MCID: KLL005
MIFTS: 9

Kallmann Syndrome 3

Categories: Rare diseases, Endocrine diseases, Reproductive diseases, Smell/Taste diseases, Genetic diseases

Aliases & Classifications for Kallmann Syndrome 3

MalaCards integrated aliases for Kallmann Syndrome 3:

Name: Kallmann Syndrome 3 49 28
Kallmann Syndrome, Type 3, Recessive 69
Kal3 49

Classifications:



External Ids:

UMLS 69 C2930927

Summaries for Kallmann Syndrome 3

NIH Rare Diseases : 49 This condition doesn't have a summary yet. Please see our page(s) on Kallmann syndrome.

MalaCards based summary : Kallmann Syndrome 3, also known as kallmann syndrome, type 3, recessive, is related to hypogonadotropic hypogonadism 3 with or without anosmia. An important gene associated with Kallmann Syndrome 3 is PROKR2 (Prokineticin Receptor 2).

Related Diseases for Kallmann Syndrome 3

Diseases in the Kallmann Syndrome family:

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 Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypogonadotropic hypogonadism 3 with or without anosmia 11.0

Symptoms & Phenotypes for Kallmann Syndrome 3

Drugs & Therapeutics for Kallmann Syndrome 3

Search Clinical Trials , NIH Clinical Center for Kallmann Syndrome 3

Genetic Tests for Kallmann Syndrome 3

Genetic tests related to Kallmann Syndrome 3:

# Genetic test Affiliating Genes
1 Kallmann Syndrome 3 28 PROKR2

Anatomical Context for Kallmann Syndrome 3

Publications for Kallmann Syndrome 3

Variations for Kallmann Syndrome 3

ClinVar genetic disease variations for Kallmann Syndrome 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PROKR2 NM_144773.3(PROKR2): c.343G> A (p.Val115Met) single nucleotide variant Pathogenic rs138672528 GRCh37 Chromosome 20, 5294673: 5294673
2 PROKR2 NM_144773.3(PROKR2): c.533G> C (p.Trp178Ser) single nucleotide variant Pathogenic/Likely pathogenic rs201835496 GRCh37 Chromosome 20, 5283308: 5283308
3 PROKR2 NM_144773.3(PROKR2): c.629A> G (p.Gln210Arg) single nucleotide variant Pathogenic rs74315417 GRCh37 Chromosome 20, 5283212: 5283212
4 PROKR2 NM_144773.3(PROKR2): c.58delC (p.His20Metfs) deletion Pathogenic rs587777834 GRCh38 Chromosome 20, 5314312: 5314312
5 PROKR2 NM_144773.3(PROKR2): c.969G> A (p.Met323Ile) single nucleotide variant Pathogenic rs74315419 GRCh37 Chromosome 20, 5282872: 5282872

Expression for Kallmann Syndrome 3

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

Pathways for Kallmann Syndrome 3

GO Terms for Kallmann Syndrome 3

Sources for Kallmann Syndrome 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....