Belgian Genetic Tests database- Diseases
- Isolated follicle stimulating hormone deficiency
Isolated follicle stimulating hormone deficiency
| Name: |
Isolated follicle stimulating hormone deficiency
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| Description: |
A rare congenital hypogonadotropic hypogonadism characterized by hypogonadism due to selective deficiency of follicle stimulating hormone (FSH). Clinical manifestations are primary amenorrhea, absent or incomplete breast development, and infertility in women, and small testes, azoospermia, and infertility in men. Luteinizing hormone is elevated in the gonadotropin-releasing hormone stimulation test, while the FSH response is impaired.
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| ORPHAcode: |
52901
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| Synonyms: |
Isolated FSH deficiency
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| XREF(s): | |
| Analyte(s): | |
| Created: |
13 May 2019 - 01:02
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| Changed: |
22 Jun 2023 - 16:14
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Hypogonadotropic Hypogonadism/Kallmann (61 genes) - ULG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments LEPR 98.65 0 NM_002303 KISS1 99.66 0 NM_002256 RD3 99.63 0 NM_183059 HS6ST1 92.39 0 NM_004807 CXCR4 99.63 0 NM_003467 CCDC141 97.45 0 NM_173648 NRP2 99.58 0 NM_201266 IL17RD 94.68 0 NM_017563 HESX1 98.36 0 NM_003865 PROK2 90.75 0 NM_001126128 GAP43 97.81 0 NM_001130064 PLXNA1 99.67 0 NM_032242 SOX2 95.94 0 NM_003106 KLB 99.62 0 NM_175737 GNRHR 99.45 0 NM_000406 TACR3 99.41 0 NM_001059 OTUD4 98.02 0 NM_001102653 PCSK1 99.63 0 NM_000439 SOX9 99.60 0 NM_001035235 SPRY4 99.69 0 NM_030964 PROP1 99.69 0 NM_006261 GLI3 99.55 0 NM_000168 SEMA3E 99.45 0 NM_012431 SEMA3A 99.53 0 NM_006080 FEZF1 99.43 0 NM_001024613 LEP 99.69 0 NM_000230 FGF17 99.67 0 NM_003867 GNRH1 99.54 0 NM_000825 FGFR1 99.69 0 NM_023110 CHD7 99.53 0 NM_017780 TRAPPC9 99.57 0 NM_031466 PALM2 98.64 0 NM_001037293 NOTCH1 96.74 0 NM_017617 NSMF 93.42 0 NM_015537 MASTL 99.20 0 NM_032844 FGF8 78.88 0 NM_033163 WDR11 99.33 0 NM_018117 CCKBR 99.61 0 NM_176875 FSHB 99.64 0 NM_000510 PLEKHA5 98.89 0 NM_001143821 PDE3A 99.05 0 NM_000921 TSPAN11 99.69 0 NM_001080509 AMN1 99.52 0 NM_001113402 TAC3 99.64 0 NM_013251 DUSP6 99.68 0 NM_001946 POLR3B 99.29 0 NM_018082 CRY1 99.26 0 NM_004075 NOS1 99.42 0 NM_000620 SEMA7A 92.63 0 NM_003612 DCC 99.55 0 NM_005215 KISS1R 85.01 0 NM_032551 AXL 99.69 0 NM_021913 LHB 99.69 0 NM_000894 PROKR2 99.69 0 NM_144773 JAG1 97.49 0 NM_000214 FLRT3 99.67 0 NM_198391 SOX10 93.26 0 NM_006941 ANOS1 93.11 0 NM_000216 NR0B1 99.34 0 NM_000475 FGF13 99.32 0 NM_004114 SOX3 83.29 0 NM_005634 -
Hypogonadotropic hypogonadism (33 genes) - VUB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ANOS1 95.04 0 No comment CHD7 100.00 0 No comment DMXL2 100.00 0 No comment DUSP6 100.00 0 No comment FEZF1 100.00 0 No comment FGF17 100.00 0 No comment FGF8 94.82 0 No comment FGFR1 100.00 0 No comment FLRT3 100.00 0 No comment FSHB 100.00 0 No comment GNRH1 100.00 0 No comment GNRHR 100.00 0 No comment HESX1 100.00 0 No comment HS6ST1 98.52 0 No comment IL17RD 98.31 0 No comment KISS1 100.00 0 No comment KISS1R 94.58 0 No comment LHB 97.18 0 No comment MKRN3 100.00 0 No comment NR0B1 100.00 0 No comment NSMF 95.23 0 No comment OTUD4 100.00 0 No comment PCSK1 100.00 0 No comment PNPLA6 100.00 0 No comment PROK2 98.51 0 No comment PROKR2 100.00 0 No comment RNF216 100.00 0 No comment SEMA3A 100.00 0 No comment SEMA7A 93.22 0 No comment SOX10 96.79 0 No comment TAC3 100.00 0 No comment TACR3 100.00 0 No comment WDR11 100.00 0 No comment