MCID: KLL008
MIFTS: 10

Kallmann Syndrome 6

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

Aliases & Classifications for Kallmann Syndrome 6

MalaCards integrated aliases for Kallmann Syndrome 6:

Name: Kallmann Syndrome 6 53 29 6 73
Kal6 53

Classifications:



External Ids:

UMLS 73 C2675188

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 semilobar holoprosencephaly. 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:

# Related Disease Score Top Affiliating Genes
1 hypogonadotropic hypogonadism 6 with or without anosmia 11.2
2 semilobar holoprosencephaly 9.2 FGF8 LOC105378457
3 kallmann syndrome 9.0 FGF8 LOC105378457

Symptoms & Phenotypes for Kallmann Syndrome 6

Drugs & Therapeutics for Kallmann Syndrome 6

Search Clinical Trials , NIH Clinical Center for Kallmann Syndrome 6

Genetic Tests for Kallmann Syndrome 6

Genetic tests related to Kallmann Syndrome 6:

# Genetic test Affiliating Genes
1 Kallmann Syndrome 6 29 FGF8

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
(show all 14)
# 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.40C> A (p.His14Asn) single nucleotide variant Pathogenic rs137852659 GRCh38 Chromosome 10, 101775769: 101775769
3 FGF8 NM_033163.3(FGF8): c.118T> C (p.Phe40Leu) single nucleotide variant Pathogenic rs137852661 GRCh37 Chromosome 10, 103534925: 103534925
4 FGF8 NM_033163.3(FGF8): c.118T> C (p.Phe40Leu) single nucleotide variant Pathogenic rs137852661 GRCh38 Chromosome 10, 101775168: 101775168
5 FGF8 NM_033163.3(FGF8): c.298A> G (p.Lys100Glu) single nucleotide variant Pathogenic rs137852662 GRCh37 Chromosome 10, 103534528: 103534528
6 FGF8 NM_033163.3(FGF8): c.298A> G (p.Lys100Glu) single nucleotide variant Pathogenic rs137852662 GRCh38 Chromosome 10, 101774771: 101774771
7 FGF8 NM_033163.3(FGF8): c.379C> G (p.Arg127Gly) single nucleotide variant Pathogenic rs137852663 GRCh37 Chromosome 10, 103531285: 103531285
8 FGF8 NM_033163.3(FGF8): c.379C> G (p.Arg127Gly) single nucleotide variant Pathogenic rs137852663 GRCh38 Chromosome 10, 101771528: 101771528
9 FGF8 NM_033163.3(FGF8): c.451G> A (p.Gly151Ser) single nucleotide variant Likely pathogenic rs606231407 GRCh38 Chromosome 10, 101770613: 101770613
10 FGF8 NM_033163.3(FGF8): c.451G> A (p.Gly151Ser) single nucleotide variant Likely pathogenic rs606231407 GRCh37 Chromosome 10, 103530370: 103530370
11 FGF8 NM_033163.3(FGF8): c.237C> G (p.Leu79=) single nucleotide variant Likely pathogenic rs606231408 GRCh38 Chromosome 10, 101774832: 101774832
12 FGF8 NM_033163.3(FGF8): c.237C> G (p.Leu79=) single nucleotide variant Likely pathogenic rs606231408 GRCh37 Chromosome 10, 103534589: 103534589
13 FGF8 NM_033163.3(FGF8): c.628_629dup (p.His211Alafs) duplication Likely pathogenic GRCh38 Chromosome 10, 101770435: 101770436
14 FGF8 NM_033163.3(FGF8): c.628_629dup (p.His211Alafs) duplication Likely pathogenic GRCh37 Chromosome 10, 103530192: 103530193

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

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