MCID: KLL006
MIFTS: 9

Kallmann Syndrome 4

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

Aliases & Classifications for Kallmann Syndrome 4

MalaCards integrated aliases for Kallmann Syndrome 4:

Name: Kallmann Syndrome 4 53 29 6 73
Kal4 53

Classifications:



External Ids:

UMLS 73 C1857720

Summaries for Kallmann Syndrome 4

MalaCards based summary : Kallmann Syndrome 4, also known as kal4, is related to hypogonadotropic hypogonadism 4 with or without anosmia and kallmann syndrome. An important gene associated with Kallmann Syndrome 4 is PROK2 (Prokineticin 2).

Related Diseases for Kallmann Syndrome 4

Diseases in the Kallmann Syndrome family:

Kallmann Syndrome 3 Kallmann Syndrome 4
Kallmann Syndrome 5 Kallmann Syndrome 6

Diseases related to Kallmann Syndrome 4 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypogonadotropic hypogonadism 4 with or without anosmia 11.1
2 kallmann syndrome 9.0 LOC105377156 PROK2

Symptoms & Phenotypes for Kallmann Syndrome 4

Drugs & Therapeutics for Kallmann Syndrome 4

Search Clinical Trials , NIH Clinical Center for Kallmann Syndrome 4

Genetic Tests for Kallmann Syndrome 4

Genetic tests related to Kallmann Syndrome 4:

# Genetic test Affiliating Genes
1 Kallmann Syndrome 4 29 PROK2

Anatomical Context for Kallmann Syndrome 4

Publications for Kallmann Syndrome 4

Variations for Kallmann Syndrome 4

ClinVar genetic disease variations for Kallmann Syndrome 4:

6
(show all 11)
# Gene Variation Type Significance SNP ID Assembly Location
1 PROK2 NM_001126128.1(PROK2): c.94G> C (p.Gly32Arg) single nucleotide variant Pathogenic rs104893767 GRCh37 Chromosome 3, 71834110: 71834110
2 PROK2 NM_001126128.1(PROK2): c.94G> C (p.Gly32Arg) single nucleotide variant Pathogenic rs104893767 GRCh38 Chromosome 3, 71784959: 71784959
3 PROK2 PROK2, 1-BP INS, 234T insertion Pathogenic
4 PROK2 NM_001126128.1(PROK2): c.163delA (p.Ile55Terfs) deletion Pathogenic rs554675432 GRCh38 Chromosome 3, 71781526: 71781526
5 PROK2 NM_001126128.1(PROK2): c.163delA (p.Ile55Terfs) deletion Pathogenic rs554675432 GRCh37 Chromosome 3, 71830677: 71830677
6 PROK2 NM_021935.3(PROK2): c.217C> T (p.Arg73Cys) single nucleotide variant Pathogenic rs121434272 GRCh37 Chromosome 3, 71830623: 71830623
7 PROK2 NM_021935.3(PROK2): c.217C> T (p.Arg73Cys) single nucleotide variant Pathogenic rs121434272 GRCh38 Chromosome 3, 71781472: 71781472
8 PROK2 NM_001126128.1(PROK2): c.70G> C (p.Ala24Pro) single nucleotide variant Pathogenic rs587777863 GRCh38 Chromosome 3, 71784983: 71784983
9 PROK2 NM_001126128.1(PROK2): c.70G> C (p.Ala24Pro) single nucleotide variant Pathogenic rs587777863 GRCh37 Chromosome 3, 71834134: 71834134
10 PROK2 NM_001126128.1(PROK2): c.101G> A (p.Cys34Tyr) single nucleotide variant Pathogenic rs587777864 GRCh38 Chromosome 3, 71781588: 71781588
11 PROK2 NM_001126128.1(PROK2): c.101G> A (p.Cys34Tyr) single nucleotide variant Pathogenic rs587777864 GRCh37 Chromosome 3, 71830739: 71830739

Expression for Kallmann Syndrome 4

Search GEO for disease gene expression data for Kallmann Syndrome 4.

Pathways for Kallmann Syndrome 4

GO Terms for Kallmann Syndrome 4

Sources for Kallmann Syndrome 4

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
Content
Loading form....