MCID: KBK002
MIFTS: 54

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 54 71 29 13
Kabuki Syndrome 12 23 50 24 25 56 71 29 42 14
Niikawa-Kuroki Syndrome 12 23 50 24 25 56 71
Kabuki Make-Up Syndrome 23 24 25 56 71
Kms 12 50 25 71
Kabuki Make Up Syndrome 12 50
Kabuki Makeup Syndrome 25
Kabuk1 71
Nks 50

Characteristics:

Orphanet epidemiological data:

56
kabuki syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
majority of cases are sporadic
increased susceptibility to infections


HPO:

32
kabuki syndrome 1:
Inheritance autosomal dominant inheritance


GeneReviews:

23
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 : 50 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. last updated: 2/8/2016

MalaCards based summary : Kabuki Syndrome 1, also known as kabuki syndrome, is related to kabuki syndrome 2 and extranodal nasal nk/t cell lymphoma, and has symptoms including short stature, failure to thrive and scoliosis. An important gene associated with Kabuki Syndrome 1 is KMT2D (Lysine Methyltransferase 2D), and among its related pathways/superpathways are Developmental Biology and Chromatin organization. The drugs Dopamine and Risperidone have been mentioned in the context of this disorder. Affiliated tissues include heart, eye and kidney, and related phenotype is nervous system.

UniProtKB/Swiss-Prot : 71 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.

OMIM : 54
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)

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 : 72 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 Kdm6a-Related Kabuki Syndrome
Kmt2d-Related Kabuki Syndrome

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

(show top 50) (show all 130)
id Related Disease Score Top Affiliating Genes
1 kabuki syndrome 2 12.3
2 extranodal nasal nk/t cell lymphoma 12.2
3 chronic nk-cell lymphocytosis 11.9
4 kdm6a-related kabuki syndrome 11.8
5 kmt2d-related kabuki syndrome 11.8
6 nk-cell enteropathy 11.8
7 severe combined immunodeficiency, b cell-negative 11.8
8 severe combined immune deficiency, autosomal recessive t cell-negative, b cell-positive, nk cell-positive, il7r-related 11.7
9 severe combined immune deficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative, jak3-related 11.7
10 severe combined immune deficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive, cd3d-related 11.7
11 severe combined immune deficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive, cd3e-related 11.7
12 severe combined immune deficiency, autosomal recessive t cell-negative, b cell-positive, nk cell-positive, ptprc-related 11.7
13 severe combined immune deficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive, rag1/rag2-related 11.7
14 blastic plasmacytoid dendritic cell 11.6
15 severe combined immunodeficiency, x-linked 11.5
16 severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive 11.5
17 scid, autosomal recessive, t-negative/b-positive type 11.5
18 hypogonadotropic hypogonadism 1 with or without anosmia 11.5
19 immunodeficiency 19 11.4
20 immunodeficiency 20 11.4
21 severe combined immunodeficiency due to ada deficiency 11.4
22 severe combined immunodeficiency, athabascan type 11.4
23 natural killer cell leukemia 11.4
24 immunodeficiency 21 11.3
25 immunodeficiency 17, cd3 gamma deficient 11.3
26 chronic active epstein-barr virus infection 11.0
27 jak3-deficient severe combined immunodeficiency 10.9
28 immunodeficiency 49 10.9
29 immunodeficiency 40 10.8
30 reticular dysgenesis 10.8
31 immunodeficiency 18 10.8
32 immunodeficiency, primary, autosomal recessive, il21r-related 10.8
33 hemangioma-thrombocytopenia syndrome 10.8
34 codas syndrome 10.8
35 hardikar syndrome 10.8
36 severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation 10.8
37 adenosine deaminase deficiency 10.8
38 neurotrophic keratopathy 10.7
39 hemophagocytic lymphohistiocytosis, familial, 4 10.7
40 natural killer cell and glucocorticoid deficiency with dna repair defect 10.7
41 hemophagocytic lymphohistiocytosis, familial, 2 10.7
42 immunodeficiency 10 10.7
43 interleukin-7 receptor alpha deficiency 10.7
44 autoimmune lymphoproliferative syndrome, type iib 10.7
45 polymorphic reticulosis 10.7
46 cytogenetically normal acute myeloid leukemia 10.7
47 brain stem ependymoma 10.6 KDM6A KMT2D
48 lymphoma 10.5
49 cicatricial ectropion 10.5 KMT2B KMT2D
50 peripheral 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:

54

Head And Neck- Mouth:
high-arched palate
cleft palate

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

Head And Neck- Eyes:
ptosis
sparse eyebrows
long palpebral fissures
blue sclerae
eversion of lateral third of lower eyelids
more
Head And Neck- Ears:
hearing loss
posteriorly rotated ears
preauricular pit
large prominent ears
recurrent otitis media in infancy

Genitourinary- Internal Genitalia Male:
cryptorchidism

Hematology:
hemolytic anemia
idiopathic thrombocytopenic purpura

Genitourinary- Ureters:
ureteropelvic junction obstruction

Growth- Other:
postnatal growth retardation

Head And Neck- Nose:
depressed nasal tip
short nasal columella

Skeletal- Limbs:
joint hyperextensibility

Endocrine Features:
congenital hypothyroidism
premature thelarche

Head And Neck- Face:
trapezoid philtrum

Skeletal- Spine:
scoliosis
vertebral anomalies

Skin Nails & Hair- Hair:
hirsutism

Head And Neck- Head:
microcephaly

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

Cardiovascular- Vascular:
coarctation of aorta

Abdomen- Gastroin testinal:
malabsorption
feeding difficulties
intestinal malrotation
imperforate anus
anal stenosis
more
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

Respiratory- Lung:
aspiration pneumonia

Skin Nails & Hair- Skin:
cafe au lait spots

Skeletal- Pelvis:
congenital hip dislocations

Genitourinary- Kidneys:
crossed fused renal ectopia
single fused kidneys


Clinical features from OMIM:

147920

Human phenotypes related to Kabuki Syndrome 1:

56 32 (show top 50) (show all 95)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 frequent (33%) Frequent (79-30%) HP:0004322
2 failure to thrive 56 32 frequent (33%) Frequent (79-30%) HP:0001508
3 scoliosis 56 32 frequent (33%) Frequent (79-30%) HP:0002650
4 long eyelashes 56 32 hallmark (90%) Very frequent (99-80%) HP:0000527
5 nystagmus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000639
6 recurrent infections 56 32 frequent (33%) Frequent (79-30%) HP:0002719
7 strabismus 56 32 frequent (33%) Frequent (79-30%) HP:0000486
8 ventriculomegaly 56 32 frequent (33%) Frequent (79-30%) HP:0002119
9 seizures 56 32 occasional (7.5%) Occasional (29-5%) HP:0001250
10 ptosis 56 32 frequent (33%) Frequent (79-30%) HP:0000508
11 microcephaly 56 32 frequent (33%) Frequent (79-30%) HP:0000252
12 hydrocephalus 56 32 frequent (33%) Frequent (79-30%) HP:0000238
13 cleft palate 56 32 frequent (33%) Frequent (79-30%) HP:0000175
14 hypospadias 56 32 occasional (7.5%) Occasional (29-5%) HP:0000047
15 coloboma 56 32 occasional (7.5%) Occasional (29-5%) HP:0000589
16 hip dislocation 56 32 occasional (7.5%) Occasional (29-5%) HP:0002827
17 hydronephrosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000126
18 microcornea 56 32 occasional (7.5%) Occasional (29-5%) HP:0000482
19 cryptorchidism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000028
20 hemivertebrae 56 32 hallmark (90%) Very frequent (99-80%) HP:0002937
21 cerebral cortical atrophy 56 32 frequent (33%) Frequent (79-30%) HP:0002120
22 coarctation of aorta 56 32 frequent (33%) Frequent (79-30%) HP:0001680
23 hypodontia 56 32 frequent (33%) Frequent (79-30%) HP:0000668
24 feeding difficulties 56 32 frequent (33%) Frequent (79-30%) HP:0011968
25 short columella 56 32 hallmark (90%) Very frequent (99-80%) HP:0002000
26 ureteropelvic junction obstruction 56 32 occasional (7.5%) Occasional (29-5%) HP:0000074
27 high palate 56 32 frequent (33%) Frequent (79-30%) HP:0000218
28 joint hyperflexibility 56 32 frequent (33%) Frequent (79-30%) HP:0005692
29 widely spaced teeth 56 32 frequent (33%) Frequent (79-30%) HP:0000687
30 obesity 56 32 occasional (7.5%) Occasional (29-5%) HP:0001513
31 muscular hypotonia 56 32 frequent (33%) Frequent (79-30%) HP:0001252
32 microdontia 56 32 frequent (33%) Frequent (79-30%) HP:0000691
33 sensorineural hearing impairment 56 32 frequent (33%) Frequent (79-30%) HP:0000407
34 blue sclerae 56 32 occasional (7.5%) Occasional (29-5%) HP:0000592
35 duplicated collecting system 56 32 occasional (7.5%) Occasional (29-5%) HP:0000081
36 preauricular skin tag 56 32 occasional (7.5%) Occasional (29-5%) HP:0000384
37 butterfly vertebrae 56 32 hallmark (90%) Very frequent (99-80%) HP:0003316
38 precocious puberty 56 32 occasional (7.5%) Occasional (29-5%) HP:0000826
39 congenital diaphragmatic hernia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000776
40 mask-like facies 56 32 occasional (7.5%) Occasional (29-5%) HP:0000298
41 macrotia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000400
42 eversion of lateral third of lower eyelids 56 32 hallmark (90%) Very frequent (99-80%) HP:0007655
43 crossed fused renal ectopia 56 32 occasional (7.5%) Occasional (29-5%) HP:0004736
44 small hand 56 32 occasional (7.5%) Occasional (29-5%) HP:0200055
45 renal hypoplasia/aplasia 56 32 occasional (7.5%) Occasional (29-5%) HP:0008678
46 hypoplasia of penis 56 32 occasional (7.5%) Occasional (29-5%) HP:0008736
47 abnormal dermatoglyphics 56 32 hallmark (90%) Very frequent (99-80%) HP:0007477
48 eeg abnormality 56 32 occasional (7.5%) Occasional (29-5%) HP:0002353
49 protruding ear 56 32 hallmark (90%) Very frequent (99-80%) HP:0000411
50 conductive hearing impairment 56 32 frequent (33%) Frequent (79-30%) HP:0000405

MGI Mouse Phenotypes related to Kabuki Syndrome 1:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.28 CSPG5 DPY30 KDM6A KMT2B KMT2D MFRP

Drugs & Therapeutics for Kabuki Syndrome 1

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

(show all 12)
id 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 Dopamine Agents
6 Dopamine Antagonists
7 Neurotransmitter Agents
8 Psychotropic Drugs
9
Serotonin 50-67-9 5202
10 Serotonin Agents
11 Serotonin Antagonists
12 Tranquilizing Agents

Interventional clinical trials:


id 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 risperidone
3 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:

id Genetic test Affiliating Genes
1 Kabuki Syndrome 1 29
2 Kabuki Syndrome 29 24 KDM6A

Anatomical Context for Kabuki Syndrome 1

MalaCards organs/tissues related to Kabuki Syndrome 1:

39
Heart, Eye, Kidney, Skin

Publications for Kabuki Syndrome 1

Variations for Kabuki Syndrome 1

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

71 (show all 13)
id 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
10 KMT2D p.Arg5154Gln VAR_074253
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 134)
id Gene Variation Type Significance SNP ID Assembly Location
1 KMT2D NM_003482.3(KMT2D): c.16360C> T (p.Arg5454Ter) single nucleotide variant Pathogenic rs267607239 GRCh38 Chromosome 12, 49022332: 49022332
2 KMT2D NM_003482.3(KMT2D): c.15536G> A (p.Arg5179His) single nucleotide variant Pathogenic rs267607237 GRCh37 Chromosome 12, 49420213: 49420213
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.10623_10629delTCTGTGTinsCGCAAGTCACG (p.Leu3542Alafs) indel Pathogenic rs398123699 GRCh37 Chromosome 12, 49427961: 49427967
5 KMT2D NM_003482.3(KMT2D): c.10740G> A (p.Gln3580=) single nucleotide variant Likely pathogenic rs398123700 GRCh37 Chromosome 12, 49427850: 49427850
6 KMT2D NM_003482.3(KMT2D): c.10819C> T (p.Gln3607Ter) single nucleotide variant Pathogenic rs398123701 GRCh37 Chromosome 12, 49427669: 49427669
7 KMT2D NM_003482.3(KMT2D): c.10834C> T (p.Gln3612Ter) single nucleotide variant Pathogenic rs398123702 GRCh37 Chromosome 12, 49427654: 49427654
8 KMT2D NM_003482.3(KMT2D): c.11149C> T (p.Gln3717Ter) single nucleotide variant Pathogenic rs398123704 GRCh37 Chromosome 12, 49427339: 49427339
9 KMT2D NM_003482.3(KMT2D): c.11201_11202delTG (p.Leu3734Profs) deletion Pathogenic rs398123706 GRCh37 Chromosome 12, 49427286: 49427287
10 KMT2D NM_003482.3(KMT2D): c.11692C> T (p.Gln3898Ter) single nucleotide variant Pathogenic rs398123708 GRCh37 Chromosome 12, 49426796: 49426796
11 KMT2D NM_003482.3(KMT2D): c.12406C> T (p.Gln4136Ter) single nucleotide variant Pathogenic rs398123711 GRCh37 Chromosome 12, 49426082: 49426082
12 KMT2D NM_003482.3(KMT2D): c.12430C> T (p.Gln4144Ter) single nucleotide variant Pathogenic rs398123712 GRCh37 Chromosome 12, 49426058: 49426058
13 KMT2D NM_003482.3(KMT2D): c.1300dupC (p.Leu434Profs) duplication Pathogenic rs398123715 GRCh37 Chromosome 12, 49446166: 49446166
14 KMT2D NM_003482.3(KMT2D): c.13032delC (p.Lys4345Asnfs) deletion Pathogenic/Likely pathogenic rs398123716 GRCh37 Chromosome 12, 49425456: 49425456
15 KMT2D NM_003482.3(KMT2D): c.14580dupT (p.Asp4861Terfs) duplication Pathogenic rs398123720 GRCh37 Chromosome 12, 49421649: 49421649
16 KMT2D NM_003482.3(KMT2D): c.14710C> T (p.Arg4904Ter) single nucleotide variant Pathogenic rs398123721 GRCh37 Chromosome 12, 49421039: 49421039
17 KMT2D NM_003482.3(KMT2D): c.15030dupA (p.Glu5011Argfs) duplication Pathogenic rs398123722 GRCh37 Chromosome 12, 49420719: 49420719
18 KMT2D NM_003482.3(KMT2D): c.15104G> C (p.Cys5035Ser) single nucleotide variant Likely pathogenic rs398123723 GRCh37 Chromosome 12, 49420645: 49420645
19 KMT2D NM_003482.3(KMT2D): c.15641G> A (p.Arg5214His) single nucleotide variant Likely pathogenic rs398123729 GRCh37 Chromosome 12, 49420108: 49420108
20 KMT2D NM_003482.3(KMT2D): c.15953_15956delTATT (p.Leu5318Serfs) deletion Pathogenic rs398123732 GRCh37 Chromosome 12, 49418457: 49418460
21 KMT2D NM_003482.3(KMT2D): c.16109delG (p.Gly5370Alafs) deletion Pathogenic rs398123733 GRCh37 Chromosome 12, 49416602: 49416602
22 KMT2D NM_003482.3(KMT2D): c.16306_16322del17insC (p.Ala5436Glnfs) indel Pathogenic rs398123735 GRCh37 Chromosome 12, 49416389: 49416405
23 KMT2D NM_003482.3(KMT2D): c.3532C> T (p.Gln1178Ter) single nucleotide variant Pathogenic rs398123741 GRCh37 Chromosome 12, 49443839: 49443839
24 KMT2D NM_003482.3(KMT2D): c.3834_3846delTATCAGCGGAGGC (p.Ile1279Lysfs) deletion Pathogenic rs398123743 GRCh37 Chromosome 12, 49443525: 49443537
25 KMT2D NM_003482.3(KMT2D): c.4135_4136delAT (p.Met1379Valfs) deletion Pathogenic rs398123744 GRCh37 Chromosome 12, 49441848: 49441849
26 KMT2D NM_003482.3(KMT2D): c.5645-2A> G single nucleotide variant Pathogenic rs398123750 GRCh37 Chromosome 12, 49436663: 49436663
27 KMT2D NM_003482.3(KMT2D): c.5908_5915delGACAGCCC (p.Asp1970Leufs) deletion Pathogenic/Likely pathogenic rs398123751 GRCh37 Chromosome 12, 49436066: 49436073
28 KMT2D NM_003482.3(KMT2D): c.6595delT (p.Tyr2199Ilefs) deletion Pathogenic/Likely pathogenic rs398123753 GRCh37 Chromosome 12, 49434958: 49434958
29 KMT2D NM_003482.3(KMT2D): c.7066C> T (p.Gln2356Ter) single nucleotide variant Pathogenic rs398123757 GRCh37 Chromosome 12, 49434487: 49434487
30 KMT2D NM_003482.3(KMT2D): c.7140delG (p.Gln2380Hisfs) deletion Pathogenic rs398123758 GRCh37 Chromosome 12, 49434413: 49434413
31 KMT2D NM_003482.3(KMT2D): c.14732C> T (p.Pro4911Leu) single nucleotide variant Likely pathogenic rs183347186 GRCh38 Chromosome 12, 49027234: 49027234
32 KMT2D NM_003482.3(KMT2D): c.16411A> T (p.Arg5471Trp) single nucleotide variant Likely pathogenic rs587783700 GRCh37 Chromosome 12, 49416064: 49416064
33 KMT2D NM_003482.3(KMT2D): c.16489_16491delATC (p.Ile5497del) deletion Likely pathogenic rs587783704 GRCh38 Chromosome 12, 49022073: 49022075
34 KMT2D NM_003482.3(KMT2D): c.16438_16441delAACT (p.Asn5480Valfs) deletion Pathogenic rs587783703 GRCh38 Chromosome 12, 49022123: 49022126
35 KMT2D NM_003482.3(KMT2D): c.16413G> T (p.Arg5471Ser) single nucleotide variant Likely pathogenic rs587783702 GRCh38 Chromosome 12, 49022151: 49022151
36 KMT2D NM_003482.3(KMT2D): c.15943C> T (p.Gln5315Ter) single nucleotide variant Pathogenic rs587783699 GRCh38 Chromosome 12, 49024687: 49024687
37 KMT2D NM_003482.3(KMT2D): c.15844C> T (p.Arg5282Ter) single nucleotide variant Pathogenic rs587783698 GRCh38 Chromosome 12, 49024887: 49024887
38 KMT2D NM_003482.3(KMT2D): c.15791G> A (p.Trp5264Ter) single nucleotide variant Pathogenic rs587783697 GRCh38 Chromosome 12, 49024940: 49024940
39 KMT2D NM_003482.3(KMT2D): c.15195G> A (p.Trp5065Ter) single nucleotide variant Pathogenic rs587783696 GRCh38 Chromosome 12, 49026771: 49026771
40 KMT2D NM_003482.3(KMT2D): c.15061C> T (p.Arg5021Ter) single nucleotide variant Pathogenic rs587783695 GRCh38 Chromosome 12, 49026905: 49026905
41 KMT2D NM_003482.3(KMT2D): c.13996_13997delAG (p.Arg4666Glyfs) deletion Pathogenic rs587783693 GRCh38 Chromosome 12, 49030282: 49030283
42 KMT2D NM_003482.3(KMT2D): c.13606C> T (p.Arg4536Ter) single nucleotide variant Pathogenic rs587783692 GRCh38 Chromosome 12, 49030958: 49030958
43 KMT2D NM_003482.3(KMT2D): c.13518delC (p.Ser4507Alafs) deletion Pathogenic rs587783691 GRCh38 Chromosome 12, 49031187: 49031187
44 KMT2D NM_003482.3(KMT2D): c.13450C> T (p.Arg4484Ter) single nucleotide variant Pathogenic rs587783690 GRCh38 Chromosome 12, 49031255: 49031255
45 KMT2D NM_003482.3(KMT2D): c.12962C> A (p.Ser4321Ter) single nucleotide variant Pathogenic rs587783688 GRCh38 Chromosome 12, 49031743: 49031743
46 KMT2D NM_003482.3(KMT2D): c.12956_12957delGA (p.Arg4319Thrfs) deletion Pathogenic rs587783687 GRCh38 Chromosome 12, 49031748: 49031749
47 KMT2D NM_003482.3(KMT2D): c.12896delG (p.Gly4299Aspfs) deletion Pathogenic rs587783686 GRCh38 Chromosome 12, 49031809: 49031809
48 KMT2D NM_003482.3(KMT2D): c.12592C> T (p.Arg4198Ter) single nucleotide variant Pathogenic rs587783685 GRCh38 Chromosome 12, 49032113: 49032113
49 KMT2D NM_003482.3(KMT2D): c.11386delC (p.Gln3796Argfs) deletion Pathogenic rs587783683 GRCh38 Chromosome 12, 49033319: 49033319
50 KMT2D NM_003482.3(KMT2D): c.11290C> T (p.Gln3764Ter) single nucleotide variant Pathogenic rs587783682 GRCh38 Chromosome 12, 49033415: 49033415

Copy number variations for Kabuki Syndrome 1 from CNVD:

7
id 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 GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.12 ASH2L KDM6A KMT2D RAP1A RAP1B RBBP5
2
Show member pathways
12.35 ASH2L DPY30 KDM6A KMT2B KMT2D RBBP5
3 11.93 ASH2L KDM6A RBBP5 WDR5
4
Show member pathways
11.25 ASH2L DPY30 KMT2B KMT2D RBBP5 WDR5
5 10.97 ASH2L KMT2D RBBP5
6 10.53 RAP1A RAP1B

GO Terms for Kabuki Syndrome 1

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

id Name GO ID Score Top Affiliating Genes
1 histone methyltransferase complex GO:0035097 9.5 ASH2L DPY30 KDM6A KMT2B KMT2D RBBP5
2 Set1C/COMPASS complex GO:0048188 9.46 ASH2L DPY30 RBBP5 WDR5
3 MLL1 complex GO:0071339 9.43 ASH2L RBBP5 WDR5
4 MLL3/4 complex GO:0044666 9.1 ASH2L DPY30 KDM6A KMT2D RBBP5 WDR5

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

id Name GO ID Score Top Affiliating Genes
1 response to estrogen GO:0043627 9.54 ASH2L KMT2D RBBP5
2 beta-catenin-TCF complex assembly GO:1904837 9.5 ASH2L KMT2D RBBP5
3 covalent chromatin modification GO:0016569 9.5 ASH2L DPY30 KDM6A KMT2B KMT2D RBBP5
4 microvillus assembly GO:0030033 9.48 RAP1A RAP1B
5 establishment of endothelial barrier GO:0061028 9.46 RAP1A RAP1B
6 Rap protein signal transduction GO:0032486 9.4 RAP1A RAP1B
7 negative regulation of synaptic vesicle exocytosis GO:2000301 9.26 RAP1A RAP1B
8 histone H3-K4 methylation GO:0051568 9.17 ASH2L DPY30 KDM6A KMT2B KMT2D RBBP5
9 regulation of cell junction assembly GO:1901888 9.16 RAP1A RAP1B
10 response to carbohydrate GO:0009743 9.13 RAP1A

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

id Name GO ID Score Top Affiliating Genes
1 histone-lysine N-methyltransferase activity GO:0018024 9.43 ASH2L DPY30 KMT2B KMT2D RBBP5 WDR5
2 histone methyltransferase activity (H3-K4 specific) GO:0042800 9.1 ASH2L DPY30 KMT2B KMT2D RBBP5 WDR5

Sources for Kabuki Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
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67 TGDB
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70 UMLS via Orphanet
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