Table:
Genes associated with congenital hypogonadotropic hypogonadism or self-limited delayed puberty
| Inheritance | Contributes to oligogenity | Kallmann syndrome | CHH | Reversal | Self-limited delayed puberty | Other phenotypic or syndromic features | Phenotype MIM ID | |
|---|---|---|---|---|---|---|---|---|
| AMH | AD | ·· | Yes | Yes | ·· | Yes | ·· | ·· |
| AMHR2 | AD | ·· | Yes | Yes | ·· | Yes | ·· | ·· |
| ANOS1 (KAL1) | XLR | Yes | Yes | Yes | Yes | Yes | Bimanual synkinesis, aplasia or hypoplasia of olfactory bulbs, unilateral renal aplasia | 308700 |
| AXL | AD | ·· | Yes | Yes | ·· | Yes | ·· | ·· |
| BBS1, BBS2, ARL6, BBS4, BBS5, MKKS, BBS7, TTC8, BBS9, BBS10, TRIM32, BBS12 | AR, DR | Yes | ·· | Yes | ·· | ·· | Bardet-Biedl syndrome | 209900 |
| CCDC141 | AD, AR | ·· | Yes | Yes | ·· | Yes | ·· | ·· |
| CHD7 | AD | Yes | Yes | Yes | Yes | Yes | CHARGE syndrome | 612370 |
| CPE | AR | ·· | ·· | Yes | ·· | ·· | BDV syndrome | 114855 |
| DCAF17 | AR | ·· | ·· | Yes | ·· | ·· | Woodhouse-Sakati syndrome, alopecia, diabetes mellitus, mental retardation, deafness | 241080 |
| DCC/NTN1 | AD | Yes | Yes | Yes | ·· | Yes | Synkinesis, mid brain malformation, deafness | ·· |
| DMXL2 | AD, AR | ·· | ·· | Yes | ·· | ·· | PEPNS (polyendocrine polyneuropathy) | 616113 |
| DUSP6 | AD | ·· | Yes | Yes | ·· | ·· | Dental agenesis, syndactyly, color blindness | 615269 |
| EAP1 (IRF2BPL) | AD | ·· | ·· | ·· | ·· | Yes | ·· | 611720 |
| FEZF1 | AR | ·· | Yes | Yes | ·· | Yes | ·· | 616030 |
| FGF17 | AD | Yes | Yes | Yes | ·· | ·· | ·· | 615270 |
| FGF8 | AD | Yes | Yes | Yes | ·· | ·· | Combined pituitary hormone deficiency | 612702 |
| FGFR1 | AD | Yes | Yes | Yes | Yes | Yes | SOD, Hartsfield syndrome, split hand/foot malformation, combined pituitary hormone deficiency, bimanual synkinesis | 147950 |
| FLRT3 | AD | Yes | Yes | Yes | ·· | ·· | ·· | 615271 |
| FSHB | AR | ·· | ·· | Yes | ·· | ·· | ·· | 229070 |
| FTO | AD | ·· | ·· | ·· | ·· | Yes | ·· | 612938 |
| GNRH1 | AR | ·· | ·· | Yes | ·· | ·· | ·· | 614841 |
| GNRHR | AR | Yes | ·· | Yes | Yes | Yes | ·· | 146110 |
| HDAC8 | XLR | ·· | ·· | ·· | ·· | Cornelia de Lange syndrome | 300882 | |
| HESX1 | AD, AR | ·· | Yes | Yes | ·· | ·· | Combined pituitary hormone deficiency, SOD | 182230 |
| HFE | AD, AR | ·· | ·· | ·· | ·· | ·· | Hereditary hemochromatosis | 235200 |
| HS6ST1 | AD | Yes | Yes | Yes | Yes | Yes | ·· | 614880 |
| IGSF1 | XLR | ·· | ·· | Yes | ·· | Yes | Central hypothyroidism, macroorchidism | 300888 |
| IGSF10 | AD | ·· | ·· | ·· | ·· | Yes | ·· | 617351 |
| IL17RD (SEF) | AD, AR or digenic dominant | Yes | Yes | Yes | ·· | Yes | ·· | 615267 |
| KISS1 | AR | ·· | ·· | Yes | ·· | ·· | ·· | 614842 |
| KISS1R | AR | Yes | ·· | Yes | ·· | ·· | ·· | 614837 |
| KLB | AD, complex | Yes | Yes | Yes | Yes | Yes | Obesity, insulin resistance | ·· |
| LEP | AR | ·· | ·· | Yes | ·· | ·· | Obesity, recurrent respiratory infections | 614962 |
| LEPR | AR | Yes | ·· | Yes | ·· | Obesity, recurrent respiratory infections | 614963 | |
| LGR4 | AD | ·· | ·· | ·· | Yes | ·· | 619613 | |
| LHB | AR | ·· | ·· | Yes | ·· | ·· | ·· | 228300 |
| LHX | AR | ·· | ·· | Yes | ·· | ·· | Combined pituitary hormone deficiency, sensorineural deafness (variable) | 221750 |
| NDN, SNRPN | AD, deletion of the paternal copy | ·· | ·· | Yes | ·· | ·· | Prader-Willi syndrome | 176270 |
| NDNF | AD | ·· | Yes | Yes | ·· | Yes | ·· | 616506 |
| NR0B1 (DAX1) | XLR | ·· | ·· | Yes | ·· | ·· | Congenital adrenal hypoplasia | 300200 |
| NRP1 | AD | Yes | Yes | Yes | ·· | ·· | ·· | ·· |
| NRP2 | AD | Yes | Yes | Yes | ·· | ·· | ·· | ·· |
| NSMF (NELF) | AD | Yes | Yes | Yes | Yes | ·· | ·· | 614838 |
| OTUD4, RNF216 | AR | ·· | ·· | Yes | ·· | ·· | Gordon Holmes syndrome | 212840 |
| PCSK1 | AR | ·· | ·· | Yes | ·· | ·· | Obesity, small-intestinal dysfunction, complex endocrinopathies | 600955 |
| PHF6 | XLR | ·· | ·· | Yes | ·· | ·· | Börjeson-Forssman-Lehmann syndrome | 301900 |
| PLXNA1 | AD | Yes | Yes | Yes | ·· | Yes | ·· | |
| PLXNA3 | Complex | Yes | Yes | Yes | ·· | ·· | ·· | ·· |
| PNPLA6 | AR | ·· | ·· | Yes | ·· | ·· | Boucher-Neuhauser, Gordon Holmes, Oliver McFarlane, Lawrence Moon syndromes | 215470 |
| POLR3A | AR | ·· | ·· | Yes | ·· | ·· | Leukodystrophy, oligodontia, ataxia | 607694 |
| POLR3B | AR | ·· | ·· | Yes | ·· | ·· | Leukodystrophy, oligodontia, ataxia | 614381 |
| PROK2 | AD | Yes | Yes | Yes | ·· | ·· | ·· | 610628 |
| PROKR2 | AD | Yes | Yes | Yes | Yes | Yes | Combined pituitary hormone deficiency, synkinesis | 244200 |
| PROP1 | AR | ·· | ·· | Yes | ·· | ·· | Combined pituitary hormone deficiency | 262600 |
| RAB18 | AR | ·· | ·· | Yes | ·· | ·· | Warburg micro syndrome | 614222 |
| RAB3GAP1 | AR | ·· | ·· | Yes | ·· | ·· | Warburg micro syndrome | 600118 |
| RAB3GAP2 | AR | ·· | ·· | Yes | ·· | ·· | Martsolf syndrome | 212720 |
| REV3L/PLXND1 | AD | ·· | Yes | ·· | Yes | ·· | Moebius syndrome | ·· |
| RMB28 | AR | ·· | ·· | ·· | ·· | ·· | Alopecia, neurological defects, and endocrinopathy syndrome | 612079 |
| SEMA3A | AD | Yes | Yes | ·· | ·· | Yes | ·· | 614897 |
| SEMA3F | complex | Yes | Yes | Yes | ·· | ·· | ·· | ·· |
| SEMA3E | AD | ·· | Yes | Yes | ·· | ·· | CHARGE syndrome | 608166 |
| SEMA7A * | DR | Yes | Yes | Yes | ·· | ·· | Pending full validation | ·· |
| SMCHD1 | AD | ·· | ·· | Yes | ·· | ·· | Bosma arhinia microphthalmia syndrome | 603457 |
| SOX10 | AD | ·· | Yes | Yes | ·· | ·· | Waardenburg syndrome type 2E | 611584 |
| SOX2 | AD | ·· | ·· | Yes | ·· | ·· | Optic nerve hypoplasia, CNS abnormalities | 206900 |
| SOX3 | XLR | Yes | ·· | Yes | ·· | ·· | Intellectual disability, craniofacial abnormalities, multiple pituitary hormone deficiency | ·· |
| SPRY4 | AD | Yes | Yes | Yes | ·· | ·· | Hearing loss | 615266 |
| SRA1 | AD | ·· | ·· | Yes | ·· | ·· | ·· | ·· |
| STUB1 | AR | ·· | ·· | ·· | ·· | ·· | Spinocerebellar ataxia | 615768 |
| TAC3 | AR | Yes | Yes | Yes | Yes | Yes | ·· | 614839 |
| TACR3 | AR | Yes | ·· | Yes | Yes | Yes | ·· | 614840 |
| TBC1D20 | AR | ·· | ·· | Yes | ·· | ·· | Warburg micro syndrome | 615663 |
| TCF12 | AD | ·· | Yes | Yes | ·· | ·· | Craniosynostosis 3 | 615314 |
| TUBB3 | AD | ·· | Yes | Yes | ·· | ·· | Congenital fibrosis of the extraocular muscles | 600638 |
| WDR11 | AD | Yes | Yes | Yes | Yes | ·· | Combined pituitary hormone deficiency | 614858 |
AD=autosomal dominant. AR=autosomal recessive. CHARGE=coloboma of the eye, heart defects, atresia choanae, retardation of growth, genital abnormalities, and ear abnormalities. CHH=congenital hypogonadotropic hypogonadism. DR=digenic recessive. XLR=X-linked recessive. MIM=Mendelian Inheritance in Man.
*
Pending full validation.