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ErkrankungHartsfield-Syndrom, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Hartsfield-Syndrom mit zusammen genommen 22 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
HP1775
Anzahl Gene
22 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
2,5 kb (Core-/Basis-Gene)
84,8 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
FGFR12469AD und/oder Dig
CDON3795AD
CENPF9403AR
CNOT17401AD
DHCR71428AR
DISP14575AD und/oder Dig
DLL12172AD
FGF8735AD
GLI24761AD
KMT2D16614AD und/oder SMu und/oder Sus und/oder Impr
PPP1R12A3321AD
PTCH14344AD und/oder SMu
RAD211896AD und/oder AR und/oder SMu und/oder Impr
SHH1389AD und/oder Dig
SIX3999AD und/oder AR
SMC1A3702XLD und/oder Impr
SMC33654AD und/oder SMu und/oder Impr
STAG23807XL und/oder SMu
STIL3867AR
TGIF1819AD
TP632043AD und/oder Sus
ZIC21599AD

Infos zur Erkrankung

Klinischer Kommentar

illness_ClinicalComment_HP1775

 

Synonyme
  • Alias: FGFR1-related Hartsfield syndrome
  • Alias: Hartsfield-Bixler-Demyer syndrome
  • Alias: Holoprosencephaly split hand/foot syndrome
  • Alias: Holoprosencephaly, ectrodactyly + bilateral cleft lip/palate
  • Alias: Holoprosencephaly, hypertelorism + ectrodactyly syndrome
  • Alias: Holoprosenzephalie-Ektrodaktylie-Lippen-Kiefer-Gaumenspalte-Syndrom
  • Allelic: ADULT [Acro-Dermato-Ungual-Lacrimal-Tooth] syndrome (TP63)
  • Allelic: Hay-Wells syndrome [Ankyloblepharon-ectodermal defects-cleft lip/palate] (TP63)
  • Allelic: Hypogonadotropic hypogonadism 2 with/-out anosmia (FGFR1)
  • Allelic: Jackson-Weiss syndrome (FGFR1)
  • Allelic: Limb-mammary syndrome (TP63)
  • Allelic: Microphthalmia with coloboma 5 (SHH)
  • Allelic: Mullegama-Klein-Martinez syndrome (STAG2)
  • Allelic: Osteoglophonic dysplasia (FGFR1)
  • Allelic: Pfeiffer syndrome (FGFR1)
  • Allelic: Rapp-Hodgkin syndrome [anhidrotic ectodermal dysplasia, cleft lip/palate] (TP63)
  • Allelic: Schizencephaly (SHH, SIX3)
  • Allelic: Split-hand/foot malformation 4 (TP63)
  • Allelic: Trigonocephaly 1 (FGFR1)
  • Cornelia de Lange syndrome 2 (SMC1A)
  • Cornelia de Lange syndrome 4 (RAD21)
  • Culler-Jones syndrome (GLI2)
  • Developmental + epileptic encephalopathy 85, with/-out midline brain defects (SMC1A)
  • Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3 (TP63)
  • Genitourinary and/or/brain malformation syndrome (PPP1R12A)
  • Hartsfield syndrome (FGFR1)
  • Holoprosencephaly 10 (DISP1)
  • Holoprosencephaly 11 (CDON)
  • Holoprosencephaly 12, with/-out pancreatic agenesis (CNOT1)
  • Holoprosencephaly 13, XL (STAG2)
  • Holoprosencephaly 2 (SIX3)
  • Holoprosencephaly 3 (SHH)
  • Holoprosencephaly 4 (TGIF1)
  • Holoprosencephaly 5 (ZIC2)
  • Holoprosencephaly 9 (GLI2)
  • Hypogonadotropic hypogonadism 6 with/-out anosmia (FGF8)
  • Kabuki syndrome 1 (KMT2D)
  • Microcephaly 7, primary, AR (STIL)
  • Mungan syndrome (RAD21)
  • Neurodevelopmental disorder with nonspecific brain abnormalities with/-out seizures (DLL1)
  • Orofacial cleft 8 (TP63)
  • Single median maxillary central incisor (SHH)
  • Smith-Lemli-Opitz syndrome (DHCR7)
  • Stromme syndrome (CENPF)
  • Vissers-Bodmer syndrome (CNOT1)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder AR und/oder SMu und/oder Impr
  • AD und/oder Dig
  • AD und/oder SMu
  • AD und/oder SMu und/oder Impr
  • AD und/oder SMu und/oder Sus und/oder Impr
  • AD und/oder Sus
  • AR
  • XL und/oder SMu
  • XLD und/oder Impr
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q87.-

Bioinformatik und klinische Interpretation

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