KAL3
MCID: KLL005
MIFTS: 13

Kallmann Syndrome 3 (KAL3) malady

Genetic diseases, Rare diseases, Endocrine diseases, Reproductive diseases, Smell/Taste diseases categories

Summaries for Kallmann Syndrome 3

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Sources:
34MalaCards
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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:
63UMLS, 44NIH Rare Diseases, 23GTR
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Classifications:



Aliases & Descriptions:

kallmann syndrome 3 44 23
kallmann syndrome 63
kal3 44


Related Diseases for Kallmann Syndrome 3

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Sources:
18GeneCards, 19GeneDecks
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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:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Kallmann Syndrome 3

Drug clinical trials:

Search ClinicalTrials for Kallmann Syndrome 3

Search NIH Clinical Center for Kallmann Syndrome 3

Search CenterWatch for Kallmann Syndrome 3

Genetic Tests for Kallmann Syndrome 3

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Sources:
23GTR
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Genetic tests related to Kallmann Syndrome 3:

id Genetic test Affiliating Genes
1 Kallmann Syndrome 323

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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Sources:
2BioGPS, 16Gene 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet