Deutsch
IllnessIsolated Gonadotropin-Releasing Hormone (GnRH) Deficiency; differential doagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency comprising 8 or altogether 28 curated genes according to the clinical signs
ID
IP1772
Number of genes
28
Accredited laboratory test
Examined sequence length
20,7 kb (Core-/Core-canditate-Genes)
52,4 kb (Extended panel: incl. additional genes)
52,4 kb (Extended panel: incl. additional genes)
Analysis Duration
auf Anfrage
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Selected genes
| Name | Exon Length (bp) | OMIM-G | Heredity |
|---|---|---|---|
| ANOS1 | 2043 | XLR | |
| CHD7 | 8994 | AD | |
| FGFR1 | 2469 | AD | |
| GNRHR | 987 | AR | |
| IL17RD | 2220 | AR | |
| PROKR2 | 1155 | AD, AR | |
| SOX10 | 1401 | AD | |
| TACR3 | 1398 | AR | |
| AXL | 1881 | AD | |
| CCDC141 | 4895 | AD, AR | |
| DUSP6 | 1146 | AD | |
| FEZF1 | 1428 | AR | |
| FGF17 | 651 | AD | |
| FGF8 | 735 | AD | |
| FLRT3 | 1950 | AD | |
| GNRH1 | 291 | AR | |
| HS6ST1 | 1236 | AD | |
| KISS1 | 417 | AR | |
| KISS1R | 1197 | AR | |
| NSMF | 1587 | AD | |
| POLR3B | 3402 | AR | |
| PROK2 | 390 | AD, digenisch | |
| SEMA3A | 2316 | AD | |
| SEMA3E | 2328 | AD | |
| SPRY4 | 969 | AR | |
| SRA1 | 870 | AR | |
| TAC3 | 366 | AR | |
| WDR11 | 3675 | AR |
Informations about the disease
Synonyms
- 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)
Heredity, heredity patterns etc.
- AD
- AR
- XLR
- digenisch
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
E23.0
Bioinformatics and clinical interpretation
No text defined