Information on KABUK2

Basic details

Name: Kabuki syndrome 2 | Acronym: KABUK2
Alt. names:

Gene: KDM6A | MOI: X-linked dominant | Mechanism of action:

No. of cases in DB: 0 | First reported in: 2012

Last updated on: 2023-02-28 16:41:18 by

OMIM: 300867

Orphanet: -

MONDO: -

DOID: -

ClinGen:

Description

Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing. Refs. PMIDs: 22197486; 23076834; 24633898

Management

Description of management option has not been reviewed yet.

Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.

0 reported cases added to GenIA

SubjectID Sex Fam.ID AD AFM Validity Country Population Reference & Pub.code

AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).

Summary of clinical findings

[Considering only Definitive and Possible cases]

Rank Clinical term Present Absent Unreported
1 Feeding difficulties in infancyarrow icon 42 (84.0%) 0 (0.0%) 8 (16.0%)
2 Brachydactylyarrow icon 19 (31.7%) 0 (0.0%) 41 (68.3%)
3 Strabismusarrow icon 15 (31.3%) 0 (0.0%) 33 (68.8%)
4 Macrotiaarrow icon 10 (90.9%) 0 (0.0%) 1 (9.1%)
5 Coarctation of aortaarrow icon 8 (13.3%) 0 (0.0%) 52 (86.7%)
6 Dental malocclusionarrow icon 7 (15.6%) 0 (0.0%) 38 (84.4%)
7 Natal tootharrow icon 7 (15.6%) 0 (0.0%) 38 (84.4%)
8 Blue scleraearrow icon 6 (54.6%) 0 (0.0%) 5 (45.5%)
9 Intellectual disabilityarrow icon 5 (99.9%) 0 (0.0%) 0 (0.0%)
10 Long palpebral fissurearrow icon 5 (99.9%) 0 (0.0%) 0 (0.0%)
11 Neonatal hypoglycemiaarrow icon 5 (50.0%) 0 (0.0%) 5 (50.0%)
12 Nystagmusarrow icon 5 (10.4%) 0 (0.0%) 43 (89.6%)
13 short staturearrow icon 5 (99.9%) 0 (0.0%) 0 (0.0%)
14 Eversion of lateral third of lower eyelidsarrow icon 4 (80.0%) 0 (0.0%) 1 (20.0%)
15 Global developmental delayarrow icon 4 (99.9%) 0 (0.0%) 0 (0.0%)
16 Horseshoe kidneyarrow icon 4 (7.6%) 0 (0.0%) 49 (92.5%)
17 Postnatal growth retardationarrow icon 4 (99.9%) 0 (0.0%) 0 (0.0%)
18 Areolar fullnessarrow icon 3 (99.9%) 0 (0.0%) 0 (0.0%)
19 Depressed nasal tiparrow icon 3 (75.0%) 0 (0.0%) 1 (25.0%)
20 High palatearrow icon 3 (75.0%) 0 (0.0%) 1 (25.0%)
21 Epicanthusarrow icon 2 (40.0%) 0 (0.0%) 3 (60.0%)
22 Hip dislocationarrow icon 2 (66.7%) 0 (0.0%) 1 (33.3%)
23 Hypodontiaarrow icon 2 (50.0%) 0 (0.0%) 2 (50.0%)
24 Intrauterine growth retardationarrow icon 2 (50.0%) 0 (0.0%) 2 (50.0%)
25 Joint hypermobilityarrow icon 2 (50.0%) 0 (0.0%) 2 (50.0%)
26 Microcephalyarrow icon 2 (50.0%) 0 (0.0%) 2 (50.0%)
27 Prominent fingertip padsarrow icon 2 (99.9%) 0 (0.0%) 0 (0.0%)
28 Protruding eararrow icon 2 (50.0%) 0 (0.0%) 2 (50.0%)
29 Recurrent otitis mediaarrow icon 2 (40.0%) 0 (0.0%) 3 (60.0%)
30 Short columellaarrow icon 2 (66.7%) 0 (0.0%) 1 (33.3%)
31 Cleft palatearrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
32 Generalized hypotoniaarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
33 Hearing impairmentarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
34 Highly arched eyebrowarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
35 Hirsutismarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
36 Low-set earsarrow icon 1 (25.0%) 0 (0.0%) 3 (75.0%)
37 Lower lip pitarrow icon 1 (25.0%) 0 (0.0%) 3 (75.0%)
38 Micrognathiaarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
39 Seizuresarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
40 Short 5th fingerarrow icon 1 (25.0%) 0 (0.0%) 3 (75.0%)

Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.

Summary of treatment outcomes

[Considering only Definitive and Possible cases]

Treatment ⓘ Responses & clinical indications

Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.