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ErkrankungKleinwuchs, frühe Kindheit; Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Kleinwuchs in früher Kindheit mit 3 Leitlinien-kuratierten Genen, 3 "core-candidate" sowie insgesamt 79 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
KP6431
Anzahl Gene
49 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
14,3 kb (Core-/Basis-Gene)
135,1 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
ACAN7593AD und/oder AR
GH1654AD und/oder AR
IGF1462AR
IGF1R4104AD und/oder AR
IGF2543AD
SHOX879PD und/oder PR
ANKRD117992AD
BLM4254AR und/oder Sus
BRAF2301AD und/oder SMu und/oder Sus
BRCA210257AD und/oder AR und/oder SMu und/oder Sus
BRIP13750AD und/oder Sus
CBL2721AD und/oder SMu
CCDC81617AR
CDKN1C951AD und/oder Sus
CUL75097AR
ERCC42751AR
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
FGFR32421AD und/oder AR und/oder SMu
HMGA2330AD und/oder Gen Fusion
HRAS570AD und/oder SMu und/oder Sus
KRAS567AD und/oder SMu und/oder Sus
LZTR12523AD und/oder AR und/oder SMu
MAP2K11182AD
MAP2K21203AD
NBN2265AR und/oder Ass
NRAS570AD und/oder SMu und/oder Sus
OBSL15691AR
PALB23561AD und/oder Sus
PIK3R12175AD und/oder AR
PLAG11503Gen Fusion
PPP1CB350AD
PTPN111782AD und/oder SMu
RAF11947AD
RIT1660AD
SHOC21749AD
SLX45505AR und/oder Sus
SOS14002AD
SOS23999AD
SRCAP9693AD und/oder Impr
TOP3A3006AR
TRIM372895AR und/oder Sus
UBE2T594AR

Infos zur Erkrankung

Klinischer Kommentar

Gruppe heterogener Erkrankungen: Kleinwuchs, optimalerweise definiert im Verhältnis zur genetischen Veranlagung des Individuums wird erkannt, indem die Körpergröße eines Individuums mit der einer großen Population mit ähnlichem genetischen Hintergrund verglichen wird, insbesondere unter Verwendung der mittleren elterlichen Zielgröße

 

Synonyme
  • Alias: Short stature, early infantile
  • Allelic: Adenocarcinoma of lung, somatic (BRAF)
  • Allelic: Adenomas, salivary gland pleomorphic, somatic (PLAG1)
  • Allelic: Agammaglobulinemia 7, AR (PIK3R1)
  • Allelic: Agammaglobulinemia, XL 1 (BTK)
  • Allelic: Aplastic anemia (NBN)
  • Allelic: Arteriovenous malformation of the brain, somatic (KRAS)
  • Allelic: Beckwith-Wiedemann syndrome (CDKN1C)
  • Allelic: Bladder cancer, somatic (FGFR3)
  • Allelic: Bladder cancer, somatic (HRAS)
  • Allelic: Bladder cancer, somatic (KRAS)
  • Allelic: Breast cancer, early-onset, susceptibility to (BRIP1)
  • Allelic: Breast cancer, male, susceptibility to (BRCA2)
  • Allelic: Breast cancer, somatic (KRAS)
  • Allelic: Breast cancer, susceptibility to (PALB2)
  • Allelic: Breast cancer, susceptibility to (RAD51)
  • Allelic: Breast-ovarian cancer, familial, 2 (BRCA2)
  • Allelic: CATSHL syndrome (FGFR3)
  • Allelic: Cardiofaciocutaneous syndrome (BRAF)
  • Allelic: Cardiofaciocutaneous syndrome 2 (KRAS)
  • Allelic: Cardiomyopathy, dilated, 1NN (RAF1)
  • Allelic: Cervical cancer, somatic (FGFR3)
  • Allelic: Colorectal cancer, somatic (BRAF)
  • Allelic: Colorectal cancer, somatic (FGFR3)
  • Allelic: Colorectal cancer, somatic (NRAS)
  • Allelic: Congenital myopathy with excess of muscle spindles (HRAS)
  • Allelic: Crouzon syndrome with acanthosis nigricans (FGFR3)
  • Allelic: Epidermal nevus, somatic (NRAS)
  • Allelic: Fibromatosis, gingival, 1 (SOS1)
  • Allelic: Gastric cancer, somatic (KRAS)
  • Allelic: Glioblastoma 3 (BRCA2)
  • Allelic: Immunodeficiency 36 (PIK3R1)
  • Allelic: Juvenile myelomonocytic leukemia (CBL)
  • Allelic: LADD syndrome (FGFR3)
  • Allelic: Leukemia, acute lymphoblastic (NBN)
  • Allelic: Leukemia, acute myeloid, somatic (KRAS)
  • Allelic: Leukemia, juvenile myelomonocytic, somatic (PTPN11)
  • Allelic: Lung cancer, somatic (KRAS)
  • Allelic: Medulloblastoma (BRCA2)
  • Allelic: Melanocytic nevus syndrome, congenital, somatic (NRAS)
  • Allelic: Melanoma, malignant, somatic (BRAF)
  • Allelic: Melorheostosis, isolated, somatic mosaic (MAP2K1)
  • Allelic: Metachondromatosis (PTPN11)
  • Allelic: Mirror movements 2 (RAD51)
  • Allelic: Muenke syndrome (FGFR3)
  • Allelic: Neurocutaneous melanosis, somatic (NRAS)
  • Allelic: Nevus sebaceous or woolly hair nevus, somatic (HRAS)
  • Allelic: Nevus, epidermal, somatic (FGFR3)
  • Allelic: Nonsmall cell lung cancer, somatic (BRAF)
  • Allelic: Oculoectodermal syndrome, somatic (KRAS)
  • Allelic: Ovarian carcinoma (RRAS2)
  • Allelic: Pancreatic cancer 2 (BRCA2)
  • Allelic: Pancreatic cancer, susceptibility to, 3 (PALB2)
  • Allelic: Pancreatic carcinoma, somatic (KRAS)
  • Allelic: Progressive external ophthalmoplegia with mitoch. DNA deletions, AR 5 (TOP3A)
  • Allelic: Prostate cancer (BRCA2)
  • Allelic: RAS-associated autoimmune leukoproliferative disorder (KRAS)
  • Allelic: RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic (NRAS)
  • Allelic: Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic (HRAS)
  • Allelic: Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic (KRAS)
  • Allelic: Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic (NRAS)
  • Allelic: Schwannomatosis-2, susceptibility to (LZTR1)
  • Allelic: Spermatocytic seminoma, somatic (FGFR3)
  • Allelic: Spitz nevus or nevus spilus, somatic (HRAS)
  • Allelic: Thyroid carcinoma, follicular, somatic (HRAS)
  • Allelic: Thyroid carcinoma, follicular, somatic (NRAS)
  • Allelic: Wilms tumor (BRCA2)
  • Allelic: Xeroderma pigmentosum, group F (ERCC4)
  • Allelic: Xeroderma pigmentosum, type F/Cockayne syndrome (ERCC4)
  • 3-M syndrome 1 (CUL7)
  • 3-M syndrome 2 (OBSL1)
  • 3-M syndrome 3 (CCDC8)
  • Achondroplasia (FGFR3)
  • Beckwith-Wiedemann syndrome (CDKN1C)
  • Bloom syndrome (BLM)
  • Cardiofaciocutaneous syndrome 3 (MAP2K1)
  • Cardiofaciocutaneous syndrome 4 (MAP2K2)
  • Congenital disorder of glycosylation, type IIj (COG4)
  • Costello syndrome (HRAS)
  • DNA damage repair defect [panelapp] (ZNF668)
  • Diabetes mellitus, transient neonatal 1 (ZFP57)
  • Diets-Jongmans syndrome (KDM3B)
  • FINCA [FIbrosis, Neurodegeneration + Cerebral Angiomatosis] syndrome (NHLRC2)
  • Failure to thrive + developmental delay [panelapp] (CCDC186)
  • Fanconi anemia, complementation group A (FANCA)
  • Fanconi anemia, complementation group B (FANCB)
  • Fanconi anemia, complementation group C (FANCC)
  • Fanconi anemia, complementation group D1 (BRCA2)
  • Fanconi anemia, complementation group D2 (FANCD2)
  • Fanconi anemia, complementation group E (FANCE)
  • Fanconi anemia, complementation group F (FANCF)
  • Fanconi anemia, complementation group G (FANCG)
  • Fanconi anemia, complementation group I (FANCI)
  • Fanconi anemia, complementation group J (BRIP1)
  • Fanconi anemia, complementation group L (FANCL)
  • Fanconi anemia, complementation group N (PALB2)
  • Fanconi anemia, complementation group P (SLX4)
  • Fanconi anemia, complementation group Q (ERCC4)
  • Fanconi anemia, complementation group R (RAD51)
  • Fanconi anemia, complementation group T (UBE2T)
  • Floating-Harbor syndrome (SRCAP)
  • Growth hormone deficiency, isolated, types IA, IB, II (GH1)
  • Growth retardation with deafness + mental retardation due to IGF1 deficiency (IGF1)
  • Hydatidiform mole, recurrent, 1 (NLRP7)
  • Hypochondroplasia (FGFR3)
  • IMAGE syndrome (CDKN1C)
  • Infantile liver failure syndrome 2 (NBAS)
  • Insulin-like growth factor I, resistance to (IGF1R)
  • Intellectual developmental disorder, AD 23 (SETD5)
  • Isolated growth hormone deficiency, type III, with agammaglobulinemia (BTK)
  • KBG syndrome (ANKRD11)
  • Kowarski syndrome (GH1))
  • LEOPARD syndrome 1 (PTPN11)
  • LEOPARD syndrome 2 (RAF1)
  • LEOPARD syndrome 3 (BRAF)
  • Langer mesomelic dysplasia (SHOX)
  • Leri-Weill dyschondrosteosis (SHOX)
  • Mandibuloacral dysplasia progeroid syndrome (MTX2)
  • Microcephaly + chorioretinopathy, AR, 2 (PLK4)
  • Microcephaly, growth deficiency, development delay, brain malform., face dysmor. [panelapp] (ZNF668)
  • Microcephaly, growth restriction, increased sister chromatid exchange 2 (TOP3A)
  • Mosaic variegated aneuploidy syndrome 2 (CEP57)
  • Mulibrey nanism (TRIM37)
  • Multiple congenital abnormalities [panelapp] (FOXP4)
  • Muscular dystrophy, congenital hearing loss + ovarian insufficiency syndrome (GGPS1)
  • Myopathy, mitochondrial + ataxia (MSTO1)
  • Neurodevelopmental disorder [panelapp] (FOXP4)
  • Neurodevelopmental disorder with cataracts, poor growth + dysmorphic facies (INTS1)
  • Neurodevelopmental disorder with microcephaly, seizures, neonatal cholestasis (VPS50)
  • Nijmegen breakage syndrome (NBN)
  • Noonan syndrome 1 (PTPN11)
  • Noonan syndrome 10 (LZTR1)
  • Noonan syndrome 11 (MRAS)
  • Noonan syndrome 12 (RRAS2)
  • Noonan syndrome 13 (MAPK1)
  • Noonan syndrome 14 (SPRED2)
  • Noonan syndrome 2 (LZTR1)
  • Noonan syndrome 3 (KRAS)
  • Noonan syndrome 4 (SOS1)
  • Noonan syndrome 5 (RAF1)
  • Noonan syndrome 6 (NRAS)
  • Noonan syndrome 7 (BRAF)
  • Noonan syndrome 8 (RIT1)
  • Noonan syndrome 9 (SOS2)
  • Noonan syndrome-like disorder with loose anagen hair 2 (PPP1CB)
  • Noonan syndrome-like disorder with/-out juvenile myelomonocytic leukemia (CBL)
  • Noonan syndrome-like with loose anagen hair 1 (SHOC2)
  • Pituitary hormone deficiency, combined or isolated, 7 (RNPC3)
  • Preimplantation embryonic lethality 2 (PADI6)
  • Rothmund-Thomson syndrome, type 1 (ANAPC1)
  • SADDAN (FGFR3)
  • SHORT syndrome (PIK3R1)
  • Saul-Wilson syndrome (COG4)
  • Short stature, advanced bone age, with/-out early-onset osteoarthr. and/or osteochondr. diss. (ACAN)
  • Short stature, idiopathic familial (SHOX)
  • Short stature, optic nerve atrophy + Pelger-Huet anomaly (NBAS)
  • Silver-Russell syndrome 3 (IGF2)
  • Silver-Russell syndrome 4 (PLAG1)
  • Silver-Russell syndrome 5 (HMGA2)
  • Spondyloepimetaphyseal dysplasia, aggrecan type (ACAN)
  • Spondyloepiphyseal dysplasia, Kimberley type (ACAN)
  • Syndromic intellectual disability, short stature [panelapp] (RAP1B)
  • Thanatophoric dysplasia, type I + II (FGFR3)
  • XFE progeroid syndrome (ERCC4)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder AR und/oder SMu
  • AD und/oder AR und/oder SMu und/oder Sus
  • AD und/oder Gen Fusion
  • AD und/oder Impr
  • AD und/oder SMu
  • AD und/oder SMu und/oder Sus
  • AD und/oder Sus
  • AR
  • AR und/oder Ass
  • AR und/oder Sus
  • Gen Fusion
  • PD und/oder PR
  • XLR und/oder Sus
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
E34.3

Bioinformatik und klinische Interpretation

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