MCID: KLL008

Kallmann Syndrome 6 malady

Genetic diseases, Rare diseases, Reproductive diseases, Endocrine diseases, Smell/Taste diseases categories

Aliases & Classifications for Kallmann Syndrome 6

About this section

Aliases & Descriptions for Kallmann Syndrome 6:

Name: Kallmann Syndrome 6 45 65
 
Kal6 45


Classifications:



Summaries for Kallmann Syndrome 6

About this section
MalaCards based summary: Kallmann Syndrome 6, also known as kal6, is related to hypogonadotropic hypogonadism 6 with or without anosmia and fgf8-related isolated gonadotropin-releasing hormone deficiency. An important gene associated with Kallmann Syndrome 6 is FGF8 (Fibroblast Growth Factor 8 (Androgen-Induced)).

Related Diseases for Kallmann Syndrome 6

About this section

Diseases in the Kallmann Syndrome family:

Kallmann Syndrome 3 Kallmann Syndrome 4
Kallmann Syndrome 5 kallmann syndrome 6

Diseases related to Kallmann Syndrome 6 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1hypogonadotropic hypogonadism 6 with or without anosmia10.2
2fgf8-related isolated gonadotropin-releasing hormone deficiency10.2

Symptoms for Kallmann Syndrome 6

About this section

Drugs & Therapeutics for Kallmann Syndrome 6

About this section

Interventional clinical trials:

idNameStatusNCT IDPhase
1Kisspeptin in the Evaluation of Delayed PubertyRecruitingNCT01438034Phase 1
2Health Needs of Men With Kallmann SyndromeActive, not recruitingNCT01914172

Search NIH Clinical Center for Kallmann Syndrome 6

Genetic Tests for Kallmann Syndrome 6

About this section

Anatomical Context for Kallmann Syndrome 6

About this section

Animal Models for Kallmann Syndrome 6 or affiliated genes

About this section

Publications for Kallmann Syndrome 6

About this section

Variations for Kallmann Syndrome 6

About this section

Clinvar genetic disease variations for Kallmann Syndrome 6:

5
id Gene Variation Type Significance SNP ID Assembly Location
1FGF8NM_033163.3(FGF8): c.40C> A (p.His14Asn)single nucleotide variantPathogenicrs137852659GRCh37Chr 10, 103535526: 103535526
2FGF8NM_033163.3(FGF8): c.77C> T (p.Pro26Leu)single nucleotide variantPathogenicrs137852660GRCh37Chr 10, 103534966: 103534966
3FGF8NM_033163.3(FGF8): c.118T> C (p.Phe40Leu)single nucleotide variantPathogenicrs137852661GRCh37Chr 10, 103534925: 103534925
4FGF8NM_033163.3(FGF8): c.298A> G (p.Lys100Glu)single nucleotide variantPathogenicrs137852662GRCh37Chr 10, 103534528: 103534528
5FGF8NM_033163.3(FGF8): c.379C> G (p.Arg127Gly)single nucleotide variantPathogenicrs137852663GRCh37Chr 10, 103531285: 103531285

Expression for genes affiliated with Kallmann Syndrome 6

About this section
Search GEO for disease gene expression data for Kallmann Syndrome 6.

Pathways for genes affiliated with Kallmann Syndrome 6

About this section

GO Terms for genes affiliated with Kallmann Syndrome 6

About this section

Sources for Kallmann Syndrome 6

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet