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ErkrankungHypertrichosis, konnatal; Differentialdiagnose

Zusammenfassung

Kurzinformation

HP8888_KI

ID
HP8888
Anzahl Gene
13 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
26,2 kb (Core-/Basis-Gene)
57,2 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

HP8888_DH

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
ARID1B6750AD und/oder SMu und/oder Impr
HDAC81134XLD
NIPBL8415AD und/oder Impr
SMARCA45040AD und/oder SMu und/oder Impr
SMARCB11158AD und/oder SMu und/oder Sus und/oder Impr
SMC1A3702XLD und/oder Impr
ABCA54929AR
ARID1A6858AD und/oder SMu und/oder Sus und/oder Impr
KMT2A11919AD und/oder Gen Fusion und oder Impr
RAD211896AD und/oder AR und/oder SMu und/oder Impr
SMARCE11236AD
SMC33654AD und/oder SMu und/oder Impr
TWIST2483AD und/oder AR

Infos zur Erkrankung

Synonyme
  • Allelic: Ablepharon-macrostomia syndrome (TWIST2)
  • Allelic: Atrial fibrillation, familial, 12 (ABCC9)
  • Allelic: Cardiomyopathy, dilated, 1O (ABCC9)
  • Allelic: Deafness, congenital, with onychodystrophy, AD (ATP6V1B2)
  • Allelic: Developmental + epileptic encephalopathy 85, with/-out midline brain defects (SMC1A)
  • Allelic: Focal facial dermal dysplasia 3, Setleis type (TWIST2)
  • Allelic: Intellectual developmental disorder, AD 29 (SETBP1)
  • Allelic: Intellectual developmental disorder, XL, with isolated growth hormone deficiency (SOX3)
  • Allelic: Intellectual disability and myopathy syndrome (ABCC9)
  • Allelic: Meningioma, familial, susceptibility to (SMARCE1)
  • Allelic: Mungan syndrome (RAD21)
  • Allelic: Panhypopituitarism, XL (SOX3)
  • Allelic: Rhabdoid tumor predisposition syndrome 1 (SMARCB1)
  • Allelic: Rhabdoid tumor predisposition syndrome 2 (SMARCA4)
  • Allelic: Schwannomatosis-1, susceptibility to (SMARCB1)
  • Allelic: Temple-Baraitser syndrome (KCNH1)
  • Barber-Say syndrome (TWIST2)
  • Coffin-Siris syndrome 1 (ARID1B)
  • Coffin-Siris syndrome 2 (ARID1A)
  • Coffin-Siris syndrome 3 (SMARCB1)
  • Coffin-Siris syndrome 4 (SMARCA4)
  • 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)
  • Hypertrichosis, congenital generalized, with gingival hyperplasia (ABCA5)
  • Hypertrichosis, generalised congenital, type Macias-Flores [orphanet] (SOX3)
  • Hypertrichotic osteochondrodysplasia, Cantu syndrome (ABCC9)
  • Schinzel-Giedion midface retraction syndrome (SETBP1)
  • Wiedemann-Steiner syndrome (KMT2A)
  • Zimmermann-Laband syndrome 1 (KCNH1)
  • Zimmermann-Laband syndrome 2 (ATP6V1B2)
  • Zimmermann-Laband syndrome 3 (KCNN3)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder AR und/oder SMu und/oder Impr
  • AD und/oder Gen Fusion und oder Impr
  • AD und/oder Impr
  • AD und/oder SMu und/oder Impr
  • AD und/oder SMu und/oder Sus und/oder Impr
  • AR
  • XLD
  • XLD und/oder Impr
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
L68.-

Bioinformatik und klinische Interpretation

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