KAL5
MCID: KLL007
MIFTS: 9

Kallmann Syndrome 5 (KAL5)

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

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 11.3

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

MalaCards organs/tissues related to Kallmann Syndrome 5:

41
Bone

Publications for Kallmann Syndrome 5

Variations for Kallmann Syndrome 5

ClinVar genetic disease variations for Kallmann Syndrome 5:

6 (show all 16)
# 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 NM_017780.3(CHD7): c.2613+5G> A single nucleotide variant Pathogenic rs202143667 GRCh37 Chromosome 8, 61729065: 61729065
4 CHD7 NM_017780.3(CHD7): c.2613+5G> A single nucleotide variant Pathogenic rs202143667 GRCh38 Chromosome 8, 60816506: 60816506
5 CHD7 NM_017780.3(CHD7): c.164A> G (p.His55Arg) single nucleotide variant Pathogenic rs121434345 GRCh37 Chromosome 8, 61654155: 61654155
6 CHD7 NM_017780.3(CHD7): c.164A> G (p.His55Arg) single nucleotide variant Pathogenic rs121434345 GRCh38 Chromosome 8, 60741596: 60741596
7 CHD7 NM_017780.3(CHD7): c.7579A> C (p.Met2527Leu) single nucleotide variant Benign/Likely benign rs192129249 GRCh38 Chromosome 8, 60856859: 60856859
8 CHD7 NM_017780.3(CHD7): c.7579A> C (p.Met2527Leu) single nucleotide variant Benign/Likely benign rs192129249 GRCh37 Chromosome 8, 61769418: 61769418
9 CHD7 NM_017780.3(CHD7): c.2731C> T (p.Leu911Phe) single nucleotide variant Likely pathogenic rs886039881 GRCh38 Chromosome 8, 60821823: 60821823
10 CHD7 NM_017780.3(CHD7): c.2731C> T (p.Leu911Phe) single nucleotide variant Likely pathogenic rs886039881 GRCh37 Chromosome 8, 61734382: 61734382
11 CHD7 NM_017780.3(CHD7): c.8458_8459delCT (p.Leu2820Valfs) deletion Pathogenic rs886040962 GRCh38 Chromosome 8, 60865397: 60865398
12 CHD7 NM_017780.3(CHD7): c.8458_8459delCT (p.Leu2820Valfs) deletion Pathogenic rs886040962 GRCh37 Chromosome 8, 61777956: 61777957
13 CHD7 NM_017780.3(CHD7): c.5401C> A (p.His1801Asn) single nucleotide variant Likely pathogenic rs1131692039 GRCh37 Chromosome 8, 61761710: 61761710
14 CHD7 NM_017780.3(CHD7): c.5401C> A (p.His1801Asn) single nucleotide variant Likely pathogenic rs1131692039 GRCh38 Chromosome 8, 60849151: 60849151
15 CHD7 NM_017780.3(CHD7): c.1740_1744delAGTGAinsTC (p.Val581_Lys582delinsGln) indel Uncertain significance GRCh37 Chromosome 8, 61693633: 61693637
16 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
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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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