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

About this section

Kallmann Syndrome 3, Aliases & Descriptions:

Name: Kallmann Syndrome 3 41 22
Kallmann Syndrome, Type 3, Recessive 60
 
Kal3 41


Classifications:



Summaries for Kallmann Syndrome 3

About this section


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

About this section

Symptoms for Kallmann Syndrome 3

About this section

Drugs & Therapeutics for Kallmann Syndrome 3

About this section

Drug clinical trials:

Search ClinicalTrials for Kallmann Syndrome 3

Search NIH Clinical Center for Kallmann Syndrome 3

Genetic Tests for Kallmann Syndrome 3

About this section

Genetic tests related to Kallmann Syndrome 3:

id Genetic test Affiliating Genes
1 Kallmann Syndrome 322

Anatomical Context for Kallmann Syndrome 3

About this section

Animal Models for Kallmann Syndrome 3 or affiliated genes

About this section

Publications for Kallmann Syndrome 3

About this section

Variations for Kallmann Syndrome 3

About this section

Clinvar genetic disease variations for Kallmann Syndrome 3:

6
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

About this section
Search GEO for disease gene expression data for Kallmann Syndrome 3.

Pathways for genes affiliated with Kallmann Syndrome 3

About this section

Compounds for genes affiliated with Kallmann Syndrome 3

About this section

GO Terms for genes affiliated with Kallmann Syndrome 3

About this section

Products for genes affiliated with Kallmann Syndrome 3

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Kallmann Syndrome 3

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet