KABUK2
MCID: KBK003
MIFTS: 27

Kabuki Syndrome 2 (KABUK2) malady

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

Aliases & Classifications for Kabuki Syndrome 2

Aliases & Descriptions for Kabuki Syndrome 2:

Name: Kabuki Syndrome 2 54 66 29 13 69
Kabuk2 66

Characteristics:

HPO:

32
kabuki syndrome 2:
Inheritance x-linked dominant inheritance


Classifications:



External Ids:

OMIM 54 300867
MedGen 40 C3275495
MeSH 42 D000015

Summaries for Kabuki Syndrome 2

OMIM : 54 Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a... (300867) more...

MalaCards based summary : Kabuki Syndrome 2, also known as kabuk2, is related to kdm6a-related kabuki syndrome and hyperinsulinism, and has symptoms including seizures, high palate and muscular hypotonia. An important gene associated with Kabuki Syndrome 2 is KDM6A (Lysine Demethylase 6A). The drugs Dopamine and Risperidone have been mentioned in the context of this disorder. Affiliated tissues include breast.

UniProtKB/Swiss-Prot : 66 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 Kdm6a-Related Kabuki Syndrome
Kmt2d-Related Kabuki Syndrome

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

id Related Disease Score Top Affiliating Genes
1 kdm6a-related kabuki syndrome 11.0
2 hyperinsulinism 9.7

Symptoms & Phenotypes for Kabuki Syndrome 2

Symptoms by clinical synopsis from OMIM:

300867

Clinical features from OMIM:

300867

Human phenotypes related to Kabuki Syndrome 2:

32 (show all 35)
id Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 high palate 32 HP:0000218
3 muscular hypotonia 32 HP:0001252
4 dental malocclusion 32 HP:0000689
5 behavioral abnormality 32 HP:0000708
6 global developmental delay 32 HP:0001263
7 microcephaly 32 HP:0000252
8 short stature 32 HP:0004322
9 feeding difficulties in infancy 32 HP:0008872
10 cleft palate 32 HP:0000175
11 strabismus 32 HP:0000486
12 coarctation of aorta 32 HP:0001680
13 protruding ear 32 HP:0000411
14 brachydactyly syndrome 32 HP:0001156
15 broad nasal tip 32 HP:0000455
16 hypodontia 32 HP:0000668
17 pulmonic stenosis 32 HP:0001642
18 highly arched eyebrow 32 HP:0002553
19 long eyelashes 32 HP:0000527
20 decreased body weight 32 HP:0004325
21 sparse lateral eyebrow 32 HP:0005338
22 atrioventricular canal defect 32 HP:0006695
23 depressed nasal tip 32 HP:0000437
24 neonatal hypoglycemia 32 HP:0001998
25 cupped ear 32 HP:0000378
26 short columella 32 HP:0002000
27 hirsutism 32 HP:0001007
28 long palpebral fissure 32 HP:0000637
29 natal tooth 32 HP:0000695
30 eversion of lateral third of lower eyelids 32 HP:0007655
31 abnormality of the breast 32 HP:0000769
32 prominent fingertip pads 32 HP:0001212
33 central hypotonia 32 HP:0011398
34 generalized joint laxity 32 HP:0002761
35 atrial septal defect 32 HP:0001631

UMLS symptoms related to Kabuki Syndrome 2:


seizures

Drugs & Therapeutics for Kabuki Syndrome 2

Drugs for Kabuki Syndrome 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved 51-61-6, 62-31-7 681
2
Risperidone Approved, Investigational 106266-06-2 5073
3 Antipsychotic Agents
4 Central Nervous System Depressants
5 Dopamine Agents
6 Dopamine Antagonists
7 Neurotransmitter Agents
8 Psychotropic Drugs
9
Serotonin 50-67-9 5202
10 Serotonin Agents
11 Serotonin Antagonists
12 Tranquilizing Agents

Interventional clinical trials:


id Name Status NCT ID Phase
1 Actigraphic Analysis of Treatment Response Completed NCT00723580
2 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Kabuki Syndrome 2

Genetic Tests for Kabuki Syndrome 2

Genetic tests related to Kabuki Syndrome 2:

id Genetic test Affiliating Genes
1 Kabuki Syndrome 2 29

Anatomical Context for Kabuki Syndrome 2

MalaCards organs/tissues related to Kabuki Syndrome 2:

39
Breast

Publications for Kabuki Syndrome 2

Articles related to Kabuki Syndrome 2:

id 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 16)
id 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 subset of 15 genes:KDM6A; MAOA; NDP; RP2; ZNF674 NC_000023.10: g.(?_43479884)_(46741003_?)del deletion Likely pathogenic GRCh37 Chromosome X, 43479884: 46741003
7 CXorf36; DUSP21; EFHC2; FUNDC1; KDM6A; MAOA; MAOB; NDP NC_000023.10: g.(?_43479884)_(45501849_?)del deletion Likely pathogenic GRCh37 Chromosome X, 43479884: 45501849
8 KDM6A NM_021140.3(KDM6A): c.752G> A (p.Trp251Ter) single nucleotide variant Likely pathogenic rs793888509 GRCh38 Chromosome X, 45053832: 45053832
9 KDM6A NM_021140.3(KDM6A): c.3736+2T> C single nucleotide variant Likely pathogenic rs793888510 GRCh37 Chromosome X, 44949177: 44949177
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.1543delG (p.Val515Leufs) deletion Pathogenic rs797045642 GRCh37 Chromosome X, 44922682: 44922682
12 KDM6A NM_021140.3(KDM6A): c.2832+2dup duplication Likely pathogenic rs797045643 GRCh38 Chromosome X, 45076828: 45076828
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

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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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