Hypogonadotropic Hypogonadism 1 With Or Without Anosmia; Hh1

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.'For information on the autosomal forms of hypogonadotropic hypogonadism with or without anosmia, see {147950}.

Genes related to Hypogonadotropic Hypogonadism 1 With Or Without Anosmia; Hh1

ANOS1

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Clinical Features

Top most frequent phenotypes and symptoms related to Hypogonadotropic Hypogonadism 1 With Or Without Anosmia; Hh1

Hearing impairment
Ataxia
Sensorineural hearing impairment
Cleft palate
Cryptorchidism
High palate
Pes cavus
Hypogonadism
Micropenis
Cleft lip

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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.

Alternative names

Hypogonadotropic Hypogonadism 1 With Or Without Anosmia; Hh1 Is also known as anosmic hypogonadism, hha, kallmann syndrome 1, dysplasia olfactogenitalis of de morsier, hypogonadotropic hypogonadism and anosmia, kms, kal1.

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 1 With Or Without Anosmia; Hh1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Anosmic Kallmann/IHH Evaluation. By Athena Diagnostics Inc (United States). PROKR2, PROK2, FGF8, FGFR1, GNRHR, KISS1R, ANOS1 Specificity 15 % Genes 100 %
KAL1 DNA Sequencing Test. By Athena Diagnostics Inc (United States). ANOS1 Specificity 100 % Genes 100 %
Complete Kallmann/IHH Evaluation. By Athena Diagnostics Inc (United States). TACR3, PROKR2, PROK2, CHD7, FGF8, FGFR1, GNRH1, GNRHR, KISS1R, ANOS1 Specificity 10 % Genes 100 %
Abnormal/Ambiguous Genitalia Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). ROR2, SALL1, BMP4, SEMA3A, SOX9, SRD5A2, SRY, STAR, TBX15, CEP41, TSPYL1, WNT4, WNT7A, WT1, SETBP1, ZFPM2, UBR1, FIG4, IL17RD, CDKN1C , (...) View the complete list with 52 more genes Panel complete gene list ROR2, SALL1, BMP4, SEMA3A, SOX9, SRD5A2, SRY, STAR, TBX15, CEP41, TSPYL1, WNT4, WNT7A, WT1, SETBP1, ZFPM2, UBR1, FIG4, IL17RD, CDKN1C, ARX, GRIP1, FRAS1, SCARF2, B3GLCT, CHD7, BCOR, ICK, RSPO1, WDR60, FEZF1, FAT4, CREBBP, TCTN3, FREM2, CYB5A, CYP11A1, CYP11B1, CYP17A1, CYP19A1, ESCO2, CCNQ, DHCR24, DHCR7, DHH, SPECC1L, DYNC2H1, DNMT3B, NSMF, AKR1C2, GATA4, KISS1R, HCCS, RIPK4, HOXA13, HSD17B3, HSD3B2, IRF6, ANOS1, AR, LHCGR, LMNA, MAP3K1, MKKS, MKS1, NEK1, NR0B1, NR5A1, OPHN1, ATRX, POR, PTPN11 Specificity 2 % Genes 100 %
Hypogonadotropic Hypogonadism Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). TAC3, TACR3, WDR11, PROKR2, IL17RD, PROK2, CHD7, FEZF1, NSMF, FGF17, FGF8, FGFR1, FSHB, GNRH1, GNRHR, KISS1R, ANOS1, LHB, NR0B1 Specificity 6 % Genes 100 %
Hypogonadotropic Hypogonadism Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago (United States). TAC3, TACR3, WDR11, PROKR2, IL17RD, PROK2, CHD7, FEZF1, NSMF, FGF17, FGF8, FGFR1, FSHB, GNRH1, GNRHR, KISS1R, ANOS1, LHB, NR0B1 Specificity 6 % Genes 100 %
Kallmann Syndrome Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). TAC3, TACR3, WDR11, PROKR2, IL17RD, PROK2, CHD7, FEZF1, NSMF, FGF17, FGF8, FGFR1, GNRH1, KISS1R, ANOS1, KISS1, LHB Specificity 6 % Genes 100 %
Kallmann syndrome. By Cytogenetics Laboratory SUNY Upstate Medical University (United States). ANOS1 Specificity 100 % Genes 100 %

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Sources and references

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ORPHANET OMIM Rare Disease Search Engine

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