KAL5
MCID: KLL007
MIFTS: 16

Kallmann Syndrome 5 (KAL5)

Categories: Endocrine diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Kallmann Syndrome 5

MalaCards integrated aliases for Kallmann Syndrome 5:

Name: Kallmann Syndrome 5 20 6 70
Kal5 20

Classifications:



External Ids:

UMLS 70 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 11.3

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

Anatomical Context for Kallmann Syndrome 5

Publications for Kallmann Syndrome 5

Articles related to Kallmann Syndrome 5:

# Title Authors PMID Year
1
Cerebellar vermis hypoplasia in CHARGE syndrome: clinical and molecular characterization of 18 unrelated Korean patients. 6
26538304 2016
2
Complete screening of 50 patients with CHARGE syndrome for anomalies in the CHD7 gene using a denaturing high-performance liquid chromatography-based protocol: new guidelines and a proposal for routine diagnosis. 6
22033296 2012
3
CHD7 mutational analysis and clinical considerations for auditory rehabilitation in deaf patients with CHARGE syndrome. 6
21931733 2011
4
Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. 6
18834967 2008
5
Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability. 6
18074359 2008
6
CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene. 6
16155193 2006
7
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. 6
15300250 2004
8
[How to explore ... congenital isolated hypogonadotrophic hypogonadism]. 61
21189530 2010
9
The psychosocial impact of Klinefelter syndrome--a 10 year review. 61
16759035 2006

Variations for Kallmann Syndrome 5

ClinVar genetic disease variations for Kallmann Syndrome 5:

6 (show top 50) (show all 242)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CHD7 NM_017780.4(CHD7):c.8456_8457CT[1] (p.Leu2820fs) Microsatellite Pathogenic 267364 rs886040962 GRCh37: 8:61777954-61777955
GRCh38: 8:60865395-60865396
2 CHD7 NM_017780.4(CHD7):c.2442+5G>C SNV Pathogenic 2034 rs387906271 GRCh37: 8:61714157-61714157
GRCh38: 8:60801598-60801598
3 CHD7 NM_017780.4(CHD7):c.164A>G (p.His55Arg) SNV Pathogenic 2036 rs121434345 GRCh37: 8:61654155-61654155
GRCh38: 8:60741596-60741596
4 CHD7 NM_017780.4(CHD7):c.7123del (p.Ser2375fs) Deletion Pathogenic 620060 GRCh37: 8:61768720-61768720
GRCh38: 8:60856161-60856161
5 CHD7 NM_017780.4(CHD7):c.2839C>T (p.Arg947Ter) SNV Pathogenic 95781 rs200220845 GRCh37: 8:61734586-61734586
GRCh38: 8:60822027-60822027
6 CHD7 NM_017780.4(CHD7):c.8006dup (p.Pro2670fs) Duplication Pathogenic 818212 rs1586462917 GRCh37: 8:61775140-61775141
GRCh38: 8:60862581-60862582
7 CHD7 NM_017780.4(CHD7):c.7701_7702del (p.Arg2568fs) Microsatellite Pathogenic 973215 GRCh37: 8:61773551-61773552
GRCh38: 8:60860992-60860993
8 CHD7 NM_017780.4(CHD7):c.5405-17G>A SNV Pathogenic 195978 rs794727423 GRCh37: 8:61763035-61763035
GRCh38: 8:60850476-60850476
9 CHD7 NM_017780.4(CHD7):c.6157C>T (p.Arg2053Ter) SNV Pathogenic 158307 rs587783450 GRCh37: 8:61765441-61765441
GRCh38: 8:60852882-60852882
10 CHD7 NM_017780.4(CHD7):c.2613+5G>A SNV Pathogenic 2035 rs202143667 GRCh37: 8:61729065-61729065
GRCh38: 8:60816506-60816506
11 CHD7 NM_017780.4(CHD7):c.3082A>G (p.Ile1028Val) SNV Pathogenic 2022 rs121434338 GRCh37: 8:61735186-61735186
GRCh38: 8:60822627-60822627
12 CHD7 NM_017780.4(CHD7):c.3205C>T (p.Arg1069Ter) SNV Pathogenic 267423 rs886040985 GRCh37: 8:61736402-61736402
GRCh38: 8:60823843-60823843
13 CHD7 NM_017780.4(CHD7):c.5405-7G>A SNV Pathogenic 95795 rs398124321 GRCh37: 8:61763045-61763045
GRCh38: 8:60850486-60850486
14 CHD7 NM_017780.4(CHD7):c.5968C>T (p.Gln1990Ter) SNV Pathogenic 488680 rs1554603970 GRCh37: 8:61765130-61765130
GRCh38: 8:60852571-60852571
15 CHD7 NM_017780.4(CHD7):c.519del (p.Pro174fs) Deletion Pathogenic 1032765 GRCh37: 8:61654510-61654510
GRCh38: 8:60741951-60741951
16 CHD7 NM_017780.4(CHD7):c.5C>A (p.Ala2Glu) SNV Likely pathogenic 1028059 GRCh37: 8:61653996-61653996
GRCh38: 8:60741437-60741437
17 CHD7 NM_017780.4(CHD7):c.3241A>T (p.Ile1081Phe) SNV Likely pathogenic 267424 rs768184220 GRCh37: 8:61736438-61736438
GRCh38: 8:60823879-60823879
18 CHD7 NM_017780.4(CHD7):c.3398C>T (p.Thr1133Met) SNV Likely pathogenic 418124 rs1064793083 GRCh37: 8:61741241-61741241
GRCh38: 8:60828682-60828682
19 CHD7 NM_017780.4(CHD7):c.5401C>A (p.His1801Asn) SNV Likely pathogenic 430606 rs1131692039 GRCh37: 8:61761710-61761710
GRCh38: 8:60849151-60849151
20 CHD7 NM_017780.4(CHD7):c.2731C>T (p.Leu911Phe) SNV Likely pathogenic 265994 rs886039881 GRCh37: 8:61734382-61734382
GRCh38: 8:60821823-60821823
21 CHD7 NM_017780.4(CHD7):c.6469A>G (p.Ile2157Val) SNV Uncertain significance 363474 rs886063039 GRCh37: 8:61765753-61765753
GRCh38: 8:60853194-60853194
22 CHD7 NM_017780.4(CHD7):c.-469G>A SNV Uncertain significance 363423 rs868087197 GRCh37: 8:61591347-61591347
GRCh38: 8:60678788-60678788
23 CHD7 NM_017780.4(CHD7):c.*293G>C SNV Uncertain significance 363493 rs886063044 GRCh37: 8:61778785-61778785
GRCh38: 8:60866226-60866226
24 CHD7 NM_017780.4(CHD7):c.7481C>T (p.Thr2494Ile) SNV Uncertain significance 363479 rs201514840 GRCh37: 8:61769320-61769320
GRCh38: 8:60856761-60856761
25 CHD7 NM_017780.4(CHD7):c.1977C>T (p.Pro659=) SNV Uncertain significance 363448 rs886063034 GRCh37: 8:61693870-61693870
GRCh38: 8:60781311-60781311
26 CHD7 NM_017780.4(CHD7):c.755C>T (p.Ser252Leu) SNV Uncertain significance 363443 rs371930390 GRCh37: 8:61654746-61654746
GRCh38: 8:60742187-60742187
27 CHD7 NM_017780.4(CHD7):c.8213C>T (p.Thr2738Met) SNV Uncertain significance 363481 rs761409446 GRCh37: 8:61777711-61777711
GRCh38: 8:60865152-60865152
28 CHD7 NM_017780.4(CHD7):c.-230G>C SNV Uncertain significance 363438 rs886063030 GRCh37: 8:61591586-61591586
GRCh38: 8:60679027-60679027
29 CHD7 NM_017780.4(CHD7):c.-249C>G SNV Uncertain significance 363437 rs886063029 GRCh37: 8:61591567-61591567
GRCh38: 8:60679008-60679008
30 CHD7 NM_017780.4(CHD7):c.*505C>T SNV Uncertain significance 363495 rs886063046 GRCh37: 8:61778997-61778997
GRCh38: 8:60866438-60866438
31 CHD7 NM_017780.4(CHD7):c.8322C>G (p.Gly2774=) SNV Uncertain significance 260916 rs376063472 GRCh37: 8:61777820-61777820
GRCh38: 8:60865261-60865261
32 CHD7 NM_017780.4(CHD7):c.*1698T>G SNV Uncertain significance 363510 rs544498983 GRCh37: 8:61780190-61780190
GRCh38: 8:60867631-60867631
33 CHD7 NM_017780.4(CHD7):c.-472G>A SNV Uncertain significance 363421 rs865775134 GRCh37: 8:61591344-61591344
GRCh38: 8:60678785-60678785
34 CHD7 NM_017780.4(CHD7):c.1423A>T (p.Met475Leu) SNV Uncertain significance 363446 rs773039925 GRCh37: 8:61655414-61655414
GRCh38: 8:60742855-60742855
35 CHD7 NM_017780.4(CHD7):c.*731G>A SNV Uncertain significance 363498 rs886063049 GRCh37: 8:61779223-61779223
GRCh38: 8:60866664-60866664
36 CHD7 NM_017780.4(CHD7):c.5211-11T>G SNV Uncertain significance 363464 rs886063036 GRCh37: 8:61761063-61761063
GRCh38: 8:60848504-60848504
37 CHD7 NM_017780.4(CHD7):c.202C>T (p.His68Tyr) SNV Uncertain significance 363440 rs886063032 GRCh37: 8:61654193-61654193
GRCh38: 8:60741634-60741634
38 CHD7 NM_017780.4(CHD7):c.-466A>G SNV Uncertain significance 363433 rs71513464 GRCh37: 8:61591350-61591350
GRCh38: 8:60678791-60678791
39 CHD7 NM_017780.4(CHD7):c.*1577C>G SNV Uncertain significance 363506 rs886063052 GRCh37: 8:61780069-61780069
GRCh38: 8:60867510-60867510
40 CHD7 NM_017780.4(CHD7):c.3299G>A (p.Arg1100His) SNV Uncertain significance 363459 rs767259131 GRCh37: 8:61736496-61736496
GRCh38: 8:60823937-60823937
41 CHD7 NM_017780.4(CHD7):c.-481G>A SNV Uncertain significance 363420 rs886063024 GRCh37: 8:61591335-61591335
GRCh38: 8:60678776-60678776
42 CHD7 NM_017780.4(CHD7):c.*659T>C SNV Uncertain significance 363497 rs886063048 GRCh37: 8:61779151-61779151
GRCh38: 8:60866592-60866592
43 CHD7 NM_017780.4(CHD7):c.8855C>G (p.Thr2952Ser) SNV Uncertain significance 363487 rs748655442 GRCh37: 8:61778353-61778353
GRCh38: 8:60865794-60865794
44 CHD7 NM_017780.4(CHD7):c.5343T>C (p.Val1781=) SNV Uncertain significance 363465 rs886063037 GRCh37: 8:61761652-61761652
GRCh38: 8:60849093-60849093
45 CHD7 NM_017780.4(CHD7):c.7082G>A (p.Arg2361Lys) SNV Uncertain significance 363478 rs777753993 GRCh37: 8:61768679-61768679
GRCh38: 8:60856120-60856120
46 CHD7 NM_017780.4(CHD7):c.3779-10A>G SNV Uncertain significance 363460 rs886063035 GRCh37: 8:61748622-61748622
GRCh38: 8:60836063-60836063
47 CHD7 NM_017780.4(CHD7):c.*839A>G SNV Uncertain significance 363499 rs886063050 GRCh37: 8:61779331-61779331
GRCh38: 8:60866772-60866772
48 CHD7 NM_017780.4(CHD7):c.*251T>C SNV Uncertain significance 363492 rs529121143 GRCh37: 8:61778743-61778743
GRCh38: 8:60866184-60866184
49 CHD7 NM_017780.4(CHD7):c.*1788C>T SNV Uncertain significance 363512 rs527801100 GRCh37: 8:61780280-61780280
GRCh38: 8:60867721-60867721
50 CHD7 NM_017780.4(CHD7):c.2820G>A (p.Pro940=) SNV Uncertain significance 363456 rs539734440 GRCh37: 8:61734471-61734471
GRCh38: 8:60821912-60821912

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 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
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39 LOVD
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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
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71 UMLS via Orphanet
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