KAL3
MCID: KLL005
MIFTS: 13

Kallmann Syndrome 3 (KAL3) malady

Genetic diseases, Rare diseases, Endocrine diseases, Reproductive diseases, Smell/Taste diseases categories
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Summaries for Kallmann Syndrome 3

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33MalaCards
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MalaCards: Kallmann Syndrome 3, also known as kallmann syndrome, is related to kallmann syndrome. An important gene associated with Kallmann Syndrome 3 is PROKR2 (prokineticin receptor 2).

Aliases & Classifications for Kallmann Syndrome 3

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Sources:
62UMLS, 43NIH Rare Diseases, 22GTR
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Classifications:



Aliases & Descriptions:

kallmann syndrome 3 43 22
kallmann syndrome 62
kal3 43


Related Diseases for Kallmann Syndrome 3

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Sources:
17GeneCards, 18GeneDecks
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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 3 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1kallmann syndrome10.1

Symptoms for Kallmann Syndrome 3

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Drugs & Therapeutics for Kallmann Syndrome 3

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Kallmann Syndrome 3

Search NIH Clinical Center for Kallmann Syndrome 3

Genetic Tests for Kallmann Syndrome 3

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Sources:
22GTR
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Genetic tests related to Kallmann Syndrome 3:

id Genetic test Affiliating Genes
1 Kallmann Syndrome 322

Anatomical Context for Kallmann Syndrome 3

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Animal Models for Kallmann Syndrome 3 or affiliated genes

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Publications for Kallmann Syndrome 3

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Variations for Kallmann Syndrome 3

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Sources:
1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Kallmann Syndrome 3:

1
id Gene Name Type Significance SNP ID Assembly Location
1PROKR2NM_144773.2(PROKR2): c.518T> G (p.Leu173Arg)single nucleotide variantPathogenicrs74315416GRCh37Chr 20, 5283323: 5283323
2PROKR2NM_144773.2(PROKR2): c.629A> G (p.Gln210Arg)single nucleotide variantPathogenicrs74315417GRCh37Chr 20, 5283212: 5283212
3PROKR2NM_144773.2(PROKR2): c.254G> A (p.Arg85His)single nucleotide variantPathogenicrs74315418GRCh37Chr 20, 5294762: 5294762
4PROKR2NM_144773.2(PROKR2): c.969G> A (p.Met323Ile)single nucleotide variantPathogenicrs74315419GRCh37Chr 20, 5282872: 5282872

Expression for genes affiliated with Kallmann Syndrome 3

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Kallmann Syndrome 3

Search GEO for disease gene expression data for Kallmann Syndrome 3.

Pathways for genes affiliated with Kallmann Syndrome 3

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Compounds for genes affiliated with Kallmann Syndrome 3

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GO Terms for genes affiliated with Kallmann Syndrome 3

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Products for genes affiliated with Kallmann Syndrome 3

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Kallmann Syndrome 3

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet