KABUK1
MCID: KBK002
MIFTS: 66

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 58 76 30 13 6
Kabuki Syndrome 58 12 77 25 54 26 60 76 38 30 6 45 15
Niikawa-Kuroki Syndrome 58 12 25 54 26 60 76
Kabuki Make-Up Syndrome 58 25 26 60 76
Kms 58 12 54 26 76
Kabuki Make Up Syndrome 12 54
Kabuk1 58 76
Kabuki Make-Up Syndrome; Kms 58
Kabuki Syndrome, Type 1 41
Kabuki Makeup Syndrome 26
Nks 54

Characteristics:

Orphanet epidemiological data:

60
kabuki syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
majority of cases are sporadic
increased susceptibility to infections


HPO:

33
kabuki syndrome 1:
Inheritance autosomal dominant inheritance


GeneReviews:

25
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:



Summaries for Kabuki Syndrome 1

NIH Rare Diseases : 54 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.

MalaCards based summary : Kabuki Syndrome 1, also known as kabuki syndrome, is related to corneal staphyloma and severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative. An important gene associated with Kabuki Syndrome 1 is KMT2D (Lysine Methyltransferase 2D), and among its related pathways/superpathways are Lysine degradation and Developmental Biology. The drugs Risperidone and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include t cells, heart and b cells, and related phenotypes are macrotia and abnormal dermatoglyphics

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.

Genetics Home Reference : 26 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.

OMIM : 58 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)

UniProtKB/Swiss-Prot : 76 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 : 77 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 687)
# Related Disease Score Top Affiliating Genes
1 corneal staphyloma 30.2 KMT2B KMT2D
2 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative 12.6
3 extranodal nasal nk/t cell lymphoma 12.6
4 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive 12.5
5 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency 12.4
6 chronic nk-cell lymphocytosis 12.3
7 nk-cell enteropathy 12.2
8 severe combined immunodeficiency, x-linked 12.1
9 immunodeficiency 19 12.0
10 immunodeficiency 20 11.9
11 severe combined immunodeficiency with sensitivity to ionizing radiation 11.9
12 blastic plasmacytoid dendritic cell 11.9
13 immunodeficiency 21 11.8
14 immunodeficiency 55 11.8
15 hypogonadotropic hypogonadism 1 with or without anosmia 11.8
16 natural killer cell leukemia 11.7
17 immunodeficiency 17 11.7
18 peripheral t-cell lymphoma 11.5
19 immunodeficiency 49 11.3
20 chronic lymphoproliferative disorder of natural killer cells 11.3
21 malignant histiocytosis 11.3
22 polymorphic reticulosis 11.3
23 immunodeficiency 32b 11.3
24 griscelli syndrome 11.3
25 hemangioma-thrombocytopenia syndrome 11.3
26 jak3-deficient severe combined immunodeficiency 11.2
27 kabuki syndrome 2 11.2
28 radiation sensitivity of natural killer activity 11.1
29 severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation 11.1
30 adenosine deaminase deficiency 11.1
31 codas syndrome 11.1
32 hardikar syndrome 11.1
33 reticular dysgenesis 11.1
34 immunodeficiency 56 11.1
35 immunodeficiency 18 11.1
36 immunodeficiency 40 11.1
37 hyper-ige recurrent infection syndrome 3, autosomal recessive 11.1
38 cytogenetically normal acute myeloid leukemia 11.0
39 lymphoproliferative syndrome, x-linked, 2 11.0
40 hemophagocytic lymphohistiocytosis, familial, 4 11.0
41 hemophagocytic lymphohistiocytosis, familial, 2 11.0
42 caspase 8 deficiency 11.0
43 immunodeficiency 54 11.0
44 immunodeficiency 10 11.0
45 immunodeficiency 30 11.0
46 interleukin-7 receptor alpha deficiency 11.0
47 neurotrophic keratopathy 11.0
48 mycosis fungoides 10.6
49 sezary's disease 10.6
50 enteropathy-associated t-cell lymphoma 10.6

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:

60 33 (show top 50) (show all 97)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrotia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000400
2 abnormal dermatoglyphics 60 33 hallmark (90%) Very frequent (99-80%) HP:0007477
3 protruding ear 60 33 hallmark (90%) Very frequent (99-80%) HP:0000411
4 highly arched eyebrow 60 33 hallmark (90%) Very frequent (99-80%) HP:0002553
5 long eyelashes 60 33 hallmark (90%) Very frequent (99-80%) HP:0000527
6 hemivertebrae 60 33 hallmark (90%) Very frequent (99-80%) HP:0002937
7 butterfly vertebrae 60 33 hallmark (90%) Very frequent (99-80%) HP:0003316
8 sparse lateral eyebrow 60 33 hallmark (90%) Very frequent (99-80%) HP:0005338
9 short columella 60 33 hallmark (90%) Very frequent (99-80%) HP:0002000
10 short 5th finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0009237
11 short middle phalanx of finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0005819
12 eversion of lateral third of lower eyelids 60 33 hallmark (90%) Very frequent (99-80%) HP:0007655
13 high palate 60 33 frequent (33%) Frequent (79-30%) HP:0000218
14 hydrocephalus 60 33 frequent (33%) Frequent (79-30%) HP:0000238
15 ptosis 60 33 frequent (33%) Frequent (79-30%) HP:0000508
16 muscular hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001252
17 failure to thrive 60 33 frequent (33%) Frequent (79-30%) HP:0001508
18 scoliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002650
19 widely spaced teeth 60 33 frequent (33%) Frequent (79-30%) HP:0000687
20 microcephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000252
21 sensorineural hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000407
22 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322
23 cleft palate 60 33 frequent (33%) Frequent (79-30%) HP:0000175
24 feeding difficulties 60 33 frequent (33%) Frequent (79-30%) HP:0011968
25 strabismus 60 33 frequent (33%) Frequent (79-30%) HP:0000486
26 joint hyperflexibility 60 33 frequent (33%) Frequent (79-30%) HP:0005692
27 microdontia 60 33 frequent (33%) Frequent (79-30%) HP:0000691
28 coarctation of aorta 60 33 frequent (33%) Frequent (79-30%) HP:0001680
29 ventriculomegaly 60 33 frequent (33%) Frequent (79-30%) HP:0002119
30 cerebral cortical atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0002120
31 conductive hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000405
32 recurrent infections 60 33 frequent (33%) Frequent (79-30%) HP:0002719
33 hypodontia 60 33 frequent (33%) Frequent (79-30%) HP:0000668
34 abnormal cardiac septum morphology 33 frequent (33%) HP:0001671
35 obesity 60 33 occasional (7.5%) Occasional (29-5%) HP:0001513
36 nystagmus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000639
37 precocious puberty 60 33 occasional (7.5%) Occasional (29-5%) HP:0000826
38 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
39 eeg abnormality 60 33 occasional (7.5%) Occasional (29-5%) HP:0002353
40 cryptorchidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000028
41 renal hypoplasia/aplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0008678
42 mask-like facies 60 33 occasional (7.5%) Occasional (29-5%) HP:0000298
43 hip dislocation 60 33 occasional (7.5%) Occasional (29-5%) HP:0002827
44 hypospadias 60 33 occasional (7.5%) Occasional (29-5%) HP:0000047
45 small hand 60 33 occasional (7.5%) Occasional (29-5%) HP:0200055
46 hypoplasia of penis 60 33 occasional (7.5%) Occasional (29-5%) HP:0008736
47 preauricular skin tag 60 33 occasional (7.5%) Occasional (29-5%) HP:0000384
48 microcornea 60 33 occasional (7.5%) Occasional (29-5%) HP:0000482
49 blue sclerae 60 33 occasional (7.5%) Occasional (29-5%) HP:0000592
50 ureteropelvic junction obstruction 60 33 occasional (7.5%) Occasional (29-5%) HP:0000074

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
ptosis
blue sclerae
eversion of lateral third of lower eyelids
sparse eyebrows
long palpebral fissures
more
Skeletal Spine:
scoliosis
vertebral anomalies

Head And Neck Head:
microcephaly

Hematology:
hemolytic anemia
idiopathic thrombocytopenic purpura

Growth Other:
postnatal growth retardation

Cardiovascular Vascular:
coarctation of aorta

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

Skin Nails Hair Hair:
hirsutism

Endocrine Features:
congenital hypothyroidism
premature thelarche

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

Neurologic Central Nervous System:
seizures
developmental delay
hypotonia
mental retardation

Abdomen Gastrointestinal:
malabsorption
feeding difficulties
intestinal malrotation
anal stenosis
imperforate anus
more
Head And Neck Mouth:
cleft palate
high-arched palate

Genitourinary Internal Genitalia Male:
cryptorchidism

Cardiovascular Heart:
atrial septal defect
ventricular septal defect
congenital heart defect

Genitourinary Ureters:
ureteropelvic junction obstruction

Head And Neck Nose:
depressed nasal tip
short nasal columella

Genitourinary Kidneys:
crossed fused renal ectopia
single fused kidneys

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

MGI Mouse Phenotypes related to Kabuki Syndrome 1:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.85 ASH2L DNMT3B HCFC1 KDM6A KMT2A KMT2B
2 mortality/aging MP:0010768 9.73 ASH2L CD300A DNMT3B HCFC1 KDM6A KMT2A
3 nervous system MP:0003631 9.32 CSPG5 DNMT3B KDM6A KMT2A KMT2B KMT2D

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
Risperidone Approved, Investigational Not Applicable 106266-06-2 5073
2
Dopamine Approved Not Applicable 62-31-7, 51-61-6 681
3 Antipsychotic Agents Not Applicable
4 Central Nervous System Depressants Not Applicable
5 Dopamine Antagonists Not Applicable
6 Neurotransmitter Agents Not Applicable
7 Serotonin Antagonists Not Applicable
8 Serotonin Agents Not Applicable
9 Dopamine Agents Not Applicable
10 Psychotropic Drugs Not Applicable
11 Tranquilizing Agents Not Applicable
12
Serotonin Investigational, Nutraceutical Not Applicable 50-67-9 5202

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Exploiting Epigenome Editing in Kabuki Syndrome: a New Route Towards Gene Therapy for Rare Genetic Disorders Active, not recruiting NCT03855631
2 French Kabuki Syndrome Network. Epidemiology, Management of Patients and Research by Array-CGH Completed NCT01314534
3 Assessment of Memory in Children With Kabuki Syndrom Completed NCT03547609 Not Applicable
4 Actigraphic Analysis of Treatment Response Completed NCT00723580 Not Applicable risperidone
5 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

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 30 KDM6A KMT2D
2 Kabuki Syndrome 30

Anatomical Context for Kabuki Syndrome 1

MalaCards organs/tissues related to Kabuki Syndrome 1:

42
T Cells, Heart, B Cells, Eye, Lung, Thyroid, Nk Cells

Publications for Kabuki Syndrome 1

Articles related to Kabuki Syndrome 1:

(show top 50) (show all 272)
# Title Authors Year
1
Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals. ( 29907798 )
2019
2
Correction: "Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals". ( 30097611 )
2019
3
Atypical Autoimmune Hematologic Disorders in a Patient With Kabuki Syndrome. ( 29683950 )
2019
4
A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general population. ( 30459467 )
2019
5
Anatomical and functional abnormalities on MRI in kabuki syndrome. ( 30497982 )
2019
6
Loss of function of Kmt2d, a gene mutated in Kabuki syndrome, affects heart development in Xenopus laevis. ( 30980591 )
2019
7
Bilateral Congenital Corneal Opacities as an Early-Onset Ocular Feature of Kabuki Syndrome. ( 30950893 )
2019
8
Longitudinal Cognitive and Behavioral Presentation of Adult Female with Kabuki Syndrome. ( 30936415 )
2019
9
Genetic and behavioral characterization of a Kmt2d mouse mutant, a new model for Kabuki Syndrome. ( 30891914 )
2019
10
Coarctation of the aorta and left ventricular diverticulum in Kabuki syndrome. ( 30746822 )
2019
11
Congenital Refractory Glaucoma: a New Ophthalmic Association of Kabuki Syndrome and its Management with Glaucoma Drainage Devices. ( 30676414 )
2019
12
Kabuki syndrome: international consensus diagnostic criteria. ( 30514738 )
2019
13
Burkitt lymphoma in a patient with Kabuki syndrome carrying a novel KMT2D mutation. ( 30569626 )
2018
14
Systemic lupus erythematosus: A new autoimmune disorder in Kabuki syndrome. ( 30213761 )
2018
15
Diazoxide Causality Assessment of a Pericardial Effusion in a Child with Kabuki Syndrome ( 30362323 )
2018
16
Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype. ( 29307790 )
2018
17
Identification of novel KMT2D mutations in two Chinese children with Kabuki syndrome: a case report and systematic literature review. ( 29482518 )
2018
18
Cancer Management in Kabuki Syndrome: The First Case of Wilms Tumor and a Literature Review. ( 29489735 )
2018
19
Neurobehavioral features in individuals with Kabuki syndrome. ( 29536651 )
2018
20
Orthodontic Treatment of a Kabuki Syndrome Patient. ( 29589982 )
2018
21
Expanding the Oro-Dental and Mutational Spectra of Kabuki Syndrome and Expression of KMT2D and KDM6A in Human Tooth Germs. ( 29725259 )
2018
22
Cerebral Lymphoproliferation in a Patient with Kabuki Syndrome. ( 29846842 )
2018
23
A de novo KMT2D mutation in a girl with Kabuki syndrome associated with endocrine symptoms: a case report. ( 29914387 )
2018
24
Small molecule inhibition of RAS/MAPK signaling ameliorates developmental pathologies of Kabuki Syndrome. ( 30018450 )
2018
25
Dissecting KMT2D missense mutations in Kabuki syndrome patients. ( 30107592 )
2018
26
Hypermobility in individuals with Kabuki syndrome: The effect of growth hormone treatment. ( 30556359 )
2018
27
Exome sequencing confirms diagnosis of kabuki syndrome in an-adult with hodgkin lymphoma and unusually severe multisystem phenotype. ( 30282051 )
2018
28
Novel KDM6A splice-site mutation in kabuki syndrome with congenital hydrocephalus: a case report. ( 30509212 )
2018
29
Carotid artery occlusion in Kabuki syndrome: Case report and literature review. ( 28607822 )
2017
30
On the significance of craniosynostosis in a case of Kabuki syndrome with a concomitant KMT2D mutation and 3.2 Mbp de novo 10q22.3q23.1 deletion. ( 28590022 )
2017
31
Pilomatricoma Associated with Kabuki Syndrome. ( 27778401 )
2017
32
Characteristics of epilepsy in patients with Kabuki syndrome with KMT2D mutations. ( 28404210 )
2017
33
Coinheritance of Novel Mutations in SCN1A Causing GEFS+ and in KDM6A Causing Kabuki Syndrome in a Family. ( 28442529 )
2017
34
A case of atypical Kabuki syndrome arising from a novel missense variant in HNRNPK. ( 28771707 )
2017
35
Growth Hormone Therapy in Children with Kabuki Syndrome: 1-year Treatment Results. ( 28793284 )
2017
36
Congenital heart defects in molecularly proven Kabuki syndrome patients. ( 28884922 )
2017
37
The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance. ( 28933623 )
2017
38
UTX-guided neural crest function underlies craniofacial features of Kabuki syndrome. ( 29073101 )
2017
39
Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities. ( 29255178 )
2017
40
Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature. ( 29283410 )
2017
41
Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations. ( 28295206 )
2017
42
Interrupted/bipartite clavicle as a diagnostic clue in Kabuki syndrome. ( 28256057 )
2017
43
Refractory ITP in a patient with Kabuki syndrome: response to low-dose rituximab. ( 28138864 )
2017
44
Robotic surgery for atrial septal defect closure in a case of Kabuki syndrome. ( 28106023 )
2017
45
A ketogenic diet rescues hippocampal memory defects in a mouse model of Kabuki syndrome. ( 27999180 )
2017
46
Individual Clinically Diagnosed with CHARGE Syndrome but with a Mutation in KMT2D, a Gene Associated with Kabuki Syndrome: A Case Report. ( 29321794 )
2017
47
An unusual presentation of Kabuki syndrome with orbital cysts, microphthalmia, and cholestasis with bile duct paucity. ( 27530281 )
2016
48
Bronchus-associated Lymphoid Tissue in Kabuki Syndrome with Associated Hyper-IgM Syndrome/Common Variable Immunodeficiency. ( 27275756 )
2016
49
Persistent Hyperinsulinism in Kabuki Syndrome 2: Case Report and Literature Review. ( 27777708 )
2016
50
Coexistence of Kabuki Syndrome and Autoimmune Thyroiditis. ( 26757828 )
2016

Variations for Kabuki Syndrome 1

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

76 (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
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

ClinVar genetic disease variations for Kabuki Syndrome 1:

6 (show top 50) (show all 1232)
# Gene Variation Type Significance SNP ID Assembly Location
1 KMT2D NM_003482.3(KMT2D): c.15536G> A (p.Arg5179His) single nucleotide variant Pathogenic/Likely pathogenic rs267607237 GRCh37 Chromosome 12, 49420213: 49420213
2 KMT2D NM_003482.3(KMT2D): c.15536G> A (p.Arg5179His) single nucleotide variant Pathogenic/Likely pathogenic rs267607237 GRCh38 Chromosome 12, 49026430: 49026430
3 KMT2D NM_003482.3(KMT2D): c.13579A> T (p.Lys4527Ter) single nucleotide variant Pathogenic rs267607240 GRCh37 Chromosome 12, 49424768: 49424768
4 KMT2D NM_003482.3(KMT2D): c.13579A> T (p.Lys4527Ter) single nucleotide variant Pathogenic rs267607240 GRCh38 Chromosome 12, 49030985: 49030985
5 KMT2D NM_003482.3(KMT2D): c.16360C> T (p.Arg5454Ter) single nucleotide variant Pathogenic rs267607239 GRCh37 Chromosome 12, 49416115: 49416115
6 KMT2D NM_003482.3(KMT2D): c.16360C> T (p.Arg5454Ter) single nucleotide variant Pathogenic rs267607239 GRCh38 Chromosome 12, 49022332: 49022332
7 KMT2D NM_003482.3(KMT2D): c.16391C> T (p.Thr5464Met) single nucleotide variant Uncertain significance rs267607238 GRCh37 Chromosome 12, 49416084: 49416084
8 KMT2D NM_003482.3(KMT2D): c.16391C> T (p.Thr5464Met) single nucleotide variant Uncertain significance rs267607238 GRCh38 Chromosome 12, 49022301: 49022301
9 KMT2D NM_003482.3(KMT2D): c.10045A> G (p.Met3349Val) single nucleotide variant Benign/Likely benign rs80149580 GRCh37 Chromosome 12, 49431094: 49431094
10 KMT2D NM_003482.3(KMT2D): c.10045A> G (p.Met3349Val) single nucleotide variant Benign/Likely benign rs80149580 GRCh38 Chromosome 12, 49037311: 49037311
11 KMT2D NM_003482.3(KMT2D): c.10192A> G (p.Met3398Val) single nucleotide variant Benign/Likely benign rs75937132 GRCh37 Chromosome 12, 49430947: 49430947
12 KMT2D NM_003482.3(KMT2D): c.10192A> G (p.Met3398Val) single nucleotide variant Benign/Likely benign rs75937132 GRCh38 Chromosome 12, 49037164: 49037164
13 KMT2D NM_003482.3(KMT2D): c.10256A> G (p.Asp3419Gly) single nucleotide variant Benign/Likely benign rs146044282 GRCh37 Chromosome 12, 49428694: 49428694
14 KMT2D NM_003482.3(KMT2D): c.10256A> G (p.Asp3419Gly) single nucleotide variant Benign/Likely benign rs146044282 GRCh38 Chromosome 12, 49034911: 49034911
15 KMT2D NM_003482.3(KMT2D): c.10623_10629delTCTGTGTinsCGCAAGTCACG (p.Leu3542Alafs) indel Pathogenic rs398123699 GRCh37 Chromosome 12, 49427961: 49427967
16 KMT2D NM_003482.3(KMT2D): c.10623_10629delTCTGTGTinsCGCAAGTCACG (p.Leu3542Alafs) indel Pathogenic rs398123699 GRCh38 Chromosome 12, 49034178: 49034184
17 KMT2D NM_003482.3(KMT2D): c.10671A> G (p.Pro3557=) single nucleotide variant Benign/Likely benign rs61942218 GRCh37 Chromosome 12, 49427919: 49427919
18 KMT2D NM_003482.3(KMT2D): c.10671A> G (p.Pro3557=) single nucleotide variant Benign/Likely benign rs61942218 GRCh38 Chromosome 12, 49034136: 49034136
19 KMT2D NM_003482.3(KMT2D): c.10740G> A (p.Gln3580=) single nucleotide variant Likely pathogenic rs398123700 GRCh37 Chromosome 12, 49427850: 49427850
20 KMT2D NM_003482.3(KMT2D): c.10740G> A (p.Gln3580=) single nucleotide variant Likely pathogenic rs398123700 GRCh38 Chromosome 12, 49034067: 49034067
21 KMT2D NM_003482.3(KMT2D): c.10819C> T (p.Gln3607Ter) single nucleotide variant Pathogenic rs398123701 GRCh37 Chromosome 12, 49427669: 49427669
22 KMT2D NM_003482.3(KMT2D): c.10819C> T (p.Gln3607Ter) single nucleotide variant Pathogenic rs398123701 GRCh38 Chromosome 12, 49033886: 49033886
23 KMT2D NM_003482.3(KMT2D): c.10834C> T (p.Gln3612Ter) single nucleotide variant Pathogenic rs398123702 GRCh37 Chromosome 12, 49427654: 49427654
24 KMT2D NM_003482.3(KMT2D): c.10834C> T (p.Gln3612Ter) single nucleotide variant Pathogenic rs398123702 GRCh38 Chromosome 12, 49033871: 49033871
25 KMT2D NM_003482.3(KMT2D): c.10836G> A (p.Gln3612=) single nucleotide variant Benign rs3782357 GRCh37 Chromosome 12, 49427652: 49427652
26 KMT2D NM_003482.3(KMT2D): c.10836G> A (p.Gln3612=) single nucleotide variant Benign rs3782357 GRCh38 Chromosome 12, 49033869: 49033869
27 KMT2D NM_003482.3(KMT2D): c.11141G> A (p.Arg3714Lys) single nucleotide variant Benign/Likely benign rs186696516 GRCh37 Chromosome 12, 49427347: 49427347
28 KMT2D NM_003482.3(KMT2D): c.11141G> A (p.Arg3714Lys) single nucleotide variant Benign/Likely benign rs186696516 GRCh38 Chromosome 12, 49033564: 49033564
29 KMT2D NM_003482.3(KMT2D): c.11149C> T (p.Gln3717Ter) single nucleotide variant Pathogenic rs398123704 GRCh37 Chromosome 12, 49427339: 49427339
30 KMT2D NM_003482.3(KMT2D): c.11149C> T (p.Gln3717Ter) single nucleotide variant Pathogenic rs398123704 GRCh38 Chromosome 12, 49033556: 49033556
31 KMT2D NM_003482.3(KMT2D): c.11150A> C (p.Gln3717Pro) single nucleotide variant Uncertain significance rs398123705 GRCh37 Chromosome 12, 49427338: 49427338
32 KMT2D NM_003482.3(KMT2D): c.11150A> C (p.Gln3717Pro) single nucleotide variant Uncertain significance rs398123705 GRCh38 Chromosome 12, 49033555: 49033555
33 KMT2D NM_003482.3(KMT2D): c.11201_11202delTG (p.Leu3734Profs) deletion Pathogenic rs398123706 GRCh37 Chromosome 12, 49427286: 49427287
34 KMT2D NM_003482.3(KMT2D): c.11201_11202delTG (p.Leu3734Profs) deletion Pathogenic rs398123706 GRCh38 Chromosome 12, 49033503: 49033504
35 KMT2D NM_003482.3(KMT2D): c.11220_11222dupGCA (p.Gln3745_His3746insGln) duplication Likely benign rs398123707 GRCh37 Chromosome 12, 49427266: 49427268
36 KMT2D NM_003482.3(KMT2D): c.11220_11222dupGCA (p.Gln3745_His3746insGln) duplication Likely benign rs398123707 GRCh38 Chromosome 12, 49033483: 49033485
37 KMT2D NM_003482.3(KMT2D): c.11692C> T (p.Gln3898Ter) single nucleotide variant Pathogenic/Likely pathogenic rs398123708 GRCh37 Chromosome 12, 49426796: 49426796
38 KMT2D NM_003482.3(KMT2D): c.11692C> T (p.Gln3898Ter) single nucleotide variant Pathogenic/Likely pathogenic rs398123708 GRCh38 Chromosome 12, 49033013: 49033013
39 KMT2D NM_003482.3(KMT2D): c.11729_11734delAGCAAC (p.Gln3910_Gln3911del) deletion Conflicting interpretations of pathogenicity rs398123709 GRCh37 Chromosome 12, 49426754: 49426759
40 KMT2D NM_003482.3(KMT2D): c.11729_11734delAGCAAC (p.Gln3910_Gln3911del) deletion Conflicting interpretations of pathogenicity rs398123709 GRCh38 Chromosome 12, 49032971: 49032976
41 KMT2D NM_003482.3(KMT2D): c.1187C> G (p.Pro396Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs377452989 GRCh37 Chromosome 12, 49446418: 49446418
42 KMT2D NM_003482.3(KMT2D): c.1187C> G (p.Pro396Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs377452989 GRCh38 Chromosome 12, 49052635: 49052635
43 KMT2D NM_003482.3(KMT2D): c.12028T> C (p.Ser4010Pro) single nucleotide variant Benign/Likely benign rs80132640 GRCh37 Chromosome 12, 49426460: 49426460
44 KMT2D NM_003482.3(KMT2D): c.12028T> C (p.Ser4010Pro) single nucleotide variant Benign/Likely benign rs80132640 GRCh38 Chromosome 12, 49032677: 49032677
45 KMT2D NM_003482.3(KMT2D): c.12406C> T (p.Gln4136Ter) single nucleotide variant Pathogenic rs398123711 GRCh37 Chromosome 12, 49426082: 49426082
46 KMT2D NM_003482.3(KMT2D): c.12406C> T (p.Gln4136Ter) single nucleotide variant Pathogenic rs398123711 GRCh38 Chromosome 12, 49032299: 49032299
47 KMT2D NM_003482.3(KMT2D): c.12430C> T (p.Gln4144Ter) single nucleotide variant Pathogenic rs398123712 GRCh37 Chromosome 12, 49426058: 49426058
48 KMT2D NM_003482.3(KMT2D): c.12430C> T (p.Gln4144Ter) single nucleotide variant Pathogenic rs398123712 GRCh38 Chromosome 12, 49032275: 49032275
49 KMT2D NM_003482.3(KMT2D): c.12510A> G (p.Pro4170=) single nucleotide variant Benign rs3741622 GRCh37 Chromosome 12, 49425978: 49425978
50 KMT2D NM_003482.3(KMT2D): c.12510A> G (p.Pro4170=) single nucleotide variant Benign rs3741622 GRCh38 Chromosome 12, 49032195: 49032195

Copy number variations for Kabuki Syndrome 1 from CNVD:

7
# CNVD ID Chromosom 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:

38
# 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
13.16 ASH2L KDM6A KMT2D RAP1A RAP1B RBBP5
2
Show member pathways
12.6 ASH2L HCFC1 KDM6A KMT2A KMT2B KMT2D
3 11.63 ASH2L DNMT3B HCFC1 KDM6A KMT2A KMT2B
4
Show member pathways
11.59 ASH2L KMT2A KMT2B KMT2D RBBP5 WDR5
5 11.27 KMT2A KMT2B KMT2D
6 11.07 ASH2L KMT2D RBBP5
7 10.57 RAP1A RAP1B

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 Set1C/COMPASS complex GO:0048188 9.56 ASH2L HCFC1 RBBP5 WDR5
2 MLL1 complex GO:0071339 9.55 ASH2L HCFC1 KMT2A RBBP5 WDR5
3 histone acetyltransferase complex GO:0000123 9.4 HCFC1 WDR5
4 Ada2/Gcn5/Ada3 transcription activator complex GO:0005671 9.37 HCFC1 WDR5
5 MLL3/4 complex GO:0044666 9.35 ASH2L KDM6A KMT2D RBBP5 WDR5
6 histone methyltransferase complex GO:0035097 9.17 ASH2L KDM6A KMT2A KMT2B KMT2D RBBP5
7 nucleoplasm GO:0005654 10.02 ASH2L DNMT3B HCFC1 KDM6A KMT2A KMT2B

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 chromatin organization GO:0006325 9.76 ASH2L HCFC1 KDM6A KMT2A KMT2B KMT2D
2 methylation GO:0032259 9.73 DNMT3B KMT2A KMT2B KMT2D
3 cellular response to organic cyclic compound GO:0071407 9.65 HCFC1 RAP1A RAP1B
4 response to estrogen GO:0043627 9.63 ASH2L KMT2D RBBP5
5 microvillus assembly GO:0030033 9.58 RAP1A RAP1B
6 establishment of endothelial barrier GO:0061028 9.58 RAP1A RAP1B
7 histone H4-K5 acetylation GO:0043981 9.57 HCFC1 WDR5
8 histone H4-K8 acetylation GO:0043982 9.56 HCFC1 WDR5
9 positive regulation of histone H3-K4 methylation GO:0051571 9.55 DNMT3B KMT2A
10 histone H3-K4 trimethylation GO:0080182 9.54 KMT2A KMT2B
11 response to carbohydrate GO:0009743 9.52 RAP1A RAP1B
12 Rap protein signal transduction GO:0032486 9.51 RAP1A RAP1B
13 beta-catenin-TCF complex assembly GO:1904837 9.5 ASH2L KMT2D RBBP5
14 gene silencing GO:0016458 9.49 KMT2B XIST
15 histone H4-K16 acetylation GO:0043984 9.43 HCFC1 KMT2A WDR5
16 regulation of megakaryocyte differentiation GO:0045652 9.43 ASH2L KMT2A KMT2B KMT2D RBBP5 WDR5
17 negative regulation of synaptic vesicle exocytosis GO:2000301 9.4 RAP1A RAP1B
18 regulation of cell junction assembly GO:1901888 9.37 RAP1A RAP1B
19 histone H3-K4 methylation GO:0051568 9.17 ASH2L KDM6A KMT2A KMT2B KMT2D RBBP5

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 9.56 DNMT3B KMT2A KMT2B KMT2D
2 transcription regulatory region DNA binding GO:0044212 9.55 ASH2L KMT2A KMT2D RBBP5 ZBTB24
3 histone acetyltransferase activity (H4-K16 specific) GO:0046972 9.4 HCFC1 WDR5
4 histone acetyltransferase activity (H4-K5 specific) GO:0043995 9.37 HCFC1 WDR5
5 histone acetyltransferase activity (H4-K8 specific) GO:0043996 9.32 HCFC1 WDR5
6 histone-lysine N-methyltransferase activity GO:0018024 9.13 KMT2A KMT2B KMT2D
7 histone methyltransferase activity (H3-K4 specific) GO:0042800 9.1 ASH2L KMT2A KMT2B KMT2D RBBP5 WDR5

Sources for Kabuki Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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