KMS
MCID: KBK001
MIFTS: 55

Kabuki Syndrome (KMS) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Fetal diseases categories
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Summaries for Kabuki Syndrome

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21Genetics Home Reference, 43NIH Rare Diseases, 65Wikipedia, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 Kabuki syndrome is a condition, present at birth, which affects many parts of the body. affected individuals have facial features that resemble the make-up worn by actors of kabuki, a japanese theatrical form. facial characteristics of kabuki syndrome may include long eye openings that slant upwards, arched eyebrows, prominent ears, and corners of the mouth that turn downwards. this syndrome typically causes mild to moderate intellectual disability as well as problems involving the heart, skeleton, teeth, and immune system. kabuki syndrome is inherited in an autosomal dominant pattern. most causes are caused by mutations in the mll2 gene. last updated: 9/8/2011

MalaCards: Kabuki Syndrome, also known as kabuki make-up syndrome, is related to kabuki syndrome 1 and cleft palate. An important gene associated with Kabuki Syndrome is KDM6A (lysine (K)-specific demethylase 6A), and among its related pathways are Th17 Differentiation and TGF Beta Signaling Pathway. The compounds vancomycin and dihydrotestosterone have been mentioned in the context of this disorder. Affiliated tissues include heart, eye and pituitary, and related mouse phenotypes are respiratory system and embryogenesis.

Genetics Home Reference:21 Kabuki syndrome is a disorder that affects many parts of the body. It is characterized by distinctive facial features including arched eyebrows; long eyelashes; long openings of the eyelids (long palpebral fissures) with the lower lids turned out (everted) at the outside edges; a flat, broadened tip of the nose; and large protruding earlobes. The name of this disorder comes from the resemblance of its characteristic facial appearance to stage makeup used in traditional Japanese theater called Kabuki.

Wikipedia:65 Kabuki syndrome, also previously known as Kabuki makeup syndrome, KMS or Niikawa?Kuroki Syndrome, is a... more...

GeneReviews summary for kabuki

Aliases & Classifications for Kabuki Syndrome

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19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 62UMLS, 22GTR
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Classifications:



Aliases & Descriptions:

kabuki syndrome 19 43 20 21
kabuki make-up syndrome 19 21 62
niikawa-kuroki syndrome 19 43 21
kabuki make up syndrome 43 22
kms 43 21
kabuki makeup syndrome 21
nks 43


Related Diseases for Kabuki Syndrome

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17GeneCards, 18GeneDecks
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Diseases in the Kabuki Syndrome 1 family:

kabuki syndrome Kmt2d-Related Kabuki Syndrome
Kdm6a-Related Kabuki Syndrome Kabuki Syndrome 2

Diseases related to Kabuki Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 355)
idRelated DiseaseScoreTop Affiliating Genes
1kabuki syndrome 130.6KMT2D
2cleft palate30.3TGFBR1, TGFBR2, IRF6
3aneurysm30.0TGFBR2
4glomerulonephritis29.9TGFBR1, TGFBR2, CD79A
5pancreatic cancer29.6TGFBR1, SMARCA4, TGFBR2
6melanoma10.5
7endotheliitis10.5
8hiv-110.5
9hepatitis c10.4
10natural killer cell leukemia10.4
11hardikar syndrome10.4
12mondini dysplasia10.4
13myeloma10.3
14hematopoietic stem cell transplantation10.3
15kabuki syndrome 210.3
16multiple myeloma10.3
17extranodal nasal nk/t cell lymphoma10.3
18cutis laxa10.3
19renal agenesis10.3
20retinal telangiectasia10.3
21retinitis10.3
22van der woude syndrome10.3
23unilateral renal agenesis10.3
24myeloid leukemia10.3
25severe combined immunodeficiency10.3
26large granular lymphocyte leukemia10.3
27peripheral t-cell lymphoma10.3
28hepatitis c virus10.3
29hypoplastic left heart syndrome10.3
30acute myeloid leukemia10.3
31chronic lymphocytic leukemia10.3
32influenza10.3
33multiple sclerosis10.3
34severe combined immunodeficiency, b cell-negative10.3
35cd4+/cd56+ hematodermic neoplasm10.3
36chronic nk-cell lymphocytosis10.2
37neuroblastoma10.2
38isolated gonadotropin-releasing hormone deficiency10.2
39hepatitis b10.2
40vaccinia10.2
41lung cancer10.2
42tuberculosis10.2
43severe immunodeficiency, autosomal recessive, t-cell negative, b-cell negative, nk cell-positive10.2
44purpura10.2
45aortic coarctation10.2
46growth hormone deficiency10.2
47kmt2d-related kabuki syndrome10.2
48kdm6a-related kabuki syndrome10.2
49ulcerative colitis10.2
50eclampsia10.2

Graphical network of the top 20 diseases related to Kabuki Syndrome:



Diseases related to kabuki syndrome

Symptoms for Kabuki Syndrome

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Drugs & Therapeutics for Kabuki Syndrome

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Kabuki Syndrome

Search NIH Clinical Center for Kabuki Syndrome

Genetic Tests for Kabuki Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Kabuki Syndrome:

id Genetic test Affiliating Genes
1 Kabuki Syndrome20 KDM6A
2 Kabuki Make-Up Syndrome22

Anatomical Context for Kabuki Syndrome

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33MalaCards
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MalaCards organs/tissues related to Kabuki Syndrome:

33
Heart, Eye, Pituitary, Brain, Kidney, Lung, Testes

Animal Models for Kabuki Syndrome or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Kabuki Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053889.0KDM6A, TGFBR2, TGFBR1, SMARCA4
2MP:00053808.7FLRT3, KDM6A, TGFBR2, TGFBR1, SMARCA4
3MP:00053858.4SMARCA4, TGFBR1, TGFBR2, KDM6A, FLRT3
4MP:00053848.3SMARCA4, TGFBR1, TGFBR2, KDM6A, IRF6, CD79A
5MP:00036318.2SMARCA4, TGFBR1, TGFBR2, KDM6A, FLRT3, CD79A

Publications for Kabuki Syndrome

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52PubMed
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Articles related to Kabuki Syndrome:

(show top 50)    (show all 176)
idTitleAuthorsYear
1
Novel MLL2 mutation in Kabuki syndrome with hypogammaglobulinemia and severe chronic thrombopenia. (23042018)
2013
2
Clinical and molecular spectrum of renal malformations in Kabuki syndrome. (23535010)
2013
3
Congenital heart defects in Kabuki syndrome. (23558868)
2013
4
KDM6A point mutations cause Kabuki syndrome. (23076834)
2013
5
Multiple pilomatricomas in Kabuki syndrome. (22304445)
2013
6
Finger creases lend a hand in Kabuki syndrome. (23933090)
2013
7
A novel mutation in SOX3 polyalanine tract: a case of kabuki syndrome with combined pituitary hormone deficiency harboring double mutations in MLL2 and SOX3. (24346842)
2013
8
Hypothalamic pituitary complications in Kabuki syndrome. (22434255)
2013
9
Surgical treatment of hip dislocation in Kabuki syndrome: use of incomplete periacetabular osteotomy for posterior acetabular wall deficiency. (23904891)
2012
10
Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome. (22740433)
2012
11
How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum. (22126750)
2012
12
Insight into the genetic cause underlying Kabuki syndrome. (21070213)
2011
13
Macular dystrophy in Kabuki syndrome: a new clinical feature? (21766738)
2011
14
Seizures and EEG pattern in Kabuki syndrome. (20061104)
2010
15
Esotropia in Kabuki syndrome. (21214160)
2010
16
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. (20711175)
2010
17
Further evidence of dominant inheritance of Kabuki syndrome. (19625956)
2009
18
Ocular manifestations in Kabuki syndrome: the first report from Saudi Arabia. (17701103)
2008
19
Kabuki Syndrome with additional dental findings: a case report. (18647516)
2008
20
A re-examination of the chromosome 8p22-8p23.1 region in Kabuki syndrome. (18336587)
2008
21
Treatment of hip dislocation in Kabuki syndrome: a report of three hips in two patients. (17195795)
2007
22
The C20orf133 gene is disrupted in a patient with Kabuki syndrome. (17586838)
2007
23
Kabuki syndrome with trichrome vitiligo, ectodermal defect and hypogammaglobulinemia A and G. (17174051)
2007
24
BAC-FISH refutes report of an 8p22-8p23.1 inversion or duplication in 8 patients with Kabuki syndrome. (16709256)
2006
25
Triplication of 8p22-8p23 in a patient with features similar to Kabuki syndrome. (16353235)
2006
26
Successful long-term outcome of kidney transplantation in a child with Kabuki syndrome. (16499597)
2006
27
Niikawa-Kuroki (Kabuki) syndrome with congenital sensorineural deafness: evidence for a wide spectrum of inner ear abnormalities. (16325926)
2006
28
Quadrigeminal cistern arachnoid cyst in a patient with Kabuki syndrome. (16765828)
2006
29
Kabuki syndrome: new ocular findings but no evidence of 8p22-p23.1 duplications in a clinically defined cohort. (15785777)
2005
30
Genome-wide screening using array-CGH does not reveal microdeletions/microduplications in children with Kabuki syndrome. (15494738)
2005
31
Symptomatic Chiari I malformation in Kabuki syndrome. (15523623)
2005
32
Kabuki syndrome: Clinical data in 20 patients, literature review, and further guidelines for preventive management. (15690368)
2005
33
Kabuki syndrome: a review. (15691356)
2005
34
Isolated adrenocorticotropin deficiency in a child with Kabuki syndrome. (16042330)
2005
35
Cenani-Lenz syndactyly in a patient with features of Kabuki syndrome. (15194949)
2004
36
Jaw-winking ptosis in a patient with Kabuki syndrome. (15609525)
2004
37
Temporo-occipital spikes: are they so typical for Kabuki syndrome? (15519126)
2004
38
Atypical findings in Kabuki syndrome: report of 8 patients in a series of 20 and review of the literature. (15266618)
2004
39
Periorbital correction in Kabuki syndrome. (12618605)
2003
40
Aural atresia and microtia in Kabuki syndrome. (12687675)
2003
41
Epilepsy and perisylvian polymicrogyria in a patient with Kabuki syndrome. (14667078)
2003
42
Coloboma and other ophthalmologic anomalies in Kabuki syndrome: distinction from charge association. (14608645)
2003
43
Clinical phenotypes of nine cases of Kabuki syndrome from New Zealand. (11665999)
2001
44
Two patients with Kabuki syndrome presenting with endocrine problems. (11305802)
2001
45
Niikawa-Kuroki (Kabuki) syndrome in two siblings. (11309542)
2001
46
Further evidence for autosomal dominant inheritance and ectodermal abnormalities in Kabuki syndrome. (10925391)
2000
47
Kabuki syndrome: description of dental findings in 8 patients. (10517254)
1999
48
Phenotypic spectrum and management issues in Kabuki syndrome. (10190924)
1999
49
Coarctation of the aorta in Kabuki syndrome. (8048822)
1994
50
Kabuki Syndrome (21882399)
1993

Variations for Kabuki Syndrome

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Kabuki Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1KMT2DNM_003482.3(KMT2D): c.15536G> A (p.Arg5179His)single nucleotide variantPathogenicrs267607237GRCh37Chr 12, 49420213: 49420213
2KMT2DNM_003482.3(KMT2D): c.13579A> T (p.Lys4527Ter)single nucleotide variantPathogenicrs267607240GRCh37Chr 12, 49424768: 49424768
3KMT2DNM_003482.3(KMT2D): c.16360C> T (p.Arg5454Ter)single nucleotide variantPathogenicrs267607239GRCh37Chr 12, 49416115: 49416115
4KMT2DNM_003482.3(KMT2D): c.16391C> T (p.Thr5464Met)single nucleotide variantPathogenicrs267607238GRCh37Chr 12, 49416084: 49416084

Expression for genes affiliated with Kabuki Syndrome

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Kabuki Syndrome

Search GEO for disease gene expression data for Kabuki Syndrome.

Pathways for genes affiliated with Kabuki Syndrome

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50PathCards, 54R&D Systems, 38NCBI BioSystems Database, 60Thomson Reuters, 55Reactome, 57SinoBiological, 30KEGG, 53QIAGEN, 5Cell Signaling Technology
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Pathways related to Kabuki Syndrome according to GeneCards/GeneDecks:

(show all 18)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.6TGFBR2, TGFBR1
29.6TGFBR1, TGFBR2
3
Show member pathways
9.6TGFBR2, TGFBR1
49.6TGFBR1, TGFBR2
5
Show member pathways
9.6TGFBR2, TGFBR1
6
Show member pathways
9.6TGFBR2, TGFBR1
7
Show member pathways
Cell cycle Role of SCF complex in cell cycle regulation60
9.6TGFBR2, TGFBR1
89.6TGFBR2, TGFBR1
99.6TGFBR2, TGFBR1
109.6TGFBR1, TGFBR2
11
Show member pathways
ALK1 pathway38
9.6TGFBR2, TGFBR1
129.6TGFBR1, TGFBR2
139.6TGFBR2, TGFBR1
149.6TGFBR1, TGFBR2
15
Show member pathways
9.6TGFBR2, TGFBR1
169.6TGFBR2, TGFBR1
17
Show member pathways
9.6TGFBR2, TGFBR1
189.2TGFBR2, TGFBR1, SMARCA4

Compounds for genes affiliated with Kabuki Syndrome

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45Novoseek, 11DrugBank, 29IUPHAR, 24HMDB, 61Tocris Bioscience
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Compounds related to Kabuki Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1vancomycin45 1110.8CD79A, SMARCA4
2dihydrotestosterone45 29 24 1112.2CD79A, TGFBR2, TGFBR1
3estrogen458.9CD79A, TGFBR2, TGFBR1, SMARCA4
4progesterone45 29 61 24 1112.4SMARCA4, TGFBR1, TGFBR2, KLF9

GO Terms for genes affiliated with Kabuki Syndrome

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16Gene Ontology
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Cellular components related to Kabuki Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1histone methyltransferase complexGO:0350979.6KMT2D, KDM6A
2transforming growth factor beta receptor homodimeric complexGO:0700229.3TGFBR2, TGFBR1

Biological processes related to Kabuki Syndrome according to GeneCards/GeneDecks:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1keratinocyte differentiationGO:03021610.0IRF6, SMARCA4
2response to cholesterolGO:0707239.9TGFBR2, TGFBR1
3pathway-restricted SMAD protein phosphorylationGO:0603899.9TGFBR2, TGFBR1
4lens development in camera-type eyeGO:0020889.9TGFBR2, TGFBR1
5embryonic cranial skeleton morphogenesisGO:0487019.9TGFBR1, TGFBR2
6histone H3-K4 methylationGO:0515689.8KMT2D, KDM6A
7peptidyl-threonine phosphorylationGO:0181079.8TGFBR2, TGFBR1
8vasculogenesisGO:0015709.8SMARCA4, TGFBR2
9embryo implantationGO:0075669.7TGFBR2, KLF9
10peptidyl-serine phosphorylationGO:0181059.7TGFBR2, TGFBR1
11wound healingGO:0420609.6TGFBR1, TGFBR2
12heart developmentGO:0075079.6TGFBR1, TGFBR2, KDM6A
13response to estrogenGO:0436279.5KMT2D, TGFBR2
14negative regulation of transforming growth factor beta receptor signaling pathwayGO:0305129.5TGFBR2, TGFBR1
15palate developmentGO:0600219.3TGFBR2, TGFBR1
16in utero embryonic developmentGO:0017019.0KMT2D, KDM6A, TGFBR2, TGFBR1
17positive regulation of cell proliferationGO:0082849.0KMT2D, TGFBR2, TGFBR1

Molecular functions related to Kabuki Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1SMAD bindingGO:0463329.6TGFBR2, TGFBR1
2transforming growth factor beta-activated receptor activityGO:0050249.5TGFBR2, TGFBR1
3transforming growth factor beta bindingGO:0504319.3TGFBR2, TGFBR1

Products for genes affiliated with Kabuki Syndrome

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Sources for Kabuki Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet