KAL3
MCID: KLL005
MIFTS: 10

Kallmann Syndrome 3 (KAL3)

Categories: Bone diseases, Endocrine diseases, Genetic diseases, Rare diseases, Reproductive diseases, Smell/Taste 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). Affiliated tissues include bone.

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 11.1

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

MalaCards organs/tissues related to Kallmann Syndrome 3:

41
Bone

Publications for Kallmann Syndrome 3

Variations for Kallmann Syndrome 3

ClinVar genetic disease variations for Kallmann Syndrome 3:

6 (show all 22)
# Gene Variation Type Significance SNP ID Assembly Location
1 PROKR2 NM_144773.3(PROKR2): c.518T> G (p.Leu173Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs74315416 GRCh37 Chromosome 20, 5283323: 5283323
2 PROKR2 NM_144773.3(PROKR2): c.518T> G (p.Leu173Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs74315416 GRCh38 Chromosome 20, 5302677: 5302677
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.629A> G (p.Gln210Arg) single nucleotide variant Pathogenic rs74315417 GRCh38 Chromosome 20, 5302566: 5302566
5 PROKR2 NM_144773.3(PROKR2): c.254G> A (p.Arg85His) single nucleotide variant Conflicting interpretations of pathogenicity rs74315418 GRCh37 Chromosome 20, 5294762: 5294762
6 PROKR2 NM_144773.3(PROKR2): c.254G> A (p.Arg85His) single nucleotide variant Conflicting interpretations of pathogenicity rs74315418 GRCh38 Chromosome 20, 5314116: 5314116
7 PROKR2 NM_144773.3(PROKR2): c.58delC (p.His20Metfs) deletion Pathogenic/Likely pathogenic rs587777834 GRCh38 Chromosome 20, 5314312: 5314312
8 PROKR2 NM_144773.3(PROKR2): c.58delC (p.His20Metfs) deletion Pathogenic/Likely pathogenic rs587777834 GRCh37 Chromosome 20, 5294958: 5294958
9 PROKR2 NM_144773.3(PROKR2): c.969G> A (p.Met323Ile) single nucleotide variant Pathogenic rs74315419 GRCh37 Chromosome 20, 5282872: 5282872
10 PROKR2 NM_144773.3(PROKR2): c.969G> A (p.Met323Ile) single nucleotide variant Pathogenic rs74315419 GRCh38 Chromosome 20, 5302226: 5302226
11 PROKR2 NM_144773.3(PROKR2): c.525C> G (p.Ala175=) single nucleotide variant Benign/Likely benign rs3746683 GRCh37 Chromosome 20, 5283316: 5283316
12 PROKR2 NM_144773.3(PROKR2): c.525C> G (p.Ala175=) single nucleotide variant Benign/Likely benign rs3746683 GRCh38 Chromosome 20, 5302670: 5302670
13 PROKR2 NM_144773.3(PROKR2): c.343G> A (p.Val115Met) single nucleotide variant Pathogenic rs138672528 GRCh37 Chromosome 20, 5294673: 5294673
14 PROKR2 NM_144773.3(PROKR2): c.343G> A (p.Val115Met) single nucleotide variant Pathogenic rs138672528 GRCh38 Chromosome 20, 5314027: 5314027
15 PROKR2 NM_144773.3(PROKR2): c.533G> C (p.Trp178Ser) single nucleotide variant Likely pathogenic rs201835496 GRCh37 Chromosome 20, 5283308: 5283308
16 PROKR2 NM_144773.3(PROKR2): c.533G> C (p.Trp178Ser) single nucleotide variant Likely pathogenic rs201835496 GRCh38 Chromosome 20, 5302662: 5302662
17 PROKR2 NM_144773.3(PROKR2): c.97T> C (p.Tyr33His) single nucleotide variant Likely pathogenic rs886037916 GRCh38 Chromosome 20, 5314273: 5314273
18 PROKR2 NM_144773.3(PROKR2): c.97T> C (p.Tyr33His) single nucleotide variant Likely pathogenic rs886037916 GRCh37 Chromosome 20, 5294919: 5294919
19 PROKR2 NM_144773.3(PROKR2): c.585G> C (p.Thr195=) single nucleotide variant Benign rs3746682 GRCh37 Chromosome 20, 5283256: 5283256
20 PROKR2 NM_144773.3(PROKR2): c.585G> C (p.Thr195=) single nucleotide variant Benign rs3746682 GRCh38 Chromosome 20, 5302610: 5302610
21 PROKR2 NM_144773.3(PROKR2): c.465C> T (p.Leu155=) single nucleotide variant Benign rs3746684 GRCh37 Chromosome 20, 5283376: 5283376
22 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
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17 ExPASy
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28 GO
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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