KABUK2
MCID: KBK003
MIFTS: 31

Kabuki Syndrome 2 (KABUK2)

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

Aliases & Classifications for Kabuki Syndrome 2

MalaCards integrated aliases for Kabuki Syndrome 2:

Name: Kabuki Syndrome 2 56 73 29 13 6 71
Kabuk2 56 73
Kabuki Syndrome, Type 2 39

Characteristics:

OMIM:

56
Inheritance:
x-linked dominant

Miscellaneous:
severity of phenotype may vary with x-inactivation patterns and/or mutation type


HPO:

31
kabuki syndrome 2:
Inheritance x-linked dominant inheritance


Classifications:



Summaries for Kabuki Syndrome 2

OMIM : 56 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). For a discussion of genetic heterogeneity of Kabuki syndrome, see KABUK1 (147920). (300867)

MalaCards based summary : Kabuki Syndrome 2, also known as kabuk2, is related to kabuki syndrome 1 and alacrima, achalasia, and mental retardation syndrome, and has symptoms including seizures An important gene associated with Kabuki Syndrome 2 is KDM6A (Lysine Demethylase 6A). Affiliated tissues include heart and brain, and related phenotypes are atrial septal defect and coarctation of aorta

UniProtKB/Swiss-Prot : 73 Kabuki syndrome 2: 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.

Related Diseases for Kabuki Syndrome 2

Diseases in the Kabuki Syndrome 1 family:

Kabuki Syndrome 2

Diseases related to Kabuki Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 kabuki syndrome 1 10.0
2 alacrima, achalasia, and mental retardation syndrome 9.9
3 hyperinsulinism 9.9
4 hypoglycemia 9.9

Symptoms & Phenotypes for Kabuki Syndrome 2

Human phenotypes related to Kabuki Syndrome 2:

31 (show all 49)
# Description HPO Frequency HPO Source Accession
1 atrial septal defect 31 occasional (7.5%) HP:0001631
2 coarctation of aorta 31 occasional (7.5%) HP:0001680
3 brachydactyly 31 occasional (7.5%) HP:0001156
4 pulmonic stenosis 31 occasional (7.5%) HP:0001642
5 atrioventricular canal defect 31 occasional (7.5%) HP:0006695
6 cupped ear 31 occasional (7.5%) HP:0000378
7 natal tooth 31 occasional (7.5%) HP:0000695
8 hearing impairment 31 very rare (1%) HP:0000365
9 intellectual disability 31 very rare (1%) HP:0001249
10 global developmental delay 31 very rare (1%) HP:0001263
11 macrotia 31 very rare (1%) HP:0000400
12 microcephaly 31 very rare (1%) HP:0000252
13 short stature 31 very rare (1%) HP:0004322
14 cleft palate 31 very rare (1%) HP:0000175
15 intrauterine growth retardation 31 very rare (1%) HP:0001511
16 postnatal growth retardation 31 very rare (1%) HP:0008897
17 high palate 31 very rare (1%) HP:0000218
18 micrognathia 31 very rare (1%) HP:0000347
19 low-set ears 31 very rare (1%) HP:0000369
20 recurrent otitis media 31 very rare (1%) HP:0000403
21 epicanthus 31 very rare (1%) HP:0000286
22 joint laxity 31 very rare (1%) HP:0001388
23 highly arched eyebrow 31 very rare (1%) HP:0002553
24 protruding ear 31 very rare (1%) HP:0000411
25 hip dislocation 31 very rare (1%) HP:0002827
26 hypodontia 31 very rare (1%) HP:0000668
27 blue sclerae 31 very rare (1%) HP:0000592
28 neonatal hypoglycemia 31 very rare (1%) HP:0001998
29 depressed nasal tip 31 very rare (1%) HP:0000437
30 short columella 31 very rare (1%) HP:0002000
31 hirsutism 31 very rare (1%) HP:0001007
32 generalized hypotonia 31 very rare (1%) HP:0001290
33 lower lip pit 31 very rare (1%) HP:0000196
34 short 5th finger 31 very rare (1%) HP:0009237
35 long palpebral fissure 31 very rare (1%) HP:0000637
36 eversion of lateral third of lower eyelids 31 very rare (1%) HP:0007655
37 prominent fingertip pads 31 very rare (1%) HP:0001212
38 seizure 31 very rare (1%) HP:0001250
39 areolar fullness 31 very rare (1%) HP:0032315
40 behavioral abnormality 31 HP:0000708
41 muscular hypotonia 31 HP:0001252
42 dental malocclusion 31 HP:0000689
43 feeding difficulties in infancy 31 HP:0008872
44 strabismus 31 HP:0000486
45 decreased body weight 31 HP:0004325
46 sparse lateral eyebrow 31 HP:0005338
47 long eyelashes 31 HP:0000527
48 broad nasal tip 31 HP:0000455
49 central hypotonia 31 HP:0011398

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Teeth:
dental malocclusion
hypodontia
abnormal dentition
neonatal teeth (rare)

Abdomen Gastrointestinal:
feeding difficulties in infancy

Metabolic Features:
neonatal hypoglycemia

Skin Nails Hair Hair:
hirsutism
long eyelashes sparse lateral eyebrows

Head And Neck Ears:
prominent ears
cupped ears (in some patients)
large auricle

Skeletal:
joint hyperlaxity

Growth Height:
less than third centile

Head And Neck Head:
occipitofrontal circumference less than third centile

Chest Breasts:
areolar fullness in infancy

Neurologic Central Nervous System:
seizures
hypotonia
developmental delay, mild to severe

Head And Neck Eyes:
strabismus
long eyelashes
long palpebral fissure
arched eyebrows
sparse lateral eyebrows
more
Head And Neck Nose:
short columella
broad and/or depressed tip of nose

Head And Neck Mouth:
high-arched palate
cleft palate (rare)

Cardiovascular Heart:
congenital heart disease
atrial septal defect (in some patients)
atrioventricular septal defect (rare)
pulmonary valve stenosis (rare)
hypoplastic right ventricle (rare)

Skeletal Hands:
brachydactyly (in some patients)
persistent fetal fingertip pads

Growth Weight:
less than third centile

Cardiovascular Vascular:
aortic coarctation (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
behavioral difficulties

Clinical features from OMIM:

300867

UMLS symptoms related to Kabuki Syndrome 2:


seizures

Drugs & Therapeutics for Kabuki Syndrome 2

Search Clinical Trials , NIH Clinical Center for Kabuki Syndrome 2

Genetic Tests for Kabuki Syndrome 2

Genetic tests related to Kabuki Syndrome 2:

# Genetic test Affiliating Genes
1 Kabuki Syndrome 2 29 KDM6A

Anatomical Context for Kabuki Syndrome 2

MalaCards organs/tissues related to Kabuki Syndrome 2:

40
Heart, Brain

Publications for Kabuki Syndrome 2

Articles related to Kabuki Syndrome 2:

(show all 11)
# Title Authors PMID Year
1
A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A. 6 56
24664873 2014
2
MLL2 and KDM6A mutations in patients with Kabuki syndrome. 6 56
23913813 2013
3
KDM6A point mutations cause Kabuki syndrome. 56 6
23076834 2013
4
Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome. 6 56
22197486 2012
5
Kabuki syndrome: international consensus diagnostic criteria. 56
30514738 2019
6
Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development. 56
25972376 2015
7
Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients. 56
24633898 2014
8
Kabuki Syndrome 6
21882399 2011
9
Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency. 56
7277096 1981
10
A fetus with Kabuki syndrome 2 detected by chromosomal microarray analysis. 61
32211113 2020
11
Persistent Hyperinsulinism in Kabuki Syndrome 2: Case Report and Literature Review. 61
27777708 2016

Variations for Kabuki Syndrome 2

ClinVar genetic disease variations for Kabuki Syndrome 2:

6 (show top 50) (show all 55) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KDM6A NM_001291415.1(KDM6A):c.2988+1G>CSNV Pathogenic 431139 rs1135401809 X:44936072-44936072 X:45076827-45076827
2 KDM6A NM_021140.3(KDM6A):c.2101_2102TC[4] (p.His702fs)short repeat Pathogenic 471947 rs1556328781 X:44928999-44929000 X:45069754-45069755
3 KDM6A NM_021140.3(KDM6A):c.3016C>T (p.Gln1006Ter)SNV Pathogenic 471948 rs1556341546 X:44938468-44938468 X:45079223-45079223
4 KDM6A NM_021140.3(KDM6A):c.2462_2463del (p.Ser821fs)deletion Pathogenic 539319 rs1556330304 X:44929362-44929363 X:45070117-45070118
5 KDM6A NM_021140.3(KDM6A):c.2832+1G>ASNV Pathogenic 545065 rs1135401809 X:44936072-44936072 X:45076827-45076827
6 KDM6A NM_021140.3(KDM6A):c.1392_1395TCAT[3] (p.Trp467fs)short repeat Pathogenic 559639 rs1556311265 X:44920630-44920631 X:45061385-45061386
7 KDM6A NM_021140.3(KDM6A):c.2646_2647dup (p.Pro883fs)duplication Pathogenic 637050 X:44929545-44929546 X:45070300-45070301
8 KDM6A NM_021140.3(KDM6A):c.4051C>T (p.Arg1351Ter)SNV Pathogenic 644617 X:44969369-44969369 X:45110124-45110124
9 KDM6A NM_001291415.2(KDM6A):c.493C>T (p.Arg165Ter)SNV Pathogenic 692010 X:44879904-44879904 X:45020659-45020659
10 KDM6A NM_001291415.2(KDM6A):c.3198del (p.Thr1067fs)deletion Pathogenic 692059 X:44938492-44938492 X:45079247-45079247
11 KDM6A NM_021140.3(KDM6A):c.3351_3353TCT[1] (p.Leu1119del)short repeat Pathogenic 39994 rs398122829 X:44942771-44942773 X:45083526-45083528
12 KDM6A nsv1067838deletion Pathogenic 29935 X:44866302-44912718 X:45007057-45053473
13 KDM6A NM_021140.3(KDM6A):c.3717G>A (p.Trp1239Ter)SNV Pathogenic 39992 rs398122929 X:44949156-44949156 X:45089911-45089911
14 KDM6A NM_021140.3(KDM6A):c.1555C>T (p.Arg519Ter)SNV Pathogenic 39993 rs397514628 X:44922694-44922694 X:45063449-45063449
15 KDM6A NM_021140.3(KDM6A):c.1909_1912del (p.Ser637fs)deletion Pathogenic 91403 rs398122969 X:44923045-44923048 X:45063800-45063803
16 KDM6A NM_001291415.2(KDM6A):c.2608del (p.Ser870fs)deletion Pathogenic 861724 X:44929351-44929351 X:45070106-45070106
17 KDM6A NM_021140.3(KDM6A):c.1543del (p.Val515fs)deletion Pathogenic 211254 rs797045642 X:44922682-44922682 X:45063437-45063437
18 KDM6A NM_021140.3(KDM6A):c.2515_2518del (p.Asn839fs)deletion Pathogenic 190247 rs786205676 X:44929412-44929415 X:45070167-45070170
19 KDM6A NM_021140.3(KDM6A):c.2832+2dupduplication Likely pathogenic 211256 rs797045643 X:44936072-44936073 X:45076827-45076828
20 KDM6A NM_021140.3(KDM6A):c.3635A>G (p.Gln1212Arg)SNV Likely pathogenic 211257 rs797045644 X:44949074-44949074 X:45089829-45089829
21 KDM6A NM_021140.3(KDM6A):c.3835C>T (p.Arg1279Ter)SNV Likely pathogenic 216950 rs863224886 X:44950066-44950066 X:45090821-45090821
22 KDM6A NM_021140.3(KDM6A):c.3584C>T (p.Pro1195Leu)SNV Likely pathogenic 648826 X:44949023-44949023 X:45089778-45089778
23 KDM6A NM_021140.3(KDM6A):c.752G>A (p.Trp251Ter)SNV Likely pathogenic 183368 rs793888509 X:44913077-44913077 X:45053832-45053832
24 DIPK2B , DUSP21 , EFHC2 , FUNDC1 , KDM6A , MAOA , MAOB , NDP NC_000023.10:g.(?_43479884)_(45501849_?)deldeletion Likely pathogenic 183367 X:43479884-45501849
25 KDM6A NM_021140.3(KDM6A):c.3736+2T>CSNV Likely pathogenic 183369 rs793888510 X:44949177-44949177 X:45089932-45089932
26 subset of 15 genes: KDM6A , MAOA , NDP , RP2 , ZNF674 NC_000023.10:g.(?_43479884)_(46741003_?)deldeletion Likely pathogenic 183366 X:43479884-46741003
27 KDM6A NM_021140.3(KDM6A):c.1425+1G>TSNV Likely pathogenic 654686 X:44920665-44920665 X:45061420-45061420
28 KDM6A NM_021140.3(KDM6A):c.3144+1G>ASNV Likely pathogenic 663689 X:44938597-44938597 X:45079352-45079352
29 KDM6A NM_021140.3(KDM6A):c.4161T>A (p.Tyr1387Ter)SNV Likely pathogenic 689653 X:44969479-44969479 X:45110234-45110234
30 KDM6A NM_001291415.2(KDM6A):c.4101dup (p.Glu1368fs)duplication Likely pathogenic 620000 rs1569542167 X:44966717-44966718 X:45107472-45107473
31 KDM6A NM_021140.3(KDM6A):c.3769G>T (p.Glu1257Ter)SNV Likely pathogenic 559936 rs1556357274 X:44950000-44950000 X:45090755-45090755
32 KDM6A NM_021140.3(KDM6A):c.2938+2T>CSNV Likely pathogenic 582366 rs1569537333 X:44937752-44937752 X:45078507-45078507
33 KDM6A NM_021140.3(KDM6A):c.3598C>T (p.Leu1200Phe)SNV Likely pathogenic 397533 rs1060499665 X:44949037-44949037 X:45089792-45089792
34 KDM6A NM_021140.3(KDM6A):c.250A>G (p.Ile84Val)SNV Conflicting interpretations of pathogenicity 488374 rs1373790479 X:44820553-44820553 X:44961308-44961308
35 KDM6A NM_021140.3(KDM6A):c.2473A>G (p.Thr825Ala)SNV Uncertain significance 640293 X:44929373-44929373 X:45070128-45070128
36 KDM6A NM_021140.3(KDM6A):c.3457T>C (p.Cys1153Arg)SNV Uncertain significance 658661 X:44945133-44945133 X:45085888-45085888
37 KDM6A NM_021140.3(KDM6A):c.3763C>T (p.Arg1255Trp)SNV Uncertain significance 565844 rs1450363794 X:44949994-44949994 X:45090749-45090749
38 KDM6A NM_021140.3(KDM6A):c.563A>G (p.Lys188Arg)SNV Uncertain significance 561041 rs1569521751 X:44879974-44879974 X:45020729-45020729
39 KDM6A NM_021140.3(KDM6A):c.3458G>A (p.Cys1153Tyr)SNV Uncertain significance 545087 rs1556350571 X:44945134-44945134 X:45085889-45085889
40 KDM6A NM_001291415.2(KDM6A):c.3301G>A (p.Glu1101Lys)SNV Uncertain significance 870634 X:44941821-44941821 X:45082576-45082576
41 KDM6A NM_021140.3(KDM6A):c.4052G>A (p.Arg1351Gln)SNV Uncertain significance 158691 rs370765411 X:44969370-44969370 X:45110125-45110125
42 KDM6A NM_001291415.2(KDM6A):c.2970A>G (p.Pro990=)SNV Likely benign 772602 X:44936053-44936053 X:45076808-45076808
43 KDM6A NM_001291415.2(KDM6A):c.4254C>T (p.Ser1418=)SNV Likely benign 778791 X:44969416-44969416 X:45110171-45110171
44 KDM6A NM_001291415.2(KDM6A):c.1874C>T (p.Ser625Phe)SNV Likely benign 811049 X:44922857-44922857 X:45063612-45063612
45 KDM6A NM_001291415.2(KDM6A):c.4255G>A (p.Gly1419Arg)SNV Likely benign 811686 X:44969417-44969417 X:45110172-45110172
46 KDM6A NM_021140.3(KDM6A):c.2177C>T (p.Thr726Met)SNV Benign/Likely benign 379452 rs2230018 X:44929077-44929077 X:45069832-45069832
47 KDM6A NM_021140.3(KDM6A):c.1751C>T (p.Thr584Met)SNV Benign/Likely benign 284402 rs141353229 X:44922890-44922890 X:45063645-45063645
48 KDM6A NM_021140.3(KDM6A):c.1843C>G (p.Leu615Val)SNV Benign/Likely benign 134596 rs112725812 X:44922982-44922982 X:45063737-45063737
49 KDM6A NM_021140.3(KDM6A):c.48_50dupshort repeat Benign 193446 rs797044622 X:44732836-44732837 X:44873590-44873591
50 KDM6A NM_021140.3(KDM6A):c.1527+3G>ASNV Benign 261406 rs61751429 X:44921996-44921996 X:45062751-45062751

Expression for Kabuki Syndrome 2

Search GEO for disease gene expression data for Kabuki Syndrome 2.

Pathways for Kabuki Syndrome 2

GO Terms for Kabuki Syndrome 2

Sources for Kabuki Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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