Gene |
Condition |
ANOS1 |
Hypogonadotropic hypogonadism 1 with or without anosmia
(Kallmann syndrome 1) |
AR |
Aplasia of the uterus |
BMP15 |
Premature ovarian failure 4 |
BMP4 |
Microphthalmia, syndromic 6; Orofacial cleft 11 |
CASR |
Hyperparathyroidism, neonatal;
Hypocalcemia, autosomal dominant; Hypocalciuric hypercalcemia, type I |
CFTR |
Cystic fibrosis |
CLPP |
Perrault syndrome 3 |
DUOX2 |
Thyroid dyshormonogenesis 6 |
DUOXA2 |
Thyroid dyshormonogenesis 5 |
DUSP6 |
Hypogonadotropic hypogonadism 19 with or without anosmia |
EIF2B1 |
Leukoencephalopathy with vanishing white matter |
EIF2B2 |
Ovarioleukodystrophy |
EIF2B4 |
Ovarioleukodystrophy |
EIF2B5 |
Ovarioleukodystrophy |
ERCC6 |
Premature ovarian failure 11 |
ESR1 |
Estrogen resistance |
ESR2 |
Ovarian dysgenesis 8 |
F2 |
Thrombophilia due to thrombin defect;
Pregnancy loss, recurrent, susceptibility to, 2 |
F5 |
Thrombophilia due to activated protein C resistance;
Factor V deficiency; Pregnancy loss, recurrent, susceptibility to, 1 |
FEZF1 |
Hypogonadotropic hypogonadism 22, with or without anosmia |
FGF17 |
Hypogonadotropic hypogonadism 20 with or without anosmia |
FGF8 |
Hypogonadotropic hypogonadism 6 with or without anosmia |
FGFR1 |
Hypogonadotropic hypogonadism 2 with or without anosmia |
FIGLA |
Premature ovarian failure 6 |
FLRT3 |
Hypogonadotropic hypogonadism 21 with anosmia |
FMR1 |
Premature ovarian failure 1 |
FOXE1 |
Bamforth-Lazarus syndrome |
FOXL2 |
Premature ovarian failure 3 |
FSHB |
Hypogonadotropic hypogonadism 24 without anosmia |
FSHR |
Ovarian dysgenesis 1;
Ovarian hyperstimulation syndrome;
Ovarian response to FSH stimulation |
GCM2 |
Hyperparathyroidism 4; Hypoparathyroidism, familial isolated |
GDF9 |
Premature ovarian failure 14 |
GHR |
Growth hormone insensitivity, partial; Laron dwarfism |
GLIS3 |
Diabetes mellitus, neonatal, with congenital hypothyroidism |
GNAS |
McCune-Albright syndrome;
ACTH-independent macronodular adrenal hyperplasia;
Pseudohypoparathyroidism Ia; Pseudohypoparathyroidism Ib;
Pseudohypoparathyroidism Ic; Pseudopseudohypoparathyroidism;
Osseous heteroplasia, progressive |
GNRH1 |
Hypogonadotropic hypogonadism 12 with or without anosmia |
GNRHR |
Hypogonadotropic hypogonadism 7 without anosmia |
HARS2 |
Perrault syndrome 2 |
HESX1 |
Growth hormone deficiency with pituitary anomalies |
HFM1 |
Premature ovarian failure 9 |
HSD17B4 |
Perrault syndrome 1 |
HS6ST1 |
Hypogonadotropic hypogonadism 15 with or without anosmia |
IGSF1 |
Hypothyroidism, central, and testicular enlargement |
IL17RD |
Hypogonadotropic hypogonadism 18 with or without anosmia |
IRS4 |
Hypothyroidism, congenital, nongoitrous, 9 |
IYD |
Thyroid dyshormonogenesis 4 |
KISS1 |
Hypogonadotropic hypogonadism 13 with or without anosmia |
KISS1R |
Hypogonadotropic hypogonadism 8 with or without anosmia;
Precocious puberty, central, 1 |
LARS2 |
Perrault syndrome 4 |
LHCGR |
Leydig cell hypoplasia with hypergonadotropic hypogonadism |
LHB |
Isolated lutropin deficiency |
LHX3 |
Pituitary hormone deficiency, combined, 3 |
LHX4 |
Pituitary hormone deficiency, combined, 4 |
MCM8 |
Premature ovarian failure 10 |
MCM9 |
Ovarian dysgenesis 4 |
MSH5 |
Premature ovarian failure 13 |
MRPS22 |
Ovarian dysgenesis 7 |
MTHFR |
Homocystinuria due to MTHFR deficiency |
NKX2-1 |
Choreoathetosis, hypothyroidism, and neonatal respiratory distress |
NKX2-5 |
Hypothyroidism, congenital nongoitrous, 5 |
NOBOX |
Premature ovarian failure 5 |
NR0B1 |
Adrenal hypoplasia, congenital; 46XY sex reversal 2, dosage-sensitive |
NR5A1 |
Premature ovarian failure 7; 46, XX sex reversal 4; 46XY sex reversal 3 |
NSMF |
Hypogonadotropic hypogonadism 9 with or without anosmia |
NUP107 |
Ovarian dysgenesis 6; Nephrotic syndrome, type 11;
Galloway-Mowat syndrome 7 |
OTX2 |
Pituitary hormone deficiency, combined, 6;
Retinal dystrophy, early-onset, with or without pituitary dysfunction |
PADI6 |
Preimplantation embryonic lethality 2 |
PATL2 |
Oocyte maturation defect 4 |
PAX8 |
Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia |
PDE3A |
Hypertension and brachydactyly syndrome |
POLR3B |
Leukodystrophy, hypomyelinating, 8,
with or without oligodontia and/or hypogonadotropic hypogonadism |
POU1F1 |
Pituitary hormone deficiency, combined, 1 |
PROC |
Thrombophilia due to protein C deficiency, autosomal dominant;
Thrombophilia due to protein C deficiency, autosomal recessive |
PROK2 |
Hypogonadotropic hypogonadism 4 with or without anosmia |
PROKR2 |
Hypogonadotropic hypogonadism 3 with or without anosmia |
PROP1 |
Pituitary hormone deficiency, combined, 2 |
PROS1 |
Thrombophilia due to protein S deficiency, autosomal dominant;
Thrombophilia due to protein S deficiency, autosomal recessive |
PSMC3IP |
Ovarian dysgenesis 3 |
SECISBP2 |
Thyroid hormone metabolism, abnormal |
SEMA3A |
Hypogonadotropic hypogonadism 16 with or without anosmia |
SERPINC1 |
Thrombophilia due to antithrombin III deficiency |
SERPINE1 |
Plasminogen activator inhibitor-1 deficiency |
SLC26A4 |
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct;
Pendred syndrome |
SLC5A5 |
Thyroid dyshormonogenesis 1 |
SOHLH1 |
Ovarian dysgenesis 5 |
SOX10 |
PCWH syndrome; Waardenburg syndrome, type 2E,
with or without neurologic involvement; Waardenburg syndrome, type 4C |
SOX2 |
Microphthalmia, syndromic 3 |
SOX3 |
Mental retardation, X-linked,
with isolated growth hormone deficiency; Panhypopituitarism, X-linked |
SPRY4 |
Hypogonadotropic hypogonadism 17 with or without anosmia |
SRA1 |
Hypogonadism with anosmia |
STAG3 |
Premature ovarian failure 8 |
SYCE1 |
Premature ovarian failure 12 |
SYCP3 |
Pregnancy loss, recurrent, 4 |
TAC3 |
Hypogonadotropic hypogonadism 10 with or without anosmia |
TACR3 |
Hypogonadotropic hypogonadism 11 with or without anosmia |
TBL1X |
Hypothyroidism, congenital, nongoitrous, 8 |
TG |
Thyroid dyshormonogenesis 3 |
THBD |
Thrombophilia due to thrombomodulin defect |
THRA |
Hypothyroidism, congenital, nongoitrous, 6 |
THRB |
Thyroid hormone resistance;
Thyroid hormone resistance, autosomal recessive;
Thyroid hormone resistance, selective pituitary |
TPO |
Thyroid dyshormonogenesis 2A |
TRH |
Thyrotropin-releasing hormone deficiency |
TRHR |
Hypothyroidism, congenital, nongoitrous, 7 |
TSHB |
Hypothyroidism, congenital, nongoitrous 4 |
TSHR |
Hyperthyroidism, familial gestational; Hypothyroidism, congenital, nongoitrous, 1 |
TUBB8 |
Oocyte maturation defect 2 |
WDR11 |
Hypogonadotropic hypogonadism 14 with or without anosmia |
WEE2 |
Oocyte maturation defect 5 |
WNT4 |
Mullerian aplasia and hyperandrogenism; SERKAL syndrome |
WT1 |
Frasier syndrome; Denys-Drash syndrome; Meacham syndrome |
ZP1 |
Oocyte maturation defect 1 |
ZP2 |
Oocyte maturation defect 6 |
ZP3 |
Oocyte maturation defect 3 |