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Klinische FragestellungKleinwuchs 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
71 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
24,3 kb (Core-/Core-canditate-Gene)
220,9 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GReferenz-Seq.Erbgang
ACAN7593NM_013227.4AD, AR
CDKN1C951NM_000076.2AD
FGFR32421NM_000142.5AD
GH1654NM_000515.5AD, AR
GHR1917NM_000163.5AR, AD
GHRHR1272NM_000823.4AR
IGF1462NM_000618.5AR
IGF2543NM_000612.6AD
IGFALS1818NM_004970.3AR
PTPN111782NM_002834.5AD
SHOX879NM_000451.3, NM_006883.2PD/PR
SOS14002NM_005633.4AD
ANKRD117992NM_013275.6AD
ATR7935NM_001184.4AR
BLM4254NM_000057.4AR
BRAF2301NM_004333.6AD
BRCA210257NM_000059.4AR
BRIP13750NM_032043.3AR
CBL2721NM_005188.4AD
CCDC81617NM_032040.5AR
CEP571476NM_001243776.2AR
COL1A14395NM_000088.4AD
COL1A24101NM_000089.4AD
COL2A14464NM_001844.5AD
COL9A12766NM_001851.6AD, AR
CRIPT306NM_014171.6AR
CUL75097NM_014780.5AR
ERCC42751NM_005236.3AR
ERCC64482NM_000124.4AR
ERCC81191NM_000082.4AR
FANCA4368NM_000135.4AR
FANCB2580NM_001018113.3XL
FANCC1677NM_000136.3AR
FANCE1611NM_021922.3AR
FANCF1125NM_022725.4AR
FANCG1869NM_004629.2AR
FANCI3987NM_001113378.2AR
FANCL1128NM_018062.4AR
FBN18616NM_000138.5AD
FGD12886NM_004463.3XLR
HMGA2330NM_003483.6AD
HRAS570NM_005343.4AD
HSPG213176NM_005529.7AR
IGF1R4104NM_000875.5AD, AR
KRAS567NM_004985.5AD
LARP71770NM_001267039.2AR
LZTR12523NM_006767.4AD, AR
MAP2K11182NM_002755.4AD
MAP2K21203NM_030662.4AD
NBN2265NM_002485.5AR
NF18457NM_001042492.3AD
NIN4134NM_016350.5AR
NPR23144NM_003995.4AD, AR
NRAS570NM_002524.5AD
OBSL15691NM_015311.3AR
PALB23561NM_024675.4AR
PIK3R12175NM_181523.3AD
PLAG11503NM_002655.3Gen Fusion
PTH1R1782NM_000316.3AD, AR
RAF11947NM_002880.4AD
RASA22550NM_006506.5AD
RIT1660NM_006912.6AD
SHOC21749NM_007373.4AD
SLX45505NM_032444.4AR
SOS23999NM_006939.4AD
SRCAP9693NM_006662.3AD
STAT5B2364NM_012448.4AR, AD
TOP3A3006NM_004618.5AR
TRIM372895NM_015294.6AR
UBE2T594NM_014176.4AR
WNT5A1143NM_003392.7AD

Infos zur Erkrankung

Klinischer Kommentar

Die Körpergröße des Menschen ist ein ausgesprochen polygenes Merkmal mit ~80%iger Erblichkeit. Mehr als 700 häufige genetische Varianten erklären 20% der Größenvariation in der Normalbevölkerung. Kleinwuchs ist definiert als Körpergröße, die 2 Standardabweichungen oder mehr unter der mittleren Körpergröße für Kinder dieses Geschlechts und chronologischen Alters in einer gegebenen Population liegt. Dies entspricht einer Körpergröße, die unter der 2,3-Perzentile liegt. Kleinwuchs wird vor allem im Kleinkindalter auffällig, da hier normalerweise größere Wachstumsschübe ablaufen. Das Ursachen-Spektrum ist außerordentlich heterogen. Zu den endogenen Auslösern zählen genetisch bedingte endokrine Störungen, Chromosomenanomalien, Stoffwechselerkrankungen sowie syndromaler Kleinwuchs. Weitere Ursachen für Kleinwuchs sind familiäre und konstitutionelle Verzögerung von Wachstum und Pubertät. Fast jede schwere Systemerkrankung kann zu reduziertem Wachstum als sekundärer Auswirkung führen. Monogen bedingter Kleinwuchs kann allen klassischen Erbschemata folgen. Weiterhin sind eine Vielzahl von genetischen Syndromen und angeborenen Fehlbildungen mit Kleinwuchs assoziiert. Systematische Phänotypisierung und umfangreiche genetische Tests ermöglichen in >30% der Fälle, die Entstehung des Kleinwuchses zu eruieren. Aber ein unauffälliger genetischer Befund bedeutet keinen sicheren Ausschluss der genetischen Beteiligung.

Referenzen: https://www.ncbi.nlm.nih.gov/books/NBK1215/

https://pubmed.ncbi.nlm.nih.gov/28476223/

 

Synonyme
  • Alias: Short stature, infantile
  • Allelic: Beckwith-Wiedemann syndrome (CDKN1C)
  • Allelic: Bladder cancer, somatic (FGFR3)
  • Allelic: Breast cancer, susceptibility to (RAD51)
  • 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: Hydatidiform mole, recurrent, 1 (NLRP7)
  • 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 (NF1)
  • Allelic: Leukemia, juvenile myelomonocytic, somatic (PTPN11)
  • Allelic: Metachondromatosis (PTPN11)
  • Allelic: Mirror movements 2 (RAD51)
  • Allelic: Muenke syndrome (FGFR3)
  • Allelic: Multi Locus Imprinting Disturbance (PADI6)
  • Allelic: Neurofibromatosis, familial spinal (NF1)
  • Allelic: Neurofibromatosis, type 1 (NF1)
  • Allelic: Nevus, epidermal, somatic (FGFR3)
  • Allelic: Oocyte/zygote/embryo maturation arrest 16 (PADI6)
  • Allelic: Oocyte/zygote/embryo maturation arrest 18 (NLRP2)
  • Allelic: Preimplantation embryonic lethality 2 [MONDO:0014978, panelapp] (PADI6)
  • Allelic: SADDAN (FGFR3)
  • Allelic: Spermatocytic seminoma, somatic (FGFR3)
  • Allelic: Thanatophoric dysplasia, type I-II (FGFR3)
  • Allelic: Watson syndrome (NF1)
  • 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)
  • Allelic: Infantile liver failure syndrome 2 (NBAS)
  • Allelic: Ovarian carcinoma (RRAS2)
  • 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)
  • Diabetes mellitus, transient neonatal 1 (ZFP57)
  • Diabetes mellitus, transient neonatal, 1; IUGR [MONDO:0011073] (ZFP57)
  • Diets-Jongmans syndrome (KDM3B)
  • Encephalopathy, progressive, with amyotrophy + optic atrophy (TBCE)
  • Epiphyseal chondrodysplasia, Miura type (NPR2)
  • Epiphyseal dysplasia, multiple, 6 (COL9A1)
  • FINCA syndrome: FIbrosis, Neurodegeneration +Cerebral Angiomatosis (NHLRC2)
  • Failure to thrive, developmental delay [panelapp] (CCDC186)
  • 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 R (RAD51)
  • 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)
  • IUGR phenotypes caused by maternal effect gene IUGR [panelapp] (NLRP2)
  • Insulin-like growth factor I, resistance to (IGF1R)
  • Intellectual developmental disorder, AD 23 (SETD5)
  • 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)
  • Mandibuloacral dysplasia progeroid syndrome (MTX2)
  • 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 dysplasia, Saul-Wilson type [MONDO:0019407, panelapp] (ANAPC1)
  • Microcephalic osteodysplastic primordial dwarfism, type I (RNU4ATAC)
  • Microcephalic osteodysplastic primordial dwarfism, type II (PCNT)
  • Microcephaly and chorioretinopathy, AR, 2 (PLK4)
  • Microcephaly, growth restriction + increased sister chromatid exchange 2 (TOP3A)
  • Microphthalmia, syndromic 3 (SOX2)
  • Mulibrey nanism (TRIM37)
  • Muscular dystrophy, congenital hearing loss, ovarian insufficiency syndrome (GGPS1)
  • Myopathy, mitochondrial + ataxia (MSTO1)
  • Neurodevelopmental disorder with microcephaly, seizures, neonatal cholestasis (VPS50)
  • Neurodevelopmental disorder, cataracts, poor growth, dysmorphic facies (INTS1)
  • Neurodevelopmental disorder, multiple congenital abnormalities (FOXP4)
  • Neurodevelopmental disorder, poor growth, large ears, dysmorphic face (ZNF668)
  • Neurofibromatosis-Noonan syndrome (NF1)
  • 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 [panelapp] (RASA2)
  • Noonan syndrome-like disorder +/- juvenile myelomonocytic leukemia (CBL)
  • Noonan syndrome-like disorder with loose anagen hair 2 (PPP1CB)
  • Noonan syndrome-like with loose anagen hair 1 (SHOC2)
  • Pituitary hormone deficiency, combined or isolated, 7 (RNPC3)
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, AR 5 (TOP3A)
  • Rabson-Mendenhall syndrome (INSR)
  • Robinow syndrome, AD 1 (WNT5A)
  • Rothmund-Thomson syndrome, type 1 (ANAPC1)
  • SADDAN (FGFR3)
  • SHORT syndrome (PIK3R1)
  • Short stature with microcephaly and distinctive facies (CRIPT)
  • Short stature with nonspecific skeletal abnormalities (NPR2)
  • Short stature, IUGR [panelapp] (PADI6)
  • Short stature, IUGR, failure to thrive, body asymmetry [panelapp] (NLRP5)
  • Short stature, IUGR, fetal wastage [panelapp] (NLRP7)
  • Short stature, advanced bone age, early-onset osteoarthritis and/or osteochondritis dissecans (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)
  • Stickler syndrome, type IV (COL9A1)
  • Syndromic ID, short stature [panelapp] (RAP1B)
  • Thanatophoric dysplasia, type I + II (FGFR3)
  • XFE progeroid syndrome (ERCC4)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AR
  • Gen Fusion
  • PD/PR
  • XL
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatik und klinische Interpretation

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