KABUK1
MCID: KBK002
MIFTS: 67

Kabuki Syndrome 1 (KABUK1)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Kabuki Syndrome 1

MalaCards integrated aliases for Kabuki Syndrome 1:

Name: Kabuki Syndrome 1 56 73 29 13 6
Kabuki Syndrome 56 12 74 24 52 25 58 73 36 29 6 43 15
Niikawa-Kuroki Syndrome 56 12 24 52 25 58 73
Kabuki Make-Up Syndrome 56 24 25 58 73
Kms 56 12 52 25 73
Kabuki Make Up Syndrome 12 52
Kabuk1 56 73
Kabuki Make-Up Syndrome; Kms 56
Kabuki Syndrome, Type 1 39
Kabuki Makeup Syndrome 25
Nks 52

Characteristics:

Orphanet epidemiological data:

58
kabuki syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
majority of cases are sporadic
increased susceptibility to infections


HPO:

31
kabuki syndrome 1:
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance Penetrance for pathogenic variants in kmt2d appears to be complete; not enough information is available to make any conclusions regarding penetrance for those with pathogenic variants in kdm6a. variable expressivity may lead to underascertainment of mildly affected individuals.

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis


Summaries for Kabuki Syndrome 1

Genetics Home Reference : 25 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 Kabuki theater. People with Kabuki syndrome have mild to severe developmental delay and intellectual disability. Affected individuals may also have seizures, an unusually small head size (microcephaly), or weak muscle tone (hypotonia). Some have eye problems such as rapid, involuntary eye movements (nystagmus) or eyes that do not look in the same direction (strabismus). Other characteristic features of Kabuki syndrome include short stature and skeletal abnormalities such as abnormal side-to-side curvature of the spine (scoliosis), short fifth (pinky) fingers, or problems with the hip and knee joints. The roof of the mouth may have an abnormal opening (cleft palate) or be high and arched, and dental problems are common in affected individuals. People with Kabuki syndrome may also have fingerprints with unusual features and fleshy pads at the tips of the fingers. These prominent finger pads are called fetal finger pads because they normally occur in human fetuses; in most people they disappear before birth. A wide variety of other health problems occur in some people with Kabuki syndrome. Among the most commonly reported are heart abnormalities, frequent ear infections (otitis media), hearing loss, and early puberty.

MalaCards based summary : Kabuki Syndrome 1, also known as kabuki syndrome, is related to myeloma, multiple and leukemia, acute myeloid. An important gene associated with Kabuki Syndrome 1 is KMT2D (Lysine Methyltransferase 2D), and among its related pathways/superpathways are Lysine degradation and Chromatin organization. The drugs Dopamine and Risperidone have been mentioned in the context of this disorder. Affiliated tissues include heart, t cells and eye, and related phenotypes are macrotia and protruding ear

Disease Ontology : 12 A syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects.

NIH Rare Diseases : 52 Kabuki syndrome is a rare disorder that affects multiple parts of the body. It is present from birth. Specific symptoms and severity can vary. Features often include a characteristic facial appearance; skeletal abnormalities; short stature ; heart defects; and intellectual disability . Other signs and symptoms may include seizures , microcephaly , weak muscle tone (hypotonia ), eye problems, cleft palate , and dental problems. A variety of other health problems may also occur. Kabuki syndrome is most often caused by a mutation in the KMT2D gene , and inherited in an autosomal dominant manner. Some cases are due to a mutation in the KDM6A gene and are inherited in an X-linked dominant manner. Treatment is focused on the specific signs and symptoms in each affected person.

OMIM : 56 Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids (reminiscent of the make-up of actors of Kabuki, a Japanese traditional theatrical form), a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy (Niikawa et al., 1981). (147920)

KEGG : 36 Kabuki syndrome, or Kabuki make-up syndrome, is a multiple malformation/mental retardation syndrome that is inherited in an autosomal dominant manner. Patients often have long palpebral fissures with eversion of the lateral one-third of the lower eyelids and arched and broad eyebrows that resemble the make-up of actors in Kabuki, the traditional Japanese play. Other features include postnatal growth delay during the first year of life, persistent fetal fingertip pads, congenital heart defects, and skeletal anomalies such as the absence of digital triradius c and/or d.

UniProtKB/Swiss-Prot : 73 Kabuki syndrome 1: A congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids, a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy.

Wikipedia : 74 Kabuki syndrome (also previously known as Kabuki-makeup syndrome (KMS) or Niikawa-Kuroki syndrome) is a... more...

GeneReviews: NBK62111

Related Diseases for Kabuki Syndrome 1

Diseases in the Kabuki Syndrome 1 family:

Kabuki Syndrome 2

Diseases related to Kabuki Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1220)
# Related Disease Score Top Affiliating Genes
1 myeloma, multiple 31.6 SDC1 KMT2D KDM4C H2AC18 CASC3
2 leukemia, acute myeloid 30.8 KMT2D KMT2C KMT2A KDM6A KDM4C H2AC18
3 sotos syndrome 1 30.7 KMT2D KMT2B KDM6A H2AC18 DNMT3B
4 corneal staphyloma 30.7 KMT2D KMT2B
5 isolated growth hormone deficiency type iii 30.5 KMT2D KMT2B
6 immunodeficiency-centromeric instability-facial anomalies syndrome 30.3 ZBTB24 H2AC18 DNMT3B
7 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative 12.8
8 aggressive nk-cell leukemia 12.7
9 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive 12.7
10 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency 12.5
11 chronic nk-cell lymphocytosis 12.4
12 nk-cell enteropathy 12.3
13 lethal midline granuloma 12.2
14 severe combined immunodeficiency, x-linked 12.2
15 immunodeficiency 19 12.1
16 blastic plasmacytoid dendritic cell 12.0
17 immunodeficiency 20 12.0
18 immunodeficiency 21 12.0
19 immunodeficiency 55 12.0
20 severe combined immunodeficiency with sensitivity to ionizing radiation 11.8
21 peripheral t-cell lymphoma 11.8
22 immunodeficiency 17 11.8
23 chronic lymphoproliferative disorder of natural killer cells 11.8
24 graft-versus-host disease 11.6
25 au-kline syndrome 11.6
26 combined t cell and b cell immunodeficiency 11.5
27 immunodeficiency 49 11.5
28 polymorphic reticulosis 11.4
29 malignant histiocytosis 11.4
30 interleukin-7 receptor alpha deficiency 11.4
31 griscelli syndrome 11.4
32 hemangioma-thrombocytopenia syndrome 11.4
33 hypogonadotropic hypogonadism 1 with or without anosmia 11.4
34 immunodeficiency 32b 11.4
35 hemophagocytic lymphohistiocytosis, familial, 4 11.4
36 hemophagocytic lymphohistiocytosis, familial, 2 11.4
37 immunodeficiency 63 with lymphoproliferation and autoimmunity 11.4
38 jak3-deficient severe combined immunodeficiency 11.3
39 immunodeficiency 64 11.3
40 kabuki syndrome 2 11.3
41 radiation sensitivity of natural killer activity 11.3
42 severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation 11.3
43 adenosine deaminase deficiency 11.3
44 codas syndrome 11.2
45 hardikar syndrome 11.2
46 reticular dysgenesis 11.2
47 immunodeficiency 56 11.2
48 immunodeficiency 18 11.2
49 immunodeficiency 40 11.2
50 hyper-ige recurrent infection syndrome 3, autosomal recessive 11.2

Graphical network of the top 20 diseases related to Kabuki Syndrome 1:



Diseases related to Kabuki Syndrome 1

Symptoms & Phenotypes for Kabuki Syndrome 1

Human phenotypes related to Kabuki Syndrome 1:

58 31 (show top 50) (show all 96)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrotia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000400
2 protruding ear 58 31 hallmark (90%) Very frequent (99-80%) HP:0000411
3 highly arched eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0002553
4 abnormal dermatoglyphics 58 31 hallmark (90%) Very frequent (99-80%) HP:0007477
5 short 5th finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0009237
6 hemivertebrae 58 31 hallmark (90%) Very frequent (99-80%) HP:0002937
7 long eyelashes 58 31 hallmark (90%) Very frequent (99-80%) HP:0000527
8 butterfly vertebrae 58 31 hallmark (90%) Very frequent (99-80%) HP:0003316
9 sparse lateral eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0005338
10 short columella 58 31 hallmark (90%) Very frequent (99-80%) HP:0002000
11 short middle phalanx of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0005819
12 eversion of lateral third of lower eyelids 58 31 hallmark (90%) Very frequent (99-80%) HP:0007655
13 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
14 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
15 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
16 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
17 hydrocephalus 58 31 frequent (33%) Frequent (79-30%) HP:0000238
18 muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001252
19 widely spaced teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000687
20 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
21 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
22 cerebral cortical atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0002120
23 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
24 sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000407
25 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
26 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
27 joint hyperflexibility 58 31 frequent (33%) Frequent (79-30%) HP:0005692
28 microdontia 58 31 frequent (33%) Frequent (79-30%) HP:0000691
29 coarctation of aorta 58 31 frequent (33%) Frequent (79-30%) HP:0001680
30 ventriculomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002119
31 abnormal cardiac septum morphology 58 31 frequent (33%) Frequent (79-30%) HP:0001671
32 conductive hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000405
33 recurrent infections 58 31 frequent (33%) Frequent (79-30%) HP:0002719
34 hypodontia 58 31 frequent (33%) Frequent (79-30%) HP:0000668
35 obesity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001513
36 seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0001250
37 eeg abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0002353
38 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
39 precocious puberty 58 31 occasional (7.5%) Occasional (29-5%) HP:0000826
40 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
41 renal hypoplasia/aplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008678
42 mask-like facies 58 31 occasional (7.5%) Occasional (29-5%) HP:0000298
43 hip dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002827
44 hypospadias 58 31 occasional (7.5%) Occasional (29-5%) HP:0000047
45 small hand 58 31 occasional (7.5%) Occasional (29-5%) HP:0200055
46 hydronephrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000126
47 preauricular skin tag 58 31 occasional (7.5%) Occasional (29-5%) HP:0000384
48 hypoplasia of penis 58 31 occasional (7.5%) Occasional (29-5%) HP:0008736
49 congenital diaphragmatic hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000776
50 microcornea 58 31 occasional (7.5%) Occasional (29-5%) HP:0000482

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
developmental delay
hypotonia
mental retardation

Head And Neck Eyes:
ptosis
blue sclerae
eversion of lateral third of lower eyelids
sparse eyebrows
long palpebral fissures
more
Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Head:
microcephaly

Hematology:
hemolytic anemia
idiopathic thrombocytopenic purpura

Cardiovascular Vascular:
coarctation of aorta

Genitourinary Ureters:
ureteropelvic junction obstruction

Skin Nails Hair Hair:
hirsutism

Genitourinary Kidneys:
crossed fused renal ectopia
single fused kidneys

Skeletal Limbs:
joint hyperextensibility

Head And Neck Face:
trapezoid philtrum

Skeletal Hands:
short fifth finger
increased digital ulnar loop and hypothenar loop patterns
absent digital triradius c and/or d
persistence of fingerpads

Skeletal Spine:
scoliosis
vertebral anomalies

Abdomen Gastrointestinal:
malabsorption
feeding difficulties
intestinal malrotation
anal stenosis
anoperineal fistula
more
Cardiovascular Heart:
ventricular septal defect
atrial septal defect
congenital heart defect

Head And Neck Mouth:
cleft palate
high-arched palate

Growth Other:
postnatal growth retardation

Head And Neck Ears:
posteriorly rotated ears
preauricular pit
hearing loss
large prominent ears
recurrent otitis media in infancy

Head And Neck Nose:
depressed nasal tip
short nasal columella

Endocrine Features:
congenital hypothyroidism
premature thelarche

Respiratory Lung:
aspiration pneumonia

Genitourinary External Genitalia Male:
small penis

Skeletal Pelvis:
congenital hip dislocations

Skin Nails Hair Skin:
cafe au lait spots

Clinical features from OMIM:

147920

GenomeRNAi Phenotypes related to Kabuki Syndrome 1 according to GeneCards Suite gene sharing:

26 (show all 23)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.8 KDM4C
2 Increased shRNA abundance (Z-score > 2) GR00366-A-133 9.8 RAP1B VILL
3 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.8 KDM4C RAP1B TIMM8A VILL
4 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.8 RAP1B
5 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.8 VILL
6 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.8 RAP1B
7 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.8 VILL
8 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.8 VILL
9 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.8 TIMM8A
10 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.8 KDM4C VILL
11 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.8 TIMM8A
12 Increased shRNA abundance (Z-score > 2) GR00366-A-188 9.8 KDM4C
13 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.8 VILL
14 Increased shRNA abundance (Z-score > 2) GR00366-A-191 9.8 KDM4C RAP1B TIMM8A
15 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.8 RAP1B
16 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.8 VILL
17 Increased shRNA abundance (Z-score > 2) GR00366-A-211 9.8 TIMM8A
18 Increased shRNA abundance (Z-score > 2) GR00366-A-26 9.8 TIMM8A
19 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.8 TIMM8A
20 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.8 RAP1B
21 Increased shRNA abundance (Z-score > 2) GR00366-A-56 9.8 VILL
22 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.8 VILL
23 Increased shRNA abundance (Z-score > 2) GR00366-A-97 9.8 TIMM8A

MGI Mouse Phenotypes related to Kabuki Syndrome 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.96 CASC3 CFH DNMT3B KDM6A KMT2A KMT2B
2 growth/size/body region MP:0005378 9.93 CASC3 CFH DNMT3B HCFC1 KDM4C KDM6A
3 mortality/aging MP:0010768 9.8 CASC3 CFH DNMT3B HCFC1 KDM4C KDM6A
4 neoplasm MP:0002006 9.1 DNMT3B KDM4C KDM6A KMT2A KMT2D SDC1

Drugs & Therapeutics for Kabuki Syndrome 1

Drugs for Kabuki Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved 51-61-6, 62-31-7 681
2
Risperidone Approved, Investigational 106266-06-2 5073
3 Antipsychotic Agents
4 Central Nervous System Depressants
5 Neurotransmitter Agents
6 Tranquilizing Agents
7 Dopamine Agents
8 Psychotropic Drugs
9 Dopamine Antagonists
10 Serotonin Agents
11 Serotonin Antagonists
12
Serotonin Investigational, Nutraceutical 50-67-9 5202

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study on the Mnemic Functioning of Children With Kabuki Syndrome Completed NCT03547609
2 French Kabuki Syndrome Network. Epidemiology, Management of Patients and Research by Array-CGH Completed NCT01314534
3 Actigraphic Analysis of Treatment Response in a Six Year Old Girl With Kabuki Syndrome Completed NCT00723580 risperidone
4 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
5 Exploiting Epigenome Editing in Kabuki Syndrome: a New Route Towards Gene Therapy for Rare Genetic Disorders Active, not recruiting NCT03855631

Search NIH Clinical Center for Kabuki Syndrome 1

Cochrane evidence based reviews: kabuki syndrome

Genetic Tests for Kabuki Syndrome 1

Genetic tests related to Kabuki Syndrome 1:

# Genetic test Affiliating Genes
1 Kabuki Syndrome 1 29 KDM6A KMT2D
2 Kabuki Syndrome 29

Anatomical Context for Kabuki Syndrome 1

MalaCards organs/tissues related to Kabuki Syndrome 1:

40
Heart, T Cells, Eye, B Cells, Lung, Bone, Liver

Publications for Kabuki Syndrome 1

Articles related to Kabuki Syndrome 1:

(show top 50) (show all 428)
# Title Authors PMID Year
1
MLL2 and KDM6A mutations in patients with Kabuki syndrome. 61 56 6
23913813 2013
2
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. 61 56 6
20711175 2010
3
Kabuki syndrome: international consensus diagnostic criteria. 61 24 56
30514738 2019
4
Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development. 61 24 56
25972376 2015
5
A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A. 61 24 6
24664873 2014
6
KDM6A point mutations cause Kabuki syndrome. 61 24 6
23076834 2013
7
How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum. 61 24 56
22126750 2012
8
Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome. 61 24 6
22197486 2012
9
A mutation screen in patients with Kabuki syndrome. 61 24 56
21607748 2011
10
Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome. 61 24 56
21671394 2011
11
Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) syndrome. 24 56
15108197 2004
12
Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients. 24 56
3067577 1988
13
Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients. 61 56
24633898 2014
14
Kabuki Syndrome 61 6
21882399 2011
15
Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan. 61 56
18593871 2008
16
The C20orf133 gene is disrupted in a patient with Kabuki syndrome. 61 56
17586838 2007
17
No major contribution of the TGFBR1- and TGFBR2-mediated pathway to Kabuki syndrome. 61 56
16528739 2006
18
Immune abnormalities are a frequent manifestation of Kabuki syndrome. 61 56
15887282 2005
19
Kabuki syndrome: new ocular findings but no evidence of 8p22-p23.1 duplications in a clinically defined cohort. 61 56
15785777 2005
20
Kabuki syndrome: a review. 61 56
15691356 2005
21
Array based CGH and FISH fail to confirm duplication of 8p22-p23.1 in association with Kabuki syndrome. 61 56
15635075 2005
22
Atypical findings in Kabuki syndrome: report of 8 patients in a series of 20 and review of the literature. 61 56
15266618 2004
23
Coloboma and other ophthalmologic anomalies in Kabuki syndrome: distinction from charge association. 61 56
14608645 2003
24
Unmasking Kabuki syndrome: chromosome 8p22-8p23.1 duplication revealed by comparative genomic hybridization and BAC-FISH. 61 56
14986831 2003
25
Kabuki syndrome: report of six Thai children and further phenotypic and genetic delineation. 61 56
12116214 2002
26
Kabuki syndrome: a review study of three hundred patients. 61 56
12002156 2002
27
Patellar dislocation in Kabuki syndrome. 61 56
11857567 2002
28
Defective clavicles in Kabuki syndrome. 61 56
12558121 2002
29
Clinical phenotypes of nine cases of Kabuki syndrome from New Zealand. 61 56
11665999 2001
30
Biliary atresia and Kabuki syndrome: another case with long-term follow-up. 61 56
11343312 2001
31
Congenital heart defects in Kabuki syndrome. 61 56
11343317 2001
32
Craniofacial and dental characteristics of Kabuki syndrome. 61 56
11223856 2001
33
Unexpected life-threatening complications in Kabuki syndrome. 61 56
10982974 2000
34
Further evidence for autosomal dominant inheritance and ectodermal abnormalities in Kabuki syndrome. 61 56
10925391 2000
35
Biliary atresia in Kabuki syndrome. 61 56
10748418 2000
36
Kabuki syndrome and diaphragmatic defects: a frequent association in non-Asian patients? 61 56
10748421 2000
37
Lower lip pits and anorectal anomalies in Kabuki syndrome. 61 56
10482881 1999
38
Phenotypic spectrum and management issues in Kabuki syndrome. 61 56
10190924 1999
39
Severe congenital anomalies requiring transplantation in children with Kabuki syndrome. 61 56
9856564 1998
40
Ectodermal abnormalities in Kabuki syndrome. 61 56
9415681 1997
41
Kabuki syndrome is not caused by a microdeletion in the DiGeorge/velocardiofacial chromosomal region within 22q 11.2. 61 56
8911598 1996
42
Kabuki syndrome: underdiagnosed recognizable pattern in cleft palate patients. 61 56
7727492 1995
43
Coarctation of the aorta in Kabuki syndrome. 61 56
8048822 1994
44
Correction: "Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals". 61 24
30097611 2019
45
Dissecting KMT2D missense mutations in Kabuki syndrome patients. 61 24
30107592 2018
46
Cancer Management in Kabuki Syndrome: The First Case of Wilms Tumor and a Literature Review. 61 24
29489735 2018
47
Neurobehavioral features in individuals with Kabuki syndrome. 61 24
29536651 2018
48
Expanding the Oro-Dental and Mutational Spectra of Kabuki Syndrome and Expression of KMT2D and KDM6A in Human Tooth Germs. 61 24
29725259 2018
49
Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature. 61 24
29283410 2017
50
Congenital heart defects in molecularly proven Kabuki syndrome patients. 61 24
28884922 2017

Variations for Kabuki Syndrome 1

ClinVar genetic disease variations for Kabuki Syndrome 1:

6 (show top 50) (show all 646) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KMT2D NM_003482.3(KMT2D):c.4237-2A>CSNV Pathogenic 208484 rs797045001 12:49440575-49440575 12:49046792-49046792
2 KMT2D NM_003482.3(KMT2D):c.15079C>T (p.Arg5027Ter)SNV Pathogenic 211319 rs797045659 12:49420670-49420670 12:49026887-49026887
3 KMT2D NM_003482.3(KMT2D):c.11845C>T (p.Gln3949Ter)SNV Pathogenic 211317 rs797045658 12:49426643-49426643 12:49032860-49032860
4 KMT2D NM_003482.3(KMT2D):c.9540del (p.Glu3181fs)deletion Pathogenic 211334 rs797045672 12:49431599-49431599 12:49037816-49037816
5 KMT2D NM_003482.3(KMT2D):c.8445_8475dup (p.Ala2826fs)duplication Pathogenic 211333 rs797045671 12:49432663-49432664 12:49038880-49038881
6 KMT2D NM_003482.3(KMT2D):c.6172del (p.Ala2058fs)deletion Pathogenic 211331 rs797045669 12:49435711-49435711 12:49041928-49041928
7 KMT2D NM_003482.3(KMT2D):c.6171dup (p.Ala2058fs)duplication Pathogenic 211330 rs797045668 12:49435711-49435712 12:49041928-49041929
8 KMT2D NM_003482.3(KMT2D):c.4981dup (p.Glu1661fs)duplication Pathogenic 211329 rs797045667 12:49438287-49438288 12:49044504-49044505
9 KMT2D NM_003482.3(KMT2D):c.3591del (p.Thr1198fs)deletion Pathogenic 211325 rs797045663 12:49443780-49443780 12:49049997-49049997
10 KMT2D NM_003482.3(KMT2D):c.3585dup (p.Pro1196fs)duplication Pathogenic 211324 rs797045662 12:49443785-49443786 12:49050002-49050003
11 KMT2D NM_003482.3(KMT2D):c.2954_2955insT (p.Pro986fs)insertion Pathogenic 211321 rs797045660 12:49444416-49444417 12:49050633-49050634
12 KMT2D NM_003482.3(KMT2D):c.15256C>T (p.Arg5086Ter)SNV Pathogenic 167218 rs727503979 12:49420493-49420493 12:49026710-49026710
13 KMT2D NM_003482.3(KMT2D):c.3754C>T (p.Arg1252Ter)SNV Pathogenic 167228 rs727503987 12:49443617-49443617 12:49049834-49049834
14 KMT2D NM_003482.3(KMT2D):c.256G>T (p.Glu86Ter)SNV Pathogenic 158755 rs587783708 12:49448455-49448455 12:49054672-49054672
15 KMT2D NM_003482.3(KMT2D):c.400+1G>CSNV Pathogenic 158763 rs587783714 12:49448310-49448310 12:49054527-49054527
16 KMT2D NM_003482.3(KMT2D):c.1813G>T (p.Glu605Ter)SNV Pathogenic 158746 rs587783705 12:49445653-49445653 12:49051870-49051870
17 KMT2D NM_003482.3(KMT2D):c.3121C>T (p.Gln1041Ter)SNV Pathogenic 158758 rs587783711 12:49444250-49444250 12:49050467-49050467
18 KMT2D NM_003482.3(KMT2D):c.3553C>T (p.Gln1185Ter)SNV Pathogenic 158759 rs587783712 12:49443818-49443818 12:49050035-49050035
19 KMT2D NM_003482.3(KMT2D):c.3695del (p.Pro1232fs)deletion Pathogenic 158760 rs587783713 12:49443676-49443676 12:49049893-49049893
20 KMT2D NM_003482.3(KMT2D):c.4221del (p.Cys1408fs)deletion Pathogenic 158767 rs587783715 12:49441763-49441763 12:49047980-49047980
21 KMT2D NM_003482.3(KMT2D):c.4739del (p.Pro1580fs)deletion Pathogenic 158771 rs587783719 12:49439705-49439705 12:49045922-49045922
22 KMT2D NM_003482.3(KMT2D):c.6086del (p.Pro2029fs)deletion Pathogenic 158775 rs587783723 12:49435895-49435895 12:49042112-49042112
23 KMT2D NM_003482.3(KMT2D):c.6126C>A (p.Cys2042Ter)SNV Pathogenic 158776 rs556669370 12:49435757-49435757 12:49041974-49041974
24 KMT2D NM_003482.3(KMT2D):c.6670_6674del (p.Gly2224fs)deletion Pathogenic 158778 rs587783725 12:49434879-49434883 12:49041096-49041100
25 KMT2D NM_003482.3(KMT2D):c.11263C>T (p.Gln3755Ter)SNV Pathogenic 158715 rs587783681 12:49427225-49427225 12:49033442-49033442
26 KMT2D NM_003482.3(KMT2D):c.11386del (p.Gln3796fs)deletion Pathogenic 158717 rs587783683 12:49427102-49427102 12:49033319-49033319
27 KMT2D NM_003482.3(KMT2D):c.12592C>T (p.Arg4198Ter)SNV Pathogenic 158722 rs587783685 12:49425896-49425896 12:49032113-49032113
28 KMT2D NM_003482.3(KMT2D):c.12954_12955GA[1] (p.Arg4319fs)short repeat Pathogenic 158725 rs587783687 12:49425531-49425532 12:49031748-49031749
29 KMT2D NM_003482.3(KMT2D):c.12962C>A (p.Ser4321Ter)SNV Pathogenic 158726 rs587783688 12:49425526-49425526 12:49031743-49031743
30 KMT2D NM_003482.3(KMT2D):c.13518del (p.Ser4507fs)deletion Pathogenic 158730 rs587783691 12:49424970-49424970 12:49031187-49031187
31 KMT2D NM_003482.3(KMT2D):c.13606C>T (p.Arg4536Ter)SNV Pathogenic 158731 rs587783692 12:49424741-49424741 12:49030958-49030958
32 KMT2D NM_003482.3(KMT2D):c.13450C>T (p.Arg4484Ter)SNV Pathogenic 158729 rs587783690 12:49425038-49425038 12:49031255-49031255
33 KMT2D NM_003482.3(KMT2D):c.15195G>A (p.Trp5065Ter)SNV Pathogenic 158735 rs587783696 12:49420554-49420554 12:49026771-49026771
34 KMT2D NM_003482.3(KMT2D):c.15791G>A (p.Trp5264Ter)SNV Pathogenic 158738 rs587783697 12:49418723-49418723 12:49024940-49024940
35 KMT2D NM_003482.3(KMT2D):c.15844C>T (p.Arg5282Ter)SNV Pathogenic 158739 rs587783698 12:49418670-49418670 12:49024887-49024887
36 KMT2D NM_003482.3(KMT2D):c.16438_16441del (p.Asn5480fs)deletion Pathogenic 158744 rs587783703 12:49415906-49415909 12:49022123-49022126
37 KMT2D NM_003482.3(KMT2D):c.836dup (p.Cys279fs)duplication Pathogenic 211332 rs797045670 12:49447261-49447262 12:49053478-49053479
38 KMT2D NM_003482.3(KMT2D):c.303del (p.Ser102fs)deletion Pathogenic 211323 rs797045661 12:49448408-49448408 12:49054625-49054625
39 KMT2D NM_003482.3(KMT2D):c.11275C>T (p.Gln3759Ter)SNV Pathogenic 216954 rs863224890 12:49427213-49427213 12:49033430-49033430
40 KMT2D NM_003482.3(KMT2D):c.13579A>T (p.Lys4527Ter)SNV Pathogenic 7537 rs267607240 12:49424768-49424768 12:49030985-49030985
41 KMT2D NM_003482.3(KMT2D):c.16360C>T (p.Arg5454Ter)SNV Pathogenic 7538 rs267607239 12:49416115-49416115 12:49022332-49022332
42 KMT2D NM_003482.3(KMT2D):c.15943C>T (p.Gln5315Ter)SNV Pathogenic 158740 rs587783699 12:49418470-49418470 12:49024687-49024687
43 KMT2D NM_003482.3(KMT2D):c.14710C>T (p.Arg4904Ter)SNV Pathogenic 94176 rs398123721 12:49421039-49421039 12:49027256-49027256
44 KMT2D NM_003482.3(KMT2D):c.5908_5915del (p.Asp1970fs)deletion Pathogenic 94232 rs398123751 12:49436066-49436073 12:49042283-49042290
45 KMT2D NM_003482.3(KMT2D):c.6595del (p.Tyr2199fs)deletion Pathogenic 94239 rs398123753 12:49434958-49434958 12:49041175-49041175
46 KMT2D NM_003482.3(KMT2D):c.13884del (p.Thr4629fs)deletion Pathogenic 267267 rs886040960 12:49424178-49424178 12:49030395-49030395
47 KMT2D NM_003482.3(KMT2D):c.11770C>T (p.Gln3924Ter)SNV Pathogenic 279603 rs886041106 12:49426718-49426718 12:49032935-49032935
48 KMT2D NM_003482.3(KMT2D):c.14075+1G>ASNV Pathogenic 369674 rs1057516039 12:49423183-49423183 12:49029400-49029400
49 KMT2D NM_003482.3(KMT2D):c.11471_11474ACAG[1] (p.Gln3826fs)short repeat Pathogenic 375267 rs1057519067 12:49427010-49427013 12:49033227-49033230
50 KMT2D NM_003482.3(KMT2D):c.466G>T (p.Glu156Ter)SNV Pathogenic 375574 rs1057519422 12:49448134-49448134 12:49054351-49054351

UniProtKB/Swiss-Prot genetic disease variations for Kabuki Syndrome 1:

73 (show all 13)
# Symbol AA change Variation ID SNP ID
1 KMT2D p.Cys5109Phe VAR_063830
2 KMT2D p.Arg5179His VAR_063831 rs267607237
3 KMT2D p.Arg5214His VAR_063832 rs398123729
4 KMT2D p.Arg5340Leu VAR_063833
5 KMT2D p.Thr5464Met VAR_063834 rs267607238
6 KMT2D p.Pro647Gln VAR_074220 rs200088180
7 KMT2D p.Arg5030Cys VAR_074246 rs155518587
8 KMT2D p.Arg5048Cys VAR_074250 rs398123724
9 KMT2D p.Arg5048His VAR_074251 rs886041404
10 KMT2D p.Arg5154Gln VAR_074253 rs886043497
11 KMT2D p.Arg5214Cys VAR_074255
12 KMT2D p.Arg5471Thr VAR_074259
13 KMT2D p.Ser5498Phe VAR_074261

Copy number variations for Kabuki Syndrome 1 from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 150617 20 11900000 17800000 Microdeletion C20orf133 Kabuki syndrome

Expression for Kabuki Syndrome 1

Search GEO for disease gene expression data for Kabuki Syndrome 1.

Pathways for Kabuki Syndrome 1

Pathways related to Kabuki Syndrome 1 according to KEGG:

36
# Name Kegg Source Accession
1 Lysine degradation hsa00310

Pathways related to Kabuki Syndrome 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.07 KMT2D KMT2C KMT2B KMT2A KDM6A KDM4C
2 11.96 KMT2B KMT2A KDM6A HCFC1 DNMT3B
3
Show member pathways
11.71 KMT2D KMT2C KMT2B KMT2A
4 11.63 SDC1 RAP1B RAP1A
5 11.04 KMT2D KMT2C KMT2B KMT2A
6 10.53 RAP1B RAP1A

GO Terms for Kabuki Syndrome 1

Cellular components related to Kabuki Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 MLL3/4 complex GO:0044666 9.13 KMT2D KMT2C KDM6A
2 histone methyltransferase complex GO:0035097 9.1 KMT2D KMT2C KMT2B KMT2A KDM6A KDM4C

Biological processes related to Kabuki Syndrome 1 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 methylation GO:0032259 9.65 KMT2D KMT2C KMT2B KMT2A DNMT3B
2 cellular response to organic cyclic compound GO:0071407 9.61 RAP1B RAP1A HCFC1
3 chromatin organization GO:0006325 9.56 KMT2D KMT2C KMT2B KMT2A KDM6A KDM4C
4 histone H4-K16 acetylation GO:0043984 9.55 KMT2A HCFC1
5 establishment of endothelial barrier GO:0061028 9.54 RAP1B RAP1A
6 microvillus assembly GO:0030033 9.52 RAP1B RAP1A
7 histone H3-K4 trimethylation GO:0080182 9.51 KMT2B KMT2A
8 histone lysine methylation GO:0034968 9.5 KMT2D KMT2C KMT2B
9 positive regulation of histone H3-K4 methylation GO:0051571 9.49 KMT2A DNMT3B
10 response to carbohydrate GO:0009743 9.48 RAP1B RAP1A
11 Rap protein signal transduction GO:0032486 9.46 RAP1B RAP1A
12 regulation of megakaryocyte differentiation GO:0045652 9.46 KMT2D KMT2C KMT2B KMT2A
13 regulation of cell junction assembly GO:1901888 9.4 RAP1B RAP1A
14 negative regulation of synaptic vesicle exocytosis GO:2000301 9.37 RAP1B RAP1A
15 histone H3-K4 methylation GO:0051568 9.02 KMT2D KMT2C KMT2B KMT2A KDM6A

Molecular functions related to Kabuki Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 methyltransferase activity GO:0008168 9.55 KMT2D KMT2C KMT2B KMT2A DNMT3B
2 histone-lysine N-methyltransferase activity GO:0018024 9.26 KMT2D KMT2C KMT2B KMT2A
3 histone methyltransferase activity (H3-K4 specific) GO:0042800 8.92 KMT2D KMT2C KMT2B KMT2A

Sources for Kabuki Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
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43 MeSH
44 MESH via Orphanet
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50 NDF-RT
53 NINDS
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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