KAL2
MCID: KLL004
MIFTS: 14

Kallmann Syndrome 2 (KAL2) malady

Genetic diseases, Rare diseases, Endocrine diseases, Reproductive diseases, Smell/Taste diseases categories
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Summaries for Kallmann Syndrome 2

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MalaCards based summary: Kallmann Syndrome 2, also known as KAL2, is related to kallmann syndrome and kallmann syndrome 1. An important gene associated with Kallmann Syndrome 2 is FGFR1 (fibroblast growth factor receptor 1).

Aliases & Classifications for Kallmann Syndrome 2

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Kallmann Syndrome 2, Aliases & Descriptions:

Name: Kallmann Syndrome 2 42 22 62
 
Kal2 42


Classifications:



Related Diseases for Kallmann Syndrome 2

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Diseases in the Kallmann Syndrome family:

Kallmann Syndrome 1 kallmann syndrome 2
Kallmann Syndrome 3 Kallmann Syndrome 4
Kallmann Syndrome 5 Kallmann Syndrome 6

Diseases related to Kallmann Syndrome 2 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1kallmann syndrome10.1
2kallmann syndrome 110.1

Symptoms for Kallmann Syndrome 2

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Drugs & Therapeutics for Kallmann Syndrome 2

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Drug clinical trials:

Search ClinicalTrials for Kallmann Syndrome 2

Search NIH Clinical Center for Kallmann Syndrome 2

Genetic Tests for Kallmann Syndrome 2

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Genetic tests related to Kallmann Syndrome 2:

id Genetic test Affiliating Genes
1 Kallmann Syndrome 222

Anatomical Context for Kallmann Syndrome 2

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Animal Models for Kallmann Syndrome 2 or affiliated genes

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Publications for Kallmann Syndrome 2

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Variations for Kallmann Syndrome 2

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Clinvar genetic disease variations for Kallmann Syndrome 2:

6
id Gene Name Type Significance SNP ID Assembly Location
1FGFR1NM_023110.2(FGFR1): c.443G> A (p.Arg148His)single nucleotide variantPathogenicrs515726222GRCh37Chr 8, 38285869: 38285869
2FGFR1NM_023110.2(FGFR1): c.790A> C (p.Asn264His)single nucleotide variantPathogenicrs515726223GRCh37Chr 8, 38282173: 38282173
3FGFR1NM_023110.2(FGFR1): c.1460G> A (p.Gly487Asp)single nucleotide variantPathogenicrs515726224GRCh37Chr 8, 38275480: 38275480
4FGFR1NM_023110.2(FGFR1): c.2084C> T (p.Thr695Ile)single nucleotide variantPathogenicrs515726225GRCh37Chr 8, 38271772: 38271772
5FGFR1NM_023110.2(FGFR1): c.2038C> T (p.Gln680Ter)single nucleotide variantPathogenicrs121909636GRCh37Chr 8, 38272087: 38272087
6FGFR1NM_023110.2(FGFR1): c.142G> A (p.Gly48Ser)single nucleotide variantPathogenicrs121909640GRCh37Chr 8, 38287416: 38287416
7FGFR1NM_023110.2(FGFR1): c.2292G> T (p.Gln764His)single nucleotide variantPathogenicrs121909643GRCh37Chr 8, 38271436: 38271436

Expression for genes affiliated with Kallmann Syndrome 2

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Expression patterns in normal tissues for genes affiliated with Kallmann Syndrome 2

Search GEO for disease gene expression data for Kallmann Syndrome 2.

Pathways for genes affiliated with Kallmann Syndrome 2

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Compounds for genes affiliated with Kallmann Syndrome 2

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GO Terms for genes affiliated with Kallmann Syndrome 2

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Products for genes affiliated with Kallmann Syndrome 2

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  • Antibodies
  • Proteins
  • Lysates

Sources for Kallmann Syndrome 2

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet