Hypogonadotropic Hypogonadism 1 With Or Without Anosmia; Hh1
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
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
And another 32 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— 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.
Accelerate your rare disease diagnosis with us
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
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 % |
Sources and references
You can check the following sources for additional information.
ORPHANET OMIM Rare Disease Search EngineIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like OVARIAN CANCER SPINOCEREBELLAR ATAXIA 7; SCA7 JOUBERT SYNDROME 2; JBTS2
Need help with a diagnosis?
Learn more about how to achieve it with Mendelian
