MCID: KBK003
MIFTS: 24

Kabuki Syndrome 2

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

Aliases & Classifications for Kabuki Syndrome 2

MalaCards integrated aliases for Kabuki Syndrome 2:

Name: Kabuki Syndrome 2 53 71 28 13 69
Kabuk2 53 71

Characteristics:

OMIM:

53
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 : 53 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 hyperinsulinism, and has symptoms including seizures, high palate and dental malocclusion. An important gene associated with Kabuki Syndrome 2 is KDM6A (Lysine Demethylase 6A). Affiliated tissues include heart and breast.

UniProtKB/Swiss-Prot : 71 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 9.7
2 hyperinsulinism 9.7

Symptoms & Phenotypes for Kabuki Syndrome 2

Symptoms via clinical synopsis from OMIM:

53
NeurologicCentralNervousSystem:
seizures
hypotonia
developmental delay, mild to severe

AbdomenGastrointestinal:
feeding difficulties in infancy

MetabolicFeatures:
neonatal hypoglycemia

SkinNailsHairHair:
hirsutism
long eyelashes sparse lateral eyebrows

HeadAndNeckEars:
prominent ears
cupped ears (in some patients)
large auricle

Skeletal:
joint hyperlaxity

GrowthHeight:
less than third centile

HeadAndNeckHead:
occipitofrontal circumference less than third centile

ChestBreasts:
areolar fullness in infancy

HeadAndNeckTeeth:
dental malocclusion
hypodontia
abnormal dentition
neonatal teeth (rare)

HeadAndNeckEyes:
strabismus
long palpebral fissure
long eyelashes
sparse lateral eyebrows
arched eyebrows
more
HeadAndNeckNose:
short columella
broad and/or depressed tip of nose

HeadAndNeckMouth:
high-arched palate
cleft palate (rare)

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

SkeletalHands:
brachydactyly (in some patients)
persistent fetal fingertip pads

GrowthWeight:
less than third centile

CardiovascularVascular:
aortic coarctation (in some patients)

NeurologicBehavioralPsychiatricManifestations:
behavioral difficulties


Clinical features from OMIM:

300867

Human phenotypes related to Kabuki Syndrome 2:

31 (show all 35)
# Description HPO Frequency HPO Source Accession
1 seizures 31 HP:0001250
2 high palate 31 HP:0000218
3 dental malocclusion 31 HP:0000689
4 behavioral abnormality 31 HP:0000708
5 global developmental delay 31 HP:0001263
6 microcephaly 31 HP:0000252
7 short stature 31 HP:0004322
8 feeding difficulties in infancy 31 HP:0008872
9 cleft palate 31 occasional (7.5%) HP:0000175
10 strabismus 31 HP:0000486
11 atrial septal defect 31 occasional (7.5%) HP:0001631
12 coarctation of aorta 31 occasional (7.5%) HP:0001680
13 protruding ear 31 HP:0000411
14 brachydactyly 31 occasional (7.5%) HP:0001156
15 broad nasal tip 31 HP:0000455
16 hypodontia 31 HP:0000668
17 pulmonic stenosis 31 occasional (7.5%) HP:0001642
18 highly arched eyebrow 31 HP:0002553
19 long palpebral fissure 31 HP:0000637
20 long eyelashes 31 HP:0000527
21 decreased body weight 31 HP:0004325
22 sparse lateral eyebrow 31 HP:0005338
23 atrioventricular canal defect 31 occasional (7.5%) HP:0006695
24 neonatal hypoglycemia 31 HP:0001998
25 depressed nasal tip 31 HP:0000437
26 cupped ear 31 occasional (7.5%) HP:0000378
27 short columella 31 HP:0002000
28 generalized hypotonia 31 HP:0001290
29 hirsutism 31 HP:0001007
30 generalized joint laxity 31 HP:0002761
31 natal tooth 31 occasional (7.5%) HP:0000695
32 eversion of lateral third of lower eyelids 31 HP:0007655
33 abnormality of the breast 31 HP:0000769
34 prominent fingertip pads 31 HP:0001212
35 central hypotonia 31 HP:0011398

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 28 KDM6A

Anatomical Context for Kabuki Syndrome 2

MalaCards organs/tissues related to Kabuki Syndrome 2:

38
Heart, Breast

Publications for Kabuki Syndrome 2

Articles related to Kabuki Syndrome 2:

# Title Authors Year
1
Persistent Hyperinsulinism in Kabuki Syndrome 2: Case Report and Literature Review. ( 27777708 )
2016

Variations for Kabuki Syndrome 2

ClinVar genetic disease variations for Kabuki Syndrome 2:

6 (show all 19)
# Gene Variation Type Significance SNP ID Assembly Location
1 KDM6A NG_016260.1: g.138880_185296del46417 deletion Pathogenic GRCh37 Chromosome X, 44866302: 44912718
2 KDM6A NM_001291415.1(KDM6A): c.3873G> A (p.Trp1291Ter) single nucleotide variant Pathogenic rs398122929 GRCh37 Chromosome X, 44949156: 44949156
3 KDM6A NM_001291415.1(KDM6A): c.1711C> T (p.Arg571Ter) single nucleotide variant Pathogenic rs397514628 GRCh37 Chromosome X, 44922694: 44922694
4 KDM6A NM_001291415.1(KDM6A): c.3510_3512delTCT (p.Leu1171del) deletion Pathogenic rs398122829 GRCh37 Chromosome X, 44942774: 44942776
5 KDM6A NM_001291415.1(KDM6A): c.2065_2068delTCTA (p.Ser689Thrfs) deletion Pathogenic rs398122969 GRCh37 Chromosome X, 44923048: 44923051
6 KDM6A NM_021140.3(KDM6A): c.752G> A (p.Trp251Ter) single nucleotide variant Likely pathogenic rs793888509 GRCh37 Chromosome X, 44913077: 44913077
7 KDM6A NM_021140.3(KDM6A): c.3736+2T> C single nucleotide variant Likely pathogenic rs793888510 GRCh37 Chromosome X, 44949177: 44949177
8 subset of 15 genes:KDM6A; MAOA; NDP; RP2; ZNF674 NC_000023.10: g.(?_43479884)_(46741003_?)del deletion Likely pathogenic GRCh37 Chromosome X, 43479884: 46741003
9 CXorf36; DUSP21; EFHC2; FUNDC1; KDM6A; MAOA; MAOB; NDP NC_000023.10: g.(?_43479884)_(45501849_?)del deletion Likely pathogenic GRCh37 Chromosome X, 43479884: 45501849
10 KDM6A NM_021140.3(KDM6A): c.2515_2518delAACA (p.Asn839Valfs) deletion Pathogenic rs786205676 GRCh38 Chromosome X, 45070170: 45070173
11 KDM6A NM_021140.3(KDM6A): c.2832+2dup duplication Likely pathogenic rs797045643 GRCh37 Chromosome X, 44936073: 44936073
12 KDM6A NM_021140.3(KDM6A): c.1543delG (p.Val515Leufs) deletion Pathogenic rs797045642 GRCh38 Chromosome X, 45063437: 45063437
13 KDM6A NM_021140.3(KDM6A): c.3635A> G (p.Gln1212Arg) single nucleotide variant Likely pathogenic rs797045644 GRCh38 Chromosome X, 45089829: 45089829
14 KDM6A NM_021140.3(KDM6A): c.3835C> T (p.Arg1279Ter) single nucleotide variant Likely pathogenic rs863224886 GRCh38 Chromosome X, 45090821: 45090821
15 KDM6A NM_001291415.1(KDM6A): c.151G> T (p.Gly51Ter) single nucleotide variant Pathogenic rs886043476 GRCh37 Chromosome X, 44732948: 44732948
16 KDM6A NM_021140.3(KDM6A): c.3598C> T (p.Leu1200Phe) single nucleotide variant Likely pathogenic rs1060499665 GRCh38 Chromosome X, 45089792: 45089792
17 KDM6A NM_001291415.1(KDM6A): c.2988+1G> C single nucleotide variant Pathogenic rs1135401809 GRCh37 Chromosome X, 44936072: 44936072
18 KDM6A NM_001291415.1(KDM6A): c.2257_2260dup (p.His754Leufs) duplication Pathogenic GRCh38 Chromosome X, 45069756: 45069759
19 KDM6A NM_021140.3(KDM6A): c.3016C> T (p.Gln1006Ter) single nucleotide variant Pathogenic GRCh38 Chromosome X, 45079223: 45079223

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
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50 NINDS
51 Novoseek
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58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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