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ErkrankungBrachydaktylie, Differentialdiagnose

Zusammenfassung

Kurzinformation

BP4912_KI

ID
BP4912
Anzahl Gene
16 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
17,2 kb (Core-/Basis-Gene)
35,1 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

BP4912_DH

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
BMP21191AD und/oder AR
BMPR1B1509AD und/oder AR
CHSY12409AR
DMP11542AR
GDF51506AD und/oder AR
HOXD131032AD
IHH1236AD und/oder AR
NOG699AD
PTHLH534AD und/oder Mult
ROR22832AD und/oder AR
TRPV42616AD
HDAC43255AD
NOTCH17668AD und/oder SMu
PDE3A3569AD
PRMT71929AR
RUNX21566AD und/oder Mult

Infos zur Erkrankung

Klinischer Kommentar

illness_ClinicalComment_BP4912

 

Synonyme
  • Allelic: Acrocapitofemoral dysplasia (IHH)
  • Allelic: Acromesomelic dysplasia 2A (GDF5)
  • Allelic: Acromesomelic dysplasia 2B (GDF5)
  • Allelic: Acromesomelic dysplasia 2C, Hunter-Thompson type (GDF5)
  • Allelic: Acromesomelic dysplasia 3 (BMPR1B)
  • Allelic: Albright hereditary osteodystrophy type 3 [panelapp] (HDAC4)
  • Allelic: Albright hereditary osteodystrophy-like syndrome [panelapp] (HDAC4)
  • Allelic: Aortic valve disease 1 (NOTCH1)
  • Allelic: Avascular necrosis of femoral head, primary, 2 (TRPV4)
  • Allelic: Brachyolmia type 3 (TRPV4)
  • Allelic: Chromosome 2q37 deletion syndrome (HDAC4)
  • Allelic: Cleidocranial dysplasia, forme fruste, dental anomalies only (RUNX2)
  • Allelic: HFE hemochromatosis, modifier of (BMP2)
  • Allelic: Hereditary motor + sensory neuropathy, type IIc (TRPV4)
  • Allelic: Metatropic dysplasia (TRPV4)
  • Allelic: Multiple synostoses syndrome 1 (NOG)
  • Allelic: Multiple synostoses syndrome 2 (GDF5)
  • Allelic: Neuronopathy, distal hereditary motor, type VIII (TRPV4)
  • Allelic: Osteoarthritis-5 (GDF5)
  • Allelic: Parastremmatic dwarfism (TRPV4)
  • Allelic: Robinow syndrome, AR (ROR2)
  • Allelic: SED, Maroteaux type (TRPV4)
  • Allelic: Scapuloperoneal spinal muscular atrophy (TRPV4)
  • Allelic: Sodium serum level QTL 1 (TRPV4)
  • Allelic: Spondylometaphyseal dysplasia, Kozlowski type (TRPV4)
  • Allelic: Stapes ankylosis with broad thumbs + toes (NOG)
  • Allelic: Symphalangism, proximal, 1A (NOG)
  • Allelic: Symphalangism, proximal, 1B (GDF5)
  • Allelic: Syndactyly, type V (HOXD13)
  • Allelic: Synpolydactyly 1 (HOXD13)
  • Allelic: Tarsal-carpal coalition syndrome (NOG)
  • Adams-Oliver syndrome 5 (NOTCH1)
  • Brachydactyly, type A1 (IHH)
  • Brachydactyly, type A1, C (GDF5)
  • Brachydactyly, type A1, D (BMPR1B)
  • Brachydactyly, type A2 (BMP2)
  • Brachydactyly, type A2 (BMPR1B)
  • Brachydactyly, type A2 (GDF5)
  • Brachydactyly, type B1 (ROR2)
  • Brachydactyly, type B2 (NOG)
  • Brachydactyly, type C (GDF5)
  • Brachydactyly, type D (HOXD13)
  • Brachydactyly, type E (HOXD13)
  • Brachydactyly, type E2 (PTHLH)
  • Brachydactyly-intellectual disability (HDAC4)
  • Brachydactyly-syndactyly syndrome (HOXD13)
  • Cleidocranial dysplasia (RUNX2)
  • Cleidocranial dysplasia, forme fruste, with brachydactyly (RUNX2)
  • Clubfoot, congenital, +/- deficiency of long bones +/or mirror-image polydactyly (PITX1)
  • Digital arthropathy-brachydactyly, familial (TRPV4)
  • Hypertension + brachydactyly syndrome (PDE3A)
  • Hypophosphatemic rickets, AR (DMP1)
  • Liebenberg syndrome (PITX1)
  • Metaphyseal dysplasia with maxillary hypoplasia with/-out brachydactyly (RUNX2)
  • Short stature, brachydactyly, intellectual developmental disability + seizures (PRMT7)
  • Short stature, facial dysmorphism, skeletal anomalies with/-out cardiac anomalies 1 (BMP2)
  • Temtamy preaxial brachydactyly syndrome (CHSY1)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder Mult
  • AD und/oder SMu
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q74.0

Bioinformatik und klinische Interpretation

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