MCID: KBK003
MIFTS: 24

Kabuki Syndrome 2

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

Aliases & Classifications for Kabuki Syndrome 2

MalaCards integrated aliases for Kabuki Syndrome 2:

Name: Kabuki Syndrome 2 57 75 29 13 6 73
Kabuk2 57 75
Kabuki Syndrome, Type 2 40

Characteristics:

OMIM:

57
Inheritance:
x-linked dominant

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


HPO:

32
kabuki syndrome 2:
Inheritance x-linked dominant inheritance


Classifications:



Summaries for Kabuki Syndrome 2

OMIM : 57 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 An important gene associated with Kabuki Syndrome 2 is KDM6A (Lysine Demethylase 6A). Affiliated tissues include heart, and related phenotypes are high palate and seizures

UniProtKB/Swiss-Prot : 75 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:

57
Neurologic Central Nervous System:
seizures
hypotonia
developmental delay, mild to severe

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

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

Head And Neck Eyes:
strabismus
long palpebral fissure
long eyelashes
sparse lateral eyebrows
arched 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

Human phenotypes related to Kabuki Syndrome 2:

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

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:

41
Heart

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 46)
# 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 NG_016260.1: g.138880_185296del46417 deletion Pathogenic GRCh38 Chromosome X, 45007057: 45053473
3 KDM6A NM_001291415.1(KDM6A): c.3873G> A (p.Trp1291Ter) single nucleotide variant Pathogenic rs398122929 GRCh37 Chromosome X, 44949156: 44949156
4 KDM6A NM_001291415.1(KDM6A): c.3873G> A (p.Trp1291Ter) single nucleotide variant Pathogenic rs398122929 GRCh38 Chromosome X, 45089911: 45089911
5 KDM6A NM_001291415.1(KDM6A): c.1711C> T (p.Arg571Ter) single nucleotide variant Pathogenic rs397514628 GRCh37 Chromosome X, 44922694: 44922694
6 KDM6A NM_001291415.1(KDM6A): c.1711C> T (p.Arg571Ter) single nucleotide variant Pathogenic rs397514628 GRCh38 Chromosome X, 45063449: 45063449
7 KDM6A NM_001291415.1(KDM6A): c.3510_3512delTCT (p.Leu1171del) deletion Pathogenic rs398122829 GRCh37 Chromosome X, 44942774: 44942776
8 KDM6A NM_001291415.1(KDM6A): c.3510_3512delTCT (p.Leu1171del) deletion Pathogenic rs398122829 GRCh38 Chromosome X, 45083529: 45083531
9 KDM6A NM_001291415.1(KDM6A): c.2065_2068delTCTA (p.Ser689Thrfs) deletion Pathogenic rs398122969 GRCh37 Chromosome X, 44923048: 44923051
10 KDM6A NM_001291415.1(KDM6A): c.2065_2068delTCTA (p.Ser689Thrfs) deletion Pathogenic rs398122969 GRCh38 Chromosome X, 45063803: 45063806
11 KDM6A NM_021140.3(KDM6A): c.4052G> A (p.Arg1351Gln) single nucleotide variant Uncertain significance rs370765411 GRCh37 Chromosome X, 44969370: 44969370
12 KDM6A NM_021140.3(KDM6A): c.4052G> A (p.Arg1351Gln) single nucleotide variant Uncertain significance rs370765411 GRCh38 Chromosome X, 45110125: 45110125
13 KDM6A NM_021140.3(KDM6A): c.752G> A (p.Trp251Ter) single nucleotide variant Likely pathogenic rs793888509 GRCh38 Chromosome X, 45053832: 45053832
14 KDM6A NM_021140.3(KDM6A): c.752G> A (p.Trp251Ter) single nucleotide variant Likely pathogenic rs793888509 GRCh37 Chromosome X, 44913077: 44913077
15 KDM6A NM_021140.3(KDM6A): c.3736+2T> C single nucleotide variant Likely pathogenic rs793888510 GRCh37 Chromosome X, 44949177: 44949177
16 KDM6A NM_021140.3(KDM6A): c.3736+2T> C single nucleotide variant Likely pathogenic rs793888510 GRCh38 Chromosome X, 45089932: 45089932
17 subset of 15 genes:KDM6A; MAOA; NDP; RP2; ZNF674 NC_000023.10: g.(?_43479884)_(46741003_?)del deletion Likely pathogenic GRCh37 Chromosome X, 43479884: 46741003
18 CXorf36; DUSP21; EFHC2; FUNDC1; KDM6A; MAOA; MAOB; NDP NC_000023.10: g.(?_43479884)_(45501849_?)del deletion Likely pathogenic GRCh37 Chromosome X, 43479884: 45501849
19 KDM6A NM_021140.3(KDM6A): c.2515_2518delAACA (p.Asn839Valfs) deletion Pathogenic rs786205676 GRCh38 Chromosome X, 45070170: 45070173
20 KDM6A NM_021140.3(KDM6A): c.2515_2518delAACA (p.Asn839Valfs) deletion Pathogenic rs786205676 GRCh37 Chromosome X, 44929415: 44929418
21 KDM6A NM_021140.3(KDM6A): c.1543delG (p.Val515Leufs) deletion Pathogenic rs797045642 GRCh38 Chromosome X, 45063437: 45063437
22 KDM6A NM_021140.3(KDM6A): c.1543delG (p.Val515Leufs) deletion Pathogenic rs797045642 GRCh37 Chromosome X, 44922682: 44922682
23 KDM6A NM_021140.3(KDM6A): c.2832+2dup duplication Likely pathogenic rs797045643 GRCh37 Chromosome X, 44936073: 44936073
24 KDM6A NM_021140.3(KDM6A): c.2832+2dup duplication Likely pathogenic rs797045643 GRCh38 Chromosome X, 45076828: 45076828
25 KDM6A NM_021140.3(KDM6A): c.3635A> G (p.Gln1212Arg) single nucleotide variant Likely pathogenic rs797045644 GRCh37 Chromosome X, 44949074: 44949074
26 KDM6A NM_021140.3(KDM6A): c.3635A> G (p.Gln1212Arg) single nucleotide variant Likely pathogenic rs797045644 GRCh38 Chromosome X, 45089829: 45089829
27 KDM6A NM_021140.3(KDM6A): c.3835C> T (p.Arg1279Ter) single nucleotide variant Likely pathogenic rs863224886 GRCh38 Chromosome X, 45090821: 45090821
28 KDM6A NM_021140.3(KDM6A): c.3835C> T (p.Arg1279Ter) single nucleotide variant Likely pathogenic rs863224886 GRCh37 Chromosome X, 44950066: 44950066
29 KDM6A NM_001291415.1(KDM6A): c.1907C> T (p.Thr636Met) single nucleotide variant Likely benign rs141353229 GRCh37 Chromosome X, 44922890: 44922890
30 KDM6A NM_001291415.1(KDM6A): c.1907C> T (p.Thr636Met) single nucleotide variant Likely benign rs141353229 GRCh38 Chromosome X, 45063645: 45063645
31 KDM6A NM_001291415.1(KDM6A): c.151G> T (p.Gly51Ter) single nucleotide variant Pathogenic rs886043476 GRCh37 Chromosome X, 44732948: 44732948
32 KDM6A NM_001291415.1(KDM6A): c.151G> T (p.Gly51Ter) single nucleotide variant Pathogenic rs886043476 GRCh38 Chromosome X, 44873702: 44873702
33 KDM6A NM_021140.3(KDM6A): c.3598C> T (p.Leu1200Phe) single nucleotide variant Likely pathogenic rs1060499665 GRCh38 Chromosome X, 45089792: 45089792
34 KDM6A NM_021140.3(KDM6A): c.3598C> T (p.Leu1200Phe) single nucleotide variant Likely pathogenic rs1060499665 GRCh37 Chromosome X, 44949037: 44949037
35 KDM6A NM_001291415.1(KDM6A): c.2988+1G> C single nucleotide variant Pathogenic rs1135401809 GRCh37 Chromosome X, 44936072: 44936072
36 KDM6A NM_001291415.1(KDM6A): c.2988+1G> C single nucleotide variant Pathogenic rs1135401809 GRCh38 Chromosome X, 45076827: 45076827
37 KDM6A NM_001291415.1(KDM6A): c.2257_2260dup (p.His754Leufs) duplication Pathogenic GRCh37 Chromosome X, 44929001: 44929004
38 KDM6A NM_001291415.1(KDM6A): c.2257_2260dup (p.His754Leufs) duplication Pathogenic GRCh38 Chromosome X, 45069756: 45069759
39 KDM6A NM_021140.3(KDM6A): c.3016C> T (p.Gln1006Ter) single nucleotide variant Pathogenic GRCh37 Chromosome X, 44938468: 44938468
40 KDM6A NM_021140.3(KDM6A): c.3016C> T (p.Gln1006Ter) single nucleotide variant Pathogenic GRCh38 Chromosome X, 45079223: 45079223
41 KDM6A NM_021140.3(KDM6A): c.3714T> C (p.Ala1238=) single nucleotide variant Benign rs142238688 GRCh37 Chromosome X, 44949153: 44949153
42 KDM6A NM_021140.3(KDM6A): c.3714T> C (p.Ala1238=) single nucleotide variant Benign rs142238688 GRCh38 Chromosome X, 45089908: 45089908
43 KDM6A NM_021140.3(KDM6A): c.250A> G (p.Ile84Val) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 44820553: 44820553
44 KDM6A NM_021140.3(KDM6A): c.250A> G (p.Ile84Val) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 44961308: 44961308
45 KDM6A NM_021140.3(KDM6A): c.2462_2463delCA (p.Ser821Cysfs) deletion Pathogenic GRCh38 Chromosome X, 45070117: 45070118
46 KDM6A NM_021140.3(KDM6A): c.2462_2463delCA (p.Ser821Cysfs) deletion Pathogenic GRCh37 Chromosome X, 44929362: 44929363

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

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