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Klinische FragestellungKleinwuchs, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Kleinwuchs mit 2 Leitlinien-kuratierten "core"-Genen sowie weiteren 14 bzw. insgesamt 147 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
KP3002
Anzahl Gene
105 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
27,2 kb (Core-/Core-canditate-Gene)
290,3 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

[Sanger]

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GReferenz-Seq.Erbgang
ACAN7593NM_013227.4AD, AR
BTK1980NM_000061.3XLR
GH1654NM_000515.5AD, AR
GHR1917NM_000163.5AR, AD
GHRHR1272NM_000823.4AR
HESX1558NM_003865.3AD, AR
IGF1462NM_000618.5AR
IGF1R4104NM_000875.5AD, AR
IGF2543NM_000612.6AD
LHX31209NM_014564.5AR
LHX41173NM_033343.4AD
OTX2870NM_172337.3AD
POU1F1876NM_000306.4AD, AR
PROP1681NM_006261.5AR
SHOX879NM_000451.4, NM_006883.2PD/PR
STAT5B2364NM_012448.4AR, AD
ANKRD117992NM_013275.6AD
BLM4254NM_000057.4AR
BRAF2301NM_004333.6AD
BRIP13750NM_032043.3AR
CBL2721NM_005188.4AD
CCDC81617NM_032040.5AR
CDC61683NM_001254.4AR
CDKN1C951NM_000076.2AD
CDT11641NM_030928.4AR
CENPJ4017NM_018451.5AR
CREBBP7329NM_004380.3AD
CRIPT306NM_014171.6AR
CUL75097NM_014780.5AR
DHCR71428NM_001360.3AR
DVL12013NM_004421.3AD
DVL32261NM_004423.4AD
EP3007245NM_001429.4AD
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
FGD12886NM_004463.3XLR
FGFR12469NM_023110.3AD
FGFR32421NM_000142.5AD
GHRH327NM_021081.6AR
GLI24761NM_005270.5AD
GLI34743NM_000168.6AD
GNAS1185NM_000516.7; NM_016592.3; NM_080425.3AD
HDAC81134NM_018486.3XL
HMGA2330NM_003483.6AD
HRAS570NM_005343.4AD
IGFALS1818NM_004970.3AR
INSR4149NM_000208.4AD, AR
KDM6A4206NM_021140.4XL
KMT2D16614NM_003482.4AD
KRAS567NM_004985.5AD
LIG42736NM_002312.3AR
LZTR12523NM_006767.4AD, AR
MAP2K11182NM_002755.4AD
MAP2K21203NM_030662.4AD
NBN2265NM_002485.5AR
NIPBL8415NM_133433.4AD
NPR23144NM_003995.4AD, AR
NRAS570NM_002524.5AD
OBSL15691NM_015311.3AR
ORC12586NM_004153.4AR
ORC41311NM_002552.5AR
ORC6759NM_014321.4AR
PALB23561NM_024675.4AR
PAPPA25451NM_020318.3AR
PCNT10011NM_006031.6AR
PIK3R12175NM_181523.3AD
PLAG11503NM_002655.3Gen Fusion
PNPLA63984NM_006702.5AR
PPP1CB350NM_002709.3AD
PTPN111782NM_002834.5AD
RAD211896NM_006265.3AD, AR
RAF11947NM_002880.4AD
RASA22550NM_006506.5AD
RBBP82694NM_002894.3AR
RIT1660NM_006912.6AD
ROR22832NM_004560.4AD, AR
RPL10651NM_006013.5XLR
RPS6KA32223NM_004586.3XL
SAMD94770NM_001193307.2AD
SHOC21749NM_007373.4AD
SLX45505NM_032444.4AR
SMC1A3702NM_006306.4XL
SMC33654NM_005445.4AD
SOS14002NM_005633.4AD
SOS23999NM_006939.4AD
SOX2954NM_003106.4AD
SOX31341NM_005634.3XL
SRCAP9693NM_006662.3AD
TALDO11014NM_006755.2AR
TBCE1584NM_003193.5AR
TOP3A3006NM_004618.5AR
TRIM372895NM_015294.6AR
UBE2T594NM_014176.4AR
WNT5A1143NM_003392.7AD
WRN4299NM_000553.6AR
XRCC41005NM_003401.5AR

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: ACTH-independent macronodular adrenal hyperplasia (GNAS)
  • Allelic: Agammaglobulinemia 7, AR (PIK3R1)
  • Allelic: Agammaglobulinemia, XL 1 (BTK)
  • Allelic: Anterior segment dysgenesis 4 (PITX2)
  • Allelic: Aplastic anemia (NBN)
  • Allelic: Beckwith-Wiedemann syndrome (CDKN1C)
  • Allelic: Boucher-Neuhauser syndrome (PNPLA6)
  • Allelic: Brachydactyly, type A2 (BMP2)
  • 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: Cutaneous telangiectasia + cancer syndrome, familial (ATR)
  • Allelic: Deafness, AD 20/26 (ACTG1)
  • Allelic: Developmental + epileptic encephalopathy 85, with/-out midline brain defects (SMC1A)
  • Allelic: Diabetes mellitus, insulin-resistant, with acanthosis nigricans (INSR)
  • Allelic: Dystonia, juvenile-onset (ACTB)
  • Allelic: Fibromatosis, gingival, 1 (SOS1)
  • Allelic: Gigantism due to GHRF hypersecretion (GHRH)
  • Allelic: Glomerulopathy with fibronectin deposits 2 (FN1)
  • Allelic: Greig cephalopolysyndactyly syndrome (GLI3)
  • Allelic: HFE hemochromatosis, modifier of (BMP2)
  • 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: McCune-Albright syndrome, somatic, mosaic (GNAS)
  • Allelic: Meningioma, familial, susceptibility to (SMARCE1)
  • Allelic: Microcephaly 6, primary, AR (CENPJ)
  • Allelic: Microcephaly-micromelia syndrome (DONSON)
  • 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: Ring dermoid of cornea (PITX2)
  • 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)
  • Adrenocorticotropic hormone deficiency (TBX19)
  • Alagille syndrome 2 (NOTCH2)
  • Alazami syndrome (LARP7)
  • Anauxetic dysplasia 2 (POP1)
  • Arthrogryposis, cleft palate, craniosynostosis, impaired intellectual development (PPP3CA)
  • Axenfeld-Rieger syndrome, type 1 (PITX2)
  • Baraitser-Winter syndrome 1 (ACTB)
  • Baraitser-Winter syndrome 2 (ACTG1)
  • Bjornstad syndrome (BCS1L)
  • Blepharophimosis-impaired intellectual development syndrome (SMARCA2)
  • Bloom syndrome (BLM)
  • Calvarial doughnut lesions with bone fragility +/- spondylometaphyseal dysplasia (SGMS2)
  • 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)
  • Coffin-Siris syndrome 5 (SMARCE1)
  • 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)
  • Developmental and epileptic encephalopathy 91 (PPP3CA)
  • 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 D2 (FANCD2)
  • 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)
  • GRACILE syndrome (BCS1L)
  • Galloway-Mowat syndrome 3 (OSGEP)
  • Growth hormone deficiency with pituitary anomalies (HESX1)
  • Growth hormone deficiency, isolated partial (GHSR)
  • 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)
  • Hajdu-Cheney syndrome (NOTCH2)
  • Hiatt-Neu-Cooper neurodevelopmental syndrome (RALA)
  • Holoprosencephaly 9 (GLI2)
  • Hypochondroplasia (FGFR3)
  • Hypoparathyroidism-retardation-dysmorphism syndrome (TBCE)
  • IMAGE syndrome (CDKN1C)
  • Insulin-like growth factor I, resistance to (IGF1R)
  • Intellectual dev. disorder, microcephaly +/- ocular malformations/hypogonad. hypogonadism (SOX11)
  • 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)
  • Liberfarb syndrome (PISD)
  • 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)
  • Meier-Gorlin syndrome 7 (CDC45)
  • 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 9, primary, AR (CEP152)
  • Microcephaly, growth restriction + increased sister chromatid exchange 2 (TOP3A)
  • Microcephaly, short stature + impaired glucose metabolism 1 (TRMT10A)
  • Microcephaly, short stature + limb abnormalities (DONSON)
  • Microcephaly, short stature + polymicrogyria with seizures (RTTN)
  • Microphthalmia, syndromic 3 (SOX2)
  • Midface hypoplasia, hearing impairment, elliptocytosis, nephrocalcinosis (AMMECR1)
  • Mitochondrial complex III deficiency, nuclear type 1 (BCS1L)
  • Mucopolysaccharidosis Ih, Ih/s, Is (IDUA)
  • Mulibrey nanism (TRIM37)
  • Multiple joint dislocations, short, craniofacial dysmorphism +/- cong. heart defects (B3GAT3)
  • Mungan syndrome (RAD21)
  • Nicolaides-Baraitser syndrome (SMARCA2)
  • 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 [panelapp] (RASA2)
  • Noonan syndrome, atypical [panelapp] (RRAS)
  • 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)
  • Osseous heteroplasia, progressive (GNAS)
  • Osteoglophonic dysplasia (FGFR1)
  • Pallister-Hall syndrome (GLI3)
  • Panhypopituitarism, XL (SOX3)
  • Pituitary hormone deficiency, combined or isolated, 7 (RNPC3)
  • 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)
  • Pseudohypoparathyroidism Ia, Ib, Ic (GNAS)
  • Pseudopseudohypoparathyroidism (GNAS)
  • 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 1 (ATR)
  • Seckel syndrome 2 (RBBP8)
  • Seckel syndrome 4 (CENPJ)
  • Seckel syndrome 5 (CEP152)
  • Seckel syndrome 6 (CEP63)
  • 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, brachydactyly, intellectual developmental disability + seizures (PRMT7)
  • Short stature, facial dysmorphism, skeletal anomalies +/- cardiac anomalies 1 (BMP2)
  • Short stature, idiopathic familial (SHOX)
  • Short stature, microcephaly + endocrine dysfunction (XRCC4)
  • Short stature, onychodysplasia, facial dysmorphism + hypotrichosis (POC1A)
  • Short stature, rhizomelic with microcephaly, micrognathia, developmental delay (ARCN1)
  • Short stature-micrognathia syndrome (ARCN1)
  • Silver-Russell syndrome 3 (IGF2)
  • Silver-Russell syndrome 4 (PLAG1)
  • Silver-Russell syndrome 5 (HMGA2)
  • Smith-Lemli-Opitz syndrome (DHCR7)
  • Spondylocostal dysostosis 3, AR (LFNG)
  • Spondyloepimetaphyseal dysplasia, aggrecan type (ACAN)
  • Spondyloepiphyseal dysplasia, Kimberley type (ACAN)
  • Spondylometaphyseal dysplasia, corner fracture type (FN1)
  • Steel syndrome (COL27A1)
  • Thanatophoric dysplasia, type I + II (FGFR3)
  • Transaldolase deficiency (TALDO1)
  • Ulnar-mammary syndrome (TBX3)
  • Verheij syndrome (PUF60)
  • Vertebral anomalies + variable endocrine and T-cell dysfunction (TBX2)
  • Werner syndrome (WRN)
  • 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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