MCID: KLL007
MIFTS: 8

Kallmann Syndrome 5

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

Aliases & Classifications for Kallmann Syndrome 5

MalaCards integrated aliases for Kallmann Syndrome 5:

Name: Kallmann Syndrome 5 53 29 6 73
Kal5 53

Classifications:



External Ids:

UMLS 73 C2675302

Summaries for Kallmann Syndrome 5

MalaCards based summary : Kallmann Syndrome 5, also known as kal5, is related to hypogonadotropic hypogonadism 5 with or without anosmia. An important gene associated with Kallmann Syndrome 5 is CHD7 (Chromodomain Helicase DNA Binding Protein 7).

Related Diseases for Kallmann Syndrome 5

Diseases in the Kallmann Syndrome family:

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

Diseases related to Kallmann Syndrome 5 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypogonadotropic hypogonadism 5 with or without anosmia 11.2

Symptoms & Phenotypes for Kallmann Syndrome 5

Drugs & Therapeutics for Kallmann Syndrome 5

Search Clinical Trials , NIH Clinical Center for Kallmann Syndrome 5

Genetic Tests for Kallmann Syndrome 5

Genetic tests related to Kallmann Syndrome 5:

# Genetic test Affiliating Genes
1 Kallmann Syndrome 5 29 CHD7

Anatomical Context for Kallmann Syndrome 5

Publications for Kallmann Syndrome 5

Variations for Kallmann Syndrome 5

ClinVar genetic disease variations for Kallmann Syndrome 5:

6
(show all 13)
# Gene Variation Type Significance SNP ID Assembly Location
1 CHD7 NM_017780.3(CHD7): c.2442+5G> C single nucleotide variant Pathogenic rs387906271 GRCh37 Chromosome 8, 61714157: 61714157
2 CHD7 NM_017780.3(CHD7): c.2442+5G> C single nucleotide variant Pathogenic rs387906271 GRCh38 Chromosome 8, 60801598: 60801598
3 CHD7 CHD7, IVS8, G-A, +5 single nucleotide variant Pathogenic
4 CHD7 NM_017780.3(CHD7): c.164A> G (p.His55Arg) single nucleotide variant Pathogenic rs121434345 GRCh37 Chromosome 8, 61654155: 61654155
5 CHD7 NM_017780.3(CHD7): c.164A> G (p.His55Arg) single nucleotide variant Pathogenic rs121434345 GRCh38 Chromosome 8, 60741596: 60741596
6 CHD7 NM_017780.3(CHD7): c.2731C> T (p.Leu911Phe) single nucleotide variant Likely pathogenic rs886039881 GRCh38 Chromosome 8, 60821823: 60821823
7 CHD7 NM_017780.3(CHD7): c.2731C> T (p.Leu911Phe) single nucleotide variant Likely pathogenic rs886039881 GRCh37 Chromosome 8, 61734382: 61734382
8 CHD7 NM_017780.3(CHD7): c.8458_8459delCT (p.Leu2820Valfs) deletion Pathogenic rs886040962 GRCh38 Chromosome 8, 60865397: 60865398
9 CHD7 NM_017780.3(CHD7): c.8458_8459delCT (p.Leu2820Valfs) deletion Pathogenic rs886040962 GRCh37 Chromosome 8, 61777956: 61777957
10 CHD7 NM_017780.3(CHD7): c.5401C> A (p.His1801Asn) single nucleotide variant Likely pathogenic rs1131692039 GRCh37 Chromosome 8, 61761710: 61761710
11 CHD7 NM_017780.3(CHD7): c.5401C> A (p.His1801Asn) single nucleotide variant Likely pathogenic rs1131692039 GRCh38 Chromosome 8, 60849151: 60849151
12 CHD7 NM_017780.3(CHD7): c.1740_1744delAGTGAinsTC (p.Val581_Lys582delinsGln) indel Uncertain significance GRCh37 Chromosome 8, 61693633: 61693637
13 CHD7 NM_017780.3(CHD7): c.1740_1744delAGTGAinsTC (p.Val581_Lys582delinsGln) indel Uncertain significance GRCh38 Chromosome 8, 60781074: 60781078

Expression for Kallmann Syndrome 5

Search GEO for disease gene expression data for Kallmann Syndrome 5.

Pathways for Kallmann Syndrome 5

GO Terms for Kallmann Syndrome 5

Sources for Kallmann Syndrome 5

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
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44 MeSH
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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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