ErkrankungPOI - Prämature Ovarial-Insuffizienz [ersetzt POF]
Zusammenfassung
Umfassendes differentialdiagnostisches panel für POI - Prämature Ovarial-Insuffizienz mit 1 Leitlinien-kuratierten, 16 "core-candidate" sowie insgesamt 51 kuratierten Genen
99,0 kb (Erweitertes Panel)
- EDTA-Blut (3-5 ml)
NGS +
Sanger
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
AIRE | 1638 | AD und/oder AR | |
BMP15 | 1179 | XL und/oder Dig | |
CLPP | 834 | AR | |
CYP17A1 | 1527 | AR | |
CYP19A1 | 1512 | AR | |
EIF2B5 | 2166 | AR | |
FMR1 | 1899 | XL | |
FOXL2 | 1131 | AD und/oder Dig | |
FSHB | 390 | AR | |
FSHR | 2088 | AD und/oder AR | |
GALT | 1140 | AR und/oder Dig | |
HFM1 | 4308 | AR | |
MCM8 | 2523 | AR | |
NOBOX | 2076 | AD und/oder Dig | |
NR5A1 | 1386 | AD und/oder AR | |
PMM2 | 741 | AR | |
STAG3 | 3678 | AR | |
TWNK | 2055 | AD und/oder AR | |
AARS2 | 2958 | AR | |
BMPR1B | 1509 | AD und/oder AR | |
BUB1B | 3153 | AD und/oder AR und/oder Sus | |
C14orf39 | 1890 | AR | |
DACH2 | 1860 | XL | |
DIAPH2 | 3306 | XLD | |
EIF2B4 | 1569 | AR | |
EIF4ENIF1 | 3006 | AD | |
FANCM | 6147 | AR und/oder Sus | |
FIGLA | 660 | AD und/oder Dig | |
GDF9 | 1365 | AR und/oder Dig | |
HARS2 | 1521 | AR | |
HSD17B4 | 2211 | AR | |
LARS2 | 2712 | AR | |
LMNA | 1995 | AD und/oder AR und/oder Dig | |
MCM9 | 3432 | AR | |
MSH4 | 2811 | AR | |
MSH5 | 2505 | AR | |
NANOS3 | 593 | AD | |
NOG | 699 | AD | |
NUP107 | 2778 | AR | |
PGRMC1 | 588 | XLR | |
POF1B | 1770 | XLR | |
POLG | 3720 | AD und/oder AR | |
POU5F1 | 1083 | AD | |
PSMC3IP | 654 | AR | |
RCBTB1 | 1596 | AD und/oder AR | |
SGO2 | 3854 | AR | |
SOHLH1 | 1164 | AD und/oder AR | |
SYCE1 | 1109 | AR | |
SYCP2L | 2474 | AR |
Infos zur Erkrankung
Die vorzeitige oder primäre Ovarialinsuffizienz (POI) ist ein klinisches Syndrom mit Verlust der Ovarialaktivität vor dem 40. Lebensjahr. POI ist durch Menstruationsstörungen (Amenorrhoe/ Oligomenorrhoe) mit erhöhten Gonadotropinen und niedrigem Östradiol gekennzeichnet und weist eine Prävalenz von 1% auf. POI tritt bei (prä-)pubertären Mädchen und Frauen ab dem zweiten Jahrzehnt auf. Zu den Folgen von POI gehören eine verringerte Lebenserwartung, vor allem aufgrund von Herz-Kreislauf-Erkrankungen sowie verringerter Knochendichte. Negative Auswirkungen können das psychische Wohlbefinden, die Lebensqualität und Sexualität betreffen. Daher ist mitunter Hormonersatztherapie indiziert, nachdem spezielle Probleme (Turner-Syndrom, Brustkrebs etc.) mit in Betracht gezogen wurden. Nach Karyotyp- und Fragiles-X-Prämutationstests umfassen molekulargenetische Analysen eine Reihe von autosomalen und X-chromosomalen Genen. Während 20% der Frauen mit Fragiles-X-Prämutationen POI entwickeln, ist die Detektionsrate in den anderen Genen niedriger. Daher schließt ein normales DNA-Ergebnis genetische POI-Ursachen keinesfalls aus.
- Alias: Follicular stimulating hormone-resistant ovaries
- Alias: Hypergonadotropic ovarian dysgenesis
- Alias: Ovarian insufficiency
- Alias: POI (POF) - premature ovarian insufficiency (failure)
- Alias: Vorzeitige Ovarialinsuffizienz
- Alle3lic: Mitochondrial DNA depletion syndrome 7 [hepatocerebral type] (TWNK)
- Allelic: 46XX sex reversal 4 (NR5A1)
- Allelic: 46XY sex reversal 3 (NR5A1)
- Allelic: Acromesomelic dysplasia, Demirhan type (BMPR1B)
- Allelic: Adrenocortical insufficiency (NR5A1)
- Allelic: Aromatase excess syndrome (CYP19A1)
- Allelic: Blepharophimosis, epicanthus inversus + ptosis, type 1 + 2 (FOXL2)
- Allelic: Brachydactyly, type A1, D + A2 (BMPR1B)
- Allelic: Brachydactyly, type B2 (NOG)
- Allelic: Cardiomyopathy, dilated, 1A (LMNA)
- Allelic: Charcot-Marie-Tooth disease, type 2B1 (LMNA)
- Allelic: Combined oxidative phosphorylation deficiency 8 (AARS2)
- Allelic: D-bifunctional protein deficiency (HSD17B4)
- Allelic: Emery-Dreifuss muscular dystrophy 2, AD (LMNA)
- Allelic: Emery-Dreifuss muscular dystrophy 3, AR (LMNA)
- Allelic: Galloway-Mowat syndrome 7 (NUP107)
- Allelic: Heart-hand syndrome, Slovenian type (LMNA)
- Allelic: Hutchinson-Gilford progeria (LMNAA)
- Allelic: Leukoencephalopathy with vanishing white matter (EIF2B5, EIF2B5)
- Allelic: Leydig cell adenoma, somatic, with precocious puberty (LHCGR)
- Allelic: Leydig cell hypoplasia with hypergonadotropic hypogonadism (LHCGR)
- Allelic: Leydig cell hypoplasia with pseudohermaphroditism (LHCGR)
- Allelic: Lipodystrophy, familial partial, type 2 (LMNA)
- Allelic: Mandibuloacral dysplasia (LMNA)
- Allelic: Mitochondrial DNA depletion syndrome 4A {Alpers type] (POLG)
- Allelic: Mitochondrial DNA depletion syndrome 4B [MNGIE type] (POLG)
- Allelic: Mitochondrial recessive ataxia syndrome [includes SANDO + SCAE] (POLG)
- Allelic: Mosaic variegated aneuploidy syndrome 1 (BUB1B)
- Allelic: Multiple synostoses syndrome 1 (NOG)
- Allelic: Muscular dystrophy, congenital (LMNA)
- Allelic: Nephrotic syndrome, type 11 (NUP107)
- Allelic: Non-obstructive azoospermia (MSH4)
- Allelic: Ovarian response to FSH stimulation (FSHR)
- Allelic: Precocious puberty, male (LHCGR)
- Allelic: Premature chromatid separation trait (BUB1B)
- Allelic: Progressive external ophthalmoplegia with mitochondrial DNA deletions, AD 3 (TWNK)
- Allelic: Progressive external ophthalmoplegia, AD 1 (POLG)
- Allelic: Progressive external ophthalmoplegia, AR 1 (POLG)
- Allelic: Restrictive dermopathy, lethal (LMNA)
- Allelic: Spermatogenic failure 1 (SYCE1)
- Allelic: Spermatogenic failure 32 (SOHLH1)
- Allelic: Spermatogenic failure 52 (C14orf39)
- Allelic: Spermatogenic failure 8 (NR5A1)
- Allelic: Spinal and bulbar muscular atrophy of Kennedy (AR CAG)
- Allelic: Stapes ankylosis with broad thumbs + toes (NOG)
- Allelic: Symphalangism, proximal, 1A (NOG)
- Allelic: Tarsal-carpal coalition syndrome (NOG)
- 17,20-lyase deficiency, isolated (CYP17A1)
- 17-alpha-hydroxylase/17,20-lyase deficiency (CYP17A1)
- Aromatase deficiency (CYP19A1)
- Autoimmune polyendocrinopathy, type I, with/-out reversible metaphyseal dysplasia (AIRE)
- Congenital disorder of glycosylation, type Ia (PMM2)
- Galactosemia (GALT)
- Hypogonadotropic hypogonadism 24 without anosmia (FSHB)
- Leukoencephalopathy, progressive, with ovarian failure (AARS2)
- Luteinizing hormone resistance, female (LHCGR)
- Malouf syndrome (LMNA)
- Muscular dystrophy, congenital hearing loss + ovarian insufficiency syndrome (GGPS1)
- Ovarian dysgenesis 1 (FSHR)
- Ovarian dysgenesis 2 (BMP15)
- Ovarian dysgenesis 3 (PSMC3IP)
- Ovarian dysgenesis 4 (MCM9)
- Ovarian dysgenesis 5 (SOHLH1)
- Ovarian dysgenesis 6 (NUP107)
- Ovarian hyperstimulation syndrome (FSHR)
- Ovarioleukodystrophy (EIF2B4, EIF2B5)
- Perrault syndrome 1 (HSD17B4)
- Perrault syndrome 3 (CLPP)
- Perrault syndrome 5 (TWNK)
- Perrault syndrome [panelapp] (SGO2)
- Premature ovarian failure 1 (POF1; FMR1, 55-200 CCG repeats)
- Premature ovarian failure 10 (MCM8)
- Premature ovarian failure 12 (SYCE1)
- Premature ovarian failure 13 (MSH5)
- Premature ovarian failure 14 (GDF9)
- Premature ovarian failure 18 (C14orf39)
- Premature ovarian failure 2A (DIAPH2)
- Premature ovarian failure 2B (POF1B)
- Premature ovarian failure 3 (FOXL2)
- Premature ovarian failure 4 (BMP15)
- Premature ovarian failure 5 (NOBOX)
- Premature ovarian failure 6 (FIGLA)
- Premature ovarian failure 7 (NR5A1)
- Premature ovarian failure 8 (STAG3)
- Premature ovarian failure 9 (HFM1)
- Premature ovarian failure [panelapp] (BUB1B)
- Premature ovarian failure [panelapp] (EIF4ENIF1)
- Premature ovarian insufficiency [panelapp] (BMPR1B)
- Premature ovarian insufficiency [panelapp] (DACH2)
- Premature ovarian insufficiency [panelapp] (PGRMC1)
- Primary ovarian failure [MONDO:0005387] (MSH4)
- Primary ovarian insufficiency [panelapp] (EIF4ENIF1)
- Primary ovarian insufficiency [panelapp] (NANOS3)
- Primary ovarian insufficiency [panelapp] (NOG)
- Primary ovarian insufficiency [panelapp] (POLR2C)
- Primary ovarian insufficiency [panelapp] (POLR3H)
- Primary ovarian insufficiency [panelapp] (POU5F1)
- Primary ovarian insufficiency [panelapp] (SOHLH2)
- Primary ovarian insufficiency [panelapp] (SYCP2L)
- Retinal dystrophy with/-out extraocular anomalies (RCBTB1)
- AD
- AD und/oder AR
- AD und/oder AR und/oder Dig
- AD und/oder AR und/oder Sus
- AD und/oder Dig
- AR
- AR und/oder Dig
- AR und/oder Sus
- XL
- XL und/oder Dig
- XLD
- XLR
- Multiple OMIM-Ps
Bioinformatik und klinische Interpretation
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