MCID: KBK002
MIFTS: 42

Kabuki Syndrome 1 malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Fetal diseases categories

Aliases & Classifications for Kabuki Syndrome 1

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Sources:
45OMIM, 10diseasecard, 19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 47Orphanet, 22GTR, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Kabuki Syndrome 1, Aliases & Descriptions:

Name: Kabuki Syndrome 1 45 10
Kabuki Syndrome 19 41 20 21 47
Kabuki Make-Up Syndrome 19 41 21 47
Niikawa-Kuroki Syndrome 19 41 21 47
 
Kabuki Make Up Syndrome 41 22
Kms 41 21
Kabuki Makeup Syndrome 21
Nks 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
kabuki syndrome:
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: any age


External Ids:

OMIM45 147920
Orphanet47 2322
MESH via Orphanet34 C537705
ICD10 via Orphanet26 Q87.0
UMLS via Orphanet61 C0796004

Summaries for Kabuki Syndrome 1

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OMIM:45 Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a... (147920) more...

MalaCards based summary: Kabuki Syndrome 1, also known as kabuki syndrome, is related to melanoma and kabuki syndrome 2, 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 (K)-specific methyltransferase 2D). Affiliated tissues include eye, heart and kidney.

Genetics Home Reference:21 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.

NIH Rare Diseases:41 Kabuki syndrome is a condition, present at birth, which affects many parts of the body. affected individuals have facial features that resemble the make-up worn by actors of kabuki, a japanese theatrical form. facial characteristics of kabuki syndrome may include long eye openings that slant upwards, arched eyebrows, prominent ears, and corners of the mouth that turn downwards. this syndrome typically causes mild to moderate intellectual disability as well as problems involving the heart, skeleton, teeth, and immune system. kabuki syndrome is inherited in an autosomal dominant pattern. most causes are caused by mutations in the mll2 gene. last updated: 9/8/2011

Wikipedia:63 Kabuki syndrome, also previously known as Kabuki makeup syndrome, KMS or Niikawa?Kuroki Syndrome, is a... more...

GeneReviews summary for kabuki

Related Diseases for Kabuki Syndrome 1

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Diseases in the Kabuki Syndrome 1 family:

Kabuki Syndrome 2 Kmt2d-Related Kabuki Syndrome
Kdm6a-Related Kabuki Syndrome

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

(show top 50)    (show all 336)
idRelated DiseaseScoreTop Affiliating Genes
1melanoma10.5
2kabuki syndrome 210.5
3endotheliitis10.5
4hiv-110.4
5hepatitis c10.4
6severe immunodeficiency, autosomal recessive, t-cell negative, b-cell negative, nk cell-positive10.4
7myeloma10.4
8hardikar syndrome10.4
9mondini dysplasia10.4
10natural killer cell leukemia10.4
11multiple myeloma10.4
12hematopoietic stem cell transplantation10.4
13extranodal nasal nk/t cell lymphoma10.4
14severe combined immunodeficiency10.3
15hepatitis c virus10.3
16peripheral t-cell lymphoma10.3
17influenza10.3
18myeloid leukemia10.3
19van der woude syndrome10.3
20cutis laxa10.3
21retinal telangiectasia10.3
22retinitis10.3
23unilateral renal agenesis10.3
24severe combined immunodeficiency, b cell-negative10.3
25large granular lymphocyte leukemia10.3
26kmt2d-related kabuki syndrome10.3
27kdm6a-related kabuki syndrome10.3
28chronic lymphocytic leukemia10.3
29chronic nk-cell lymphocytosis10.3
30cd4+/cd56+ hematodermic neoplasm10.3
31neuroblastoma10.2
32hodgkin lymphoma10.2
33tuberculosis10.2
34isolated gonadotropin-releasing hormone deficiency10.2
35lung cancer10.2
36hepatitis b10.2
37vaccinia10.2
38colitis10.2
39chronic active epstein-barr virus infection10.2
40hypoplastic left heart syndrome10.2
41purpura10.2
42aortic coarctation10.2
43growth hormone deficiency10.2
44breast cancer10.2
45wiskott-aldrich syndrome10.2
46arthritis10.2
47paroxysmal nocturnal hemoglobinuria10.2
48ulcerative colitis10.2
49eclampsia10.2
50adenocarcinoma10.2

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



Diseases related to kabuki syndrome 1

Symptoms for Kabuki Syndrome 1

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Symptoms by clinical synopsis from OMIM:

147920

Clinical features from OMIM:

147920

Symptoms:

 47 (show all 55)
  • high arched eyebrows
  • lateral thinning of eyebrows
  • ectropion/entropion/eyelid eversion
  • long/thick/curved lashes/trichomegaly/polytrichia
  • short columella/depressed nasal tip
  • prominent/bat ears
  • long/large ear
  • abnormal vertebral size/shape
  • short hand/brachydactyly
  • abnormal dermatoglyphics
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • autosomal dominant inheritance
  • microcephaly
  • blue sclerae
  • strabismus/squint
  • ptosis
  • lateral cleft lip/gingival cleft/paramedian nasal cleft
  • high vaulted/narrow palate
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • tooth shape anomaly
  • complete/partial microdontia
  • anodontia/oligodontia/hypodontia
  • abnormal dentition/dental position/implantation/unerupted/dental ankylosis
  • sensorineural deafness/hearing loss
  • conductive deafness/hearing loss
  • scoliosis
  • hypoplastic aorta/coarctation/stenosis/anomaly/aortic arch interruption
  • cardiac septal defect
  • dilated cerebral ventricles without hydrocephaly
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • hydrocephaly
  • hypotonia
  • hyperextensible joints/articular hyperlaxity
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • short stature/dwarfism/nanism
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • expressionless face/amimia
  • microcornea
  • retinoschisis/retinal/chorioretinal coloboma
  • nystagmus
  • lip pits/fistulae
  • preauricular/branchial tags/appendages
  • small hand/acromicria
  • diaphragmatic hernia/defect/agenesis
  • agenesis/hypoplasia/aplasia of kidneys
  • ectopic/horseshoe/fused kidneys
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • micropenis/small penis/agenesis
  • hypospadias/epispadias/bent penis
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • precocious puberty
  • eeg anomalies
  • seizures/epilepsy/absences/spasms/status epilepticus
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • generalized obesity

HPO human phenotypes related to Kabuki Syndrome 1:

(show all 98)
id Description Frequency HPO Source Accession
1 abnormality of the nose hallmark (90%) HP:0000366
2 macrotia hallmark (90%) HP:0000400
3 abnormality of the eyelashes hallmark (90%) HP:0000499
4 brachydactyly syndrome hallmark (90%) HP:0001156
5 highly arched eyebrow hallmark (90%) HP:0002553
6 abnormal form of the vertebral bodies hallmark (90%) HP:0003312
7 sparse lateral eyebrow hallmark (90%) HP:0005338
8 abnormal dermatoglyphics hallmark (90%) HP:0007477
9 cognitive impairment hallmark (90%) HP:0100543
10 cleft palate typical (50%) HP:0000175
11 hydrocephalus typical (50%) HP:0000238
12 microcephaly typical (50%) HP:0000252
13 conductive hearing impairment typical (50%) HP:0000405
14 sensorineural hearing impairment typical (50%) HP:0000407
15 strabismus typical (50%) HP:0000486
16 ptosis typical (50%) HP:0000508
17 blue sclerae typical (50%) HP:0000592
18 microdontia typical (50%) HP:0000691
19 muscular hypotonia typical (50%) HP:0001252
20 joint hypermobility typical (50%) HP:0001382
21 abnormality of the cardiac septa typical (50%) HP:0001671
22 abnormality of the aorta typical (50%) HP:0001679
23 ventriculomegaly typical (50%) HP:0002119
24 cerebral cortical atrophy typical (50%) HP:0002120
25 scoliosis typical (50%) HP:0002650
26 short stature typical (50%) HP:0004322
27 reduced number of teeth typical (50%) HP:0009804
28 abnormality of immune system physiology typical (50%) HP:0010978
29 non-midline cleft lip typical (50%) HP:0100335
30 cryptorchidism occasional (7.5%) HP:0000028
31 mask-like facies occasional (7.5%) HP:0000298
32 preauricular skin tag occasional (7.5%) HP:0000384
33 microcornea occasional (7.5%) HP:0000482
34 chorioretinal coloboma occasional (7.5%) HP:0000567
35 nystagmus occasional (7.5%) HP:0000639
36 congenital diaphragmatic hernia occasional (7.5%) HP:0000776
37 precocious puberty occasional (7.5%) HP:0000826
38 seizures occasional (7.5%) HP:0001250
39 obesity occasional (7.5%) HP:0001513
40 eeg abnormality occasional (7.5%) HP:0002353
41 abnormality of the hip bone occasional (7.5%) HP:0003272
42 short palm occasional (7.5%) HP:0004279
43 renal hypoplasia/aplasia occasional (7.5%) HP:0008678
44 hypoplasia of penis occasional (7.5%) HP:0008736
45 lip pit occasional (7.5%) HP:0100267
46 abnormal localization of kidney occasional (7.5%) HP:0100542
47 displacement of the external urethral meatus occasional (7.5%) HP:0100627
48 autosomal dominant inheritance HP:0000006
49 cryptorchidism HP:0000028
50 micropenis HP:0000054
51 ureteropelvic junction obstruction HP:0000074
52 abnormality of the teeth HP:0000164
53 cleft palate HP:0000175
54 high palate HP:0000218
55 microcephaly HP:0000252
56 posteriorly rotated ears HP:0000358
57 hearing impairment HP:0000365
58 macrotia HP:0000400
59 recurrent otitis media HP:0000403
60 wide nasal bridge HP:0000431
61 depressed nasal tip HP:0000437
62 strabismus HP:0000486
63 ptosis HP:0000508
64 sparse eyebrow HP:0000535
65 blue sclerae HP:0000592
66 long palpebral fissure HP:0000637
67 congenital hypothyroidism HP:0000851
68 cafe-au-lait spot HP:0000957
69 hirsutism HP:0001007
70 prominent fingertip pads HP:0001212
71 intellectual disability HP:0001249
72 seizures HP:0001250
73 muscular hypotonia HP:0001252
74 global developmental delay HP:0001263
75 congenital hip dislocation HP:0001374
76 joint hypermobility HP:0001382
77 ventricular septal defect HP:0001629
78 defect in the atrial septum HP:0001631
79 coarctation of aorta HP:0001680
80 hemolytic anemia HP:0001878
81 autoimmune thrombocytopenia HP:0001973
82 anal atresia HP:0002023
83 malabsorption HP:0002024
84 anal stenosis HP:0002025
85 recurrent aspiration pneumonia HP:0002100
86 highly arched eyebrow HP:0002553
87 intestinal malrotation HP:0002566
88 scoliosis HP:0002650
89 abnormality of the vertebrae HP:0003468
90 short stature HP:0004322
91 preauricular pit HP:0004467
92 crossed fused renal ectopia HP:0004736
93 anoperineal fistula HP:0005218
94 eversion of lateral third of lower eyelids HP:0007655
95 feeding difficulties in infancy HP:0008872
96 postnatal growth retardation HP:0008897
97 short 5th finger HP:0009237
98 premature thelarche HP:0010314

Drugs & Therapeutics for Kabuki Syndrome 1

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Drug clinical trials:

Search ClinicalTrials for Kabuki Syndrome 1

Search NIH Clinical Center for Kabuki Syndrome 1

Genetic Tests for Kabuki Syndrome 1

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Genetic tests related to Kabuki Syndrome 1:

id Genetic test Affiliating Genes
1 Kabuki Syndrome20 KDM6A
2 Kabuki Make-Up Syndrome22

Anatomical Context for Kabuki Syndrome 1

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MalaCards organs/tissues related to Kabuki Syndrome 1:

31
Eye, Heart, Kidney, Testes, Bone, Skin

Animal Models for Kabuki Syndrome 1 or affiliated genes

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Publications for Kabuki Syndrome 1

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Variations for Kabuki Syndrome 1

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

62
id Symbol AA change Variation ID SNP ID
1KMT2Dp.Cys5109PheVAR_063830
2KMT2Dp.Arg5179HisVAR_063831
3KMT2Dp.Arg5214HisVAR_063832
4KMT2Dp.Arg5340LeuVAR_063833
5KMT2Dp.Thr5464MetVAR_063834
6KMT2Dp.Tyr5210CysVAR_064378
7KMT2Dp.Gly5428AspVAR_064379

Clinvar genetic disease variations for Kabuki Syndrome 1:

6
id Gene Variation Type Significance SNP ID Assembly Location
1KDM6ANC_000023.11: g.45007057_45053473del46417deletionPathogenicGRCh37Chr X, 44866302: 44912718
2KDM6ANM_021140.3(KDM6A): c.3717G> A (p.Trp1239Ter)single nucleotide variantPathogenicrs398122929GRCh37Chr X, 44949156: 44949156
3KDM6ANM_021140.3(KDM6A): c.1555C> T (p.Arg519Ter)single nucleotide variantPathogenicrs397514628GRCh37Chr X, 44922694: 44922694
4KDM6ANM_021140.3(KDM6A): c.3354_3356delTCT (p.Leu1119del)deletionPathogenicrs398122829GRCh37Chr X, 44942774: 44942776
5KMT2DNM_003482.3(KMT2D): c.15536G> A (p.Arg5179His)single nucleotide variantPathogenicrs267607237GRCh37Chr 12, 49420213: 49420213
6KMT2DNM_003482.3(KMT2D): c.13579A> T (p.Lys4527Ter)single nucleotide variantPathogenicrs267607240GRCh37Chr 12, 49424768: 49424768
7KMT2DNM_003482.3(KMT2D): c.16360C> T (p.Arg5454Ter)single nucleotide variantPathogenicrs267607239GRCh37Chr 12, 49416115: 49416115
8KMT2DNM_003482.3(KMT2D): c.16391C> T (p.Thr5464Met)single nucleotide variantPathogenicrs267607238GRCh37Chr 12, 49416084: 49416084
9KDM6ANM_021140.3(KDM6A): c.1909_1912delTCTA (p.Ser637Thrfs)deletionPathogenicrs398122969GRCh37Chr X, 44923048: 44923051

Expression for genes affiliated with Kabuki Syndrome 1

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Search GEO for disease gene expression data for Kabuki Syndrome 1.

Pathways for genes affiliated with Kabuki Syndrome 1

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Compounds for genes affiliated with Kabuki Syndrome 1

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GO Terms for genes affiliated with Kabuki Syndrome 1

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

idNameGO IDScoreTop Affiliating Genes
1histone methyltransferase complexGO:00350979.1KMT2D, KDM6A

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

idNameGO IDScoreTop Affiliating Genes
1in utero embryonic developmentGO:00017019.1KMT2D, KDM6A
2histone H3-K4 methylationGO:00515688.8KMT2D, KDM6A

Products for genes affiliated with Kabuki Syndrome 1

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Kabuki Syndrome 1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet