MCID: KBK002
MIFTS: 49

Kabuki Syndrome 1 malady

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

Aliases & Classifications for Kabuki Syndrome 1

About this section

Aliases & Descriptions for Kabuki Syndrome 1:

Name: Kabuki Syndrome 1 52 70 27 12
Kabuki Syndrome 11 23 48 24 25 54 70 27 39 13
Niikawa-Kuroki Syndrome 11 23 48 24 25 54 70
Kabuki Make-Up Syndrome 23 24 25 54 70
Kms 11 48 25 70
 
Kabuki Make Up Syndrome 11 48
Kabuki Makeup Syndrome 25
Kabuk1 70
Nks 48

Characteristics:

Orphanet epidemiological data:

54
kabuki syndrome:
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: any age

HPO:

64
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:

OMIM52 147920
Disease Ontology11 DOID:0060473
Orphanet54 ORPHA2322
MESH via Orphanet40 C537705
UMLS via Orphanet69 C0796004
ICD10 via Orphanet31 Q87.0
MedGen37 C0796004
UMLS68 C0796004

Summaries for Kabuki Syndrome 1

About this section
NIH Rare Diseases:48 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 abnormality of the nose, macrotia and abnormality of the eyelashes. An important gene associated with Kabuki Syndrome 1 is KMT2D (Lysine Methyltransferase 2D), and among its related pathways is Rap1 signalling. Affiliated tissues include eye, heart and skin.

Disease Ontology:11 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: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 theater called Kabuki.

OMIM:52 Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a... (147920) more...

UniProtKB/Swiss-Prot:70 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:71 Kabuki syndrome, also previously known as Kabuki makeup syndrome, KMS or Niikawa–Kuroki Syndrome, is a... more...

GeneReviews for NBK62111

Related Diseases for Kabuki Syndrome 1

About this section

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 111)
idRelated DiseaseScoreTop Affiliating Genes
1kabuki syndrome 212.3
2extranodal nasal nk/t cell lymphoma12.1
3chronic nk-cell lymphocytosis11.9
4kdm6a-related kabuki syndrome11.9
5kmt2d-related kabuki syndrome11.8
6nk-cell enteropathy11.8
7severe combined immunodeficiency, b cell-negative11.7
8severe combined immune deficiency, autosomal recessive t cell-negative, b cell-positive, nk cell-positive, il7r-related11.7
9severe combined immune deficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative, jak3-related11.7
10severe combined immune deficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive, cd3d-related11.7
11severe combined immune deficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive, cd3e-related11.7
12severe combined immune deficiency, autosomal recessive t cell-negative, b cell-positive, nk cell-positive, ptprc-related11.7
13severe combined immune deficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive, rag1/rag2-related11.7
14blastic plasmacytoid dendritic cell11.6
15severe combined immunodeficiency, x-linked11.5
16severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive11.5
17scid, autosomal recessive, t-negative/b-positive type11.5
18severe combined immunodeficiency due to ada deficiency11.5
19hypogonadotropic hypogonadism 1 with or without anosmia11.4
20immunodeficiency 1911.4
21immunodeficiency 2011.4
22severe combined immunodeficiency, athabascan type11.4
23natural killer cell leukemia11.4
24immunodeficiency 2111.3
25immunodeficiency 17, cd3 gamma deficient11.3
26malignant histiocytosis11.0
27severe combined immunodeficiency due to complete rag1/2 deficiency10.9
28hardikar syndrome10.9
29immunodeficiency 4010.9
30immunodeficiency 1810.9
31immunodeficiency, primary, autosomal recessive, il21r-related10.9
32severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation10.8
33adenosine deaminase deficiency10.8
34hemophagocytic lymphohistiocytosis, familial, 410.7
35natural killer cell and glucocorticoid deficiency with dna repair defect10.7
36hemophagocytic lymphohistiocytosis, familial, 210.7
37autoimmune lymphoproliferative syndrome, type iib10.7
38interleukin-7 receptor alpha deficiency10.7
39neurotrophic keratopathy10.7
40polymorphic reticulosis10.7
41cytogenetically normal acute myeloid leukemia10.7
42lymphoma10.5
43clear cell ependymoma10.5KDM6A, KMT2D
44peripheral t-cell lymphoma10.4
45mycosis fungoides10.4
46enteropathy-associated t-cell lymphoma10.3
47hypoplastic left heart syndrome9.8
48neuropathy9.8
49microphthalmia9.7
50cholestasis9.7

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



Diseases related to kabuki syndrome 1

Symptoms & Phenotypes for Kabuki Syndrome 1

About this section

Symptoms by clinical synopsis from OMIM:

147920

Clinical features from OMIM:

147920

Human phenotypes related to Kabuki Syndrome 1:

 64 54 (show all 105)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the nose64 hallmark (90%) HP:0000366
2 macrotia64 54 hallmark (90%) Very frequent (99-80%) HP:0000400
3 abnormality of the eyelashes64 hallmark (90%) HP:0000499
4 brachydactyly syndrome64 hallmark (90%) HP:0001156
5 highly arched eyebrow64 54 hallmark (90%) Very frequent (99-80%) HP:0002553
6 abnormal form of the vertebral bodies64 54 hallmark (90%) Very frequent (99-80%) HP:0003312
7 sparse lateral eyebrow64 54 hallmark (90%) Very frequent (99-80%) HP:0005338
8 abnormal dermatoglyphics64 54 hallmark (90%) Very frequent (99-80%) HP:0007477
9 cognitive impairment64 hallmark (90%) HP:0100543
10 cleft palate64 54 typical (50%) Frequent (79-30%) HP:0000175
11 hydrocephalus64 54 typical (50%) Frequent (79-30%) HP:0000238
12 microcephaly64 54 typical (50%) Frequent (79-30%) HP:0000252
13 conductive hearing impairment64 54 typical (50%) Frequent (79-30%) HP:0000405
14 sensorineural hearing impairment64 54 typical (50%) Frequent (79-30%) HP:0000407
15 strabismus64 54 typical (50%) Frequent (79-30%) HP:0000486
16 ptosis64 54 typical (50%) Frequent (79-30%) HP:0000508
17 blue sclerae64 54 typical (50%) Occasional (29-5%) HP:0000592
18 microdontia64 54 typical (50%) Frequent (79-30%) HP:0000691
19 muscular hypotonia64 54 typical (50%) Frequent (79-30%) HP:0001252
20 joint hypermobility64 typical (50%) HP:0001382
21 abnormality of the cardiac septa64 54 typical (50%) Frequent (79-30%) HP:0001671
22 abnormality of the aorta64 typical (50%) HP:0001679
23 ventriculomegaly64 54 typical (50%) Frequent (79-30%) HP:0002119
24 cerebral cortical atrophy64 54 typical (50%) Frequent (79-30%) HP:0002120
25 scoliosis64 54 typical (50%) Frequent (79-30%) HP:0002650
26 short stature64 54 typical (50%) Frequent (79-30%) HP:0004322
27 reduced number of teeth64 typical (50%) HP:0009804
28 abnormality of immune system physiology64 54 typical (50%) Frequent (79-30%) HP:0010978
29 non-midline cleft lip64 typical (50%) HP:0100335
30 cryptorchidism64 54 occasional (7.5%) Occasional (29-5%) HP:0000028
31 mask-like facies64 54 occasional (7.5%) Occasional (29-5%) HP:0000298
32 preauricular skin tag64 54 occasional (7.5%) Occasional (29-5%) HP:0000384
33 microcornea64 54 occasional (7.5%) Occasional (29-5%) HP:0000482
34 chorioretinal coloboma64 occasional (7.5%) HP:0000567
35 nystagmus64 54 occasional (7.5%) Occasional (29-5%) HP:0000639
36 congenital diaphragmatic hernia64 54 occasional (7.5%) Occasional (29-5%) HP:0000776
37 precocious puberty64 54 occasional (7.5%) Occasional (29-5%) HP:0000826
38 seizures64 54 occasional (7.5%) Occasional (29-5%) HP:0001250
39 obesity64 54 occasional (7.5%) Occasional (29-5%) HP:0001513
40 eeg abnormality64 54 occasional (7.5%) Occasional (29-5%) HP:0002353
41 abnormality of the hip bone64 occasional (7.5%) HP:0003272
42 short palm64 occasional (7.5%) HP:0004279
43 renal hypoplasia/aplasia64 54 occasional (7.5%) Occasional (29-5%) HP:0008678
44 hypoplasia of penis64 54 occasional (7.5%) Occasional (29-5%) HP:0008736
45 lip pit64 54 occasional (7.5%) Occasional (29-5%) HP:0100267
46 abnormal localization of kidney64 54 occasional (7.5%) Occasional (29-5%) HP:0100542
47 displacement of the external urethral meatus64 occasional (7.5%) HP:0100627
48 micropenis64 HP:0000054
49 ureteropelvic junction obstruction64 54 Occasional (29-5%) HP:0000074
50 abnormality of the teeth64 54 Frequent (79-30%) HP:0000164
51 high palate64 54 Frequent (79-30%) HP:0000218
52 posteriorly rotated ears64 HP:0000358
53 hearing impairment64 HP:0000365
54 recurrent otitis media64 HP:0000403
55 wide nasal bridge64 HP:0000431
56 depressed nasal tip64 HP:0000437
57 sparse and thin eyebrow64 HP:0000535
58 long palpebral fissure64 HP:0000637
59 congenital hypothyroidism64 HP:0000851
60 cafe-au-lait spot64 HP:0000957
61 hirsutism64 HP:0001007
62 prominent fingertip pads64 HP:0001212
63 intellectual disability64 HP:0001249
64 global developmental delay64 HP:0001263
65 congenital hip dislocation64 HP:0001374
66 ventricular septal defect64 HP:0001629
67 atria septal defect64 HP:0001631
68 coarctation of aorta64 54 Frequent (79-30%) HP:0001680
69 hemolytic anemia64 HP:0001878
70 autoimmune thrombocytopenia64 HP:0001973
71 anal atresia64 HP:0002023
72 malabsorption64 HP:0002024
73 anal stenosis64 HP:0002025
74 recurrent aspiration pneumonia64 HP:0002100
75 intestinal malrotation64 HP:0002566
76 abnormality of the vertebrae64 HP:0003468
77 preauricular pit64 HP:0004467
78 crossed fused renal ectopia64 54 Occasional (29-5%) HP:0004736
79 anoperineal fistula64 HP:0005218
80 eversion of lateral third of lower eyelids64 54 Very frequent (99-80%) HP:0007655
81 feeding difficulties in infancy64 HP:0008872
82 postnatal growth retardation64 HP:0008897
83 short 5th finger64 54 Very frequent (99-80%) HP:0009237
84 premature thelarche64 HP:0010314
85 hypospadias54 Occasional (29-5%)
86 duplicated collecting system54 Occasional (29-5%)
87 hydronephrosis54 Occasional (29-5%)
88 oral cleft54 Frequent (79-30%)
89 protruding ear54 Very frequent (99-80%)
90 long eyelashes54 Very frequent (99-80%)
91 coloboma54 Occasional (29-5%)
92 hypodontia54 Frequent (79-30%)
93 widely spaced teeth54 Frequent (79-30%)
94 failure to thrive54 Frequent (79-30%)
95 short columella54 Very frequent (99-80%)
96 recurrent infections54 Frequent (79-30%)
97 hip dislocation54 Occasional (29-5%)
98 hemivertebrae54 Very frequent (99-80%)
99 butterfly vertebrae54 Very frequent (99-80%)
100 joint hyperflexibility54 Frequent (79-30%)
101 short middle phalanx of finger54 Very frequent (99-80%)
102 abnormality of dental morphology54 Frequent (79-30%)
103 vertebral clefting54 Very frequent (99-80%)
104 feeding difficulties54 Frequent (79-30%)
105 small hand54 Occasional (29-5%)

Drugs & Therapeutics for Kabuki Syndrome 1

About this section

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

(show all 12)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Risperidoneapproved, investigational487106266-06-25073
Synonyms:
106266-06-2
3-(2-(4-(6-Fluoro-1,2-benzisoxazol-3-yl)piperidino)ethyl)-6,7,8,9-tetrahydro-2-methyl-4H-pyrido(1,2-a)pyrimidin-4-one
3-(2-[4-(6-fluoro-benzo[d]isoxazol-3-yl)-piperidin-1-yl]-ethyl)-2-methyl-6,7,8,9-tetrahydro-pyrido[
3-(2-[4-(6-fluoro-benzo[d]isoxazol-3-yl)-piperidin-1-yl]-ethyl)-2-methyl-6,7,8,9-tetrahydropyrido[1,
3-[2-[-4-(6-fluoro-1,2-benzisoxazol-3-yl)-1-piperidinyl]ethyl]-6,7,8,9-tetrahydro-2-methyl-4H-pyrido[1,2-a]pyrimidin-4-one
3-[2-[4-(6-Fluoro-1,2-benzisoxazol-3-yl)-1-piperidinyl]-6,7,8,9-tetrahydro-2-methyl-4H-pyrido [1,2-a] pyrimidin-4-one
3-[2-[4-(6-Fluoro-1,2-benzisoxazol-3-yl)piperi-dino]ethyl]-6,7,8,9-tetrahydro-2-methyl-4H-pyrido[1,2-a]-pyrimidin-4-one
3-[2-[4-(6-fluoro-1,2-benzisoxazol-3-yl)-1-piperidinyl]ethyl]-6,7,8,9-tetrahydro-2-methyl-4H-pyrido[1,2-a]pyrimidin-4-one
3-[2-[4-(6-fluoro-1,2-benzoxazol-3-yl)piperidin-1-yl]ethyl]-2-methyl-6,7,8,9-tetrahydropyrido[1,2-a]pyrimidin-4-one
3-[2-[4-(6-fluoro-benzo[d]isoxazol-3-yl)-piperidin-1-yl]-ethyl]-2-methyl-6,7,8,9-tetrahydropyrido[1,
3-{2-[4-(6-Fluoro-benzo[d]isoxazol-3-yl)-piperidin-1-yl]-ethyl}-2-methyl-6,7,8,9-tetrahydropyrido[1,2-a]pyrimidin-4-one
3-{2-[4-(6-fluoro-1,2-benzisoxazol-3-yl)piperidin-1-yl]ethyl}-2-methyl-6,7,8,9-tetrahydro-4H-pyrido[1,2-a]pyrimidin-4-one
3-{2-[4-(6-fluoro-1,2-benzoxazol-3-yl)piperidin-1-yl]ethyl}-2-methyl-6,7,8,9-tetrahydro-4H-pyrido[1,2-a]pyrimidin-4-one
AB00514010
AC-1306
AC1L1JJU
BIDD:GT0262
BRD-K53857191-001-04-5
BRN 4891881
Belivon
Bio-0092
Buspirone
C23H27FN4O2
CAS-106266-06-2
CHEBI:8871
CHEMBL85
CID5073
CPD000466323
Consta, Risperdal
D00426
D018967
DB00734
EU-0101074
HMS1571M19
HMS2051H07
HMS2089C22
HSDB 7580
I01-1156
Jsp000573
KS-1106
L000510
LS-134196
Lopac-R-118
MLS000759429
MLS001165758
MLS001424081
MolPort-002-885-858
 
NCGC00015883-01
NCGC00015883-02
NCGC00015883-03
NCGC00094352-01
NCGC00094352-02
NCGC00094352-03
NCGC00179257-01
Prestwick0_001029
Prestwick1_001029
R 62 766
R 64 766, Risperdal, Risperidone
R 64,766
R 64766
R-118
R-64,766
R-64-766
R-64766
R64,766
R64766
Rispen
Risperdal
Risperdal (TN)
Risperdal Consta
Risperdal M-Tab
Risperidal
Risperidal M-Tab
Risperidona
Risperidona [Spanish]
Risperidone
Risperidone (JAN/USAN/INN)
Risperidone (RIS)
Risperidone [USAN:BAN:INN]
Risperidone, placebo
Risperidonum
Risperidonum [Latin]
Risperin
Rispolept
Rispolin
S1615_Selleck
SAM001246595
SMR000466323
SPBio_003078
STK646402
Sequinan
Spiron
TL8000230
UNII-L6UH7ZF8HC
risperdone
risperidone
2
Dopamineapproved375951-61-6, 62-31-7681
Synonyms:
(3H)-Dopamine
.Beta.-(3,4-Dihydroxyphenyl)ethylamine hydrochloride
.alpha.-(3,4-Dihydroxyphenyl)-.beta.-aminoethane
1,2-Benzenediol, 4-(2-aminoethyl)- (9CI)
1,2-Benzenediol, 4-(2-aminoethyl)-, hydrochloride
1,2-Benzenediol, 4-(2-aminoethyl)-, labeled with tritium
153C5321-5FEE-4B0B-8925-F388F0EEEBD1
2-(3,4-Dihydroxyphenyl)ethylamine
2-(3,4-dihydroxyphenyl)ethylamine
2-benzenediol
3,4-Dihydroxyphenethylamine
3,4-Dihydroxyphenethylamine hydrochloride
3,4-Dihydroxyphenylethylamine
3,4-dihydroxyphenethylamine
3-Hydroxtyramine
3-Hydroxytyramine
3-Hydroxytyramine Hydrobromide
3-Hydroxytyramine hydrochloride
4-(2-Aminoethyl)-1,
4-(2-Aminoethyl)-1,2-benzenediol
4-(2-Aminoethyl)-1,2-bezenediol
4-(2-Aminoethyl)-Pyrocatechol
4-(2-Aminoethyl)benzene-1,2-diol
4-(2-Aminoethyl)catechol
4-(2-Aminoethyl)pyrocatechol
4-(2-Aminoethyl)pyrocatechol hydrochloride
4-(2-aminoethyl)-pyrocatechol
50444-17-2
51-61-6
62-31-7 (HYDROCHLORIDE)
AC1L19S5
AC1Q54AX
AC1Q54AY
AKOS003790978
ASL 279
BIDD:ER0506
BPBio1_001123
BSPBio_001932
Biomol-NT_000001
C03758
CHEBI:18243
CHEMBL59
CID681
D07870
DB00988
Deoxyepinephrine
DivK1c_000780
Dopamin
Dopamina
Dopamina [INN-Spanish]
Dopamine
Dopamine (INN)
Dopamine (USAN)(*hydrochloride*)
Dopamine [INN:BAN]
Dopaminum
Dopaminum [INN-Latin]
Dopastat
Dophamine
Dynatra
EINECS 200-110-0
HSDB 3068
Hydroxytyramin
Hydroxytyramine
IDI1_000780
IP 498
Intropin
Intropin [*hydrochloride*]
KBio1_000780
 
KBio2_001492
KBio2_002388
KBio2_002484
KBio2_004060
KBio2_004956
KBio2_005052
KBio2_006628
KBio2_007524
KBio2_007620
KBio3_001152
KBio3_002867
KBio3_002962
KBioGR_001129
KBioGR_002388
KBioGR_002484
KBioSS_001492
KBioSS_002393
KBioSS_002491
KW-3-060
L-DOPAMINE
L000232
LDP
LS-159
Lopac-H-8502
Lopac0_000586
Medopa (TN)
MolPort-001-641-000
NCGC00015519-01
NCGC00015519-08
NCGC00096050-01
NCGC00096050-02
NCGC00096050-03
NCGC00096050-04
NCGC00096050-05
NINDS_000780
NSC 173182
NSC169105
NSC173182
Oprea1_088821
Oxytyramine
Pyrocatechol, 4-(2-aminoethyl)- (8CI)
Pyrocatechol, 4-(2-aminoethyl)-, hydrochloride
Revimine
Revivan
SPBio_001205
SPECTRUM1505155
ST048774
STK301601
Spectrum2_001023
Spectrum3_000406
Spectrum4_000525
Spectrum5_000945
Spectrum_001012
UNII-VTD58H1Z2X
UPCMLD0ENAT5885989:001
a-(3,4-Dihydroxyphenyl)-b-aminoethane
alpha-(3,4-Dihydroxyphenyl)-beta-aminoethane
cMAP_000036
cMAP_000065
dopamine
hydroxytyramine
intropin
m-Hydroxytyramine hydrochloride
nchembio.105-comp9
nchembio.107-comp4
nchembio.284-comp1
nchembio.78-comp16
nchembio.89-comp3
nchembio705-8
nchembio801-comp8
3
Serotonin356650-67-95202
Synonyms:
3-(2-Aminoethyl)-1H-indol-5-ol
3-(2-Aminoethyl)indol-5-ol
3-(b-Aminoethyl)-5-hydroxyindole
5-HT
5-HTA
5-Hydroxy-3-(b-aminoethyl)indole
 
5-Hydroxy-tryptamine
5-Hydroxyltryptamine
5-Hydroxytriptamine
5-Hydroxytryptamine
Antemovis
DS substance
Enteramin
Enteramine
4Serotonin Agents3102
5Serotonin Antagonists1381
6Tranquilizing Agents4164
7Neurotransmitter Agents17734
8Central Nervous System Depressants12806
9Dopamine Agents3759
10Dopamine Antagonists1083
11Antipsychotic Agents2359
12Psychotropic Drugs6279

Interventional clinical trials:

idNameStatusNCT IDPhase
1French Kabuki Syndrome Network. Epidemiology, Management of Patients and Research by Array-CGHUnknown statusNCT01314534
2Actigraphic Analysis of Treatment ResponseCompletedNCT00723580
3Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168

Search NIH Clinical Center for Kabuki Syndrome 1


Cochrane evidence based reviews: kabuki syndrome

Genetic Tests for Kabuki Syndrome 1

About this section

Genetic tests related to Kabuki Syndrome 1:

id Genetic test Affiliating Genes
1 Kabuki Syndrome 127
2 Kabuki Syndrome27 24 KDM6A

Anatomical Context for Kabuki Syndrome 1

About this section

MalaCards organs/tissues related to Kabuki Syndrome 1:

36
Eye, Heart, Skin, Kidney, Bone

Publications for Kabuki Syndrome 1

About this section

Variations for Kabuki Syndrome 1

About this section

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

70 (show all 13)
id Symbol AA change Variation ID SNP ID
1KMT2Dp.Cys5109PheVAR_063830
2KMT2Dp.Arg5179HisVAR_063831rs267607237
3KMT2Dp.Arg5214HisVAR_063832rs398123729
4KMT2Dp.Arg5340LeuVAR_063833
5KMT2Dp.Thr5464MetVAR_063834rs267607238
6KMT2Dp.Pro647GlnVAR_074220rs200088180
7KMT2Dp.Arg5030CysVAR_074246
8KMT2Dp.Arg5048CysVAR_074250rs398123724
9KMT2Dp.Arg5048HisVAR_074251
10KMT2Dp.Arg5154GlnVAR_074253
11KMT2Dp.Arg5214CysVAR_074255
12KMT2Dp.Arg5471ThrVAR_074259
13KMT2Dp.Ser5498PheVAR_074261

Clinvar genetic disease variations for Kabuki Syndrome 1:

5 (show all 120)
id Gene Variation Type Significance SNP ID Assembly Location
1KMT2DNM_003482.3(KMT2D): c.11263C> T (p.Gln3755Ter)SNVPathogenicrs587783681GRCh37Chr 12, 49427225: 49427225
2KMT2DNM_003482.3(KMT2D): c.11290C> T (p.Gln3764Ter)SNVPathogenicrs587783682GRCh37Chr 12, 49427198: 49427198
3KMT2DNM_003482.3(KMT2D): c.11386delC (p.Gln3796Argfs)deletionPathogenicrs587783683GRCh37Chr 12, 49427102: 49427102
4KMT2DNM_003482.3(KMT2D): c.12592C> T (p.Arg4198Ter)SNVPathogenicrs587783685GRCh37Chr 12, 49425896: 49425896
5KMT2DNM_003482.3(KMT2D): c.12896delG (p.Gly4299Aspfs)deletionPathogenicrs587783686GRCh37Chr 12, 49425592: 49425592
6KMT2DNM_003482.3(KMT2D): c.12956_12957delGA (p.Arg4319Thrfs)deletionPathogenicrs587783687GRCh37Chr 12, 49425531: 49425532
7KMT2DNM_003482.3(KMT2D): c.12962C> A (p.Ser4321Ter)SNVPathogenicrs587783688GRCh37Chr 12, 49425526: 49425526
8KMT2DNM_003482.3(KMT2D): c.1329_1332delACCT (p.Pro444Argfs)deletionPathogenicrs587783689GRCh37Chr 12, 49446134: 49446137
9KMT2DNM_003482.3(KMT2D): c.13450C> T (p.Arg4484Ter)SNVPathogenicrs587783690GRCh37Chr 12, 49425038: 49425038
10KMT2DNM_003482.3(KMT2D): c.13518delC (p.Ser4507Alafs)deletionPathogenicrs587783691GRCh37Chr 12, 49424970: 49424970
11KMT2DNM_003482.3(KMT2D): c.13606C> T (p.Arg4536Ter)SNVPathogenicrs587783692GRCh37Chr 12, 49424741: 49424741
12KMT2DNM_003482.3(KMT2D): c.13996_13997delAG (p.Arg4666Glyfs)deletionPathogenicrs587783693GRCh37Chr 12, 49424065: 49424066
13KMT2DNM_003482.3(KMT2D): c.15061C> T (p.Arg5021Ter)SNVPathogenicrs587783695GRCh37Chr 12, 49420688: 49420688
14KMT2DNM_003482.3(KMT2D): c.15195G> A (p.Trp5065Ter)SNVPathogenicrs587783696GRCh37Chr 12, 49420554: 49420554
15KMT2DNM_003482.3(KMT2D): c.15791G> A (p.Trp5264Ter)SNVPathogenicrs587783697GRCh37Chr 12, 49418723: 49418723
16KMT2DNM_003482.3(KMT2D): c.15844C> T (p.Arg5282Ter)SNVPathogenicrs587783698GRCh37Chr 12, 49418670: 49418670
17KMT2DNM_003482.3(KMT2D): c.15943C> T (p.Gln5315Ter)SNVPathogenicrs587783699GRCh37Chr 12, 49418470: 49418470
18KMT2DNM_003482.3(KMT2D): c.16411A> T (p.Arg5471Trp)SNVLikely pathogenicrs587783700GRCh37Chr 12, 49416064: 49416064
19KMT2DNM_003482.3(KMT2D): c.16413G> T (p.Arg5471Ser)SNVLikely pathogenicrs587783702GRCh37Chr 12, 49415934: 49415934
20KMT2DNM_003482.3(KMT2D): c.16438_16441delAACT (p.Asn5480Valfs)deletionPathogenicrs587783703GRCh37Chr 12, 49415906: 49415909
21KMT2DNM_003482.3(KMT2D): c.16489_16491delATC (p.Ile5497del)deletionLikely pathogenicrs587783704GRCh37Chr 12, 49415856: 49415858
22KMT2DNM_003482.3(KMT2D): c.1813G> T (p.Glu605Ter)SNVPathogenicrs587783705GRCh37Chr 12, 49445653: 49445653
23KMT2DNM_003482.3(KMT2D): c.256G> T (p.Glu86Ter)SNVPathogenicrs587783708GRCh37Chr 12, 49448455: 49448455
24KMT2DNM_003482.3(KMT2D): c.3121C> T (p.Gln1041Ter)SNVPathogenicrs587783711GRCh37Chr 12, 49444250: 49444250
25KMT2DNM_003482.3(KMT2D): c.3553C> T (p.Gln1185Ter)SNVPathogenicrs587783712GRCh37Chr 12, 49443818: 49443818
26KMT2DNM_003482.3(KMT2D): c.3695delC (p.Pro1232Argfs)deletionPathogenicrs587783713GRCh37Chr 12, 49443676: 49443676
27KMT2DNM_003482.3(KMT2D): c.400+1G> CSNVPathogenicrs587783714GRCh37Chr 12, 49448310: 49448310
28KMT2DNM_003482.3(KMT2D): c.4221delC (p.Cys1408Valfs)deletionPathogenicrs587783715GRCh37Chr 12, 49441763: 49441763
29KMT2DNM_003482.3(KMT2D): c.4739delC (p.Pro1580Glnfs)deletionPathogenicrs587783719GRCh37Chr 12, 49439705: 49439705
30KMT2DNM_003482.3(KMT2D): c.6086delC (p.Pro2029Leufs)deletionPathogenicrs587783723GRCh37Chr 12, 49435895: 49435895
31KMT2DNM_003482.3(KMT2D): c.6126C> A (p.Cys2042Ter)SNVPathogenicrs556669370GRCh37Chr 12, 49435757: 49435757
32KMT2DNM_003482.3(KMT2D): c.6670_6674delGGGGA (p.Gly2224Ilefs)deletionPathogenicrs587783725GRCh37Chr 12, 49434879: 49434883
33KMT2DNM_003482.3(KMT2D): c.8053C> T (p.Arg2685Ter)SNVPathogenicrs587783727GRCh37Chr 12, 49433394: 49433394
34KMT2DNM_003482.3(KMT2D): c.8171_8175delCCAGC (p.Pro2724Glnfs)deletionPathogenicrs587783728GRCh37Chr 12, 49433272: 49433276
35KMT2DNM_003482.3(KMT2D): c.8743C> T (p.Arg2915Ter)SNVLikely pathogenic, Pathogenicrs587783729GRCh37Chr 12, 49432396: 49432396
36KMT2DNM_003482.3(KMT2D): c.15256C> T (p.Arg5086Ter)SNVPathogenicrs727503979GRCh37Chr 12, 49420493: 49420493
37KMT2DNM_003482.3(KMT2D): c.8488C> T (p.Arg2830Ter)SNVPathogenicrs727503983GRCh37Chr 12, 49432651: 49432651
38KMT2DNM_003482.3(KMT2D): c.4009G> T (p.Glu1337Ter)SNVPathogenicrs727503986GRCh37Chr 12, 49442899: 49442899
39KMT2DNM_003482.3(KMT2D): c.3754C> T (p.Arg1252Ter)SNVPathogenicrs727503987GRCh38Chr 12, 49049834: 49049834
40KMT2DNM_003482.3(KMT2D): c.2797+1G> ASNVPathogenicrs727503988GRCh37Chr 12, 49444668: 49444668
41KMT2DNM_003482.3(KMT2D): c.1814_1815delAG (p.Glu605Valfs)deletionPathogenicrs727503989GRCh37Chr 12, 49445651: 49445652
42KMT2DNM_003482.3(KMT2D): c.133delA (p.Ser45Valfs)deletionPathogenicrs727503990GRCh37Chr 12, 49448726: 49448726
43KMT2DNM_003482.3(KMT2D): c.12688C> T (p.Gln4230Ter)SNVLikely pathogenicrs793888511GRCh38Chr 12, 49032017: 49032017
44KMT2DNM_003482.3(KMT2D): c.9961C> T (p.Arg3321Ter)SNVLikely pathogenicrs793888512GRCh37Chr 12, 49431178: 49431178
45KMT2DNM_003482.3(KMT2D): c.14659G> T (p.Glu4887Ter)SNVLikely pathogenicrs793888513GRCh38Chr 12, 49027307: 49027307
46KMT2DNM_003482.3(KMT2D): c.15235_15238delAATG (p.Asn5079Trpfs)deletionLikely pathogenicrs793888514GRCh37Chr 12, 49420511: 49420514
47KMT2DNM_003482.3(KMT2D): c.7481dupT (p.Ala2496Serfs)duplicationLikely pathogenicrs35584294GRCh38Chr 12, 49040289: 49040289
48KMT2DNM_003482.3(KMT2D): c.16413-1G> CSNVLikely pathogenicrs793888515GRCh38Chr 12, 49022152: 49022152
49KMT2DNM_003482.3(KMT2D): c.11796_11813del18 (p.Gln3934_Gln3939del)deletionLikely pathogenicrs793888516GRCh37Chr 12, 49426675: 49426692
50KMT2DNM_003482.3(KMT2D): c.14732C> T (p.Pro4911Leu)SNVLikely pathogenicrs183347186GRCh38Chr 12, 49027234: 49027234
51KMT2DNM_003482.3(KMT2D): c.2747_2748delCGinsAGCTGAGCCATCC (p.Pro916Glnfs)indelPathogenicrs797044630GRCh37Chr 12, 49444718: 49444719
52KMT2DNM_003482.3(KMT2D): c.3582dupC (p.Thr1195Hisfs)duplicationPathogenicrs796065328GRCh37Chr 12, 49443789: 49443789
53KMT2DNM_003482.3(KMT2D): c.4168dupG (p.Ala1390Glyfs)duplicationPathogenicrs756471180GRCh37Chr 12, 49441816: 49441816
54KMT2DNM_003482.3(KMT2D): c.4265G> A (p.Trp1422Ter)SNVPathogenicrs794727143GRCh37Chr 12, 49440545: 49440545
55KMT2DNM_003482.3(KMT2D): c.4485C> G (p.Tyr1495Ter)SNVPathogenicrs574622908GRCh37Chr 12, 49440141: 49440141
56KMT2DNM_003482.3(KMT2D): c.5131A> T (p.Lys1711Ter)SNVPathogenicrs794727342GRCh37Chr 12, 49438040: 49438040
57KMT2DNM_003482.3(KMT2D): c.5423delG (p.Gly1808Glufs)deletionPathogenicrs794727379GRCh37Chr 12, 49437462: 49437462
58KMT2DNM_003482.3(KMT2D): c.5677C> T (p.Gln1893Ter)SNVPathogenicrs794727420GRCh37Chr 12, 49436629: 49436629
59KMT2DNM_003482.3(KMT2D): c.177-12_177-2delGTGTGTCCACAdeletionPathogenicrs794727497GRCh37Chr 12, 49448536: 49448546
60KMT2DNM_003482.3(KMT2D): c.7375_7376delTC (p.Ser2459Profs)deletionPathogenicrs794727548GRCh37Chr 12, 49434177: 49434178
61KMT2DNM_003482.3(KMT2D): c.7903C> T (p.Arg2635Ter)SNVPathogenicrs794727549GRCh37Chr 12, 49433650: 49433650
62KMT2DNM_003482.3(KMT2D): c.11939delA (p.Gln3980Argfs)deletionPathogenicrs794727610GRCh37Chr 12, 49426549: 49426549
63KMT2DNM_003482.3(KMT2D): c.12481delG (p.Glu4161Serfs)deletionPathogenicrs794727611GRCh37Chr 12, 49426007: 49426007
64KMT2DNM_003482.3(KMT2D): c.13780dupG (p.Ala4594Glyfs)duplicationPathogenicrs797044740GRCh37Chr 12, 49424443: 49424443
65KMT2DNM_003482.3(KMT2D): c.15535C> T (p.Arg5179Cys)SNVPathogenicrs794727688GRCh37Chr 12, 49420214: 49420214
66KMT2DNM_003482.3(KMT2D): c.14885dupA (p.Pro4963Alafs)duplicationPathogenicrs797044744GRCh37Chr 12, 49420864: 49420864
67KMT2DNM_003482.3(KMT2D): c.15172delG (p.Val5058Cysfs)deletionPathogenicrs794727689GRCh38Chr 12, 49026794: 49026794
68KMT2DNM_003482.3(KMT2D): c.16412+1G> TSNVPathogenicrs794727752GRCh37Chr 12, 49416062: 49416062
69KMT2DNM_003482.3(KMT2D): c.4237-2A> CSNVPathogenicrs797045001GRCh38Chr 12, 49046792: 49046792
70KMT2DNM_003482.3(KMT2D): c.11845C> T (p.Gln3949Ter)SNVPathogenicrs797045658GRCh38Chr 12, 49032860: 49032860
71KMT2DNM_003482.3(KMT2D): c.15079C> T (p.Arg5027Ter)SNVPathogenicrs797045659GRCh38Chr 12, 49026887: 49026887
72KMT2DNM_003482.3(KMT2D): c.2954_2955insT (p.Pro986Thrfs)insertionPathogenicrs797045660GRCh38Chr 12, 49050633: 49050634
73KMT2DNM_003482.3(KMT2D): c.303delG (p.Ser102Alafs)deletionPathogenicrs797045661GRCh37Chr 12, 49448408: 49448408
74KMT2DNM_003482.3(KMT2D): c.3585dupA (p.Pro1196Thrfs)duplicationPathogenicrs797045662GRCh37Chr 12, 49443786: 49443786
75KMT2DNM_003482.3(KMT2D): c.3591delC (p.Thr1198Leufs)deletionPathogenicrs797045663GRCh37Chr 12, 49443780: 49443780
76KMT2DNM_003482.3(KMT2D): c.4981dupG (p.Glu1661Glyfs)duplicationPathogenicrs797045667GRCh38Chr 12, 49044505: 49044505
77KMT2DNM_003482.3(KMT2D): c.6171dupA (p.Ala2058Serfs)duplicationPathogenicrs797045668GRCh37Chr 12, 49435712: 49435712
78KMT2DNM_003482.3(KMT2D): c.6172delG (p.Ala2058Profs)deletionPathogenicrs797045669GRCh38Chr 12, 49041928: 49041928
79KMT2DNM_003482.3(KMT2D): c.836dupG (p.Cys279Trpfs)duplicationPathogenicrs797045670GRCh38Chr 12, 49053479: 49053479
80KMT2DNM_003482.3(KMT2D): c.8445_8475dup31 (p.Ala2826Thrfs)duplicationPathogenicrs797045671GRCh37Chr 12, 49432664: 49432694
81KMT2DNM_003482.3(KMT2D): c.9540delT (p.Glu3181Argfs)deletionPathogenicrs797045672GRCh38Chr 12, 49037816: 49037816
82KMT2DNM_003482.3(KMT2D): c.11275C> T (p.Gln3759Ter)SNVPathogenicrs863224890GRCh38Chr 12, 49033430: 49033430
83KMT2DNM_003482.3(KMT2D): c.13884delC (p.Thr4629Profs)deletionPathogenicrs886040960GRCh37Chr 12, 49424178: 49424178
84KMT2DNM_003482.3(KMT2D): c.11770C> T (p.Gln3924Ter)SNVPathogenicrs886041106GRCh37Chr 12, 49426718: 49426718
85KMT2DNM_003482.3(KMT2D): c.11713C> T (p.Gln3905Ter)SNVPathogenicrs886042253GRCh37Chr 12, 49426775: 49426775
86KMT2DNM_003482.3(KMT2D): c.1966delC (p.Leu656Cysfs)deletionPathogenicrs886042284GRCh37Chr 12, 49445500: 49445500
87KMT2DNM_003482.3(KMT2D): c.9041_9042delTG (p.Leu3014Argfs)deletionPathogenicrs886043252GRCh37Chr 12, 49432097: 49432098
88KMT2DNM_003482.3(KMT2D): c.5104C> T (p.Arg1702Ter)SNVPathogenicrs886043414GRCh37Chr 12, 49438067: 49438067
89KMT2DNM_003482.3(KMT2D): c.7643dupA (p.Pro2549Alafs)duplicationPathogenicrs886043495GRCh37Chr 12, 49433910: 49433910
90KMT2DNM_003482.3(KMT2D): c.13324delG (p.Ala4442Hisfs)deletionPathogenicrs886043505GRCh37Chr 12, 49425164: 49425164
91KMT2DNM_003482.3(KMT2D): c.5124_5125delAC (p.Arg1709Hisfs)deletionPathogenicrs886043506GRCh37Chr 12, 49438046: 49438047
92KMT2DNM_003482.3(KMT2D): c.14075+1G> ASNVPathogenicGRCh37Chr 12, 49423183: 49423183
93KMT2DNM_003482.3(KMT2D): c.15536G> A (p.Arg5179His)SNVPathogenicrs267607237GRCh37Chr 12, 49420213: 49420213
94KMT2DNM_003482.3(KMT2D): c.13579A> T (p.Lys4527Ter)SNVPathogenicrs267607240GRCh37Chr 12, 49424768: 49424768
95KMT2DNM_003482.3(KMT2D): c.16360C> T (p.Arg5454Ter)SNVPathogenicrs267607239GRCh37Chr 12, 49416115: 49416115
96KMT2DNM_003482.3(KMT2D): c.16391C> T (p.Thr5464Met)SNVPathogenicrs267607238GRCh37Chr 12, 49416084: 49416084
97KMT2DNM_003482.3(KMT2D): c.10623_10629delTCTGTGTinsCGCAAGTCACG (p.Leu3542Alafs)indelPathogenicrs398123699GRCh37Chr 12, 49427961: 49427967
98KMT2DNM_003482.3(KMT2D): c.10819C> T (p.Gln3607Ter)SNVPathogenicrs398123701GRCh37Chr 12, 49427669: 49427669
99KMT2DNM_003482.3(KMT2D): c.10834C> T (p.Gln3612Ter)SNVPathogenicrs398123702GRCh37Chr 12, 49427654: 49427654
100KMT2DNM_003482.3(KMT2D): c.11149C> T (p.Gln3717Ter)SNVPathogenicrs398123704GRCh37Chr 12, 49427339: 49427339
101KMT2DNM_003482.3(KMT2D): c.11201_11202delTG (p.Leu3734Profs)deletionPathogenicrs398123706GRCh37Chr 12, 49427286: 49427287
102KMT2DNM_003482.3(KMT2D): c.11692C> T (p.Gln3898Ter)SNVPathogenicrs398123708GRCh37Chr 12, 49426796: 49426796
103KMT2DNM_003482.3(KMT2D): c.12406C> T (p.Gln4136Ter)SNVPathogenicrs398123711GRCh37Chr 12, 49426082: 49426082
104KMT2DNM_003482.3(KMT2D): c.12430C> T (p.Gln4144Ter)SNVPathogenicrs398123712GRCh37Chr 12, 49426058: 49426058
105KMT2DNM_003482.3(KMT2D): c.1300dupC (p.Leu434Profs)duplicationPathogenicrs398123715GRCh37Chr 12, 49446166: 49446166
106KMT2DNM_003482.3(KMT2D): c.13032delC (p.Lys4345Asnfs)deletionPathogenicrs398123716GRCh37Chr 12, 49425456: 49425456
107KMT2DNM_003482.3(KMT2D): c.14580dupT (p.Asp4861Terfs)duplicationPathogenicrs398123720GRCh37Chr 12, 49421649: 49421649
108KMT2DNM_003482.3(KMT2D): c.14710C> T (p.Arg4904Ter)SNVPathogenicrs398123721GRCh37Chr 12, 49421039: 49421039
109KMT2DNM_003482.3(KMT2D): c.15030dupA (p.Glu5011Argfs)duplicationPathogenicrs398123722GRCh37Chr 12, 49420719: 49420719
110KMT2DNM_003482.3(KMT2D): c.15953_15956delTATT (p.Leu5318Serfs)deletionPathogenicrs398123732GRCh37Chr 12, 49418457: 49418460
111KMT2DNM_003482.3(KMT2D): c.16109delG (p.Gly5370Alafs)deletionPathogenicrs398123733GRCh37Chr 12, 49416602: 49416602
112KMT2DNM_003482.3(KMT2D): c.16306_16322del17insC (p.Ala5436Glnfs)indelPathogenicrs398123735GRCh37Chr 12, 49416389: 49416405
113KMT2DNM_003482.3(KMT2D): c.3532C> T (p.Gln1178Ter)SNVPathogenicrs398123741GRCh37Chr 12, 49443839: 49443839
114KMT2DNM_003482.3(KMT2D): c.3834_3846delTATCAGCGGAGGC (p.Ile1279Lysfs)deletionPathogenicrs398123743GRCh37Chr 12, 49443525: 49443537
115KMT2DNM_003482.3(KMT2D): c.4135_4136delAT (p.Met1379Valfs)deletionPathogenicrs398123744GRCh37Chr 12, 49441848: 49441849
116KMT2DNM_003482.3(KMT2D): c.5645-2A> GSNVPathogenicrs398123750GRCh37Chr 12, 49436663: 49436663
117KMT2DNM_003482.3(KMT2D): c.5908_5915delGACAGCCC (p.Asp1970Leufs)deletionLikely pathogenic, Pathogenicrs398123751GRCh37Chr 12, 49436066: 49436073
118KMT2DNM_003482.3(KMT2D): c.6595delT (p.Tyr2199Ilefs)deletionLikely pathogenic, Pathogenicrs398123753GRCh37Chr 12, 49434958: 49434958
119KMT2DNM_003482.3(KMT2D): c.7066C> T (p.Gln2356Ter)SNVPathogenicrs398123757GRCh37Chr 12, 49434487: 49434487
120KMT2DNM_003482.3(KMT2D): c.7140delG (p.Gln2380Hisfs)deletionPathogenicrs398123758GRCh37Chr 12, 49434413: 49434413

Copy number variations for Kabuki Syndrome 1 from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1150617201190000017800000MicrodeletionC20orf133Kabuki syndrome

Expression for genes affiliated with Kabuki Syndrome 1

About this section
Search GEO for disease gene expression data for Kabuki Syndrome 1.

Pathways for genes affiliated with Kabuki Syndrome 1

About this section

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

idSuper pathwaysScoreTop Affiliating Genes
110.2RAP1A, RAP1B

GO Terms for genes affiliated with Kabuki Syndrome 1

About this section

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

idNameGO IDScoreTop Affiliating Genes
1histone methyltransferase complexGO:003509710.1ASH2L, KDM6A, KMT2B, KMT2D
2MLL3/4 complexGO:004466610.1ASH2L, KDM6A, KMT2D

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1establishment of endothelial barrierGO:006102810.7RAP1A, RAP1B
2microvillus assemblyGO:003003310.6RAP1A, RAP1B
3negative regulation of synaptic vesicle exocytosisGO:200030110.6RAP1A, RAP1B
4Rap protein signal transductionGO:003248610.5RAP1A, RAP1B
5regulation of cell junction assemblyGO:190188810.5RAP1A, RAP1B
6histone H3-K4 methylationGO:005156810.4ASH2L, KDM6A, KMT2B, KMT2D
7response to carbohydrateGO:000974310.2RAP1A, RAP1B

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

idNameGO IDScoreTop Affiliating Genes
1histone methyltransferase activity (H3-K4 specific)GO:004280010.5ASH2L, KMT2B, KMT2D
2histone-lysine N-methyltransferase activityGO:001802410.0ASH2L, KMT2B, KMT2D

Sources for Kabuki Syndrome 1

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet