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ErkrankungKleinwuchs, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Kleinwuchs mit 2 Leitlinien-kuratierten und weiteren 14 bzw. insegesamt 104 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
KP3002
Anzahl Gene
102 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
27,2 kb (Core-/Basis-Gene)
294,4 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
BTK1980XLR und/oder SMu
GH1654AD und/oder AR
GHR1917AD und/oder AR
GHRHR1272AR
HESX1558AD und/oder AR
IGF1462AR
IGF1R4104AD und/oder AR
IGF2543AD
LHX31209AR
LHX41173AD
OTX2870AD
POU1F1876AD und/oder AR
PROP1681AR
SHOX879PD und/oder PR
STAT5B2364AR
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
CDC61683AR
CDKN1C951AD und/oder Sus
CDT11641AR
CENPJ4017AR
CREBBP7329AD und/oder SMu und/oder Meth und/oder Impr
CRIPT306AR
CUL75097AR
DVL12013AD
DVL32261AD
EP3007245AD und/oder SMu und/oder Meth und/oder Impr
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
FGD12886XLR
FGFR12469AD und/oder Dig
FGFR32421AD und/oder AR und/oder SMu
GHRH327AR
GLI24761AD
GLI34743AD
HDAC81134XLD
HMGA2330AD und/oder Gen Fusion
HRAS570AD und/oder SMu und/oder Sus
IGFALS1818AR
INSR4149AD und/oder AR und/oder Sus
KDM6A4206XLD und/oder Impr
KMT2D16614AD und/oder SMu und/oder Sus und/oder Impr
KRAS567AD und/oder SMu und/oder Sus
LIG42736AR und/oder SMu und/oder Sus
LZTR12523AD und/oder AR und/oder SMu
MAP2K11182AD
MAP2K21203AD
NBN2265AR und/oder Ass
NIPBL8415AD und/oder Impr
NPR23144AD und/oder AR
NRAS570AD und/oder SMu und/oder Sus
OBSL15691AR
ORC12586AR
ORC41311AR
ORC6759AR
PALB23561AD und/oder Sus
PAPPA25451AR
PCNT10011AR
PIK3R12175AD und/oder AR
PLAG11503Gen Fusion
PNPLA63984AR
PPP1CB350AD
PTPN111782AD und/oder SMu
RAD211896AD und/oder AR und/oder SMu und/oder Impr
RAF11947AD
RBBP82694AR
RIT1660AD
ROR22832AD und/oder AR
RPL10651XLR
RPS6KA32223XLD
SAMD94770AD und/oder AR und/oder SMu
SHOC21749AD
SLX45505AR und/oder Sus
SMC1A3702XLD und/oder Impr
SMC33654AD und/oder SMu und/oder Impr
SOS14002AD
SOS23999AD
SOX2954AD
SOX31341XL
SRCAP9693AD und/oder Impr
TBCE1584AR
TOP3A3006AR
TRIM372895AR und/oder Sus
UBE2T594AR
WNT5A1143AD und/oder Sus
WRN4299AR
XRCC41005AR

Infos zur Erkrankung

Klinischer Kommentar

Kleinwuchs ist definiert als eine Körpergröße unterhalb der 3. Perzentile, meistens infolge einer verminderten Wachstumsgeschwindigkeit oder einer verkürzten Wachstumsdauer. Kleinwuchs wird vor allem im Kleinkindalter und im Zeitraum der Pubertät auffällig, da hier normalerweise größere Wachstumsschübe ablaufen. Das Ursachenspektrum ist außerordentlich heterogen. Zu den endogenen Ursachen zählen genetisch bedingte endokrine Störungen, Chromosomenanomalien, Stoffwechselerkrankungen und syndromaler Kleinwuchs.

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

 

Synonyme
  • Alias: Short stature
  • Allelic: Agammaglobulinemia 7, AR (PIK3R1)
  • Allelic: Agammaglobulinemia, XL 1 (BTK)
  • Allelic: Aplastic anemia (NBN)
  • Allelic: Beckwith-Wiedemann syndrome (CDKN1C)
  • Allelic: Boucher-Neuhauser syndrome (PNPLA6)
  • Allelic: Brachydactyly, type B1 (ROR2)
  • Allelic: Breast-ovarian cancer, familial, 2 (BRCA2)
  • Allelic: CATSHL syndrome (FGFR3)
  • Allelic: Cardiomyopathy, dilated, 1NN (RAf1)
  • Allelic: Congenital myopathy with excess of muscle spindles (HRAS)
  • Allelic: Developmental + epileptic encephalopathy 85, with/-out midline brain defects (SMC1A)
  • Allelic: Diabetes mellitus, insulin-resistant, with acanthosis nigricans (INSR)
  • Allelic: Fibromatosis, gingival, 1 (SOS1)
  • Allelic: Gigantism due to GHRF hypersecretion (GHRH)
  • Allelic: Greig cephalopolysyndactyly syndrome (GLI3)
  • Allelic: Hartsfield syndrome (FGFR1)
  • Allelic: Hypercholesterolemia, familial, modifier of (GHR)
  • Allelic: Hyperinsulinemic hypoglycemia, familial, 5 (INSR)
  • Allelic: Hypogonadotropic hypogonadism 2 with/-out anosmia (FGFR1)
  • Allelic: Immunodeficiency 36 (PIK3R1)
  • Allelic: Increased responsiveness to growth hormone (GRH)
  • Allelic: Jackson-Weiss syndrome (FGFR1)
  • Allelic: Jawad syndrome (RBBP8) 3
  • Allelic: Juvenile myelomonocytic leukemia (CBL)
  • Allelic: LADD syndrome (FGFR3)
  • Allelic: Leukemia, acute lymphoblastic (NBN)
  • Allelic: Microcephaly 6, primary, AR (CENPJ)
  • Allelic: Microphthalmia, syndromic 5 (OTX2)
  • Allelic: Monosomy 7 myelodysplasia and leukemia syndrome 2 (SAMD9)
  • Allelic: Muenke syndrome (FGFR3)
  • Allelic: Optic nerve hypoplasia + abnormalities of the central nervous system (SOX2)
  • Allelic: Pfeiffer syndrome (FGFR1)
  • Allelic: Polydactyly, postaxial, types A1 + B (GLI3)
  • Allelic: Polydactyly, preaxial, type IV (GLI3)
  • Allelic: Premature ovarian failure 11 (ERCC6)
  • Allelic: RAS-associated autoimmune leukoproliferative disorder (KRAS)
  • Allelic: Retinal dystrophy, early-onset, with/-out pituitary dysfunction (OTX2)
  • Allelic: Septooptic dysplasia (HESX1)
  • Allelic: Spastic paraplegia 39, AR (PNPLA6)
  • Allelic: Trigonocephaly 1 (FGFR1)
  • Allelic: Tumoral calcinosis, familial, normophosphatemic (SAMD9)
  • Allelic: UV-sensitive syndrome 1 (ERCC6)
  • Allelic: UV-sensitive syndrome 2 (ERCC8)
  • Allelic: Wilms tumor (BRCA2)
  • Allelic: Xeroderma pigmentosum, group F (ERCC4)
  • Allelic: Xeroderma pigmentosum, type F
  • 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)
  • 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 with immunodeficiency (STAT5B)
  • Growth hormone insensitivity, partial (GHR)
  • Growth retardation with deafness + 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)
  • Menke-Hennekam syndrome 1 (CREBBP)
  • Menke-Hennekam syndrome 2 (EP300)
  • 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)
  • Mungan syndrome (RAD21)
  • 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 loose anagen hair 2 (PPP1CB)
  • Noonan syndrome-like disorder with/-out juvenile myelomonocytic leukemia (CBL)
  • Noonan syndrome-like with loose anagen hair 1 (SHOC2)
  • Oliver-McFarlane syndrome (PNPLA6)
  • Osteoglophonic dysplasia (FGFR1)
  • Pallister-Hall syndrome (GLI3)
  • Panhypopituitarism, XL (SOX3)
  • Pituitary hormone deficiency, combined, 1 (POUF1)
  • Pituitary hormone deficiency, combined, 2 (PROP1)
  • Pituitary hormone deficiency, combined, 3 (LHX3)
  • Pituitary hormone deficiency, combined, 4 (LHX4)
  • Pituitary hormone deficiency, combined, 5 (HESX1)
  • Pituitary hormone deficiency, combined, 6 (OTX2)
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, AR 5 (TOP3A)
  • Rabson-Mendenhall syndrome (INSR)
  • Robinow syndrome, AD 1 (WNT5A)
  • Robinow syndrome, AD 2 (DVL1)
  • Robinow syndrome, AD 3 (DVL3)
  • Robinow syndrome, AR (ROR2)
  • Roifman syndrome (RNU4ATAC)
  • Rubinstein-Taybi syndrome 1 (CREBBP)
  • Rubinstein-Taybi syndrome 2 (EP300)
  • SADDAN (FGFR3)
  • SHORT syndrome (PIK3R1)
  • Seckel syndrome 2 (RBBP8)
  • Seckel syndrome 4 (CENPJ)
  • Short stature with microcephaly and distinctive facies (CRIPT)
  • Short stature with nonspecific skeletal abnormalities (NPR2)
  • Short stature, Dauber-Argente type (PAPPA2)
  • Short stature, advanced bone age +/- early-onset osteoarthritis +/- osteochondritis dissecans (ACAN)
  • Short stature, idiopathic familial (SHOX)
  • Short stature, microcephaly + endocrine dysfunction (XRCC4)
  • Short stature, rhizomelic with microcephaly, micrognathia, developmental delay (ARCN1)
  • 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
  • Thanatophoric dysplasia, type I + II (FGFR3)
  • Werner syndrome (WRN)
  • 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 Impr
  • AD und/oder AR und/oder SMu und/oder Sus
  • AD und/oder AR und/oder Sus
  • AD und/oder Dig
  • AD und/oder Gen Fusion
  • AD und/oder Impr
  • AD und/oder SMu
  • AD und/oder SMu und/oder Impr
  • AD und/oder SMu und/oder Meth 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 Ass
  • AR und/oder SMu und/oder Sus
  • AR und/oder Sus
  • Gen Fusion
  • PD und/oder PR
  • XL
  • XLD
  • XLD und/oder Impr
  • XLR
  • XLR und/oder SMu
  • XLR und/oder Sus
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
E34.3

Bioinformatik und klinische Interpretation

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