Hypogonadotropic Hypogonadism 17 With Or Without Anosmia; Hh17

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH ) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'For a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia as well as a discussion of oligogenicity of this disorder, see {147950}.

Genes related to Hypogonadotropic Hypogonadism 17 With Or Without Anosmia; Hh17

SPRY4

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Clinical Features

Phenotypes and symptoms related to Hypogonadotropic Hypogonadism 17 With Or Without Anosmia; Hh17

Hearing impairment
Sensorineural hearing impairment
Cleft palate
Abnormality of the dentition
Hypogonadism
Anosmia

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Hypogonadotropic Hypogonadism 17 With Or Without Anosmia; Hh17 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hypogonadism hypogonadotropic (NGS panel of 26 genes). By CGC Genetics (Portugal). SEMA3A, TAC3, TACR3, WDR11, SPRY4, PROKR2, IL17RD, PROK2, CHD7, FEZF1, NSMF, DUSP6, FGF17, FGF8, FGFR1, FLRT3, FSHB, GNRH1, GNRHR, KISS1R , (...) View the complete list with 6 more genes Panel complete gene list SEMA3A, TAC3, TACR3, WDR11, SPRY4, PROKR2, IL17RD, PROK2, CHD7, FEZF1, NSMF, DUSP6, FGF17, FGF8, FGFR1, FLRT3, FSHB, GNRH1, GNRHR, KISS1R, HESX1, HS6ST1, ANOS1, KISS1, LHB, NR0B1 Specificity 4 % Genes 100 %
Hypogonadism hypogonadotropic (NGS panel of 26 genes). By CGC Genetics (Portugal). SEMA3A, TAC3, TACR3, WDR11, SPRY4, PROKR2, IL17RD, PROK2, CHD7, FEZF1, NSMF, DUSP6, FGF17, FGF8, FGFR1, FLRT3, FSHB, GNRH1, GNRHR, KISS1R , (...) View the complete list with 6 more genes Panel complete gene list SEMA3A, TAC3, TACR3, WDR11, SPRY4, PROKR2, IL17RD, PROK2, CHD7, FEZF1, NSMF, DUSP6, FGF17, FGF8, FGFR1, FLRT3, FSHB, GNRH1, GNRHR, KISS1R, HESX1, HS6ST1, ANOS1, KISS1, LHB, NR0B1 Specificity 4 % Genes 100 %
Hypogonadotropic Hypogonadism/Kallmann Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). SEMA3A, SEMA3E, SOX10, SOX2, SOX3, TAC3, TACR3, WDR11, SPRY4, PROKR2, IL17RD, PROK2, CHD7, LHX4, FEZF1, CCDC141, NSMF, DUSP6, FGF17, FGF8 , (...) View the complete list with 17 more genes Panel complete gene list SEMA3A, SEMA3E, SOX10, SOX2, SOX3, TAC3, TACR3, WDR11, SPRY4, PROKR2, IL17RD, PROK2, CHD7, LHX4, FEZF1, CCDC141, NSMF, DUSP6, FGF17, FGF8, FGFR1, FLRT3, FSHB, GNRH1, GNRHR, KISS1R, HESX1, HS6ST1, ANOS1, KISS1, LEP, LEPR, LHX3, NR0B1, PCSK1, AXL, PROP1 Specificity 3 % Genes 100 %
Female Infertility Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). BMP15, SEMA3A, SEMA3E, FOXL2, SOX10, SOX2, SOX3, SOX9, SRA1, SRD5A2, SRY, STAG3, STAR, TAC3, TACR3, WNT4, WT1, WWOX, ZP1, ARL6 , (...) View the complete list with 84 more genes Panel complete gene list BMP15, SEMA3A, SEMA3E, FOXL2, SOX10, SOX2, SOX3, SOX9, SRA1, SRD5A2, SRY, STAG3, STAR, TAC3, TACR3, WNT4, WT1, WWOX, ZP1, ARL6, WDR11, CBX2, SPRY4, PROKR2, MCM8, TRIM32, IL17RD, PSMC3IP, ARX, PROK2, BBS7, TTC8, HFM1, PADI6, CHD7, CLPP, MCM9, RSPO1, LHX4, NOBOX, FEZF1, FIGLA, MAMLD1, CYP11A1, CYP17A1, CYP19A1, BBS10, BBS12, CCDC141, SOHLH1, DHH, SYCE1, DMRT1, DMRT2, NSMF, NUP107, BBS9, DUSP6, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, AIRE, FGF17, FGF8, FGFR1, FGFR2, FLRT3, AKR1C4, FSHB, FSHR, GALT, GNRH1, GNRHR, KISS1R, HESX1, HFE, HS6ST1, HSD17B3, ANOS1, KISS1, AR, LEP, LEPR, LHB, LHCGR, LHX3, LMNA, MAP3K1, MKKS, NR0B1, NR3C1, NR5A1, PCSK1, ATRX, AXL, POR, PRLR, PROP1, BBS1, BBS2, BBS4, BBS5 Specificity 1 % Genes 100 %
Male Infertility Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). SEMA3A, SEMA3E, FOXL2, BRDT, SOX10, SOX2, SOX3, SOX9, SRA1, SRD5A2, SRY, STAR, AURKC, TAC3, TACR3, TAF4B, TEX11, WNT4, WT1, WWOX , (...) View the complete list with 87 more genes Panel complete gene list SEMA3A, SEMA3E, FOXL2, BRDT, SOX10, SOX2, SOX3, SOX9, SRA1, SRD5A2, SRY, STAR, AURKC, TAC3, TACR3, TAF4B, TEX11, WNT4, WT1, WWOX, ARL6, WDR11, SLC26A8, CBX2, SPRY4, PROKR2, SUN5, TRIM32, CATSPER1, IL17RD, ARX, SYCP3, PROK2, BBS7, KLHL10, CFTR, PLCZ1, TTC8, CHD7, ZMYND15, RSPO1, GALNTL5, LHX4, FEZF1, NANOS1, CFAP44, MAMLD1, CYP11A1, CYP17A1, CYP19A1, BBS10, SEPT12, BBS12, CFAP43, CCDC141, DHH, SYCE1, DMRT1, DMRT2, DNAH1, NSMF, SPATA16, BBS9, DUSP6, AIRE, FGF17, FGF8, FGFR1, FGFR2, FLRT3, AKR1C4, FSHB, GATA4, GNRH1, GNRHR, KISS1R, ADGRG2, AMH, AMHR2, HESX1, HFE, HS6ST1, HSD17B3, INSL3, ANOS1, KISS1, AR, LEP, LEPR, LHB, LHCGR, LHX3, MAP3K1, MKKS, NPAS2, NR0B1, NR5A1, PCSK1, ATRX, AXL, POR, PICK1, PROP1, BBS1, BBS2, BBS4, BBS5 Specificity 1 % Genes 100 %
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). ROR2, SALL1, BMP15, BMP4, SEMA3A, SEMA3E, BMP7, FOXL2, BRDT, SOS1, SOX10, SOX2, SOX3, SOX9, SRA1, SRD5A2, SRY, STAG3, STAR, AURKC , (...) View the complete list with 187 more genes Panel complete gene list ROR2, SALL1, BMP15, BMP4, SEMA3A, SEMA3E, BMP7, FOXL2, BRDT, SOS1, SOX10, SOX2, SOX3, SOX9, SRA1, SRD5A2, SRY, STAG3, STAR, AURKC, TAC3, TACR3, TAF4B, TBX15, HNF1B, TEX11, MED12, CEP41, TSPYL1, WNT4, WNT5A, WNT7A, WT1, WWOX, ZP1, ARL6, FBXL4, WDR11, SLC26A8, ZEB2, CBX2, SPRY4, SETBP1, PROKR2, TOE1, TP63, PCNT, MCM8, SUN5, TRIM32, ZFPM2, UBR1, FIG4, CATSPER1, IL17RD, CDKN1C, PSMC3IP, ARX, SYCP3, HHAT, PROK2, GRIP1, BBS7, KLHL10, CFTR, FRAS1, CHD4, PLCZ1, EVC2, TTC8, HFM1, B3GLCT, PADI6, CHD7, TWIST2, CLPP, BCOR, ZMYND15, CUL7, ICK, MCM9, RSPO1, GALNTL5, LHX4, WDR60, NOBOX, FEZF1, NANOS1, FAT4, CREBBP, FIGLA, FREM2, CFAP44, MAMLD1, CYB5A, CYP11A1, CYP11B1, CYP17A1, CYP19A1, TMEM70, BBS10, SEPT12, BBS12, CFAP43, CCDC141, ESCO2, SOHLH1, CCNQ, DHCR24, DHCR7, DHH, SYCE1, SPECC1L, WDR35, EPG5, DMRT1, DMRT2, DNAH1, DYNC2H1, DNMT3B, NSMF, NUP107, SPATA16, BBS9, DUSP6, TRAIP, BNC2, EFNB1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EVC, AIRE, FGF10, FGF17, FGF8, FGFR1, FGFR2, FGFR3, FLNA, FLRT3, AKR1C4, FSHB, FSHR, GALT, GATA4, GLI3, GNRH1, GNRHR, GPC3, KISS1R, ADGRG2, AMH, AMHR2, HBA1, HCCS, HESX1, HFE, RIPK4, HOXA13, HOXA4, HOXB6, HS6ST1, HSD17B3, HSD17B4, HSD3B2, INSL3, IRF6, ANOS1, KISS1, AR, LEP, LEPR, LHB, LHCGR, LHX3, LMNA, MAP3K1, MID1, MKKS, MKS1, NEK1, ATF3, NPAS2, NR0B1, NR3C1, NR5A1, OPHN1, PCSK1, PDE4D, PEX1, ATRX, PITX2, AXL, POR, PICK1, PRLR, PROP1, PTDSS1, PTPN11, BBS1, BBS2, BBS4, BBS5, RBBP8 Specificity 1 % Genes 100 %
SPRY4. By Fulgent Genetics Fulgent Genetics (United States). SPRY4 Specificity 100 % Genes 100 %
HYPOGONADOTROPIC HYPOGONADISM WITH ANOSMIA (KALLLMAN SYNDROME) NGS PANEL. By Laboratorio de Genetica Clinica SL (Spain). SEMA3A, TAC3, TACR3, WDR11, SPRY4, PROKR2, IL17RD, PROK2, CHD7, FEZF1, NSMF, DUSP6, FGF17, FGF8, FGFR1, FLRT3, FSHB, GNRH1, GNRHR, KISS1R , (...) View the complete list with 5 more genes Panel complete gene list SEMA3A, TAC3, TACR3, WDR11, SPRY4, PROKR2, IL17RD, PROK2, CHD7, FEZF1, NSMF, DUSP6, FGF17, FGF8, FGFR1, FLRT3, FSHB, GNRH1, GNRHR, KISS1R, HESX1, HS6ST1, ANOS1, KISS1, LHB Specificity 4 % Genes 100 %

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