KAL6
MCID: KLL008
MIFTS: 13

Kallmann Syndrome 6 (KAL6) malady

Categories: Rare diseases, Reproductive diseases, Endocrine diseases, Smell/Taste diseases, Genetic diseases

Aliases & Classifications for Kallmann Syndrome 6

Aliases & Descriptions for Kallmann Syndrome 6:

Name: Kallmann Syndrome 6 50 29 69
Kal6 50

Classifications:



Summaries for Kallmann Syndrome 6

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).

Related Diseases for Kallmann Syndrome 6

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:

id Related Disease Score Top Affiliating Genes
1 hypogonadotropic hypogonadism 6 with or without anosmia 11.0
2 fgf8-related isolated gonadotropin-releasing hormone deficiency 11.0

Symptoms & Phenotypes for Kallmann Syndrome 6

Drugs & Therapeutics for Kallmann Syndrome 6

Interventional clinical trials:


id Name Status NCT ID Phase
1 Kisspeptin in the Evaluation of Delayed Puberty Recruiting NCT01438034 Phase 1
2 Health Needs of Patients With Kallmann Syndrome Active, not recruiting NCT01914172

Search NIH Clinical Center for Kallmann Syndrome 6

Genetic Tests for Kallmann Syndrome 6

Genetic tests related to Kallmann Syndrome 6:

id Genetic test Affiliating Genes
1 Kallmann Syndrome 6 29

Anatomical Context for Kallmann Syndrome 6

Publications for Kallmann Syndrome 6

Variations for Kallmann Syndrome 6

ClinVar genetic disease variations for Kallmann Syndrome 6:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 FGF8 NM_033163.3(FGF8): c.40C> A (p.His14Asn) single nucleotide variant Pathogenic rs137852659 GRCh37 Chromosome 10, 103535526: 103535526
2 FGF8 NM_033163.3(FGF8): c.118T> C (p.Phe40Leu) single nucleotide variant Pathogenic rs137852661 GRCh37 Chromosome 10, 103534925: 103534925
3 FGF8 NM_033163.3(FGF8): c.298A> G (p.Lys100Glu) single nucleotide variant Pathogenic rs137852662 GRCh37 Chromosome 10, 103534528: 103534528
4 FGF8 NM_033163.3(FGF8): c.379C> G (p.Arg127Gly) single nucleotide variant Pathogenic rs137852663 GRCh37 Chromosome 10, 103531285: 103531285

Expression for Kallmann Syndrome 6

Search GEO for disease gene expression data for Kallmann Syndrome 6.

Pathways for Kallmann Syndrome 6

GO Terms for Kallmann Syndrome 6

Sources for Kallmann Syndrome 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....