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ErkrankungIsolierte Gonadotropin-Releasing Hormone (GnRH) Defizienz; Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Isolierte Gonadotropin-Releasing Hormone (GnRH) Defizienz mit 8 bzw. zusammen genommen 28 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
IP1772
Anzahl Gene
28 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
20,7 kb (Core-/Basis-Gene)
52,4 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
ANOS12043XLR
CHD78994AD und/oder Impr
FGFR12469AD und/oder Dig
GNRHR987AR und/oder Dig
IL17RD2220AD und/oder AR und/oder Dig
PROKR21155AD und/oder Dig
SOX101401AD
TACR31398AR
AXL1881AD
CCDC1414895AD und/oder AR
DUSP61146AD
FEZF11428AR
FGF17651AD
FGF8735AD
FLRT31950AD
GNRH1291AR
HS6ST11236AD
KISS1417AR
KISS1R1197AD und/oder AR
NSMF1587AD
POLR3B3402AR
PROK2390AD und/oder Dig
SEMA3A2316AD
SEMA3E2328AD
SPRY4969AD
SRA1870AR
TAC3366AR
WDR113675AD und/oder Dig

Infos zur Erkrankung

Synonyme
  • Alias: Gonadotropic deficiency
  • Alias: Isolated congenital gonadotropin deficiency
  • Alias: Isolated congenital hypogonadotropic hypogonadism
  • Alias: Isolated gonadotropin-releasing hormone deficiency
  • Allelic: Hartsfield syndrome (FGFR1)
  • Allelic: Jackson-Weiss syndrome (FGFR1)
  • Allelic: Osteoglophonic dysplasia (FGFR1)
  • Allelic: Pfeiffer syndrome (FGFR1)
  • Allelic: Precocious puberty, central, 1 (KISS1R)
  • Anosmic hypogonadotropic hypogonadism [panelapp] (CCDC141)
  • CHARGE syndrome (CHD7)
  • CHARGE syndrome (SEMA3E)
  • Congenital hypogonadotropic hypogonadism [MONDO:0015770] (CCDC141))
  • Hypogonadotropic hypogonadism 1 with/-out anosmia [Kallmann syndrome 1] (ANOS1)
  • Hypogonadotropic hypogonadism 10 with/-out anosmia (TAC3)
  • Hypogonadotropic hypogonadism 11 with/-out anosmia (TACR)
  • Hypogonadotropic hypogonadism 12 with/-out anosmia (GNRH1)
  • Hypogonadotropic hypogonadism 13 with/-out anosmia (KISS1)
  • Hypogonadotropic hypogonadism 14 with/-out anosmia (WDR11)
  • Hypogonadotropic hypogonadism 15 with/-out anosmia (HS6ST1)
  • Hypogonadotropic hypogonadism 16 with/-out anosmia (SEMA3A)
  • Hypogonadotropic hypogonadism 17 with/-out anosmia (SPRY4)
  • Hypogonadotropic hypogonadism 18 with/-out anosmia (IL17RD)
  • Hypogonadotropic hypogonadism 19 with/-out anosmia (DUSP6)
  • Hypogonadotropic hypogonadism 2 with/-out anosmia (FGFR1)
  • Hypogonadotropic hypogonadism 20 with/-out anosmia (FGF17)
  • Hypogonadotropic hypogonadism 21 with anosmia (FLRT3)
  • Hypogonadotropic hypogonadism 22, with/-out anosmia (FEZF1)
  • Hypogonadotropic hypogonadism 3 with/-out anosmia (PROKR2)
  • Hypogonadotropic hypogonadism 4 with/-out anosmia (PROK2)
  • Hypogonadotropic hypogonadism 5 with/-out anosmia (CHD7)
  • Hypogonadotropic hypogonadism 6 with/-out anosmia (FGF8)
  • Hypogonadotropic hypogonadism 7 without anosmia (GNRHR)
  • Hypogonadotropic hypogonadism 8 with/-out anosmia (KISS1R)
  • Hypogonadotropic hypogonadism 9 with/-out anosmia (NSMF)
  • Leukodystrophy, hypomyelin., 8, with/-out oligodontia and/or hypogonadotropic hypogonadism (POLR3B)
  • PCWH syndrome (SOX10)
  • Periph. demyel. neuropathy, central dysmyelin., Waardenburg s. + Hirschsprung dis. [PCWH s.] (SOX10)
  • Waardenburg syndrome, type 2E, with/-out neurologic involvement (SOX10)
  • Waardenburg syndrome, type 4C (SOX10)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder AR und/oder Dig
  • AD und/oder Dig
  • AD und/oder Impr
  • AR
  • AR und/oder Dig
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
E23.0

Bioinformatik und klinische Interpretation

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