©istock.com/Andrea Obzerova
Interdisziplinäre KompetenzMolekulare Diagnostik
Know how bei der Analyse von Erbmaterial.
Zum Wohle von Patienten.

ErkrankungLippen-Kiefer-Gaumen-(Gesichts-)Spalten, Differentialdiagnose

Zusammenfassung

Kurzinformation

Ein kuratiertes panel mit 141 Genen zur umfassenden Untersuchung von praktisch allen bekannten genetisch bedingten Formen von Lippen-Kiefer-Gaumen(-Gesichts-)Spalten

ID
LP6464
Anzahl Gene
140 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
12,7 kb (Core-/Basis-Gene)
415,1 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

[Sanger]

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
COL11A15421AD und/oder AR
COL2A14464AD
COL9A12766AD und/oder AR
ACTB1128AD
ACTG11128AD
AMER13408XL
ANKRD117992AD
ARHGAP293786AD
ARHGAP314335AD
ASXL14626AD und/oder SMu
B3GLCT1497AR
BCOR5166XLD und/oder SMu
BMP21191AD und/oder AR
C2CD35892AR
CC2D2A4863AR
CDH12649AD und/oder SMu und/oder Sus
CDKN1C951AD und/oder Sus
CHD78994AD und/oder Impr
CHRNG1554AR
CHST141131AR
CILK11899AR
COL11A25211AD und/oder AR
COLEC10840AR
COLEC11744AR
CPLANE19864AR
CTCF1200AD
CTNND12907AD
DHCR71428AR
DHODH1188AR
DLL42058AD
DOCK66144AR
DVL12013AD
DVL32261AD
DYNC2H112945AR und/oder Dig
DYNC2LI11438AR
EBP693XL
EDNRA1284AD und/oder Mult
EFNB11041XLD
EFTUD22919AD
EIF2S31419XLR
EIF4A31236AR
EOGT1584AR
EPG57740AR
ESCO21806AR
EYA11779AD
FAM20C1755AR
FGD12886XLR
FGFR12469AD und/oder Dig
FGFR22466AD und/oder Sus
FLNA7920XL
FLNB7809AD und/oder AR
FOXC21506AD
FRAS112039AR
GJA11149AD und/oder AR
GLI34743AD
GPC31743XLR und/oder SMu und/oder Sus
GRHL31671AD
HDAC81134XLD
HYLS1900AR
IFT1404389AR
IFT1725250AR
IFT802334AR
IMPAD11085
  • Keine OMIM-Gs verknüpft
AR
IRF61404AD
KAT6A6015AD und/oder Impr
KCNJ21284AD
KDM6A4206XLD und/oder Impr
KIAA05865005AR
KIF74032AR und/oder Dig
KMT2D16614AD und/oder SMu und/oder Sus und/oder Impr
MAP3K71838AD
MAPRE2855AD
MASP12187AR
MBTPS21560XLR
MEIS21413AD
MID12004XLR
MKS11680AR
MSX1912AD
MYMK671AR
NECTIN11554AR
NEDD4L2868AD
NEK13777AD und/oder AR und/oder Dig und/oder Sus
NIPBL8415AD und/oder Impr
NOTCH17668AD und/oder SMu
OFD13039XL
PAX31440AD und/oder AR und/oder SMu und/oder Gen Fusion
PHF83075XLR
PIEZO28259AD und/oder AR
PIGN2796AR
PIGV1482AR
POLR1C1041AR
POLR1D402AD und/oder AR
PORCN1386XLD
PTCH14344AD und/oder SMu
RBM102793XLR
ROR22832AD und/oder AR
RPL5894AD
RPS26348AD
SALL43162AD
SATB22202AD
SCARF22613AR
SF3B41275AD
SHH1389AD und/oder Dig
SIX1855AD
SIX3999AD und/oder AR
SIX52220AD
SKI2187AD
SLC26A22220AR
SMAD31278AD
SMAD41659AD und/oder SMu und/oder Sus
SMC1A3702XLD und/oder Impr
SMC33654AD und/oder SMu und/oder Impr
SMS942XLR und/oder Impr
SNRPB696AD
SON7556AD
SOX91530AD
SPECC1L3354AD
STAMBP1275AR
TBX221563XL
TCOF14467AD
TCTN31824AR
TELO22514AR
TFAP2A1296AD
TGDS1053AR
TGFB31239AD
TGFBR11512AD
TGFBR21704AD
TMCO1720AR
TP632043AD und/oder Sus
TRAPPC93741AR und/oder Dig
TRIM372895AR und/oder Sus
TUBB1335AD
TXNL4A429AR
USP9X7713XLD und/oder XLR
WNT5A1143AD und/oder Sus
XYLT12880AR
ZEB23645AD
ZIC21599AD
ZIC31404XLR
ZSWIM63648AD

Infos zur Erkrankung

Klinischer Kommentar

Gruppe von Erkrankungen

 

Synonyme
  • (Syndromic) clefting
  • Familial non-syndromic cleft lip and/or familial cleft palate
  • Familial non-syndromic clefting
  • Syndromic cleft lip and/or cleft palate
  • Allelic: Triatrial heart [MONDO:0015450] (HYAL2)
  • 3MC syndrome 1 (MASP1)
  • 3MC syndrome 3 (COLEC10)
  • ADULT syndrome (TP63)
  • Aarskog-Scott syndrome (FGD1)
  • Abruzzo-Erickson syndrome (TBX22)
  • Acampomelic campomelic dysplasia (SOX9)
  • Achondrogenesis Ib (SLC26A2)
  • Achondrogenesis, type II or hypochondrogenesis (COL2A1)
  • Acrocallosal syndrome (KIF7)
  • Acrofacial dysostosis 1, Nager type (SF3B4)
  • Acromelic frontonasal dysostosis (ZSWIM6)
  • Adams-Oliver syndrome 1 (ARHGAP31)
  • Adams-Oliver syndrome 2 (DOCK6)
  • Adams-Oliver syndrome 4 (EOGT)
  • Adams-Oliver syndrome 5 (NOTCH1)/Aortic valve disease 1 (NOTCH1)
  • Adams-Oliver syndrome 6 (DLL4)
  • Al-Gazali-Bakalinova syndrome (KIF7)
  • Andersen syndrome (KCNJ2)
  • Anterior segment anomalies with/-out cataract (EYA1)
  • Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis (FGFR2)
  • Aortic valve disease 1 (NOTCH1)
  • Apert syndrome (FGFR2)
  • Arboleda-Tham syndrome (KAT6A)
  • Arrhythmogenic right ventricular dysplasia 1 (TGFB3)
  • Arthrogryposis, distal, type 3 (PIEZO2)
  • Arthrogryposis, distal, type 5 (PIEZO2)
  • Arthrogryposis, distal, with impaired proprioception + touch (PIEZO2)
  • Atelosteogenesis, type I (FLNB)
  • Atelosteogenesis, type II (SLC26A2)
  • Atelosteogenesis, type III (FLNB)
  • Atrial fibrillation, familial, 9 (KCNJ2)
  • Avascular necrosis of the femoral head (COL2A1)
  • Baraitser-Winter syndrome 1 (ACTB)
  • Baraitser-Winter syndrome 2 (ACTG)
  • Bardet-Biedl syndrome 13 (MKS1)
  • Bardet-Biedl syndrome 20 (IFT172)
  • Basal cell nevus syndrome (PTCH1)
  • Basel-Vanagait-Smirin-Yosef syndrome (MED25)
  • Beare-Stevenson cutis gyrata syndrome (FGFR2)
  • Beckwith-Wiedemann syndrome (CDKN1C)
  • Bent bone dysplasia syndrome (FGFR2)
  • Blepharocheilodontic syndrome 1 (CDH1)
  • Blepharocheilodontic syndrome 2 (CTNND1)
  • Bohring-Opitz syndrome (ASXL1)
  • Boomerang dysplasia (FLNB)
  • Brachydactyly, type A2 (BMP2)
  • Brachydactyly, type B1(ROR2)
  • Branchiooculofacial syndrome (TFAP2A)
  • Branchiootic syndrome 1 (EYA1)
  • Branchiootic syndrome 3 (SIX1)
  • Branchiootorenal syndrome 1, with/-out cataracts (EYA1)
  • Branchiootorenal syndrome 2 (SIX5)
  • Burn-McKeown syndrome (TXNL4A)
  • CHARGE syndrome (CHD7)
  • COACH syndrome 2 (CC2D2A)
  • Campomelic dysplasia (SOX9)
  • Campomelic dysplasia with autosomal sex reversal (SOX9)
  • Cardiac valvular dysplasia, XL (FLNA)
  • Cardiospondylocarpofacial syndrome (MAP3K7)
  • Carey-Fineman-Ziter syndrome (MYMK)
  • Catel-Manzke syndrome (TGDS)
  • Cerebrocostomandibular syndrome (SNRPB)
  • Chondrodysplasia punctata, XLD (EBP)
  • Chondrodysplasia with joint dislocations, GPAPP type (IMPAD1)
  • Cleft lip with/-out cleft palate [panelapp] (ARHGAP29)
  • Cleft lip/palate [MONDO:0016044] (HYAL2)
  • Cleft lip/palate-ectodermal dysplasia syndrome (NECTIN1)
  • Cleft palate with ankyloglossia (TBX22)
  • Cleft palate, cardiac defects + mental retardation (MEIS2)
  • Colorectal cancer, hereditary nonpolyposis, type 6 (TGFBR2)
  • Congenital heart defects, nonsyndromic, 1, XL (ZIC3)
  • Congenital short bowel syndrome (FLNA)
  • Cornelia de Lange syndrome 1 (NIPBL)
  • Cornelia de Lange syndrome 2 (SMC1A)
  • Cornelia de Lange syndrome 3 (SMC3)
  • Cornelia de Lange syndrome 5 (HDAC8)
  • Cortical dysplasia, complex, with other brain malformations 6 (TUBB)
  • Craniofacial dysmorphism, skeletal anomalies + mental retardation syndrome (TMCO1)
  • Craniofacial-deafness-hand syndrome PAX3)
  • Craniofacial-skeletal-dermatologic dysplasia (FGFR2)
  • Craniofrontonasal dysplasia (EFNB1)
  • Craniosynostosis, nonspecific (FGFR2)
  • Crouzon syndrome (FGFR2)
  • Czech dysplasia (COL2A1)
  • De la Chapelle dysplasia (SLC26A2)
  • Deafness, AD 13 (COL11A2)
  • Deafness, AD 20/26 (ACTG)
  • Deafness, AD 23 (SIX1)
  • Deafness, AD 37 (COL11A1)
  • Deafness, AR 53 (COL11A2)
  • Desbuquois dysplasia 2 (XYLT1)
  • Developmental + epileptic encephalopathy 85, with/-out midline brain defects (SMC1A)
  • Diamond-Blackfan anemia 10 (RPS26)
  • Diamond-Blackfan anemia 6 (RPL5)
  • Diastrophic dysplasia (SLC26A2)
  • Diastrophic dysplasia, broad bone-platyspondylic variant (SLC26A2)
  • Duane-radial ray syndrome (SALL4)
  • Dystonia, juvenile-onset (ACTB)
  • Ectodermal dysplasia 3, Witkop type (MSX1)
  • Ectrodactyly, ectodermal dysplasia + cleft lip
  • Ehlers-Danlos syndrome, musculocontractural type 1 (CHST14)
  • Endocrine-cerebroosteodysplasia (CILK1)
  • Epiphyseal dysplasia, multiple, 4 (SLC26A2)
  • Epiphyseal dysplasia, multiple, 6 (COL9A1)
  • Epiphyseal dysplasia, multiple, with myopia and deafness (COL2A1)
  • Escobar syndrome (CRNG)
  • FG syndrome 2 (FLNA)
  • Facial clefting, oblique, 1 (SPECC1L)
  • Fibrochondrogenesis 1 (COL11A1)
  • Fibrochondrogenesis 2 (COL11A2)
  • Focal dermal hypoplasia (PORCN)
  • Fraser syndrome 1 (FRAS1)
  • Frontometaphyseal dysplasia (MAP3K7)
  • Frontometaphyseal dysplasia 1 (FLNA)
  • Gastric cancer, hereditary diffuse, with/-out cleft lip and/or palate (CDH1)
  • Glass syndrome (SATB2)
  • Goldberg-Shprintzen megacolon syndrome (KIFBP)
  • Greig cephalopolysyndactyly syndrome (GLI3)
  • Hartsfield syndrome (FGFR1)
  • Hay-Wells syndrome (TP63)
  • Heterotaxy, visceral, 1, XL (ZIC3)
  • Heterotopia, periventricular, 1 (FLNA)
  • Holoprosencephaly 2 SIX3)
  • Holoprosencephaly 3 (SHH)
  • Holoprosencephaly 5 (ZIC2)
  • Holoprosencephaly 7 (PTCH1)
  • Hydrolethalus syndrome (HYLS1)
  • Hydrolethalus syndrome 2 (KIF7)
  • Hyperphosphatasia with mental retardation syndrome 1 (PIGV)
  • Hypogonadotropic hypogonadism 2 with/-out anosmia (FGFR1)
  • Hypogonadotropic hypogonadism 5 with/-out anosmia (CHD7)
  • IFAP syndrome with/-out BRESHECK syndrome (MBTPS2)
  • IMAGE syndrome (CDKN1C)
  • IVIC syndrome (SALL4)
  • Intellectual developmental disorder, XL 99 (USP9X)
  • Intellectual developmental disorder, XL 99, syndromic, female-restricted (USP9X)
  • Intellectual developmental disorder, XL syndromic, Snyder-Robinson type (SMS)
  • Intellectual developmental disorder, XL, syndromic, Siderius type (PHF8)
  • Intestinal pseudoobstruction, neuronal (FLNA)
  • Jackson-Weiss syndrome (FGFR1)
  • Jackson-Weiss syndrome (FGFR2)
  • Joubert syndrome 10 (OFD1)
  • Joubert syndrome 12 (KIF7)
  • Joubert syndrome 17 (C5orf42)
  • Joubert syndrome 18 (TCTN3)
  • Joubert syndrome 23 (KIAA0586)
  • Joubert syndrome 28 (MKS1)
  • Joubert syndrome 9 (CC2D2A)
  • Juberg-Hayward syndrome (ESCO2)
  • Juvenile polyposis
  • KBG syndrome (ANKRD11)
  • Kabuki syndrome 1 (KMT2D)
  • Kabuki syndrome 2 (KDM6A)
  • Keratosis follicularis spinulosa decalvans, XL (MBTPS2)
  • Kniest dysplasia (COL2A1)
  • LADD syndrome (FGFR2)
  • Larsen syndrome (FLNB)
  • Legg-Calve-Perthes disease (COL2A1)
  • Leukodystrophy, hypomyelinating, 11 (POLR1C
  • Limb-mammary syndrome (TP63)
  • Loeys-Dietz syndrome 1 (TGFBR1)
  • Loeys-Dietz syndrome 2 (TGFBR2)
  • Loeys-Dietz syndrome 3 (SMAD3)
  • Loeys-Dietz syndrome 5 (TGFB3)
  • Lymphedema-distichiasis syndrome (FOXC2)
  • Lymphedema-distichiasis syndrome with renal disease + diabetes mellitus (FOXC2)
  • MEHMO syndrome (EIF2S3)
  • MEND syndrome (EBP)
  • Mandibulofacial dysostosis with alopecia (EDNRA)
  • Mandibulofacial dysostosis, Guion-Almeida type (EFTUD2)
  • Marden-Walker syndrome (PIEZO2)
  • Marshall syndrome (COL11A1)
  • Meckel syndrome 1 (MKS1)
  • Meckel syndrome 6 (CC2D2A)
  • Melnick-Needles syndrome (FLNA)
  • Mental retardation, AD 21 (CTCF(`)
  • Mental retardation, AR 13 (TRAPPC9)
  • Mental retardation, XL syndromic 16 (FGD1)
  • Microcephaly-capillary malformation syndrome (STAMBP)
  • Microphthalmia with coloboma 5 (SHH)
  • Microphthalmia, syndromic 2 (BCOR)
  • Miller syndrome (DHODH)
  • Mowat-Wilson syndrome (ZEB2)
  • Mulibrey nanism (TRIM37)
  • Multiple congenital anomalies-hypotonia-seizures syndrome 1 (PIGN)
  • Multiple pterygium syndrome, lethal type (CRNG)
  • Multiple self-healing squamous epithelioma, susceptibility to (TGFBR1)
  • Myhre syndrome (SMAD4) 3
  • Neurodevelopmental disorder with movement abnormalities, abnormal gait, autistic features (ZSWIM6)
  • Olmsted syndrome, XL (MBTPS2)
  • Opitz GBBB syndrome, type I (MID1)
  • Opitz GBBB syndrome, type II (SPECC1L)
  • Orofacial cleft 5 (MSX1)
  • Orofacial cleft 6 (IRF6)
  • Orofacial cleft 7 (NECTIN1)
  • Orofacial cleft 8 (TP63)
  • Orofaciodigital syndrome I (OFD1)
  • Orofaciodigital syndrome IV (TCTN3)
  • Orofaciodigital syndrome VI (C5orf42)
  • Orofaciodigital syndrome XIV (C2CD3)
  • Osteoarthritis with mild chondrodysplasia (COL2A1)
  • Osteogenesis imperfecta, type XIX (MBTPS2)
  • Osteoglophonic dysplasia (FGFR1)
  • Osteopathia striata with cranial sclerosis (AMER1)
  • Otofaciocervical syndrome (EYA1)
  • Otopalatodigital syndrome, type I (FLNA)
  • Otopalatodigital syndrome, type II (FLNA)
  • Otospondylomegaepiphyseal dysplasia, AD + AR (COL11A2)
  • Pallister-Hall syndrome (GLI3)
  • Periventricular nodular heterotopia 7 (NEDD4L)
  • Peters-plus syndrome (B3GLCT)
  • Pfeiffer syndrome (FGFR1)
  • Pfeiffer syndrome (FGFR2)
  • Platyspondylic skeletal dysplasia, Torrance type (COL2A1)
  • Polydactyly, postaxial, types A1 + B (GLI3)
  • Polydactyly, preaxial, type IV (GLI3)
  • Polyposis, juvenile intestinal (SMAD4)
  • Popliteal pterygium syndrome 1 (IRF6)
  • Raine syndrome (FAM20C)
  • Rapp-Hodgkin syndrome (TP63)
  • Retinitis pigmentosa 23 (OFD1)
  • Retinitis pigmentosa 71 (IFT172)
  • Retinitis pigmentosa 80 (IFT140)
  • Rhabdomyosarcoma 2, alveolar (PAX3)
  • Roberts-SC phocomelia syndrome (ESCO2)
  • Robin sequence with cleft mandible + limb anomalies (EIF4A3)
  • Robinow syndrome, AD 1 (WNT5A)
  • Robinow syndrome, AD 2 (DVL1)
  • Robinow syndrome, AD 3 (DVL3)
  • Robinow syndrome, AR (ROR2)
  • SED congenita (COL2A1)
  • SMED Strudwick type (COL2A1)
  • Saethre-Chotzen syndrome (FGFR2)
  • Scaphocephaly + Axenfeld-Rieger anomaly (FGFR2)
  • Scaphocephaly, maxillary retrusion + mental retardation (FGFR2)
  • Schizencephaly (SHH)
  • Schizencephaly (SIX3)
  • Short QT syndrome 3 (KCNJ2)
  • Short stature, facial dysmorphism + skeletal anomalies with/-out cardiac anomalies 1 (BMP2)
  • Short-rib thoracic dysplasia 10 with/-out polydactyly (IFT172)
  • Short-rib thoracic dysplasia 14 with polydactyly (KIAA0586)
  • Short-rib thoracic dysplasia 15 with polydactyly (DYNC2LI1)
  • Short-rib thoracic dysplasia 2 with/-out polydactyly (IFT80)
  • Short-rib thoracic dysplasia 3 with/-out polydactyly (DYNC2H1)
  • Short-rib thoracic dysplasia 6 with or without polydactyly (NEK1)
  • Short-rib thoracic dysplasia 9 with/-out polydactyly (IFT140)
  • Shprintzen-Goldberg syndrome (SKI)
  • Simpson-Golabi-Behmel syndrome, type 1 (GPC3)
  • Simpson-Golabi-Behmel syndrome, type 2 (OFD1)
  • Single median maxillary central incisor (SHH)
  • Smith-Lemli-Opitz syndrome (DHCR7)
  • Spondylocarpotarsal synostosis syndrome (FLNB)
  • Spondyloepiphyseal dysplasia, Stanescu type (COL2A1)
  • Spondyloperipheral dysplasia (COL2A1)
  • Stickler sydrome, type I, nonsyndromic ocular (COL2A1)
  • Stickler syndrome, type I (COL2A1)
  • Stickler syndrome, type II (COL11A1)
  • Stickler syndrome, type IV (COL9A1)
  • Symmetric circumferential skin creases, congenital, 1 (TUBB)
  • Symmetric circumferential skin creases, congenital, 2 (MAPRE2)
  • TARP syndrome (RBM10)
  • Teebi hypertelorism syndrome (SPECC1L)
  • Terminal osseous dysplasia (FLNA)
  • Tooth agenesis, selective, 1, with/-out orofacial cleft (MSX1)
  • Treacher Collins syndrome 1 (TCOF1)
  • Treacher Collins syndrome 2 (POLR1D)
  • Treacher Collins syndrome 3 (POLR1C)
  • Treacher-Collins syndrome 4 (POLR1B)
  • Trigonocephaly 1 (FGFR1)
  • VACTERL association, XL (ZIC3)
  • VICI syndrome (EPG5)
  • Van den Ende-Gupta syndrome (SCARF2)
  • Van der Woude syndrome (IRF6)
  • Van der Woude syndrome 2 (GRHL3)
  • Vitreoretinopathy with phalangeal epiphyseal dysplasia (COL2A1)
  • Waardenburg syndrome, type 1 (PAX3)
  • Waardenburg syndrome, type 3 (PAX3)
  • You-Hoover-Fong syndrome (TELO2)
  • ZTTK syndrome (SON)
  • foot malformation 4 (TP63)
  • hereditary hemorrhagic telangiectasia syndrome (SMAD4)
  • palate syndrome 3 (TP63)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder AR und/oder Dig und/oder Sus
  • AD und/oder AR und/oder SMu und/oder Gen Fusion
  • 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 SMu und/oder Sus und/oder Impr
  • AD und/oder Sus
  • AR
  • AR und/oder Dig
  • AR und/oder Sus
  • XL
  • XLD
  • XLD und/oder Impr
  • XLD und/oder SMu
  • XLD und/oder XLR
  • XLR
  • XLR und/oder Impr
  • XLR und/oder SMu und/oder Sus
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q37.8

Bioinformatik und klinische Interpretation

Kein Text hinterlegt