MCID: KBK002
MIFTS: 63

Kabuki Syndrome 1

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

Aliases & Classifications for Kabuki Syndrome 1

MalaCards integrated aliases for Kabuki Syndrome 1:

Name: Kabuki Syndrome 1 57 75 29 13 6
Kabuki Syndrome 57 12 76 24 53 25 59 75 37 29 6 44 15
Niikawa-Kuroki Syndrome 57 12 24 53 25 59 75
Kabuki Make-Up Syndrome 57 24 25 59 75
Kms 57 12 53 25 75
Kabuki Make Up Syndrome 12 53
Kabuk1 57 75
Kabuki Make-Up Syndrome; Kms 57
Kabuki Syndrome, Type 1 40
Kabuki Makeup Syndrome 25
Nks 53

Characteristics:

Orphanet epidemiological data:

59
kabuki syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
majority of cases are sporadic
increased susceptibility to infections


HPO:

32
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:



Summaries for Kabuki Syndrome 1

NIH Rare Diseases : 53 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 extranodal nasal nk/t cell lymphoma 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 Aldosterone synthesis and secretion. The drugs Dopamine and Risperidone have been mentioned in the context of this disorder. Affiliated tissues include heart, eye and kidney, and related phenotypes are obesity and high palate

OMIM : 57 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 : 75 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.

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.

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.

Wikipedia : 76 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 104)
# Related Disease Score Top Affiliating Genes
1 extranodal nasal nk/t cell lymphoma 12.4
2 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative 12.4
3 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive 12.3
4 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency 12.2
5 chronic nk-cell lymphocytosis 12.1
6 nk-cell enteropathy 12.0
7 severe combined immunodeficiency, x-linked 11.9
8 blastic plasmacytoid dendritic cell 11.7
9 hypogonadotropic hypogonadism 1 with or without anosmia 11.6
10 hemangioma-thrombocytopenia syndrome 11.6
11 immunodeficiency 19 11.6
12 natural killer cell leukemia 11.5
13 severe combined immunodeficiency with sensitivity to ionizing radiation 11.5
14 immunodeficiency 20 11.5
15 immunodeficiency 17 11.5
16 immunodeficiency 21 11.5
17 immunodeficiency 55 11.5
18 peripheral t-cell lymphoma 11.3
19 immunodeficiency 49 11.1
20 chronic active epstein-barr virus infection 11.1
21 malignant histiocytosis 11.1
22 jak3-deficient severe combined immunodeficiency 11.0
23 kabuki syndrome 2 11.0
24 radiation sensitivity of natural killer activity 10.9
25 severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation 10.9
26 adenosine deaminase deficiency 10.9
27 reticular dysgenesis 10.9
28 immunodeficiency 56 10.9
29 immunodeficiency 18 10.9
30 immunodeficiency 40 10.9
31 polymorphic reticulosis 10.8
32 cytogenetically normal acute myeloid leukemia 10.8
33 immunodeficiency 32b 10.8
34 lymphoproliferative syndrome, x-linked, 2 10.8
35 hemophagocytic lymphohistiocytosis, familial, 4 10.8
36 hemophagocytic lymphohistiocytosis, familial, 2 10.8
37 caspase 8 deficiency 10.8
38 immunodeficiency 54 10.8
39 immunodeficiency 10 10.8
40 immunodeficiency 30 10.8
41 interleukin-7 receptor alpha deficiency 10.8
42 neurotrophic keratopathy 10.8
43 immunodeficiency-centromeric instability-facial anomalies syndrome 2 10.8 LOC105377935 ZBTB24
44 corneal staphyloma 10.7 KMT2B KMT2D
45 isolated growth hormone deficiency, type iii 10.6 KMT2B KMT2D
46 immunodeficiency-centromeric instability-facial anomalies syndrome 10.6 DNMT3B LOC105377935 ZBTB24
47 lymphoma 10.6
48 central nervous system hemangioma 10.5 RAP1A RAP1B
49 mycosis fungoides 10.4
50 enteropathy-associated t-cell lymphoma 10.4

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



Diseases related to Kabuki Syndrome 1

Symptoms & Phenotypes for Kabuki Syndrome 1

Symptoms via clinical synopsis from OMIM:

57
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 Pelvis:
congenital hip dislocations

Genitourinary External Genitalia Male:
small penis

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

GenitourinaryInternal GenitaliaMale:
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

Skeletal Limbs:
joint hyperextensibility

Head And Neck Face:
trapezoid philtrum

Skin Nails Hair Skin:
cafe au lait spots


Clinical features from OMIM:

147920

Human phenotypes related to Kabuki Syndrome 1:

59 32 (show top 50) (show all 97)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 obesity 59 32 occasional (7.5%) Occasional (29-5%) HP:0001513
2 high palate 59 32 frequent (33%) Frequent (79-30%) HP:0000218
3 hydrocephalus 59 32 frequent (33%) Frequent (79-30%) HP:0000238
4 ptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000508
5 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
6 precocious puberty 59 32 occasional (7.5%) Occasional (29-5%) HP:0000826
7 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
8 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
9 failure to thrive 59 32 frequent (33%) Frequent (79-30%) HP:0001508
10 eeg abnormality 59 32 occasional (7.5%) Occasional (29-5%) HP:0002353
11 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
12 macrotia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000400
13 widely spaced teeth 59 32 frequent (33%) Frequent (79-30%) HP:0000687
14 abnormality of the dentition 59 32 Frequent (79-30%) HP:0000164
15 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
16 sensorineural hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000407
17 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
18 cleft palate 59 32 frequent (33%) Frequent (79-30%) HP:0000175
19 feeding difficulties 59 32 frequent (33%) Frequent (79-30%) HP:0011968
20 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
21 joint hyperflexibility 59 32 frequent (33%) Frequent (79-30%) HP:0005692
22 microdontia 59 32 frequent (33%) Frequent (79-30%) HP:0000691
23 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
24 abnormal dermatoglyphics 59 32 hallmark (90%) Very frequent (99-80%) HP:0007477
25 coarctation of aorta 59 32 frequent (33%) Frequent (79-30%) HP:0001680
26 renal hypoplasia/aplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0008678
27 mask-like facies 59 32 occasional (7.5%) Occasional (29-5%) HP:0000298
28 protruding ear 59 32 hallmark (90%) Very frequent (99-80%) HP:0000411
29 ventriculomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002119
30 cerebral cortical atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0002120
31 hip dislocation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002827
32 hypospadias 59 32 occasional (7.5%) Occasional (29-5%) HP:0000047
33 small hand 59 32 occasional (7.5%) Occasional (29-5%) HP:0200055
34 conductive hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000405
35 recurrent infections 59 32 frequent (33%) Frequent (79-30%) HP:0002719
36 hypoplasia of penis 59 32 occasional (7.5%) Occasional (29-5%) HP:0008736
37 hypodontia 59 32 frequent (33%) Frequent (79-30%) HP:0000668
38 highly arched eyebrow 59 32 hallmark (90%) Very frequent (99-80%) HP:0002553
39 long eyelashes 59 32 hallmark (90%) Very frequent (99-80%) HP:0000527
40 hemivertebrae 59 32 hallmark (90%) Very frequent (99-80%) HP:0002937
41 preauricular skin tag 59 32 occasional (7.5%) Occasional (29-5%) HP:0000384
42 microcornea 59 32 occasional (7.5%) Occasional (29-5%) HP:0000482
43 blue sclerae 59 32 occasional (7.5%) Occasional (29-5%) HP:0000592
44 ureteropelvic junction obstruction 59 32 occasional (7.5%) Occasional (29-5%) HP:0000074
45 hydronephrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000126
46 butterfly vertebrae 59 32 hallmark (90%) Very frequent (99-80%) HP:0003316
47 sparse lateral eyebrow 59 32 hallmark (90%) Very frequent (99-80%) HP:0005338
48 congenital diaphragmatic hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000776
49 short columella 59 32 hallmark (90%) Very frequent (99-80%) HP:0002000
50 coloboma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000589

MGI Mouse Phenotypes related to Kabuki Syndrome 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 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
Dopamine Approved Not Applicable 51-61-6, 62-31-7 681
2
Risperidone Approved, Investigational Not Applicable 106266-06-2 5073
3 Antipsychotic Agents Not Applicable
4 Central Nervous System Depressants Not Applicable
5 Dopamine Agents Not Applicable
6 Dopamine Antagonists Not Applicable
7 Neurotransmitter Agents Not Applicable
8 Psychotropic Drugs Not Applicable
9 Serotonin Agents Not Applicable
10 Serotonin Antagonists 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 French Kabuki Syndrome Network. Epidemiology, Management of Patients and Research by Array-CGH Completed NCT01314534
2 Actigraphic Analysis of Treatment Response Completed NCT00723580 Not Applicable risperidone
3 Assessment of Memory in Children With Kabuki Syndrom Recruiting NCT03547609 Not Applicable
4 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 29 KDM6A KMT2D
2 Kabuki Syndrome 29

Anatomical Context for Kabuki Syndrome 1

MalaCards organs/tissues related to Kabuki Syndrome 1:

41
Heart, Eye, Kidney, Skin, Brain, Testes, Pituitary

Publications for Kabuki Syndrome 1

Articles related to Kabuki Syndrome 1:

(show top 50) (show all 226)
# Title Authors Year
1
Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals. ( 29907798 )
2018
2
Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype. ( 29307790 )
2018
3
On the significance of craniosynostosis in a case of Kabuki syndrome with a concomitant KMT2D mutation and 3.2a88Mbp de novo 10q22.3q23.1 deletion. ( 28590022 )
2017
4
Interrupted/bipartite clavicle as a diagnostic clue in Kabuki syndrome. ( 28256057 )
2017
5
CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions. ( 28475860 )
2017
6
Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities. ( 29255178 )
2017
7
Hyperinsulinemic hypoglycemia in Beckwith-Wiedemann, Sotos, and Kabuki syndromes: A nationwide survey in Japan. ( 28102591 )
2017
8
Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations. ( 28295206 )
2017
9
Individual Clinically Diagnosed with CHARGE Syndrome but with a Mutation in<i>KMT2D</i>, a Gene Associated with Kabuki Syndrome: A Case Report. ( 29321794 )
2017
10
Coinheritance of Novel Mutations in <i>SCN1A</i> Causing GEFS+ and in <i>KDM6A</i> Causing Kabuki Syndrome in a Family. ( 28442529 )
2017
11
Carotid artery occlusion in Kabuki syndrome: Case report and literature review. ( 28607822 )
2017
12
Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring. ( 26841933 )
2016
13
A Child with Kabuki Syndrome and Autism Spectrum Disorder. ( 28373809 )
2016
14
Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome. ( 26194542 )
2016
15
Recurrent giant cell fibroblastoma: Malignancy predisposition in Kabuki syndrome revisited. ( 26898171 )
2016
16
Persistent Hyperinsulinism in Kabuki Syndrome 2: Case Report and Literature Review. ( 27777708 )
2016
17
A novel KMT2D mutation resulting in Kabuki syndrome: A case report. ( 27573763 )
2016
18
An unusual presentation of Kabuki syndrome with orbital cysts, microphthalmia, and cholestasis with bile duct paucity. ( 27530281 )
2016
19
Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2. ( 27302555 )
2016
20
De novo exonic deletion of KDM6A in a Chinese girl with Kabuki syndrome: A case report and brief literature review. ( 27028180 )
2016
21
Growth pattern in Kabuki syndrome with a KMT2D mutation. ( 27530205 )
2016
22
Coexistence of Kabuki Syndrome and Autoimmune Thyroiditis. ( 26757828 )
2016
23
Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development. ( 25972376 )
2015
24
Neonatal case of novel KMT2D mutation in Kabuki syndrome with severe hypoglycemia. ( 25944076 )
2015
25
Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations. ( 25896430 )
2015
26
Spinal ependymoma in a patient with Kabuki syndrome: a case report. ( 26341229 )
2015
27
RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome. ( 26280580 )
2015
28
Kabuki syndrome: clinical and molecular characteristics. ( 26512256 )
2015
29
Emanuel syndrome: A rare disorder that is often confused with Kabuki syndrome. ( 26167235 )
2015
30
Autism spectrum disorder in Kabuki syndrome: clinical, diagnostic and rehabilitative aspects assessed through the presentation of three cases. ( 26129805 )
2015
31
Kabuki syndrome: expanding the phenotype to include microphthalmia and anophthalmia. ( 26049589 )
2015
32
Speech and language in a genotyped cohort of individuals with Kabuki syndrome. ( 25755104 )
2015
33
Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2). ( 24527667 )
2014
34
Rare ocular features in a case of Kabuki syndrome (Niikawa-Kuroki syndrome). ( 25421742 )
2014
35
De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome. ( 24838796 )
2014
36
CHARGE and Kabuki syndromes: a phenotypic and molecular link. ( 24705355 )
2014
37
Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients. ( 24633898 )
2014
38
Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome. ( 24739679 )
2014
39
Kabuki syndrome: clinical and molecular diagnosis in the first year of life. ( 25281733 )
2014
40
Kabuki syndrome and HDAC inhibitors. ( 25352104 )
2014
41
Immunologic assessment and KMT2D mutation detection in Kabuki syndrome. ( 25142838 )
2014
42
An unusual presentation of Kabuki syndrome: clinical overlap with CHARGE syndrome. ( 24862881 )
2014
43
Opitz Award winners focus on hemihyperplasia, Kabuki syndrome: winning papers detail array testing for hemihyperplasia, genotype-phenotype differences in KS. ( 25224374 )
2014
44
Histone deacetylase inhibition rescues structural and functional brain deficits in a mouse model of Kabuki syndrome. ( 25273096 )
2014
45
A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A. ( 24664873 )
2014
46
Acute myocardial infarction in Kabuki syndrome: chance occurrence or a novel risk factor for premature atherosclerosis? ( 25065336 )
2014
47
Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene. ( 24472332 )
2014
48
Autoimmune haematological disorders in two Italian children with Kabuki syndrome. ( 24460868 )
2014
49
Anesthesia management in a patient with kabuki syndrome. ( 25568573 )
2014
50
Hypoglycemia in Kabuki syndrome. ( 24311525 )
2014

Variations for Kabuki Syndrome 1

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

75 (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 778)
# Gene Variation Type Significance SNP ID Assembly Location
1 KMT2D NM_003482.3(KMT2D): c.15536G> A (p.Arg5179His) single nucleotide variant Pathogenic rs267607237 GRCh37 Chromosome 12, 49420213: 49420213
2 KMT2D NM_003482.3(KMT2D): c.15536G> A (p.Arg5179His) single nucleotide variant 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.10623_10629delTCTGTGTinsCGCAAGTCACG (p.Leu3542Alafs) indel Pathogenic rs398123699 GRCh37 Chromosome 12, 49427961: 49427967
8 KMT2D NM_003482.3(KMT2D): c.10623_10629delTCTGTGTinsCGCAAGTCACG (p.Leu3542Alafs) indel Pathogenic rs398123699 GRCh38 Chromosome 12, 49034178: 49034184
9 KMT2D NM_003482.3(KMT2D): c.10740G> A (p.Gln3580=) single nucleotide variant Likely pathogenic rs398123700 GRCh37 Chromosome 12, 49427850: 49427850
10 KMT2D NM_003482.3(KMT2D): c.10740G> A (p.Gln3580=) single nucleotide variant Likely pathogenic rs398123700 GRCh38 Chromosome 12, 49034067: 49034067
11 KMT2D NM_003482.3(KMT2D): c.10819C> T (p.Gln3607Ter) single nucleotide variant Pathogenic rs398123701 GRCh37 Chromosome 12, 49427669: 49427669
12 KMT2D NM_003482.3(KMT2D): c.10819C> T (p.Gln3607Ter) single nucleotide variant Pathogenic rs398123701 GRCh38 Chromosome 12, 49033886: 49033886
13 KMT2D NM_003482.3(KMT2D): c.10834C> T (p.Gln3612Ter) single nucleotide variant Pathogenic rs398123702 GRCh37 Chromosome 12, 49427654: 49427654
14 KMT2D NM_003482.3(KMT2D): c.10834C> T (p.Gln3612Ter) single nucleotide variant Pathogenic rs398123702 GRCh38 Chromosome 12, 49033871: 49033871
15 KMT2D NM_003482.3(KMT2D): c.11149C> T (p.Gln3717Ter) single nucleotide variant Pathogenic rs398123704 GRCh37 Chromosome 12, 49427339: 49427339
16 KMT2D NM_003482.3(KMT2D): c.11149C> T (p.Gln3717Ter) single nucleotide variant Pathogenic rs398123704 GRCh38 Chromosome 12, 49033556: 49033556
17 KMT2D NM_003482.3(KMT2D): c.11201_11202delTG (p.Leu3734Profs) deletion Pathogenic rs398123706 GRCh37 Chromosome 12, 49427286: 49427287
18 KMT2D NM_003482.3(KMT2D): c.11201_11202delTG (p.Leu3734Profs) deletion Pathogenic rs398123706 GRCh38 Chromosome 12, 49033503: 49033504
19 KMT2D NM_003482.3(KMT2D): c.11692C> T (p.Gln3898Ter) single nucleotide variant Pathogenic rs398123708 GRCh37 Chromosome 12, 49426796: 49426796
20 KMT2D NM_003482.3(KMT2D): c.11692C> T (p.Gln3898Ter) single nucleotide variant Pathogenic rs398123708 GRCh38 Chromosome 12, 49033013: 49033013
21 KMT2D NM_003482.3(KMT2D): c.12406C> T (p.Gln4136Ter) single nucleotide variant Pathogenic rs398123711 GRCh37 Chromosome 12, 49426082: 49426082
22 KMT2D NM_003482.3(KMT2D): c.12406C> T (p.Gln4136Ter) single nucleotide variant Pathogenic rs398123711 GRCh38 Chromosome 12, 49032299: 49032299
23 KMT2D NM_003482.3(KMT2D): c.12430C> T (p.Gln4144Ter) single nucleotide variant Pathogenic rs398123712 GRCh37 Chromosome 12, 49426058: 49426058
24 KMT2D NM_003482.3(KMT2D): c.12430C> T (p.Gln4144Ter) single nucleotide variant Pathogenic rs398123712 GRCh38 Chromosome 12, 49032275: 49032275
25 KMT2D NM_003482.3(KMT2D): c.1300dupC (p.Leu434Profs) duplication Pathogenic rs398123715 GRCh37 Chromosome 12, 49446166: 49446166
26 KMT2D NM_003482.3(KMT2D): c.1300dupC (p.Leu434Profs) duplication Pathogenic rs398123715 GRCh38 Chromosome 12, 49052383: 49052383
27 KMT2D NM_003482.3(KMT2D): c.13032delC (p.Lys4345Asnfs) deletion Pathogenic rs398123716 GRCh37 Chromosome 12, 49425456: 49425456
28 KMT2D NM_003482.3(KMT2D): c.13032delC (p.Lys4345Asnfs) deletion Pathogenic rs398123716 GRCh38 Chromosome 12, 49031673: 49031673
29 KMT2D NM_003482.3(KMT2D): c.14580dupT (p.Asp4861Terfs) duplication Pathogenic rs398123720 GRCh37 Chromosome 12, 49421649: 49421649
30 KMT2D NM_003482.3(KMT2D): c.14580dupT (p.Asp4861Terfs) duplication Pathogenic rs398123720 GRCh38 Chromosome 12, 49027866: 49027866
31 KMT2D NM_003482.3(KMT2D): c.14710C> T (p.Arg4904Ter) single nucleotide variant Pathogenic rs398123721 GRCh37 Chromosome 12, 49421039: 49421039
32 KMT2D NM_003482.3(KMT2D): c.14710C> T (p.Arg4904Ter) single nucleotide variant Pathogenic rs398123721 GRCh38 Chromosome 12, 49027256: 49027256
33 KMT2D NM_003482.3(KMT2D): c.15030dupA (p.Glu5011Argfs) duplication Pathogenic rs398123722 GRCh37 Chromosome 12, 49420719: 49420719
34 KMT2D NM_003482.3(KMT2D): c.15030dupA (p.Glu5011Argfs) duplication Pathogenic rs398123722 GRCh38 Chromosome 12, 49026936: 49026936
35 KMT2D NM_003482.3(KMT2D): c.15104G> C (p.Cys5035Ser) single nucleotide variant Likely pathogenic rs398123723 GRCh37 Chromosome 12, 49420645: 49420645
36 KMT2D NM_003482.3(KMT2D): c.15104G> C (p.Cys5035Ser) single nucleotide variant Likely pathogenic rs398123723 GRCh38 Chromosome 12, 49026862: 49026862
37 KMT2D NM_003482.3(KMT2D): c.15641G> A (p.Arg5214His) single nucleotide variant Likely pathogenic rs398123729 GRCh37 Chromosome 12, 49420108: 49420108
38 KMT2D NM_003482.3(KMT2D): c.15641G> A (p.Arg5214His) single nucleotide variant Likely pathogenic rs398123729 GRCh38 Chromosome 12, 49026325: 49026325
39 KMT2D NM_003482.3(KMT2D): c.15953_15956delTATT (p.Leu5318Serfs) deletion Pathogenic rs398123732 GRCh37 Chromosome 12, 49418457: 49418460
40 KMT2D NM_003482.3(KMT2D): c.15953_15956delTATT (p.Leu5318Serfs) deletion Pathogenic rs398123732 GRCh38 Chromosome 12, 49024674: 49024677
41 KMT2D NM_003482.3(KMT2D): c.16109delG (p.Gly5370Alafs) deletion Pathogenic rs398123733 GRCh37 Chromosome 12, 49416602: 49416602
42 KMT2D NM_003482.3(KMT2D): c.16109delG (p.Gly5370Alafs) deletion Pathogenic rs398123733 GRCh38 Chromosome 12, 49022819: 49022819
43 KMT2D NM_003482.3(KMT2D): c.16306_16322del17insC (p.Ala5436Glnfs) indel Pathogenic rs398123735 GRCh37 Chromosome 12, 49416389: 49416405
44 KMT2D NM_003482.3(KMT2D): c.16306_16322del17insC (p.Ala5436Glnfs) indel Pathogenic rs398123735 GRCh38 Chromosome 12, 49022606: 49022622
45 KMT2D NM_003482.3(KMT2D): c.3532C> T (p.Gln1178Ter) single nucleotide variant Pathogenic rs398123741 GRCh37 Chromosome 12, 49443839: 49443839
46 KMT2D NM_003482.3(KMT2D): c.3532C> T (p.Gln1178Ter) single nucleotide variant Pathogenic rs398123741 GRCh38 Chromosome 12, 49050056: 49050056
47 KMT2D NM_003482.3(KMT2D): c.3834_3846delTATCAGCGGAGGC (p.Ile1279Lysfs) deletion Pathogenic rs398123743 GRCh37 Chromosome 12, 49443525: 49443537
48 KMT2D NM_003482.3(KMT2D): c.3834_3846delTATCAGCGGAGGC (p.Ile1279Lysfs) deletion Pathogenic rs398123743 GRCh38 Chromosome 12, 49049742: 49049754
49 KMT2D NM_003482.3(KMT2D): c.4135_4136delAT (p.Met1379Valfs) deletion Pathogenic rs398123744 GRCh37 Chromosome 12, 49441848: 49441849
50 KMT2D NM_003482.3(KMT2D): c.4135_4136delAT (p.Met1379Valfs) deletion Pathogenic rs398123744 GRCh38 Chromosome 12, 49048065: 49048066

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:

37
# Name Kegg Source Accession
1 Lysine degradation hsa00310

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 9.35 ASH2L KDM6A KMT2D RBBP5 UTY
2 MLL1 complex GO:0071339 9.33 ASH2L KMT2A RBBP5
3 Set1C/COMPASS complex GO:0048188 9.26 ASH2L RBBP5
4 histone methyltransferase complex GO:0035097 9.1 ASH2L KDM6A KMT2A KMT2B KMT2D RBBP5

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 regulation of gene expression GO:0010468 9.81 DNMT3B KDM6A KMT2A UTY
2 chromatin organization GO:0006325 9.7 ASH2L KDM6A KMT2A KMT2B KMT2D RBBP5
3 methylation GO:0032259 9.65 DNMT3B KMT2A KMT2B KMT2D NOP2
4 response to estrogen GO:0043627 9.63 ASH2L KMT2D RBBP5
5 DNA methylation GO:0006306 9.58 DNMT3B KMT2A
6 microvillus assembly GO:0030033 9.57 RAP1A RAP1B
7 positive regulation of histone H3-K4 methylation GO:0051571 9.56 DNMT3B KMT2A
8 establishment of endothelial barrier GO:0061028 9.55 RAP1A RAP1B
9 histone H3-K4 trimethylation GO:0080182 9.54 KMT2A KMT2B
10 beta-catenin-TCF complex assembly GO:1904837 9.54 ASH2L KMT2D RBBP5
11 response to carbohydrate GO:0009743 9.52 RAP1A RAP1B
12 Rap protein signal transduction GO:0032486 9.49 RAP1A RAP1B
13 regulation of histone H3-K4 methylation GO:0051569 9.48 KMT2A KMT2B
14 negative regulation of synaptic vesicle exocytosis GO:2000301 9.43 RAP1A RAP1B
15 histone H3-K27 demethylation GO:0071557 9.4 KDM6A UTY
16 regulation of megakaryocyte differentiation GO:0045652 9.35 ASH2L KMT2A KMT2B KMT2D RBBP5
17 regulation of cell junction assembly GO:1901888 9.32 RAP1A RAP1B
18 histone H3-K4 methylation GO:0051568 9.1 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 transcription regulatory region DNA binding GO:0044212 9.62 ASH2L KMT2A KMT2D RBBP5
2 methyltransferase activity GO:0008168 9.55 DNMT3B KMT2A KMT2B KMT2D NOP2
3 histone demethylase activity GO:0032452 9.4 KDM6A UTY
4 transcriptional activator activity, RNA polymerase II transcription factor binding GO:0001190 9.37 KDM6A UTY
5 histone-lysine N-methyltransferase activity GO:0018024 9.35 ASH2L KMT2A KMT2B KMT2D RBBP5
6 histone demethylase activity (H3-K27 specific) GO:0071558 9.26 KDM6A UTY
7 histone methyltransferase activity (H3-K4 specific) GO:0042800 9.02 ASH2L KMT2A KMT2B KMT2D RBBP5

Sources for Kabuki Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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