KABUK1
MCID: KBK002
MIFTS: 49

Kabuki Syndrome 1 (KABUK1) malady

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

Aliases & Classifications for Kabuki Syndrome 1

Aliases & Descriptions for Kabuki Syndrome 1:

Name: Kabuki Syndrome 1 54 66 29 13
Kabuki Syndrome 12 23 50 24 25 56 66 29 42 14
Niikawa-Kuroki Syndrome 12 23 50 24 25 56 66
Kabuki Make-Up Syndrome 23 24 25 56 66
Kms 12 50 25 66
Kabuki Make Up Syndrome 12 50
Kabuki Makeup Syndrome 25
Kabuk1 66
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;

GeneReviews:

23
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:



External Ids:

OMIM 54 147920
Disease Ontology 12 DOID:0060473
SNOMED-CT 64 205805008 313426007
Orphanet 56 ORPHA2322
MESH via Orphanet 43 C537705
UMLS via Orphanet 70 C0796004
ICD10 via Orphanet 34 Q87.0
MedGen 40 C0796004
UMLS 69 C0796004

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 seizures, obesity and high palate. An important gene associated with Kabuki Syndrome 1 is KMT2D (Lysine Methyltransferase 2D), and among its related pathways/superpathways is Rap1 signalling. The drugs Dopamine and Risperidone have been mentioned in the context of this disorder. Affiliated tissues include eye, heart and skin.

UniProtKB/Swiss-Prot : 66 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... (147920) more...

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 : 71 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 120)
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 11.9
5 kmt2d-related kabuki syndrome 11.8
6 nk-cell enteropathy 11.8
7 severe combined immunodeficiency, b cell-negative 11.7
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 hypogonadotropic hypogonadism 1 with or without anosmia 11.5
16 severe combined immunodeficiency, x-linked 11.5
17 severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive 11.5
18 scid, autosomal recessive, t-negative/b-positive type 11.4
19 severe combined immunodeficiency due to ada deficiency 11.4
20 immunodeficiency 19 11.4
21 immunodeficiency 20 11.4
22 severe combined immunodeficiency, athabascan type 11.4
23 natural killer cell leukemia 11.4
24 immunodeficiency 17, cd3 gamma deficient 11.3
25 immunodeficiency 21 11.3
26 malignant histiocytosis 11.2
27 immunodeficiency 49 10.9
28 hardikar syndrome 10.9
29 immunodeficiency 18 10.8
30 immunodeficiency, primary, autosomal recessive, il21r-related 10.8
31 immunodeficiency 40 10.8
32 hemangioma-thrombocytopenia syndrome 10.8
33 severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation 10.8
34 adenosine deaminase deficiency 10.8
35 neurotrophic keratopathy 10.7
36 hemophagocytic lymphohistiocytosis, familial, 4 10.7
37 natural killer cell and glucocorticoid deficiency with dna repair defect 10.7
38 autoimmune lymphoproliferative syndrome, type iib 10.7
39 hemophagocytic lymphohistiocytosis, familial, 2 10.7
40 interleukin-7 receptor alpha deficiency 10.7
41 polymorphic reticulosis 10.7
42 cytogenetically normal acute myeloid leukemia 10.7
43 lymphoma 10.5
44 peripheral t-cell lymphoma 10.4
45 mycosis fungoides 10.4
46 enteropathy-associated t-cell lymphoma 10.3
47 hypoplastic left heart syndrome 9.8
48 neuropathy 9.8
49 van der woude syndrome 9.8
50 microphthalmia 9.7

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 by clinical synopsis from OMIM:

147920

Clinical features from OMIM:

147920

Human phenotypes related to Kabuki Syndrome 1:

56 32 (show top 50) (show all 94)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 56 32 Occasional (29-5%) HP:0001250
2 obesity 56 32 Occasional (29-5%) HP:0001513
3 high palate 56 32 Frequent (79-30%) HP:0000218
4 hydrocephalus 56 32 Frequent (79-30%) HP:0000238
5 ptosis 56 32 Frequent (79-30%) HP:0000508
6 nystagmus 56 32 Occasional (29-5%) HP:0000639
7 precocious puberty 56 32 Occasional (29-5%) HP:0000826
8 muscular hypotonia 56 32 Frequent (79-30%) HP:0001252
9 failure to thrive 56 32 Frequent (79-30%) HP:0001508
10 eeg abnormality 56 32 Occasional (29-5%) HP:0002353
11 scoliosis 56 32 Frequent (79-30%) HP:0002650
12 macrotia 56 32 Very frequent (99-80%) HP:0000400
13 widely spaced teeth 56 32 Frequent (79-30%) HP:0000687
14 abnormality of the teeth 56 32 Frequent (79-30%) HP:0000164
15 microcephaly 56 32 Frequent (79-30%) HP:0000252
16 sensorineural hearing impairment 56 32 Frequent (79-30%) HP:0000407
17 short stature 56 32 Frequent (79-30%) HP:0004322
18 cleft palate 56 32 Frequent (79-30%) HP:0000175
19 feeding difficulties 56 32 Frequent (79-30%) HP:0011968
20 strabismus 56 32 Frequent (79-30%) HP:0000486
21 joint hyperflexibility 56 32 Frequent (79-30%) HP:0005692
22 microdontia 56 32 Frequent (79-30%) HP:0000691
23 cryptorchidism 56 32 Occasional (29-5%) HP:0000028
24 abnormal dermatoglyphics 56 32 Very frequent (99-80%) HP:0007477
25 coarctation of aorta 56 32 Frequent (79-30%) HP:0001680
26 mask-like facies 56 32 Occasional (29-5%) HP:0000298
27 protruding ear 56 32 Very frequent (99-80%) HP:0000411
28 ventriculomegaly 56 32 Frequent (79-30%) HP:0002119
29 cerebral cortical atrophy 56 32 Frequent (79-30%) HP:0002120
30 hip dislocation 56 32 Occasional (29-5%) HP:0002827
31 hypospadias 56 32 Occasional (29-5%) HP:0000047
32 small hand 56 32 Occasional (29-5%) HP:0200055
33 renal hypoplasia/aplasia 56 32 Occasional (29-5%) HP:0008678
34 conductive hearing impairment 56 32 Frequent (79-30%) HP:0000405
35 recurrent infections 56 32 Frequent (79-30%) HP:0002719
36 hypoplasia of penis 56 32 Occasional (29-5%) HP:0008736
37 hypodontia 56 32 Frequent (79-30%) HP:0000668
38 abnormality of the cardiac septa 56 32 Frequent (79-30%) HP:0001671
39 highly arched eyebrow 56 32 Very frequent (99-80%) HP:0002553
40 long eyelashes 56 32 Very frequent (99-80%) HP:0000527
41 hemivertebrae 56 32 Very frequent (99-80%) HP:0002937
42 preauricular skin tag 56 32 Occasional (29-5%) HP:0000384
43 microcornea 56 32 Occasional (29-5%) HP:0000482
44 blue sclerae 56 32 Occasional (29-5%) HP:0000592
45 ureteropelvic junction obstruction 56 32 Occasional (29-5%) HP:0000074
46 hydronephrosis 56 32 Occasional (29-5%) HP:0000126
47 butterfly vertebrae 56 32 Very frequent (99-80%) HP:0003316
48 sparse lateral eyebrow 56 32 Very frequent (99-80%) HP:0005338
49 congenital diaphragmatic hernia 56 32 Occasional (29-5%) HP:0000776
50 short columella 56 32 Very frequent (99-80%) HP:0002000

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
Serotonin 50-67-9 5202
4 Serotonin Agents
5 Serotonin Antagonists
6 Neurotransmitter Agents
7 Tranquilizing Agents
8 Dopamine Agents
9 Dopamine Antagonists
10 Psychotropic Drugs
11 Antipsychotic Agents
12 Central Nervous System Depressants

Interventional clinical trials:


id Name Status NCT ID Phase
1 French Kabuki Syndrome Network. Epidemiology, Management of Patients and Research by Array-CGH Completed NCT01314534
2 Actigraphic Analysis of Treatment Response Completed NCT00723580
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
Eye, Heart, Skin, Kidney

Publications for Kabuki Syndrome 1

Variations for Kabuki Syndrome 1

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

66 (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 128)
id 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.13579A> T (p.Lys4527Ter) single nucleotide variant Pathogenic rs267607240 GRCh37 Chromosome 12, 49424768: 49424768
3 KMT2D NM_003482.3(KMT2D): c.16360C> T (p.Arg5454Ter) single nucleotide variant Pathogenic rs267607239 GRCh37 Chromosome 12, 49416115: 49416115
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.16489_16491delATC (p.Ile5497del) deletion Likely pathogenic rs587783704 GRCh37 Chromosome 12, 49415856: 49415858
32 KMT2D NM_003482.3(KMT2D): c.16438_16441delAACT (p.Asn5480Valfs) deletion Pathogenic rs587783703 GRCh38 Chromosome 12, 49022123: 49022126
33 KMT2D NM_003482.3(KMT2D): c.16413G> T (p.Arg5471Ser) single nucleotide variant Likely pathogenic rs587783702 GRCh37 Chromosome 12, 49415934: 49415934
34 KMT2D NM_003482.3(KMT2D): c.16411A> T (p.Arg5471Trp) single nucleotide variant Likely pathogenic rs587783700 GRCh38 Chromosome 12, 49022281: 49022281
35 KMT2D NM_003482.3(KMT2D): c.15943C> T (p.Gln5315Ter) single nucleotide variant Pathogenic rs587783699 GRCh38 Chromosome 12, 49024687: 49024687
36 KMT2D NM_003482.3(KMT2D): c.15844C> T (p.Arg5282Ter) single nucleotide variant Pathogenic rs587783698 GRCh38 Chromosome 12, 49024887: 49024887
37 KMT2D NM_003482.3(KMT2D): c.15791G> A (p.Trp5264Ter) single nucleotide variant Pathogenic rs587783697 GRCh37 Chromosome 12, 49418723: 49418723
38 KMT2D NM_003482.3(KMT2D): c.15195G> A (p.Trp5065Ter) single nucleotide variant Pathogenic rs587783696 GRCh38 Chromosome 12, 49026771: 49026771
39 KMT2D NM_003482.3(KMT2D): c.15061C> T (p.Arg5021Ter) single nucleotide variant Pathogenic rs587783695 GRCh37 Chromosome 12, 49420688: 49420688
40 KMT2D NM_003482.3(KMT2D): c.13996_13997delAG (p.Arg4666Glyfs) deletion Pathogenic rs587783693 GRCh37 Chromosome 12, 49424065: 49424066
41 KMT2D NM_003482.3(KMT2D): c.13606C> T (p.Arg4536Ter) single nucleotide variant Pathogenic rs587783692 GRCh37 Chromosome 12, 49424741: 49424741
42 KMT2D NM_003482.3(KMT2D): c.13518delC (p.Ser4507Alafs) deletion Pathogenic rs587783691 GRCh38 Chromosome 12, 49031187: 49031187
43 KMT2D NM_003482.3(KMT2D): c.13450C> T (p.Arg4484Ter) single nucleotide variant Pathogenic rs587783690 GRCh37 Chromosome 12, 49425038: 49425038
44 KMT2D NM_003482.3(KMT2D): c.12962C> A (p.Ser4321Ter) single nucleotide variant Pathogenic rs587783688 GRCh37 Chromosome 12, 49425526: 49425526
45 KMT2D NM_003482.3(KMT2D): c.12956_12957delGA (p.Arg4319Thrfs) deletion Pathogenic rs587783687 GRCh38 Chromosome 12, 49031748: 49031749
46 KMT2D NM_003482.3(KMT2D): c.12896delG (p.Gly4299Aspfs) deletion Pathogenic rs587783686 GRCh38 Chromosome 12, 49031809: 49031809
47 KMT2D NM_003482.3(KMT2D): c.12592C> T (p.Arg4198Ter) single nucleotide variant Pathogenic rs587783685 GRCh38 Chromosome 12, 49032113: 49032113
48 KMT2D NM_003482.3(KMT2D): c.11386delC (p.Gln3796Argfs) deletion Pathogenic rs587783683 GRCh37 Chromosome 12, 49427102: 49427102
49 KMT2D NM_003482.3(KMT2D): c.11290C> T (p.Gln3764Ter) single nucleotide variant Pathogenic rs587783682 GRCh37 Chromosome 12, 49427198: 49427198
50 KMT2D NM_003482.3(KMT2D): c.11263C> T (p.Gln3755Ter) single nucleotide variant Pathogenic rs587783681 GRCh37 Chromosome 12, 49427225: 49427225

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 9.83 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 9.13 ASH2L KDM6A KMT2D
2 MLL3/4 complex GO:0044666 8.8 ASH2L KDM6A KMT2D

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

id Name GO ID Score Top Affiliating Genes
1 microvillus assembly GO:0030033 9.37 RAP1A RAP1B
2 establishment of endothelial barrier GO:0061028 9.32 RAP1A RAP1B
3 Rap protein signal transduction GO:0032486 9.26 RAP1A RAP1B
4 negative regulation of synaptic vesicle exocytosis GO:2000301 9.16 RAP1A RAP1B
5 regulation of cell junction assembly GO:1901888 8.96 RAP1A RAP1B
6 histone H3-K4 methylation GO:0051568 8.8 ASH2L KDM6A KMT2D

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

id Name GO ID Score Top Affiliating Genes
1 histone methyltransferase activity (H3-K4 specific) GO:0042800 8.62 ASH2L KMT2D

Sources for Kabuki Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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