MCID: KLL005
MIFTS: 8

Kallmann Syndrome 3

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

Aliases & Classifications for Kallmann Syndrome 3

MalaCards integrated aliases for Kallmann Syndrome 3:

Name: Kallmann Syndrome 3 53 29 6
Kallmann Syndrome, Type 3, Recessive 73
Kal3 53

Classifications:



External Ids:

UMLS 73 C2930927

Summaries for Kallmann Syndrome 3

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 29 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
(show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 PROKR2 NM_144773.3(PROKR2): c.629A> G (p.Gln210Arg) single nucleotide variant Pathogenic rs74315417 GRCh37 Chromosome 20, 5283212: 5283212
2 PROKR2 NM_144773.3(PROKR2): c.629A> G (p.Gln210Arg) single nucleotide variant Pathogenic rs74315417 GRCh38 Chromosome 20, 5302566: 5302566
3 PROKR2 NM_144773.3(PROKR2): c.58delC (p.His20Metfs) deletion Pathogenic/Likely pathogenic rs587777834 GRCh38 Chromosome 20, 5314312: 5314312
4 PROKR2 NM_144773.3(PROKR2): c.58delC (p.His20Metfs) deletion Pathogenic/Likely pathogenic rs587777834 GRCh37 Chromosome 20, 5294958: 5294958
5 PROKR2 NM_144773.3(PROKR2): c.969G> A (p.Met323Ile) single nucleotide variant Pathogenic rs74315419 GRCh37 Chromosome 20, 5282872: 5282872
6 PROKR2 NM_144773.3(PROKR2): c.969G> A (p.Met323Ile) single nucleotide variant Pathogenic rs74315419 GRCh38 Chromosome 20, 5302226: 5302226
7 PROKR2 NM_144773.3(PROKR2): c.343G> A (p.Val115Met) single nucleotide variant Pathogenic rs138672528 GRCh37 Chromosome 20, 5294673: 5294673
8 PROKR2 NM_144773.3(PROKR2): c.343G> A (p.Val115Met) single nucleotide variant Pathogenic rs138672528 GRCh38 Chromosome 20, 5314027: 5314027
9 PROKR2 NM_144773.3(PROKR2): c.533G> C (p.Trp178Ser) single nucleotide variant Likely pathogenic rs201835496 GRCh37 Chromosome 20, 5283308: 5283308
10 PROKR2 NM_144773.3(PROKR2): c.533G> C (p.Trp178Ser) single nucleotide variant Likely pathogenic rs201835496 GRCh38 Chromosome 20, 5302662: 5302662
11 PROKR2 NM_144773.3(PROKR2): c.97T> C (p.Tyr33His) single nucleotide variant Likely pathogenic rs886037916 GRCh38 Chromosome 20, 5314273: 5314273
12 PROKR2 NM_144773.3(PROKR2): c.97T> C (p.Tyr33His) single nucleotide variant Likely pathogenic rs886037916 GRCh37 Chromosome 20, 5294919: 5294919
13 PROKR2 NM_144773.3(PROKR2): c.585G> C (p.Thr195=) single nucleotide variant Benign rs3746682 GRCh37 Chromosome 20, 5283256: 5283256
14 PROKR2 NM_144773.3(PROKR2): c.585G> C (p.Thr195=) single nucleotide variant Benign rs3746682 GRCh38 Chromosome 20, 5302610: 5302610
15 PROKR2 NM_144773.3(PROKR2): c.465C> T (p.Leu155=) single nucleotide variant Benign rs3746684 GRCh37 Chromosome 20, 5283376: 5283376
16 PROKR2 NM_144773.3(PROKR2): c.465C> T (p.Leu155=) single nucleotide variant Benign rs3746684 GRCh38 Chromosome 20, 5302730: 5302730

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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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