KMS
MCID: KBK001
MIFTS: 48

Kabuki Syndrome (KMS) malady

Summaries for Kabuki Syndrome

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 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 cleft palate and mental retardation. An important gene associated with Kabuki Syndrome is KDM6A (lysine (K)-specific demethylase 6A), and among its related pathways are Signaling by GPCR and Glypican 1 network. The compounds vancomycin and dihydrotestosterone have been mentioned in the context of this disorder. Affiliated tissues include heart, eye and pituitary, and related mouse phenotype 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:63 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, 42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 60UMLS, 22GTR
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Aliases & Descriptions:

kabuki syndrome 19 42 20 21
kabuki make-up syndrome 19 21 60
niikawa-kuroki syndrome 19 42 21
kabuki make up syndrome 42 22
kms 42 21
kabuki makeup syndrome 21
nks 42


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 342)
idRelated DiseaseScoreTop Affiliating Genes
1cleft palate30.3TGFBR1, TGFBR2, IRF6
2mental retardation30.0TGFBR2
3cleft lip29.9IRF6
4leukemia29.9TGFBR1, CD79A, SMARCA4
5infertility29.6CD79A
6pancreatic cancer29.6SMARCA4, TGFBR2, TGFBR1
7melanoma10.4
8hepatitis c10.4
9myeloid leukemia10.4
10natural killer cell leukemia10.3
11acute myeloid leukemia10.3
12myeloma10.3
13kabuki syndrome 110.3
14kabuki syndrome 210.3
15multiple myeloma10.3
16cutis laxa10.2
17renal agenesis10.2
18retinal telangiectasia10.2
19retinitis10.2
20chronic nk-cell lymphocytosis10.2
21chronic lymphocytic leukemia10.2
22influenza10.2
23severe combined immunodeficiency10.2
24hypoplastic left heart syndrome10.2
25multiple sclerosis10.2
26severe combined immunodeficiency, b cell-negative10.2
27cd4+/cd56+ hematodermic neoplasm10.2
28extranodal nasal nk/t cell lymphoma10.2
29hepatitis b10.2
30neuroblastoma10.2
31vaccinia10.1
32hepatitis a10.1
33b cell deficiency10.1
34lung cancer10.1
35t cell deficiency10.1
36tuberculosis10.1
37severe immunodeficiency, autosomal recessive, t-cell negative, b-cell negative, nk cell-positive10.1
38isolated gonadotropin-releasing hormone deficiency10.1
39congenital heart defect10.1
40purpura10.1
41kmt2d-related kabuki syndrome10.1
42kdm6a-related kabuki syndrome10.1
43eclampsia10.1
44wiskott-aldrich syndrome10.1
45ulcerative colitis10.1
46adenocarcinoma10.1
47arthritis10.1
48breast cancer10.1
49cervical cancer10.1
50cervicitis10.1

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



Diseases related to kabuki syndrome

Clinical Features for Kabuki Syndrome

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Drugs & Therapeutics for Kabuki Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch 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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32MalaCards
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MalaCards organs/tissues related to Kabuki Syndrome:

32
Heart, Eye, Pituitary, Brain, Kidney, Lung, Testes

Animal Models for Kabuki Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Kabuki Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053808.8TGFBR1, TGFBR2, SMARCA4, KDM6A, FLRT3

Publications for Kabuki Syndrome

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50PubMed
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Articles related to Kabuki Syndrome:

(show top 50)    (show all 187)
idTitleAuthorsYear
1
Hypoglycemia in Kabuki syndrome. (24311525)
2014
2
Congenital heart defects in Kabuki syndrome. (23558868)
2013
3
KDM6A point mutations cause Kabuki syndrome. (23076834)
2013
4
Multiple pilomatricomas in Kabuki syndrome. (22304445)
2013
5
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
6
Craniofacial and dental features in kabuki syndrome patients. (22023252)
2013
7
Lower Lip Pits: Van der Woude or Kabuki Syndrome? (24088119)
2013
8
Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome. (22740433)
2012
9
Infrequent Manifestations of Kabuki Syndrome in a Patient with Novel MLL2 Mutation. (23239960)
2012
10
Membranoproliferative glomerulonephritis Type 3 associated with Kabuki syndrome. (23149249)
2012
11
Insight into the genetic cause underlying Kabuki syndrome. (21070213)
2011
12
Macular dystrophy in Kabuki syndrome: a new clinical feature? (21766738)
2011
13
An infantile case of Zellweger syndrome presented with Kabuki-like phenotype. (21848015)
2011
14
Cancer predisposition in children with Kabuki syndrome. (21548020)
2011
15
Isochromosome X mosaicism in a child with Kabuki syndrome phenotype: A rare cytogenetic association. (22346002)
2011
16
Tremor and deep brain nuclei hyperintensities in Kabuki syndrome. (20610129)
2010
17
Latex allergy in a patient with Kabuki syndrome. Case report. (20863935)
2010
18
Dental evaluation of Kabuki syndrome patients. (19860501)
2009
19
Kabuki make-up syndrome with unilateral renal agenesis. (19817278)
2009
20
Audiological and vestibular findings in the Kabuki syndrome. (19161135)
2009
21
New fundus findings in a case of Kabuki syndrome. (18654606)
2009
22
Kabuki syndrome and neonatal cholestasis: report of a new case and review of the literature. (17667726)
2007
23
A case of Kabuki syndrome presenting West syndrome. (17174498)
2007
24
Anesthesia for a child with Kabuki Syndrome. (17683412)
2007
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
The spectrum of congenital cardiac malformations encountered in six children with Kabuki syndrome. (16454874)
2006
28
CR10/80--Lymphoid interstitial pneumonia and Kabuki-Syndrome in a young man. (17036410)
2006
29
Kabuki syndrome: Clinical data in 20 patients, literature review, and further guidelines for preventive management. (15690368)
2005
30
Kabuki syndrome is not caused by an 8p duplication: a cytogenetic study in 20 patients. (15578614)
2005
31
Familial transmission of a dysmorphic syndrome: a variant example of Kabuki syndrome? (16080297)
2005
32
Neonatal phenotype in Kabuki syndrome. (15690369)
2005
33
Further delineation of Kabuki syndrome in 48 well-defined new individuals. (15690370)
2005
34
Cutis laxa in Kabuki make-up syndrome. (16227101)
2005
35
Cardiac conduction abnormalities and congenital immunodeficiency in a child with Kabuki syndrome: case report. (16042804)
2005
36
Developmental outcome in Kabuki syndrome. (15523636)
2005
37
Temporo-occipital spikes: are they so typical for Kabuki syndrome? (15519126)
2004
38
Temporo-occipital spikes: a typical EEG finding in Kabuki syndrome. (14738956)
2004
39
Epilepsy and perisylvian polymicrogyria in a patient with Kabuki syndrome. (14667078)
2003
40
Speech characteristics in the Kabuki syndrome. (12522787)
2003
41
Unmasking Kabuki syndrome: chromosome 8p22-8p23.1 duplication revealed by comparative genomic hybridization and BAC-FISH. (14986831)
2003
42
Kabuki syndrome: a review study of three hundred patients. (12002156)
2002
43
Niikawa-Kuroki (Kabuki) syndrome in two siblings. (11309542)
2001
44
Kabuki syndrome and diaphragmatic defects: a frequent association in non-Asian patients? (10748421)
2000
45
Unexpected life-threatening complications in Kabuki syndrome. (10982974)
2000
46
Biliary atresia in Kabuki syndrome. (10748418)
2000
47
Kabuki syndrome. (9787515)
1998
48
Kabuki make-up syndrome associated with West syndrome. (9241911)
1997
49
Kabuki syndrome: underdiagnosed recognizable pattern in cleft palate patients. (7727492)
1995
50
Kabuki Syndrome (21882399)
1993

Genetic Variations for Kabuki Syndrome

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Expression for genes affiliated with Kabuki Syndrome

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1BioGPS, 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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53Reactome, 37NCBI BioSystems Database, 51QIAGEN, 12EMD Millipore, 4Cell Signaling Technology, 29KEGG, 59Tocris Bioscience, 52R&D Systems
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Compounds for genes affiliated with Kabuki Syndrome

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44Novoseek, 11DrugBank, 28IUPHAR, 24HMDB, 59Tocris Bioscience
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Compounds related to Kabuki Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1vancomycin44 1110.5SMARCA4, CD79A
2dihydrotestosterone44 28 11 2412.0TGFBR1, TGFBR2, CD79A
3progesterone44 59 28 11 2412.8TGFBR1, TGFBR2, SMARCA4, 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
1receptor complexGO:0432359.7TGFBR1, TGFBR2
2transforming growth factor beta receptor homodimeric complexGO:0700229.6TGFBR1, TGFBR2
3histone methyltransferase complexGO:0350979.3KDM6A, KMT2D

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1response to cholesterolGO:0707239.9TGFBR2, TGFBR1
2pathway-restricted SMAD protein phosphorylationGO:0603899.9TGFBR1, TGFBR2
3lens development in camera-type eyeGO:0020889.7TGFBR1, TGFBR2
4histone H3-K4 methylationGO:0515689.7KDM6A, KMT2D
5embryonic cranial skeleton morphogenesisGO:0487019.6TGFBR1, TGFBR2
6embryo implantationGO:0075669.5TGFBR2, KLF9
7heart developmentGO:0075079.5KDM6A, TGFBR2, TGFBR1
8peptidyl-threonine phosphorylationGO:0181079.4TGFBR1, TGFBR2
9in utero embryonic developmentGO:0017019.0TGFBR1, TGFBR2, KDM6A, KMT2D

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

idNameGO IDScoreTop Affiliating Genes
1transmembrane receptor protein serine/threonine kinase activityGO:0046759.7TGFBR1, TGFBR2
2SMAD bindingGO:0463329.7TGFBR1, TGFBR2
3transforming growth factor beta bindingGO:0504319.6TGFBR1, TGFBR2
4transforming growth factor beta-activated receptor activityGO:0050249.4TGFBR1, TGFBR2

Products for genes affiliated with Kabuki Syndrome

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Sources for Kabuki Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet