KAL6
MCID: KLL008
MIFTS: 10

Kallmann Syndrome 6 (KAL6)

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

Aliases & Classifications for Kallmann Syndrome 6

MalaCards integrated aliases for Kallmann Syndrome 6:

Name: Kallmann Syndrome 6 54 30 6 74
Kal6 54

Classifications:



External Ids:

UMLS 74 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 kallmann syndrome. 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 11.3
2 kallmann syndrome 9.6 FGF8 LOC105378457
3 semilobar holoprosencephaly 9.5 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 30

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 22)
# 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.77C> T (p.Pro26Leu) single nucleotide variant Uncertain significance rs137852660 GRCh37 Chromosome 10, 103534966: 103534966
4 FGF8 NM_033163.3(FGF8): c.77C> T (p.Pro26Leu) single nucleotide variant Uncertain significance rs137852660 GRCh38 Chromosome 10, 101775209: 101775209
5 FGF8 NM_033163.3(FGF8): c.118T> C (p.Phe40Leu) single nucleotide variant Pathogenic rs137852661 GRCh37 Chromosome 10, 103534925: 103534925
6 FGF8 NM_033163.3(FGF8): c.118T> C (p.Phe40Leu) single nucleotide variant Pathogenic rs137852661 GRCh38 Chromosome 10, 101775168: 101775168
7 FGF8 NM_033163.3(FGF8): c.298A> G (p.Lys100Glu) single nucleotide variant Pathogenic rs137852662 GRCh37 Chromosome 10, 103534528: 103534528
8 FGF8 NM_033163.3(FGF8): c.298A> G (p.Lys100Glu) single nucleotide variant Pathogenic rs137852662 GRCh38 Chromosome 10, 101774771: 101774771
9 FGF8 NM_033163.3(FGF8): c.379C> G (p.Arg127Gly) single nucleotide variant Pathogenic rs137852663 GRCh37 Chromosome 10, 103531285: 103531285
10 FGF8 NM_033163.3(FGF8): c.379C> G (p.Arg127Gly) single nucleotide variant Pathogenic rs137852663 GRCh38 Chromosome 10, 101771528: 101771528
11 FGF8 NM_033163.3(FGF8): c.686C> T (p.Thr229Met) single nucleotide variant Uncertain significance rs137852664 GRCh37 Chromosome 10, 103530135: 103530135
12 FGF8 NM_033163.3(FGF8): c.686C> T (p.Thr229Met) single nucleotide variant Uncertain significance rs137852664 GRCh38 Chromosome 10, 101770378: 101770378
13 FGF8 NM_033163.3(FGF8): c.451G> A (p.Gly151Ser) single nucleotide variant Likely pathogenic rs606231407 GRCh38 Chromosome 10, 101770613: 101770613
14 FGF8 NM_033163.3(FGF8): c.451G> A (p.Gly151Ser) single nucleotide variant Likely pathogenic rs606231407 GRCh37 Chromosome 10, 103530370: 103530370
15 FGF8 NM_033163.3(FGF8): c.237C> G (p.Leu79=) single nucleotide variant Likely pathogenic rs606231408 GRCh38 Chromosome 10, 101774832: 101774832
16 FGF8 NM_033163.3(FGF8): c.237C> G (p.Leu79=) single nucleotide variant Likely pathogenic rs606231408 GRCh37 Chromosome 10, 103534589: 103534589
17 FGF8 NM_033163.3(FGF8): c.385C> T (p.Arg129Ter) single nucleotide variant Pathogenic/Likely pathogenic rs876661330 GRCh37 Chromosome 10, 103531279: 103531279
18 FGF8 NM_033163.3(FGF8): c.385C> T (p.Arg129Ter) single nucleotide variant Pathogenic/Likely pathogenic rs876661330 GRCh38 Chromosome 10, 101771522: 101771522
19 FGF8 NM_033163.3(FGF8): c.628_629dup (p.His211Alafs) duplication Likely pathogenic rs1554834303 GRCh38 Chromosome 10, 101770435: 101770436
20 FGF8 NM_033163.3(FGF8): c.628_629dup (p.His211Alafs) duplication Likely pathogenic rs1554834303 GRCh37 Chromosome 10, 103530192: 103530193
21 FGF8 NM_033163.3(FGF8): c.379C> T (p.Arg127Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 10, 101771528: 101771528
22 FGF8 NM_033163.3(FGF8): c.379C> T (p.Arg127Ter) single nucleotide variant Pathogenic 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

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