syndrome (HOXA13)
  • Hartsfield syndrome (FGFR1)
  • Holt-Oram syndrome (TBX4)
  • Hypertension and brachydactyly syndrome (PDE3A)
  • Hypochondroplasia (FGFR3)
  • Hypophosphatasia, infantile (ALPL)
  • Hypoplastic or aplastic tibia with polydactyly (LMBR1)
  • IVIC syndrome (SALL4)
  • Ischiocoxopodopatellar syndrome with/-out pulmonary arterial hypertension (TBX4)
  • Jackson-Weiss syndrome (FGFR1, FGFR2)
  • Juberg-Hayward syndrome (ESCO2)
  • LADD syndrome (FGF10, FGFR2, FGFR3)
  • LADD syndrome (FGFR3)
  • Langer mesomelic dysplasia (SHOX)
  • Laurin-Sandrow syndrome (LMBR1)
  • Leri-Weill dyschondrosteosis (SHOX)
  • Liebenberg syndrome (PITX1)
  • Limb-mammary syndrome (TP63)
  • Lowry-Wood syndrome (RNU4ATAC)
  • MEND syndrome (EBP)
  • Mandibulofacial dysostosis, Guion-Almeida type (EFTUD2)
  • McKusick-Kaufman syndrome (MKKS)
  • Meckel syndrome 1, 2, 3, 4, 5, 6, 7 (MKS1, TMEM216, TMEM67, CEP290, RPGRIP1L, CC2D2A, NPHP3)
  • Meckel syndrome 8, 9, 10, 11, 12, 13 (TCTN2, B9D1, B9D2, TMEM231, KIF14, TMEM107)
  • Meckel syndrome [panelapp] (TXNDC15)
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 (PIK3R2)
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 (CCND2)
  • Melnick-Needles syndrome (FLNA)
  • Mental retardation, XL 99, syndromic, female-restricted (USP9X)
  • Mental retardation, XL syndromic 16 (FGD1)
  • Metacarpal 4-5 fusion (FGF16)
  • Metatropic dysplasia (TRPV4)
  • Microcephalic osteodysplastic primordial dwarfism, type I (RNU4ATAC)
  • Microcephalic osteodysplastic primordial dwarfism, type II (PCNT)
  • Microphthalmia with limb anomalies (SMOC1)
  • Microphthalmia, syndromic 6 (BMP4)
  • Muenke syndrome (FGFR3)
  • Multiple synostoses syndrome 1 (NOG)
  • Nail-patella syndrome (LMX1B)
  • Oculodentodigital dysplasia, AD + AR (GJA1)
  • Odontohypophosphatasia (ALPL)
  • Omodysplasia 2 (FZD2)
  • Orofacial cleft 11 (BMP4)
  • Orofaciodigital syndrome V (DDX59)
  • Osteoglophonic dysplasia (FGFR1)
  • Otopalatodigital syndrome, type I + II (FLNA)
  • Pallister-Hall syndrome (GLI3)
  • Pallister-Hall-like syndrome (SMO)
  • Pfeiffer syndrome (FGFR1, FGFR2)
  • Polydactyly, postaxial, types A1 + B; preaxial, type IV (GLI3)
  • Polydactyly, preaxial I + postaxial, type A8 (GLI1)
  • Polydactyly, preaxial type II (LMBR1)
  • Pyle disease (SFRP4)
  • RAPADILINO syndrome RECQL4)
  • RHYNS syndrome (TMEM67)
  • Radioulnar synostosis, nonsyndromic (SMAD6)
  • Roberts-SC phocomelia syndrome (ESCO2)
  • Robinow syndrome, AD 1 (WNT5A)
  • Robinow syndrome, AD 2 (DVL1)
  • Robinow syndrome, AD 3 (DVL3)
  • Robinow syndrome, AR (ROR2)
  • Robinow-Sorauf syndrome (TWIST1)
  • Roifman syndrome (RNU4ATAC)
  • Rothmund-Thomson syndrome, type 2 (RECQL4)
  • SADDAN (FGFR3)
  • SED, Maroteaux type (TRPV4)
  • STAR syndrome (CCNQ)
  • Saethre-Chotzen syndrome (FGFR2)
  • Saethre-Chotzen syndrome with/-out eyelid anomalies (TWIST1)
  • Scaphocephaly + Axenfeld-Rieger anomaly (FGFR2)
  • Scaphocephaly, maxillary retrusion + mental retardation (FGFR2)
  • Short stature, brachydactyly, intellectual developmental disability + seizures (PRMT7)
  • Short stature, facial dysmorphism + skeletal anomalies with/-out cardiac anomalies 1 (BMP2)
  • Short stature, idiopathic familial (SHOX)
  • Short-rib thoracic dysplasia 8 with/-out polydactyly (DYNC2I1 syn. WDR60)
  • Simpson-Golabi-Behmel syndrome, type 1 (GPC3)
  • Split-hand/foot malformation 1 (DLX5)
  • Split-hand/foot malformation 4 (TP63)
  • Split-hand/foot malformation 6 (WNT10B)
  • Spondylocostal dysostosis 1, AR (DLL3)
  • Spondyloepiphyseal dysplasia, congenita (COL2A1)
  • Spondylometaepiphyseal dysplasia, short limb-hand type (DDR2)
  • Spondylometaphyseal dysplasia, Kozlowski type (TRPV4)
  • Spondyloperipheral dysplasia (COL2A1)
  • Stickler syndrome, type I (COL2A1)
  • Stromme syndrome (CENPF)
  • Sweeney-Cox syndrome (TWIST1)
  • Symphalangism, proximal, 1A (NOG)
  • Symphalangism, proximal, 1B (GDF5)
  • Syndactyly, mesoaxial synostotic, phalangeal reduction (BHLHA9)
  • Syndactyly, type III (GJA1)
  • Syndactyly, type IV (LMBR1)
  • Syndactyly, type V (HOXD13)
  • Synpolydactyly 1 (HOXD13)
  • Tarsal-carpal coalition syndrome (NOG)
  • Temple-Baraitser syndrome (KCNH1)
  • Temtamy preaxial brachydactyly syndrome (CHSY1)
  • Thanatophoric dysplasia, type I + II (FGFR3)
  • Thrombocytopenia-absent radius syndrome (RBM8A)
  • Townes-Brocks branchiootorenal-like syndrome (SALL1)
  • Townes-Brocks syndrome 1 (SALL1)
  • Trichorhinophalangeal syndrome, type I, III (TRPS1)
  • Triphalangeal thumb, type I (LMBR1)
  • Triphalangeal thumb-polysyndactyly syndrome (LMBR1)
  • Ulna + fibula, absence of, with severe limb deficiency (WNT7A)
  • Ulnar-mammary syndrome (TBX3)
  • VACTERL association, XL (ZIC3)
  • Vertebral, cardiac, renal, and limb defects syndrome 2 (KYNU)
  • Waardenburg syndrome, type 1 + 3 (PAX3)
  • Weyers acrofacial dysostosis (EVC2, [EVC])
  • Yunis-Varon syndrome (FIG4)
  • [McCune-]Albright syndrome (GNAS)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder AR und/oder SMu
  • AD und/oder AR und/oder SMu und/oder Gen Fusion
  • AD und/oder AR und/oder SMu und/oder Impr
  • AD und/oder AR und/oder SMu und/oder Sus
  • AD und/oder Ass
  • AD und/oder Dig
  • AD und/oder Impr
  • AD und/oder Mult
  • AD und/oder SMu
  • AD und/oder SMu und/oder Impr
  • AD und/oder SMu und/oder Sus
  • AD und/oder Sus
  • AR
  • AR und/oder Dig
  • AR und/oder Sus
  • PD und/oder PR
  • XL
  • XLD
  • XLD und/oder Impr
  • XLD und/oder XLR
  • XLR
  • XLR und/oder SMu und/oder Sus
  • XLR und/oder Sus
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
M89.2-

Bioinformatik und klinische Interpretation

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