KMS
MCID: KBK001
MIFTS: 47

Kabuki Syndrome (KMS) malady

Summaries for Kabuki Syndrome

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 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 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 brain, kidney and lung, 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:64 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

Sources:
19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 61UMLS
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Aliases & Descriptions:

kabuki syndrome 19 43 20 21
kabuki make-up syndrome 19 21 61
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

Sources:
17GeneCards, 18GeneDecks
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Diseases in the kabuki syndrome 1 family:

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 275)
idRelated DiseaseScoreTop Affiliating Genes
1cleft palate30.3IRF6, TGFBR2, TGFBR1
2mental retardation30.1TGFBR2
3infertility29.7CD79A
4hepatitis c10.5
5n syndrome10.5
6natural killer cell leukemia10.4
7t-cell leukemia10.4
8acute myeloid leukemia10.4
9hepatitis c virus10.4
10hepatitis a10.3
11hematopoietic stem cell transplantation10.3
12hardikar syndrome10.3
13mondini dysplasia10.3
14char syndrome10.3
15kabuki syndrome 110.3
16kabuki syndrome 210.3
17hepatitis d10.3
18large granular lymphocyte leukemia10.3
19cutis laxa10.3
20renal agenesis10.3
21unilateral renal agenesis10.3
22hepatitis e10.3
23severe combined immunodeficiency, b cell-negative10.3
24hypoplastic left heart syndrome10.2
25micro syndrome10.2
26chronic active epstein-barr virus infection10.2
27vaccinia10.2
28t cell deficiency10.2
29tuberculosis10.2
30leukemia, t-cell, chronic10.2
31severe immunodeficiency, autosomal recessive, t-cell negative, b-cell negative, nk cell-positive10.2
32isolated gonadotropin-releasing hormone deficiency10.2
33eclampsia10.2
34wiskott-aldrich syndrome10.2
35acute t cell leukemia10.2
36ulcerative colitis10.2
37chronic nk-cell lymphocytosis10.2
38adenocarcinoma10.2
39arthritis10.2
40hydroa vacciniforme10.2
41aortic coarctation10.1
42growth hormone deficiency10.1
43kmt2d-related kabuki syndrome10.1
44kdm6a-related kabuki syndrome10.1
45graft versus host disease10.1
46asthma10.1
47peripheral t-cell lymphoma10.1
48cd4+/cd56+ hematodermic neoplasm10.1
49extranodal nasal nk/t cell lymphoma10.1
50tropical spastic paraparesis10.0

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



Diseases related to kabuki syndrome

Clinical Features for Kabuki Syndrome

Drugs & Therapeutics for Kabuki Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Kabuki Syndrome

Drug clinical trials:

Search ClinicalTrials for Kabuki Syndrome

Search NIH Clinical Center for Kabuki Syndrome

Search CenterWatch for Kabuki Syndrome

Genetic Tests for Kabuki Syndrome

Sources:
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

Sources:
33MalaCards
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MalaCards organs/tissues related to Kabuki Syndrome:

33
Brain, Kidney, Lung, Heart, Pituitary

Animal Models for Kabuki Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Kabuki Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053808.8TGFBR1, TGFBR2, SMARCA4, KDM6A, FLRT3

Publications for Kabuki Syndrome

Sources:
51PubMed
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Articles related to Kabuki Syndrome:

(show top 50)    (show all 187)
idTitleAuthorsYear
1
Novel MLL2 mutation in Kabuki syndrome with hypogammaglobulinemia and severe chronic thrombopenia. (23042018)
2013
2
Finger creases lend a hand in Kabuki syndrome. (23933090)
2013
3
Unmasking Kabuki syndrome. (23131014)
2013
4
A novel MLL2 gene mutation in a Korean patient with Kabuki syndrome. (24019847)
2013
5
Kabuki syndrome: a challenge for the primary care provider. (24170483)
2013
6
Surgical treatment of hip dislocation in Kabuki syndrome: use of incomplete periacetabular osteotomy for posterior acetabular wall deficiency. (23904891)
2012
7
Kabuki syndrome revisited. (22437206)
2012
8
Craniofacial and dental characteristics of Kabuki syndrome: nine years cephalometric follow-up. (23019839)
2012
9
Partial anomalous left pulmonary artery along with aortic coarctation in an infant with Kabuki syndrome. (22324629)
2012
10
Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome. (21671394)
2011
11
Strabismus and poor stereoacuity associated with Kabuki syndrome. (21461228)
2011
12
MLL2 mutation spectrum in 45 patients with Kabuki syndrome. (21280141)
2011
13
Ectodermal abnormalities in patients with Kabuki syndrome. (21692838)
2011
14
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. (20711175)
2010
15
Hypoplastic left heart syndrome in patients with Kabuki syndrome. (20725720)
2010
16
Kabuki syndrome and cancer in two patients. (20503331)
2010
17
The C20orf133 gene is disrupted in a patient with Kabuki syndrome. (21720541)
2009
18
Ocular manifestations in Kabuki syndrome: the first report from Saudi Arabia. (17701103)
2008
19
A re-examination of the chromosome 8p22-8p23.1 region in Kabuki syndrome. (18336587)
2008
20
Case report: autistic disorder in Kabuki syndrome. (17721696)
2008
21
Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan. (18593871)
2008
22
Low-grade fibromyxoid sarcoma: yet another malignancy associated with Kabuki syndrome. (18541969)
2008
23
An adult patient with Kabuki syndrome presenting with Henoch-SchAPnlein purpura complicated with pulmonary hemorrhage. (19011790)
2008
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
Chorea associated with antiphospholipid antibodies in a patient with Kabuki syndrome. (17506095)
2007
27
Kabuki syndrome: description of a 2-year old Roumanian boy and review of the literature. (17515307)
2007
28
Niikawa-Kuroki (Kabuki) syndrome with congenital sensorineural deafness: evidence for a wide spectrum of inner ear abnormalities. (16325926)
2006
29
Cutis aplasia as a feature of Kabuki syndrome. (16760740)
2006
30
Cleft palate in Kabuki syndrome: a report of six cases. (17105332)
2006
31
Kabuki syndrome: a case report. (17142329)
2006
32
Genome-wide screening using array-CGH does not reveal microdeletions/microduplications in children with Kabuki syndrome. (15494738)
2005
33
Kabuki syndrome: a review. (15691356)
2005
34
Kabuki syndrome presenting with congenital talipes equinovarus. (15931034)
2005
35
Autoimmune disorders in Kabuki syndrome. (15523604)
2005
36
Structural central nervous system (CNS) anomalies in Kabuki syndrome. (16007616)
2005
37
Hepatic fibrosis in Kabuki syndrome. (14699623)
2004
38
Long-term follow-up of three individuals with Kabuki syndrome. (14981723)
2004
39
Periorbital correction in Kabuki syndrome. (12618605)
2003
40
Aural atresia and microtia in Kabuki syndrome. (12687675)
2003
41
Coloboma and other ophthalmologic anomalies in Kabuki syndrome: distinction from charge association. (14608645)
2003
42
The Kabuki syndrome: four patients with oral abnormalities. (12608719)
2003
43
Defective clavicles in Kabuki syndrome. (12558121)
2002
44
Clinical phenotypes of nine cases of Kabuki syndrome from New Zealand. (11665999)
2001
45
Kabuki syndrome in a Haitian patient. (11298382)
2001
46
Craniofacial and dental characteristics of Kabuki syndrome. (11223856)
2001
47
Phenotypic spectrum and management issues in Kabuki syndrome. (10190924)
1999
48
Epilepsy and polymicrogyria in Kabuki make-up (Niikawa-Kuroki) syndrome. (10465145)
1999
49
Deafness and Mondini dysplasia in Kabuki (Niikawa-Kuroki) syndrome. Report of a case and review of the literature. (9219007)
1997
50
Kabuki syndrome-like features in monozygotic twin boys with a pseudodicentric chromosome 13. (7783176)
1995

Genetic Variations for Kabuki Syndrome

Expression for genes affiliated with Kabuki Syndrome

Sources:
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

Sources:
54Reactome, 38NCBI BioSystems Database, 52QIAGEN, 12EMD Millipore, 4Cell Signaling Technology, 30KEGG, 60Tocris Bioscience, 53R&D Systems
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Compounds for genes affiliated with Kabuki Syndrome

Sources:
45Novoseek, 11DrugBank, 29IUPHAR, 24HMDB, 60Tocris Bioscience
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Compounds related to Kabuki Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1vancomycin45 1110.5SMARCA4, CD79A
2dihydrotestosterone45 29 11 2412.0TGFBR1, TGFBR2, CD79A
3progesterone45 60 29 11 2412.8TGFBR1, TGFBR2, SMARCA4, KLF9

GO Terms for genes affiliated with Kabuki Syndrome

Sources:
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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Kabuki Syndrome

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet