KAL3
MCID: KLL005
MIFTS: 14

Kallmann Syndrome 3 (KAL3)

Categories: Endocrine diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Kallmann Syndrome 3

MalaCards integrated aliases for Kallmann Syndrome 3:

Name: Kallmann Syndrome 3 20 29 6
Kallmann Syndrome, Type 3, Recessive 70
Kal3 20

Classifications:



External Ids:

UMLS 70 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 11.1

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

Publications for Kallmann Syndrome 3

Articles related to Kallmann Syndrome 3:

# Title Authors PMID Year
1
PROKR2 missense mutations associated with Kallmann syndrome impair receptor signalling activity. 6
18826963 2009
2
Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum. 6
18559922 2008
3
Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2. 6
17054399 2006
4
Breast Cancer and Major Deviations of Genetic and Gender-related Structures and Function. 61
32594127 2020
5
[Clinical diagnosis and treatment of male Kallmann syndrome]. 61
24432625 2013

Variations for Kallmann Syndrome 3

ClinVar genetic disease variations for Kallmann Syndrome 3:

6 (show all 46)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PROKR2 NM_144773.3(PROKR2):c.629A>G (p.Gln210Arg) SNV Pathogenic 3450 rs74315417 GRCh37: 20:5283212-5283212
GRCh38: 20:5302566-5302566
2 PROKR2 NM_144773.3(PROKR2):c.969G>A (p.Met323Ile) SNV Pathogenic 3453 rs74315419 GRCh37: 20:5282872-5282872
GRCh38: 20:5302226-5302226
3 PROKR2 NM_144773.3(PROKR2):c.343G>A (p.Val115Met) SNV Pathogenic 156563 rs138672528 GRCh37: 20:5294673-5294673
GRCh38: 20:5314027-5314027
4 PROKR2 NM_144773.3(PROKR2):c.533G>C (p.Trp178Ser) SNV Likely pathogenic 156564 rs201835496 GRCh37: 20:5283308-5283308
GRCh38: 20:5302662-5302662
5 PROKR2 NM_144773.3(PROKR2):c.97T>C (p.Tyr33His) SNV Likely pathogenic 267202 rs886037916 GRCh37: 20:5294919-5294919
GRCh38: 20:5314273-5314273
6 PROKR2 NM_144773.3(PROKR2):c.685G>C (p.Gly229Arg) SNV Likely pathogenic 816917 rs1600577387 GRCh37: 20:5283156-5283156
GRCh38: 20:5302510-5302510
7 PROKR2 NM_144773.3(PROKR2):c.889G>A (p.Val297Ile) SNV Conflicting interpretations of pathogenicity 803597 rs139399061 GRCh37: 20:5282952-5282952
GRCh38: 20:5302306-5302306
8 PROKR2 NM_144773.3(PROKR2):c.518T>G (p.Leu173Arg) SNV Conflicting interpretations of pathogenicity 3449 rs74315416 GRCh37: 20:5283323-5283323
GRCh38: 20:5302677-5302677
9 PROKR2 NM_144773.3(PROKR2):c.254G>A (p.Arg85His) SNV Uncertain significance 3451 rs74315418 GRCh37: 20:5294762-5294762
GRCh38: 20:5314116-5314116
10 PROKR2 NM_144773.3(PROKR2):c.58del (p.His20fs) Deletion Uncertain significance 3452 rs587777834 GRCh37: 20:5294958-5294958
GRCh38: 20:5314312-5314312
11 PROKR2 NM_144773.3(PROKR2):c.889G>T (p.Val297Phe) SNV Uncertain significance 638189 rs139399061 GRCh37: 20:5282952-5282952
GRCh38: 20:5302306-5302306
12 PROKR2 NM_144773.3(PROKR2):c.1111G>A (p.Gly371Arg) SNV Uncertain significance 895677 GRCh37: 20:5282730-5282730
GRCh38: 20:5302084-5302084
13 PROKR2 NM_144773.3(PROKR2):c.1052A>C (p.His351Pro) SNV Uncertain significance 895678 GRCh37: 20:5282789-5282789
GRCh38: 20:5302143-5302143
14 PROKR2 NM_144773.3(PROKR2):c.208G>A (p.Gly70Ser) SNV Uncertain significance 895747 GRCh37: 20:5294808-5294808
GRCh38: 20:5314162-5314162
15 PROKR2 NM_144773.3(PROKR2):c.868C>T (p.Pro290Ser) SNV Uncertain significance 897086 GRCh37: 20:5282973-5282973
GRCh38: 20:5302327-5302327
16 PROKR2 NM_144773.3(PROKR2):c.725G>A (p.Cys242Tyr) SNV Uncertain significance 897563 GRCh37: 20:5283116-5283116
GRCh38: 20:5302470-5302470
17 PROKR2 NM_144773.3(PROKR2):c.797G>T (p.Arg266Leu) SNV Uncertain significance 897562 GRCh37: 20:5283044-5283044
GRCh38: 20:5302398-5302398
18 PROKR2 NM_144773.3(PROKR2):c.328G>A (p.Glu110Lys) SNV Uncertain significance 898721 GRCh37: 20:5294688-5294688
GRCh38: 20:5314042-5314042
19 PROKR2 NM_144773.3(PROKR2):c.273C>T (p.Leu91=) SNV Uncertain significance 898722 GRCh37: 20:5294743-5294743
GRCh38: 20:5314097-5314097
20 PROKR2 NM_144773.3(PROKR2):c.403C>T (p.Arg135Cys) SNV Uncertain significance 818210 rs149396342 GRCh37: 20:5294613-5294613
GRCh38: 20:5313967-5313967
21 PROKR2 NM_144773.3(PROKR2):c.728A>G (p.Tyr243Cys) SNV Uncertain significance 818211 rs921084722 GRCh37: 20:5283113-5283113
GRCh38: 20:5302467-5302467
22 PROKR2 NM_144773.3(PROKR2):c.930C>G (p.His310Gln) SNV Uncertain significance 338856 rs775755881 GRCh37: 20:5282911-5282911
GRCh38: 20:5302265-5302265
23 PROKR2 NM_144773.3(PROKR2):c.819G>A (p.Thr273=) SNV Uncertain significance 338857 rs755527948 GRCh37: 20:5283022-5283022
GRCh38: 20:5302376-5302376
24 PROKR2 NM_144773.3(PROKR2):c.955G>A (p.Glu319Lys) SNV Uncertain significance 338855 rs754796297 GRCh37: 20:5282886-5282886
GRCh38: 20:5302240-5302240
25 PROKR2 NM_144773.3(PROKR2):c.376G>A (p.Val126Met) SNV Uncertain significance 338861 rs200048973 GRCh37: 20:5294640-5294640
GRCh38: 20:5313994-5313994
26 PROKR2 NM_144773.3(PROKR2):c.390C>T (p.Ser130=) SNV Likely benign 338860 rs144778137 GRCh37: 20:5294626-5294626
GRCh38: 20:5313980-5313980
27 PROKR2 NM_144773.3(PROKR2):c.337T>C (p.Tyr113His) SNV Likely benign 338862 rs202203360 GRCh37: 20:5294679-5294679
GRCh38: 20:5314033-5314033
28 PROKR2 NM_144773.3(PROKR2):c.1111G>C (p.Gly371Arg) SNV Likely benign 895676 GRCh37: 20:5282730-5282730
GRCh38: 20:5302084-5302084
29 PROKR2 NM_144773.3(PROKR2):c.254G>T (p.Arg85Leu) SNV Likely benign 338863 rs74315418 GRCh37: 20:5294762-5294762
GRCh38: 20:5314116-5314116
30 PROKR2 NM_144773.3(PROKR2):c.538G>A (p.Val180Met) SNV Likely benign 897564 GRCh37: 20:5283303-5283303
GRCh38: 20:5302657-5302657
31 PROKR2 NM_144773.3(PROKR2):c.506C>T (p.Thr169Met) SNV Likely benign 898720 GRCh37: 20:5283335-5283335
GRCh38: 20:5302689-5302689
32 PROKR2 NM_144773.3(PROKR2):c.809G>A (p.Arg270His) SNV Likely benign 897087 GRCh37: 20:5283032-5283032
GRCh38: 20:5302386-5302386
33 PROKR2 NM_144773.3(PROKR2):c.169G>T (p.Gly57Cys) SNV Likely benign 895748 GRCh37: 20:5294847-5294847
GRCh38: 20:5314201-5314201
34 PROKR2 NM_144773.3(PROKR2):c.261C>T (p.Leu87=) SNV Likely benign 895746 GRCh37: 20:5294755-5294755
GRCh38: 20:5314109-5314109
35 PROKR2 NM_144773.3(PROKR2):c.802C>T (p.Arg268Cys) SNV Likely benign 282345 rs78861628 GRCh37: 20:5283039-5283039
GRCh38: 20:5302393-5302393
36 PROKR2 NM_144773.3(PROKR2):c.253C>G (p.Arg85Gly) SNV Likely benign 338864 rs141090506 GRCh37: 20:5294763-5294763
GRCh38: 20:5314117-5314117
37 PROKR2 NM_144773.3(PROKR2):c.991G>A (p.Val331Met) SNV Benign/Likely benign 338854 rs117106081 GRCh37: 20:5282850-5282850
GRCh38: 20:5302204-5302204
38 PROKR2 NM_144773.3(PROKR2):c.525C>G (p.Ala175=) SNV Benign 138812 rs3746683 GRCh37: 20:5283316-5283316
GRCh38: 20:5302670-5302670
39 PROKR2 NM_144773.3(PROKR2):c.1122C>A (p.Thr374=) SNV Benign 338851 rs76469093 GRCh37: 20:5282719-5282719
GRCh38: 20:5302073-5302073
40 PROKR2 NM_144773.3(PROKR2):c.1110C>T (p.Asn370=) SNV Benign 338852 rs76049287 GRCh37: 20:5282731-5282731
GRCh38: 20:5302085-5302085
41 PROKR2 NM_144773.3(PROKR2):c.375C>T (p.His125=) SNV Benign 695243 rs148596437 GRCh37: 20:5294641-5294641
GRCh38: 20:5313995-5313995
42 PROKR2 NM_144773.3(PROKR2):c.743G>A (p.Arg248Gln) SNV Benign 156565 rs376142095 GRCh37: 20:5283098-5283098
GRCh38: 20:5302452-5302452
43 PROKR2 NM_144773.3(PROKR2):c.151G>A (p.Ala51Thr) SNV Benign 338865 rs144994507 GRCh37: 20:5294865-5294865
GRCh38: 20:5314219-5314219
44 PROKR2 NM_144773.3(PROKR2):c.585G>C (p.Thr195=) SNV Benign 338858 rs3746682 GRCh37: 20:5283256-5283256
GRCh38: 20:5302610-5302610
45 PROKR2 NM_144773.3(PROKR2):c.465C>T (p.Leu155=) SNV Benign 338859 rs3746684 GRCh37: 20:5283376-5283376
GRCh38: 20:5302730-5302730
46 PROKR2 NM_144773.3(PROKR2):c.1005G>A (p.Thr335=) SNV Benign 338853 rs150381386 GRCh37: 20:5282836-5282836
GRCh38: 20:5302190-5302190

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 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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