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
Low-level hyperinsulinism with hypoglycemic spells in an infant with mosaic Turner syndrome and mild Kabuki-like phenotype: a case report and review of the literature. (23950569)
2014
2
Novel MLL2 mutation in Kabuki syndrome with hypogammaglobulinemia and severe chronic thrombopenia. (23042018)
2013
3
Unmasking Kabuki syndrome. (23131014)
2013
4
MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome. (22901312)
2013
5
MLL2 and KDM6A mutations in patients with Kabuki syndrome. (23913813)
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
Kabuki syndrome: diagnostic and treatment considerations. (23997823)
2012
10
Is Hardikar syndrome distinct from Kabuki (Niikawa-Kuroki) syndrome? (22243360)
2011
11
Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients. (21658225)
2011
12
Seizures and EEG pattern in Kabuki syndrome. (20061104)
2010
13
Esotropia in Kabuki syndrome. (21214160)
2010
14
Hypoplastic left heart syndrome in patients with Kabuki syndrome. (19967352)
2010
15
Craniosynostosis in Kabuki syndrome. (20672944)
2010
16
Developmental profile and trajectory of neuropsychological skills in a child with Kabuki syndrome: implications for assessment of syndromes associated with intellectual disability. (20812142)
2010
17
Kabuki syndrome and Crohn disease in a child with familial hypocalciuric hypercalcemia. (21175100)
2010
18
Further evidence of dominant inheritance of Kabuki syndrome. (19625956)
2009
19
Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome. (19343044)
2009
20
Successful treatment with rituximab of refractory idiopathic thrombocytopenic purpura in a patient with Kabuki syndrome. (19662467)
2009
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
Kabuki syndrome and trisomy 10p. (18990985)
2008
24
Kabuki syndrome in a girl with mosaic 45,X/47,XXX and aortic coarctation. (17953951)
2008
25
A small and active ring X chromosome in a female with features of Kabuki syndrome. (18925662)
2008
26
Pathologic aneurysmal dilation of the ascending aorta and dilation of the main pulmonary artery in patients with Kabuki syndrome: valve-sparing aortic root replacement. (18377436)
2007
27
Kabuki syndrome: description of a 2-year old Roumanian boy and review of the literature. (17515307)
2007
28
Quadrigeminal cistern arachnoid cyst in a patient with Kabuki syndrome. (16765828)
2006
29
Kabuki syndrome and diaphragmatic defect. (16820668)
2006
30
Cleft palate in Kabuki syndrome: a report of six cases. (17105332)
2006
31
Kabuki syndrome: a case report. (17142329)
2006
32
Symptomatic Chiari I malformation in Kabuki syndrome. (15523623)
2005
33
Immune abnormalities are a frequent manifestation of Kabuki syndrome. (15887282)
2005
34
Expressive language in children with Kabuki syndrome. (15578615)
2005
35
Coats-type retinal telangiectasia in case of Kabuki make-up syndrome (Niikawa-Kuroki syndrome). (16352479)
2005
36
Autoimmune disorders in Kabuki syndrome. (15523604)
2005
37
Structural central nervous system (CNS) anomalies in Kabuki syndrome. (16007616)
2005
38
Cenani-Lenz syndactyly in a patient with features of Kabuki syndrome. (15194949)
2004
39
Atypical findings in Kabuki syndrome: report of 8 patients in a series of 20 and review of the literature. (15266618)
2004
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
A case showing an association between type 1 diabetes mellitus and Kabuki syndrome. (12639762)
2003
43
Patient with Kabuki syndrome and acute leukemia. (12949977)
2003
44
Macular deposits: a new feature of Kabuki syndrome? (12148563)
2002
45
Kabuki syndrome and growth hormone deficiency: description of a case treated by long-term hormone replacement. (11822710)
2002
46
Kabuki syndrome: report of six Thai children and further phenotypic and genetic delineation. (12116214)
2002
47
Microtia associated with the Kabuki (Niikawa-Kuroki) syndrome. (11700460)
2001
48
Kabuki syndrome in a Haitian patient. (11298382)
2001
49
Congenital heart defects in Kabuki syndrome. (11343317)
2001
50
Ring chromosome X in a child with manifestations of Kabuki syndrome. (9129739)
1997

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

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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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  • Lysates
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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