KMS
MCID: KBK001
MIFTS: 57

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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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 based summary: 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 KMT2D (lysine (K)-specific methyltransferase 2D), 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 brain, 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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Kabuki Syndrome, Aliases & Descriptions:

Name: Kabuki Syndrome 19 42 20 21
Kabuki Make-Up Syndrome 19 21 62
Niikawa-Kuroki Syndrome 19 42 21
Kabuki Make Up Syndrome 42 22
 
Kms 42 21
Kabuki Makeup Syndrome 21
Nks 42


Classifications:



Related Diseases for Kabuki Syndrome

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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 368)
idRelated DiseaseScoreTop Affiliating Genes
1kabuki syndrome 131.2KMT2D
2cleft palate30.0IRF6, TGFBR2, TGFBR1
3aneurysm30.0TGFBR2
4glomerulonephritis29.6CD79A, TGFBR2, TGFBR1
5pancreatic cancer29.2TGFBR2, TGFBR1, SMARCA4
6melanoma10.5
7endotheliitis10.5
8hiv-110.5
9hepatitis c10.4
10natural killer cell leukemia10.4
11hardikar syndrome10.4
12mondini dysplasia10.4
13hematopoietic stem cell transplantation10.4
14myeloma10.4
15extranodal nasal nk/t cell lymphoma10.4
16severe combined immunodeficiency10.3
17kabuki syndrome 210.3
18multiple myeloma10.3
19peripheral t-cell lymphoma10.3
20myeloid leukemia10.3
21hepatitis c virus10.3
22cd4+/cd56+ hematodermic neoplasm10.3
23renal agenesis10.3
24cutis laxa10.3
25retinal telangiectasia10.3
26retinitis10.3
27van der woude syndrome10.3
28unilateral renal agenesis10.3
29acute myeloid leukemia10.3
30influenza10.3
31large granular lymphocyte leukemia10.3
32hypoplastic left heart syndrome10.3
33chronic lymphocytic leukemia10.3
34multiple sclerosis10.3
35severe combined immunodeficiency, b cell-negative10.3
36chronic nk-cell lymphocytosis10.2
37neuroblastoma10.2
38tuberculosis10.2
39isolated gonadotropin-releasing hormone deficiency10.2
40hepatitis b10.2
41non-hodgkin lymphoma10.2
42vaccinia10.2
43lung cancer10.2
44chronic active epstein-barr virus infection10.2
45severe immunodeficiency, autosomal recessive, t-cell negative, b-cell negative, nk cell-positive10.2
46purpura10.2
47aortic coarctation10.2
48growth hormone deficiency10.2
49kmt2d-related kabuki syndrome10.2
50kdm6a-related kabuki syndrome10.2

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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Drug clinical trials:

Search ClinicalTrials for Kabuki Syndrome

Search NIH Clinical Center for Kabuki Syndrome

Genetic Tests for Kabuki Syndrome

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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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MalaCards organs/tissues related to Kabuki Syndrome:

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

Animal Models for Kabuki Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Kabuki Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.8KDM6A, TGFBR2, TGFBR1, SMARCA4
2MP:00053808.5FLRT3, KDM6A, TGFBR2, TGFBR1, SMARCA4
3MP:00053858.2SMARCA4, TGFBR1, TGFBR2, KDM6A, FLRT3
4MP:00053848.1SMARCA4, TGFBR1, TGFBR2, KDM6A, IRF6, CD79A
5MP:00036318.0SMARCA4, TGFBR1, TGFBR2, KDM6A, FLRT3, CD79A

Publications for Kabuki Syndrome

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Articles related to Kabuki Syndrome:

(show top 50)    (show all 188)
idTitleAuthorsYear
1
Kabuki syndrome: clinical and molecular diagnosis in the first year of life. (25281733)
2014
2
Acute myocardial infarction in Kabuki syndrome: chance occurrence or a novel risk factor for premature atherosclerosis? (25065336)
2014
3
Kabuki syndrome and perisylvian cortical dysplasia in a Turkish girl. (24470832)
2013
4
Novel MLL2 mutation in Kabuki syndrome with hypogammaglobulinemia and severe chronic thrombopenia. (23042018)
2013
5
Clinical and molecular spectrum of renal malformations in Kabuki syndrome. (23535010)
2013
6
Congenital heart defects in Kabuki syndrome. (23558868)
2013
7
KDM6A point mutations cause Kabuki syndrome. (23076834)
2013
8
Multiple pilomatricomas in Kabuki syndrome. (22304445)
2013
9
Finger creases lend a hand in Kabuki syndrome. (23933090)
2013
10
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
11
Hypothalamic pituitary complications in Kabuki syndrome. (22434255)
2013
12
Surgical treatment of hip dislocation in Kabuki syndrome: use of incomplete periacetabular osteotomy for posterior acetabular wall deficiency. (23904891)
2012
13
Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome. (22740433)
2012
14
How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum. (22126750)
2012
15
Insight into the genetic cause underlying Kabuki syndrome. (21070213)
2011
16
Macular dystrophy in Kabuki syndrome: a new clinical feature? (21766738)
2011
17
Seizures and EEG pattern in Kabuki syndrome. (20061104)
2010
18
Esotropia in Kabuki syndrome. (21214160)
2010
19
Further evidence of dominant inheritance of Kabuki syndrome. (19625956)
2009
20
Ocular manifestations in Kabuki syndrome: the first report from Saudi Arabia. (17701103)
2008
21
Kabuki Syndrome with additional dental findings: a case report. (18647516)
2008
22
A re-examination of the chromosome 8p22-8p23.1 region in Kabuki syndrome. (18336587)
2008
23
Treatment of hip dislocation in Kabuki syndrome: a report of three hips in two patients. (17195795)
2007
24
The C20orf133 gene is disrupted in a patient with Kabuki syndrome. (17586838)
2007
25
Kabuki syndrome with trichrome vitiligo, ectodermal defect and hypogammaglobulinemia A and G. (17174051)
2007
26
BAC-FISH refutes report of an 8p22-8p23.1 inversion or duplication in 8 patients with Kabuki syndrome. (16709256)
2006
27
Triplication of 8p22-8p23 in a patient with features similar to Kabuki syndrome. (16353235)
2006
28
Successful long-term outcome of kidney transplantation in a child with Kabuki syndrome. (16499597)
2006
29
Niikawa-Kuroki (Kabuki) syndrome with congenital sensorineural deafness: evidence for a wide spectrum of inner ear abnormalities. (16325926)
2006
30
Quadrigeminal cistern arachnoid cyst in a patient with Kabuki syndrome. (16765828)
2006
31
Kabuki syndrome: new ocular findings but no evidence of 8p22-p23.1 duplications in a clinically defined cohort. (15785777)
2005
32
Genome-wide screening using array-CGH does not reveal microdeletions/microduplications in children with Kabuki syndrome. (15494738)
2005
33
Symptomatic Chiari I malformation in Kabuki syndrome. (15523623)
2005
34
Kabuki syndrome: Clinical data in 20 patients, literature review, and further guidelines for preventive management. (15690368)
2005
35
Kabuki syndrome: a review. (15691356)
2005
36
Isolated adrenocorticotropin deficiency in a child with Kabuki syndrome. (16042330)
2005
37
Cenani-Lenz syndactyly in a patient with features of Kabuki syndrome. (15194949)
2004
38
Jaw-winking ptosis in a patient with Kabuki syndrome. (15609525)
2004
39
Atypical findings in Kabuki syndrome: report of 8 patients in a series of 20 and review of the literature. (15266618)
2004
40
Periorbital correction in Kabuki syndrome. (12618605)
2003
41
Aural atresia and microtia in Kabuki syndrome. (12687675)
2003
42
Epilepsy and perisylvian polymicrogyria in a patient with Kabuki syndrome. (14667078)
2003
43
Coloboma and other ophthalmologic anomalies in Kabuki syndrome: distinction from charge association. (14608645)
2003
44
Clinical phenotypes of nine cases of Kabuki syndrome from New Zealand. (11665999)
2001
45
Two patients with Kabuki syndrome presenting with endocrine problems. (11305802)
2001
46
Niikawa-Kuroki (Kabuki) syndrome in two siblings. (11309542)
2001
47
Further evidence for autosomal dominant inheritance and ectodermal abnormalities in Kabuki syndrome. (10925391)
2000
48
Kabuki syndrome: description of dental findings in 8 patients. (10517254)
1999
49
Coarctation of the aorta in Kabuki syndrome. (8048822)
1994
50
Kabuki Syndrome (21882399)
1993

Variations for Kabuki Syndrome

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Clinvar genetic disease variations for Kabuki Syndrome:

6
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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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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Pathways related to Kabuki Syndrome according to GeneCards/GeneDecks:

(show all 18)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.5TGFBR2, TGFBR1
29.5TGFBR1, TGFBR2
3
Show member pathways
9.5TGFBR2, TGFBR1
49.5TGFBR1, TGFBR2
5
Show member pathways
9.5TGFBR2, TGFBR1
6
Show member pathways
9.5TGFBR2, TGFBR1
7
Show member pathways
Cell cycle Role of SCF complex in cell cycle regulation60
9.5TGFBR2, TGFBR1
89.5TGFBR2, TGFBR1
99.5TGFBR2, TGFBR1
109.5TGFBR1, TGFBR2
11
Show member pathways
ALK1 pathway37
9.5TGFBR2, TGFBR1
129.5TGFBR1, TGFBR2
139.5TGFBR2, TGFBR1
149.5TGFBR1, TGFBR2
15
Show member pathways
9.5TGFBR2, TGFBR1
169.5TGFBR2, TGFBR1
17
Show member pathways
9.5TGFBR2, TGFBR1
189.1TGFBR2, TGFBR1, SMARCA4

Compounds for genes affiliated with Kabuki Syndrome

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Sources:
44Novoseek, 11DrugBank, 28IUPHAR, 24HMDB, 61Tocris Bioscience
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Compounds related to Kabuki Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1vancomycin44 1110.7CD79A, SMARCA4
2dihydrotestosterone44 28 24 1112.0CD79A, TGFBR2, TGFBR1
3estrogen448.7CD79A, TGFBR2, TGFBR1, SMARCA4
4progesterone44 28 61 24 1112.3SMARCA4, TGFBR1, TGFBR2, KLF9

GO Terms for genes affiliated with Kabuki Syndrome

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Cellular components related to Kabuki Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1histone methyltransferase complexGO:0350979.9KMT2D, KDM6A
2transforming growth factor beta receptor homodimeric complexGO:0700229.2TGFBR2, TGFBR1

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

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1histone H3-K4 methylationGO:05156810.2KMT2D, KDM6A
2keratinocyte differentiationGO:0302169.9IRF6, SMARCA4
3response to estrogenGO:0436279.8KMT2D, TGFBR2
4response to cholesterolGO:0707239.8TGFBR2, TGFBR1
5pathway-restricted SMAD protein phosphorylationGO:0603899.8TGFBR2, TGFBR1
6lens development in camera-type eyeGO:0020889.8TGFBR2, TGFBR1
7embryonic cranial skeleton morphogenesisGO:0487019.7TGFBR1, TGFBR2
8peptidyl-threonine phosphorylationGO:0181079.7TGFBR2, TGFBR1
9vasculogenesisGO:0015709.7SMARCA4, TGFBR2
10embryo implantationGO:0075669.6TGFBR2, KLF9
11peptidyl-serine phosphorylationGO:0181059.6TGFBR2, TGFBR1
12wound healingGO:0420609.5TGFBR1, TGFBR2
13heart developmentGO:0075079.5TGFBR1, TGFBR2, KDM6A
14negative regulation of transforming growth factor beta receptor signaling pathwayGO:0305129.4TGFBR2, TGFBR1
15in utero embryonic developmentGO:0017019.2KMT2D, KDM6A, TGFBR2, TGFBR1
16positive regulation of cell proliferationGO:0082849.2KMT2D, TGFBR2, TGFBR1
17palate developmentGO:0600219.2TGFBR2, TGFBR1

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

idNameGO IDScoreTop Affiliating Genes
1SMAD bindingGO:0463329.5TGFBR2, TGFBR1
2transforming growth factor beta-activated receptor activityGO:0050249.4TGFBR2, TGFBR1
3transforming growth factor beta bindingGO:0504319.2TGFBR2, TGFBR1

Products for genes affiliated with Kabuki Syndrome

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  • Antibodies
  • Proteins
  • Lysates

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet