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Klinische FragestellungHypertrichosis, konnatal; Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für konnatale Hypertrichose mit 6 bzw. insgesamt 19 kuratierten Genen gemäß des klinischen Verdachts

ID
HP8888
Anzahl Gene
13 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
26,2 kb (Core-/Core-canditate-Gene)
57,2 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
ARID1B6750NM_001374820.1AD
HDAC81134NM_018486.3XL
NIPBL8415NM_133433.4AD
SMARCA45040NM_001128849.3AD
SMARCB11158NM_003073.5AD
SMC1A3702NM_006306.4XL
ABCA54929NM_018672.5AR
ARID1A6858NM_006015.6AD
KMT2A11919NM_001197104.2AD
RAD211896NM_006265.3AD
SMARCE11236NM_003079.5AD
SMC33654NM_005445.4AD
TWIST2483NM_001271893.4AD

Infos zur Erkrankung

Synonyme
  • Alias: Werewolf syndrome
  • 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
  • AR
  • XL
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatik und klinische Interpretation

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