Kallmann syndrome

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Information
Disease name
Kallmann syndrome
Disease ID
DOID:3614
Description
"A hypogonadotropic hypogonadism with a defective sense of smell (anosmia or hyposmia)." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26194704]
Disease area statistics
Chromosome band
Gene symbol Chromosome Start Stop The number of variant
CHD7 8 60,678,740 60,868,028 20
ANOS1 X 8,528,874 8,732,137 8
SOX10 22 37,972,312 37,984,555 4
POLR2F 22 37,953,697 38,041,106 4
Annotation
Genes Mutation Description Source Links
NCT ID Status Phase Summary Start date Completion date
NCT04733274 Active, not recruiting Patient and Healthcare Professional Views on Genetic/Genomic Information and Testing March 22, 2018 July 1, 2024
NCT01914172 Completed Health Needs of Patients With Kallmann Syndrome July 2013 September 27, 2017
NCT00493961 Completed Phase 1 Studying the Effects of 7 Days of Gonadotropin Releasing Hormone (GnRH) Treatment in Men With Hypogonadism January 1999 November 17, 2009
NCT00494169 Completed Investigation of the Genetic Causes of Kallmann Syndrome and Reproductive Disorders January 1999 February 2022
NCT01438034 Completed Phase 1 Kisspeptin in the Evaluation of Delayed Puberty June 8, 2013 September 10, 2021
NCT00392756 Completed Phase 1 Examination of Idiopathic Hypogonadotropic Hypogonadism (IHH)and Kallmann Syndrome (KS) April 1989 May 16, 2019
NCT00392457 Completed N/A Investigating the Regulation of Reproductive Hormones in Adult Men July 1995 February 2007
NCT01403532 Completed Phase 4 Sequential Therapy for Hypogonadotropic Hypogonadism September 2009 December 2012
NCT00623116 Enrolling by invitation N/A A Study to Characterize Epidemiology, Clinical and Genetic Features of Kallmann Syndrome in Finland December 2007 December 2025
NCT05971836 Recruiting The Molecular Basis of Inherited Reproductive Disorders January 21, 2021 March 2026
NCT00914823 Recruiting Phase 1 Kisspeptin Administration in the Adult June 23, 2009 August 2025
NCT01601171 Recruiting Genetics of Reproductive Disorders (Including Kallmann Syndrome) and Cleft Lip and/or Palate March 2012 March 2030
NCT03687606 Recruiting Phase 4 Efficacy and Safety of Long Term Use of hCG or hCG Plus hMG in Males With Isolated Hypogonadotropic Hypogonadism (IHH) October 18, 2018 October 1, 2025
NCT04463316 Recruiting GROWing Up With Rare GENEtic Syndromes October 1, 2018 January 1, 2030
NCT00064987 Terminated Phase 2 Follicle Stimulating Hormone (FSH) to Improve Testicular Development in Men With Hypogonadism April 2001 October 2012
NCT03118479 Terminated Phase 1 Effect of Varying Testosterone Levels on Insulin Sensitivity in Men With Idiopathic Hypogonadotropic Hypogonadism (IHH) May 2010 September 1, 2010
NCT02880280 Unknown status Phase 4 Human Menopausal Gonadotropin Combining With Human Chorionic Gonadotropin Treat Congenital Hypogonadotropic Hypogonadism August 2016 December 2018
Disase is a (Disease Ontology)
DOID:0090070
Cross Reference ID (Disease Ontology)
GARD:10771
Cross Reference ID (Disease Ontology)
ICD10CM:E23.0
Cross Reference ID (Disease Ontology)
MESH:D017436
Cross Reference ID (Disease Ontology)
NCI:C75479
Cross Reference ID (Disease Ontology)
ORDO:478
Cross Reference ID (Disease Ontology)
SNOMEDCT_US_2023_03_01:190559001
Cross Reference ID (Disease Ontology)
UMLS_CUI:C0162809
Exact Synonym (Disease Ontology)
familial hypogonadism with anosmia
Exact Synonym (Disease Ontology)
Hypogonadism with anosmia
Exact Synonym (Disease Ontology)
Kallman syndrome
Exact Synonym (Disease Ontology)
Kallman's syndrome
OrphaNumber from OrphaNet (Orphanet)
478
MeSH unique ID (MeSH (Medical Subject Headings))
D017436