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ErkrankungKleinwuchs im Kindesalter, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Kleinwuchs im Kindesalter mit 12 bzw. 70 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
MP9801
Anzahl Gene
69 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
24,3 kb (Core-/Basis-Gene)
209,9 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
ACAN7593AD und/oder AR
CDKN1C951AD und/oder Sus
FGFR32421AD und/oder AR und/oder SMu
GH1654AD und/oder AR
GHR1917AD und/oder AR
GHRHR1272AR
IGF1462AR
IGF2543AD
IGFALS1818AR
PTPN111782AD und/oder SMu
SHOX879PD und/oder PR
SOS14002AD
ANKRD117992AD
ATR7935AD und/oder AR
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
CEP571476AR
COL1A14395AD
COL1A24101AD und/oder AR
COL2A14464AD
COL9A12766AD und/oder AR
CRIPT306AR
CUL75097AR
ERCC42751AR
ERCC64482AD und/oder AR und/oder SMu und/oder Sus
ERCC81191AR und/oder Sus
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
FBN18616AD und/oder Mult
FGD12886XLR
HMGA2330AD und/oder Gen Fusion
HRAS570AD und/oder SMu und/oder Sus
HSPG213176AR
IGF1R4104AD und/oder AR
KRAS567AD und/oder SMu und/oder Sus
LARP71770AR
LZTR12523AD und/oder AR und/oder SMu
MAP2K11182AD
MAP2K21203AD
NBN2265AR und/oder Ass
NIN4134AR
NPR23144AD und/oder AR
NRAS570AD und/oder SMu und/oder Sus
OBSL15691AR
PALB23561AD und/oder Sus
PIK3R12175AD und/oder AR
PLAG11503Gen Fusion
PTH1R1782AD und/oder AR
RAF11947AD
RIT1660AD
SHOC21749AD
SLX45505AR und/oder Sus
SOS23999AD
SRCAP9693AD und/oder Impr
STAT5B2364AR
TOP3A3006AR
TRIM372895AR und/oder Sus
UBE2T594AR
WNT5A1143AD und/oder Sus

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, infantile
  • Allelic: Beckwith-Wiedemann syndrome (CDKN1C)
  • Allelic: Bladder cancer, somatic (FGFR3)
  • Allelic: CATSHL syndrome (FGFR3)
  • Allelic: Cervical cancer, somatic (FGFR3)
  • Allelic: Colorectal cancer, somatic (FGFR3)
  • Allelic: Crouzon syndrome with acanthosis nigricans (FGFR3)
  • Allelic: Fibromatosis, gingival, 1 (SOS1)
  • Allelic: Hypercholesterolemia, familial, modifier of (GHR)
  • Allelic: Increased responsiveness to growth hormone (GHR)
  • Allelic: LADD syndrome (FGFR3)
  • Allelic: Leri-Weill dyschondrosteosis (SHOX)
  • Allelic: Leukemia, juvenile myelomonocytic, somatic (PTPN11)
  • Allelic: Metachondromatosis (PTPN11)
  • Allelic: Muenke syndrome (FGFR3)
  • Allelic: Nevus, epidermal, somatic (FGFR3)
  • Allelic: SADDAN (FGFR3)
  • Allelic: Spermatocytic seminoma, somatic (FGFR3)
  • Allelic: Thanatophoric dysplasia, type I-II (FGFR3)
  • -out juvenile myelomonocytic leukemia (CBL)
  • 3-M syndrome 1 (CUL7)
  • 3-M syndrome 2 (OBSL1)
  • 3-M syndrome 3 (CCDC8)
  • Aarskog-Scott syndrome (FGD1)
  • Achondroplasia (FGFR3)
  • Acid-labile subunit, deficiency of (IGFALS)
  • Acromesomelic dysplasia, Maroteaux type (NPR2)
  • Bloom syndrome (BLM)
  • Cardiofaciocutaneous syndrome (BRAF)
  • Cardiofaciocutaneous syndrome 2 (KRAS)
  • Cardiofaciocutaneous syndrome 3 (MAP3K1)
  • Cardiofaciocutaneous syndrome 4 (MAP2K2)
  • Cerebrooculofacioskeletal syndrome 1 (ERCC6)
  • Cockayne syndrome (ERCC4)
  • Cockayne syndrome, type A (ERCC8)
  • Cockayne syndrome, type B (ERCC6)
  • Coffin-Lowry syndrome (RPS6KA3)
  • 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)
  • Costello syndrome (HRAS)
  • Crouzon syndrome with acanthosis nigricans (FGFR3)
  • Culler-Jones syndrome (GLI2)
  • De Sanctis-Cacchione syndrome (ERCC6)
  • Encephalopathy, progressive, with amyotrophy + optic atrophy (TBCE)
  • Epiphyseal chondrodysplasia, Miura type (NPR2)
  • Epiphyseal dysplasia, multiple, 6 (COL9A1)
  • Fanconi anemia, complementation group A-L (FANCA-L)
  • Fanconi anemia, complementation group D1 (BRCA2)
  • Fanconi anemia, complementation group J (BRIP1)
  • Fanconi anemia, complementation group N (PALB2)
  • Fanconi anemia, complementation group P (SLX4)
  • Fanconi anemia, complementation group Q (ERCC4)
  • Fanconi anemia, complementation group T (UBE2T)
  • Floating-Harbor syndrome (SRCAP)
  • Growth hormone deficiency with pituitary anomalies (HESX1)
  • Growth hormone deficiency, isolated, type IA, IB, II (GH1)
  • Growth hormone deficiency, isolated, type IV (GHRHR)
  • Growth hormone insensitivity, partial (GHR)
  • Growth retardation with deafness and mental retardation due to IGF1 deficiency (IGF1)
  • Holoprosencephaly 9 (GLI2)
  • Hypochondroplasia (FGFR3)
  • Hypoparathyroidism-retardation-dysmorphism syndrome (TBCE)
  • IMAGE syndrome (CDKN1C)
  • Insulin-like growth factor I, resistance to (IGF1R)
  • Intellectual developmental disorder, XL 19 (RPS6KA3)
  • Intellectual developmental disorder, XL, syndromic, 35 (RPL10)
  • Intellectual developmental disorder, XL, with isolated growth hormone deficiency (SOX3)
  • Isolated growth hormone deficiency due to defect in GHRF (GHRH) 1
  • Isolated growth hormone deficiency, type III, with agammaglobulinemia (BTK)
  • KBG syndrome (ANKRD11)
  • Kabuki syndrome 1 (KMT2D)
  • Kabuki syndrome 2 (KDM6A)
  • Kenny-Caffey syndrome, type (TBCE)
  • Kowarski syndrome (GH1)
  • LEOPARD syndrome 1 (PTPN11)
  • LEOPARD syndrome 2 (RAF1)
  • LEOPARD syndrome 3 (BRAF)
  • LIG4 syndrome (LIG4)
  • Langer mesomelic dysplasia (SHOX)
  • Laron dwarfism (GHR)
  • Laurence-Moon syndrome (PNPLA6)
  • Leprechaunism (INSR)
  • Leri-Weill dyschondrosteosis (SHOX)
  • Lowry-Wood syndrome (RNU4ATAC)
  • MIRAGE syndrome (SAMD9)
  • Meier-Gorlin syndrome 1 (ORC1)
  • Meier-Gorlin syndrome 2 (ORC4)
  • Meier-Gorlin syndrome 3 (ORC6)
  • Meier-Gorlin syndrome 4 (CDT1)
  • Meier-Gorlin syndrome 5 (CDC6)
  • Mental retardation, XL syndromic 16 (FGD1)
  • Metachondromatosis (PTPN11)
  • Microcephalic osteodysplastic primordial dwarfism, type I (RNU4ATAC)
  • Microcephalic osteodysplastic primordial dwarfism, type II (PCNT)
  • Microcephaly, growth restriction + increased sister chromatid exchange 2 (TOP3A)
  • Microphthalmia, syndromic 3 (SOX2)
  • Mulibrey nanism (TRIM37)
  • Nijmegen breakage syndrome (NBN)
  • Noonan syndrome 1 (PTPN11)
  • Noonan syndrome 10 (LZTR1)
  • 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
  • Noonan syndrome-like with loose anagen hair 1 (SHOC2)
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, AR 5 (TOP3A)
  • Rabson-Mendenhall syndrome (INSR)
  • Robinow syndrome, AD 1 (WNT5A)
  • SADDAN (FGFR3)
  • SHORT syndrome (PIK3R1)
  • Short stature with microcephaly and distinctive facies (CRIPT)
  • Short stature with nonspecific skeletal abnormalities (NPR2)
  • Short stature, advanced bone age, early-onset osteoarthritis and/or osteochondritis dissecans (ACAN)
  • Short stature, idiopathic familial (SHOX)
  • 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)
  • Stickler syndrome, type IV (COL9A1)
  • 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 Mult
  • 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
  • XLR und/oder Sus
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
E34.3

Bioinformatik und klinische Interpretation

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