MCID: KLL008
MIFTS: 13

Kallmann Syndrome 6 malady

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

Aliases & Classifications for Kallmann Syndrome 6

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Aliases & Descriptions for Kallmann Syndrome 6:

Name: Kallmann Syndrome 6 46 25 66
 
Kal6 46

Classifications:



Summaries for Kallmann Syndrome 6

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

Related Diseases for Kallmann Syndrome 6

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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
1fgf8-related isolated gonadotropin-releasing hormone deficiency11.1
2hypogonadotropic hypogonadism 6 with or without anosmia11.0

Symptoms for Kallmann Syndrome 6

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Drugs & Therapeutics for Kallmann Syndrome 6

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Drugs for Kallmann Syndrome 6 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
LetrozolePhase 2, Phase 3368112809-51-53902
Synonyms:
1-[Bis-(4-cyanophenyl)methyl]-1,2,4-triazole
1-[bis(4-cyanophenyl)methyl]-1,2,4-triazole
112809-51-5
4,4'-((1h-1,2,4-triazol-1-yl)methylene)dibenzonitrile
4,4'-(1H-1,2,4-Triazol-1-ylmethylene)dibenzonitrile
4,4'-(1H-1,2,4-triazol-1-yl-methylene)-bis(benzonitrile)
4,4'-(1H-1,2,4-triazol-1-ylmethanediyl)dibenzonitrile
4,4'-(1H-1,2,4-triazol-1-ylmethylene)bis-Benzonitrile Letrozole
4,4'-(1h-1,2,4-triazol-1-ylmethylene) bis-benzonitrile
4,4'-(1h-1,2,4-triazol-1-ylmethylene)bis-benzonitrile
4,4'-(1h-1,2,4-triazol-1-ylmethylene)bisbenzonitrile
4-[(4-cyanophenyl)-(1,2,4-triazol-1-yl)methyl]benzonitrile
AB00514009
AC-1193
AC1L1GYT
AKOS005145822
BIDD:GT0015
BIDD:PXR0130
BPBio1_001331
BRD-K88789588-001-03-2
BSPBio_001209
Bio-0057
C067431
C08163
C17H11N5
CAS-112809-51-5
CCRIS 8822
CGS 20267
CGS 20267, Femara, Piroxicam, Letrozole
CGS-20267
CHEBI:6413
CHEMBL1444
CID3902
CPD000466343
D00964
 
DB01006
FEM-345
Femara
Femara (TN)
Femera
HMS1571M11
HMS2051E08
HMS2089L22
HSDB 7461
I06-0022
LS-38788
Letoval
Letrozol
Letrozole
Letrozole (JAN/USP/INN)
Letrozole [USAN:INN]
MLS000759455
MLS001424038
MLS002584991
MolPort-003-848-373
NCGC00016973-01
NCGC00016973-02
NSC719345
Novartis Brand of Letrozole
Prestwick0_001025
Prestwick1_001025
Prestwick2_001025
Prestwick3_001025
S1235_Selleck
SAM001246649
SMR000466343
SPBio_003070
TL8000371
UNII-7LKK855W8I
ZINC03778874
letrozole
2phenylalanineNutraceuticalPhase 2, Phase 3155

Interventional clinical trials:

idNameStatusNCT IDPhase
1Letrozole Treatment in Normal and GnRH Deficient WomenActive, not recruitingNCT00351416Phase 2, Phase 3
2Kisspeptin in the Evaluation of Delayed PubertyRecruitingNCT01438034Phase 1
3Health Needs of Patients With Kallmann SyndromeActive, not recruitingNCT01914172

Search NIH Clinical Center for Kallmann Syndrome 6

Genetic Tests for Kallmann Syndrome 6

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Genetic tests related to Kallmann Syndrome 6:

id Genetic test Affiliating Genes
1 Kallmann Syndrome 625

Anatomical Context for Kallmann Syndrome 6

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Animal Models for Kallmann Syndrome 6 or affiliated genes

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Publications for Kallmann Syndrome 6

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Variations for Kallmann Syndrome 6

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Clinvar genetic disease variations for Kallmann Syndrome 6:

5
id Gene Variation Type Significance SNP ID Assembly Location
1FGF8NM_033163.3(FGF8): c.77C> T (p.Pro26Leu)single nucleotide variantPathogenicrs137852660GRCh37Chr 10, 103534966: 103534966

Expression for genes affiliated with Kallmann Syndrome 6

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

Pathways for genes affiliated with Kallmann Syndrome 6

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GO Terms for genes affiliated with Kallmann Syndrome 6

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Sources for Kallmann Syndrome 6

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet