KAL3
MCID: KLL005
MIFTS: 17

Kallmann Syndrome 3 (KAL3) malady

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

Aliases & Classifications for Kallmann Syndrome 3

Aliases & Descriptions for Kallmann Syndrome 3:

Name: Kallmann Syndrome 3 50 29
Kallmann Syndrome, Type 3, Recessive 69
Kal3 50

Classifications:



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 and prokr2-related isolated gonadotropin-releasing hormone deficiency. An important gene associated with Kallmann Syndrome 3 is PROKR2 (Prokineticin Receptor 2). The drugs Zinc and Chorionic Gonadotropin have been mentioned in the context of this disorder.

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:

id Related Disease Score Top Affiliating Genes
1 hypogonadotropic hypogonadism 3 with or without anosmia 10.8
2 prokr2-related isolated gonadotropin-releasing hormone deficiency 10.8

Symptoms & Phenotypes for Kallmann Syndrome 3

Drugs & Therapeutics for Kallmann Syndrome 3

Drugs for Kallmann Syndrome 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 38)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zinc Approved Phase 4 7440-66-6 32051 23994
2 Chorionic Gonadotropin Phase 4
3 Follicle Stimulating Hormone Phase 4
4 Hormone Antagonists Phase 4,Phase 1
5 Hormones Phase 4,Phase 1
6 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 1
7
Methyltestosterone Approved Phase 1 58-18-4 6010
8
Testosterone Approved, Investigational Phase 1 58-22-0 6013
9
Anastrozole Approved, Investigational Phase 1 120511-73-1 2187
10 Anabolic Agents Phase 1
11 Androgens Phase 1
12 Antineoplastic Agents, Hormonal Phase 1
13 Hypoglycemic Agents Phase 1
14 insulin Phase 1
15 Insulin, Globin Zinc Phase 1
16 Steroid Synthesis Inhibitors Phase 1
17 Testosterone 17 beta-cypionate Phase 1
18
Testosterone enanthate Phase 1 315-37-7 9416
19 Testosterone undecanoate Phase 1
20 Estrogens Phase 1
21 Aromatase Inhibitors Phase 1
22 Estrogen Antagonists Phase 1
23
Ketoconazole Approved, Investigational 65277-42-1 47576 3823
24
Miconazole Approved, Investigational, Vet_approved 22916-47-8 4189
25
Estradiol Approved, Investigational, Vet_approved 50-28-2 5757 53477783
26
Estrone Approved 53-16-7 5870
27 Antifungal Agents
28 Anti-Infective Agents
29 Cytochrome P-450 CYP3A Inhibitors
30 Cytochrome P-450 Enzyme Inhibitors
31 Contraceptive Agents
32 Drospirenone and ethinyl estradiol combination
33 Estradiol 17 beta-cypionate
34 Estradiol 3-benzoate
35 Estradiol valerate 979-32-8
36 Estropipate 7280-37-7
37 Polyestradiol phosphate
38 Trisequens

Interventional clinical trials:


id Name Status NCT ID Phase
1 Sequential Therapy for Hypogonadotropic Hypogonadism Completed NCT01403532 Phase 4
2 Effect of Varying Testosterone Levels on Insulin Sensitivity in Men With Idiopathic Hypogonadotropic Hypogonadism (IHH) Terminated NCT03118479 Phase 1
3 Effect of Varying Testosterone Levels on Insulin Sensitivity in Normal and IHH Men Completed NCT00470990
4 Investigating the Regulation of Reproductive Hormones in Adult Men Completed NCT00392457
5 Investigation of the Genetic Causes of Kallmann Syndrome and Reproductive Disorders Recruiting NCT00494169
6 Baselines in Reproductive Disorders Recruiting NCT00456274
7 Psychological Outcomes in Isolated GnRH Deficiency Recruiting NCT02356172
8 A Study to Characterize Epidemiology, Clinical and Genetic Features of Kallmann Syndrome in Finland Enrolling by invitation NCT00623116

Search NIH Clinical Center for Kallmann Syndrome 3

Genetic Tests for Kallmann Syndrome 3

Genetic tests related to Kallmann Syndrome 3:

id Genetic test Affiliating Genes
1 Kallmann Syndrome 3 29

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
id 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.58delC (p.His20Metfs) deletion Pathogenic rs587777834 GRCh38 Chromosome 20, 5314312: 5314312
3 PROKR2 NM_144773.3(PROKR2): c.969G> A (p.Met323Ile) single nucleotide variant Pathogenic rs74315419 GRCh37 Chromosome 20, 5282872: 5282872
4 PROKR2 NM_144773.3(PROKR2): c.343G> A (p.Val115Met) single nucleotide variant Pathogenic rs138672528 GRCh37 Chromosome 20, 5294673: 5294673
5 PROKR2 NM_144773.3(PROKR2): c.533G> C (p.Trp178Ser) single nucleotide variant Pathogenic rs201835496 GRCh37 Chromosome 20, 5283308: 5283308

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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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