MCID: KLL005
MIFTS: 10

Kallmann Syndrome 3 malady

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

Aliases & Classifications for Kallmann Syndrome 3

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Aliases & Descriptions for Kallmann Syndrome 3:

Name: Kallmann Syndrome 3 42 22
Kallmann Syndrome, Type 3, Recessive 61
 
Kal3 42


Classifications:



Summaries for Kallmann Syndrome 3

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MalaCards based summary: Kallmann Syndrome 3, is also known as kallmann syndrome, type 3, recessive An important gene associated with Kallmann Syndrome 3 is PROKR2 (prokineticin receptor 2).

Related Diseases for Kallmann Syndrome 3

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Symptoms for Kallmann Syndrome 3

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Drugs & Therapeutics for Kallmann Syndrome 3

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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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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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Clinvar genetic disease variations for Kallmann Syndrome 3:

5
id Gene Variation 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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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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Sources for Kallmann Syndrome 3

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet