Information on KABUK1

Basic details

Name: Kabuki syndrome 1 | Acronym: KABUK1
Alt. names: Kabuki syndrome

Gene: KMT2D | MOI: Autosomal dominant | Mechanism of action:

No. of cases in DB: 0 | First reported in: 2010

Last updated on: 2023-05-17 17:25:50 by

OMIM: 147920

Orphanet: -

MONDO: 0016512

DOID: -

ClinGen:

Description

Congenital heart defects, as well as arrhythmias, are frequent in affected individuals, and surveillance may allow early diagnosis and treatment; Individuals may have renal anomalies and/or vesicoureteral reflux, and screening for renal anomalies (eg, with ultrasound and functional testing) may allow measures to help monitor and preserve renal function. Refs. PMIDs: 3067577; 8048822; 10190924; 11343317; 11665999; 12002156; 15108197; 15887282; 20711175; 21671394; 21607748; 21882399; 22126750; 23535010; 23913813

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 Intellectual disabilityarrow icon 95 (97.9%) 0 (0.0%) 2 (2.1%)
2 Cleft palatearrow icon 40 (58.0%) 0 (0.0%) 29 (42.0%)
3 Global developmental delayarrow icon 40 (95.2%) 0 (0.0%) 2 (4.8%)
4 Recurrent infectionsarrow icon 40 (62.5%) 0 (0.0%) 24 (37.5%)
5 Depressed nasal tiparrow icon 38 (77.6%) 0 (0.0%) 11 (22.5%)
6 Feeding difficulties in infancyarrow icon 32 (88.9%) 0 (0.0%) 4 (11.1%)
7 Prominent fingertip padsarrow icon 31 (79.5%) 0 (0.0%) 8 (20.5%)
8 Long palpebral fissurearrow icon 27 (87.1%) 0 (0.0%) 4 (12.9%)
9 Macrotiaarrow icon 24 (80.0%) 0 (0.0%) 6 (20.0%)
10 Hearing impairmentarrow icon 22 (51.2%) 0 (0.0%) 21 (48.8%)
11 Highly arched eyebrowarrow icon 22 (73.3%) 0 (0.0%) 8 (26.7%)
12 Muscular hypotoniaarrow icon 22 (68.8%) 0 (0.0%) 10 (31.3%)
13 Eversion of lateral third of lower eyelidsarrow icon 19 (86.4%) 0 (0.0%) 3 (13.6%)
14 Short 5th fingerarrow icon 16 (99.9%) 0 (0.0%) 0 (0.0%)
15 High, narrow palatearrow icon 14 (99.9%) 0 (0.0%) 0 (0.0%)
16 Large earlobearrow icon 14 (99.9%) 0 (0.0%) 0 (0.0%)
17 Recurrent otitis mediaarrow icon 14 (66.7%) 0 (0.0%) 7 (33.3%)
18 Wide nasal bridgearrow icon 14 (82.4%) 0 (0.0%) 3 (17.7%)
19 Joint dislocationarrow icon 13 (32.5%) 0 (0.0%) 27 (67.5%)
20 Decreased proportion of memory B cellsarrow icon 11 (84.6%) 0 (0.0%) 2 (15.4%)
21 Dwarfismarrow icon 11 (84.6%) 0 (0.0%) 2 (15.4%)
22 short staturearrow icon 11 (55.0%) 0 (0.0%) 9 (45.0%)
23 Sparse lateral eyebrowarrow icon 11 (99.9%) 0 (0.0%) 0 (0.0%)
24 Delayed speech and language developmentarrow icon 10 (83.3%) 0 (0.0%) 2 (16.7%)
25 Finger clinodactylyarrow icon 10 (99.9%) 0 (0.0%) 0 (0.0%)
26 Postnatal growth retardationarrow icon 10 (71.4%) 0 (0.0%) 4 (28.6%)
27 Congenital onsetarrow icon 9 (90.0%) 0 (0.0%) 1 (10.0%)
28 Scoliosisarrow icon 9 (25.7%) 0 (0.0%) 26 (74.3%)
29 Choanal atresiaarrow icon 8 (99.9%) 0 (0.0%) 0 (0.0%)
30 Decreased proportion of CD4 memory T cellsarrow icon 8 (61.5%) 0 (0.0%) 5 (38.5%)
31 Feeding difficultiesarrow icon 8 (32.0%) 0 (0.0%) 17 (68.0%)
32 Micrognathiaarrow icon 8 (50.0%) 0 (0.0%) 8 (50.0%)
33 Blue scleraearrow icon 7 (41.2%) 0 (0.0%) 10 (58.8%)
34 Microcephalyarrow icon 7 (38.9%) 0 (0.0%) 11 (61.1%)
35 Thin upper lip vermilionarrow icon 7 (70.0%) 0 (0.0%) 3 (30.0%)
36 Atrial septal defectarrow icon 6 (40.0%) 0 (0.0%) 9 (60.0%)
37 Childhood onsetarrow icon 6 (42.9%) 0 (0.0%) 8 (57.1%)
38 Clinodactyly of the 5th fingerarrow icon 6 (30.0%) 0 (0.0%) 14 (70.0%)
39 Congenital hip dislocationarrow icon 6 (26.1%) 0 (0.0%) 17 (73.9%)
40 High foreheadarrow icon 6 (54.6%) 0 (0.0%) 5 (45.5%)
41 High palatearrow icon 6 (85.7%) 0 (0.0%) 1 (14.3%)
42 Neonatal onsetarrow icon 6 (46.2%) 0 (0.0%) 7 (53.9%)
43 Preauricular pitarrow icon 6 (50.0%) 0 (0.0%) 6 (50.0%)
44 Sacral dimplearrow icon 6 (50.0%) 0 (0.0%) 6 (50.0%)
45 Sensorineural hearing impairmentarrow icon 6 (99.9%) 0 (0.0%) 0 (0.0%)
46 Strabismusarrow icon 6 (25.0%) 0 (0.0%) 18 (75.0%)
47 Absent nipplearrow icon 5 (41.7%) 0 (0.0%) 7 (58.3%)
48 Gastroesophageal refluxarrow icon 5 (29.4%) 0 (0.0%) 12 (70.6%)
49 Hypoplastic nipplesarrow icon 5 (41.7%) 0 (0.0%) 7 (58.3%)
50 Infantile onsetarrow icon 5 (29.4%) 0 (0.0%) 12 (70.6%)
51 Intellectual disability, mildarrow icon 5 (38.5%) 0 (0.0%) 8 (61.5%)
52 Joint hypermobilityarrow icon 5 (26.3%) 0 (0.0%) 14 (73.7%)
53 Patent ductus arteriosusarrow icon 5 (11.1%) 0 (0.0%) 40 (88.9%)
54 Patent foramen ovalearrow icon 5 (14.3%) 0 (0.0%) 30 (85.7%)
55 Ventricular septal defectarrow icon 5 (13.9%) 0 (0.0%) 31 (86.1%)
56 Brachydactylyarrow icon 4 (99.9%) 0 (0.0%) 0 (0.0%)
57 Coarctation of aortaarrow icon 4 (11.1%) 0 (0.0%) 32 (88.9%)
58 Decreased IgA levelsarrow icon 4 (30.8%) 0 (0.0%) 9 (69.2%)
59 Downslanted palpebral fissuresarrow icon 4 (99.9%) 0 (0.0%) 0 (0.0%)
60 Hypoparathyroidismarrow icon 4 (99.9%) 0 (0.0%) 0 (0.0%)
61 Hypothyroidismarrow icon 4 (99.9%) 0 (0.0%) 0 (0.0%)
62 Juvenile onsetarrow icon 4 (28.6%) 0 (0.0%) 10 (71.4%)
63 Motor delayarrow icon 4 (40.0%) 0 (0.0%) 6 (60.0%)
64 Seizuresarrow icon 4 (16.0%) 0 (0.0%) 21 (84.0%)
65 Sparse eyebrowarrow icon 4 (50.0%) 0 (0.0%) 4 (50.0%)
66 Thick lower lip vermilionarrow icon 4 (99.9%) 0 (0.0%) 0 (0.0%)
67 Underdeveloped nasal alaearrow icon 4 (66.7%) 0 (0.0%) 2 (33.3%)
68 Anteverted naresarrow icon 3 (99.9%) 0 (0.0%) 0 (0.0%)
69 Aplasia of the semicircular canalarrow icon 3 (75.0%) 0 (0.0%) 1 (25.0%)
70 Congenital hypothyroidismarrow icon 3 (50.0%) 0 (0.0%) 3 (50.0%)
71 Hip dysplasiaarrow icon 3 (99.9%) 0 (0.0%) 0 (0.0%)
72 Hypotelorismarrow icon 3 (99.9%) 0 (0.0%) 0 (0.0%)
73 Long eyelashesarrow icon 3 (42.9%) 0 (0.0%) 4 (57.1%)
74 Low-set earsarrow icon 3 (50.0%) 0 (0.0%) 3 (50.0%)
75 Microdontiaarrow icon 3 (60.0%) 0 (0.0%) 2 (40.0%)
76 Oligodontiaarrow icon 3 (99.9%) 0 (0.0%) 0 (0.0%)
77 Protruding eararrow icon 3 (99.9%) 0 (0.0%) 0 (0.0%)
78 Pulmonary arterial hypertensionarrow icon 3 (30.0%) 0 (0.0%) 7 (70.0%)
79 Smooth philtrumarrow icon 3 (99.9%) 0 (0.0%) 0 (0.0%)
80 Alobar holoprosencephalyarrow icon 2 (66.7%) 0 (0.0%) 1 (33.3%)
81 Bifid uvulaarrow icon 2 (66.7%) 0 (0.0%) 1 (33.3%)
82 Branchial sinusarrow icon 2 (50.0%) 0 (0.0%) 2 (50.0%)
83 Decreased circulating total IgGarrow icon 2 (15.4%) 0 (0.0%) 11 (84.6%)
84 Depressed nasal bridgearrow icon 2 (66.7%) 0 (0.0%) 1 (33.3%)
85 Depressed nasal ridgearrow icon 2 (33.3%) 0 (0.0%) 4 (66.7%)
86 Ectopic kidneyarrow icon 2 (18.2%) 0 (0.0%) 9 (81.8%)
87 Growth delayarrow icon 2 (99.9%) 0 (0.0%) 0 (0.0%)
88 Hypertelorismarrow icon 2 (28.6%) 0 (0.0%) 5 (71.4%)
89 Low posterior hairlinearrow icon 2 (28.6%) 0 (0.0%) 5 (71.4%)
90 Midface retrusionarrow icon 2 (99.9%) 0 (0.0%) 0 (0.0%)
91 Retained primary teetharrow icon 2 (50.0%) 0 (0.0%) 2 (50.0%)
92 Ptosisarrow icon 2 (11.1%) 0 (0.0%) 16 (88.9%)
93 Renal duplicationarrow icon 2 (15.4%) 0 (0.0%) 11 (84.6%)
94 Second trimester onsetarrow icon 2 (99.9%) 0 (0.0%) 0 (0.0%)
95 Short nosearrow icon 2 (99.9%) 0 (0.0%) 0 (0.0%)
96 Single transverse palmar creasearrow icon 2 (66.7%) 0 (0.0%) 1 (33.3%)
97 Thin vermilion borderarrow icon 2 (99.9%) 0 (0.0%) 0 (0.0%)
98 Anal atresiaarrow icon 1 (16.7%) 0 (0.0%) 5 (83.3%)
99 Anteriorly placed anusarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
100 Aortic valve stenosisarrow icon 1 (3.3%) 0 (0.0%) 29 (96.7%)
101 Bicuspid aortic valvearrow icon 1 (5.0%) 0 (0.0%) 19 (95.0%)
102 Bilateral ptosisarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
103 Bilateral renal hypoplasiaarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
104 Bilateral tonic-clonic seizure with focal onsetarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
105 Bronchiolitisarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
106 Butterfly vertebraearrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
107 Cholesteatomaarrow icon 1 (16.7%) 0 (0.0%) 5 (83.3%)
108 Craniosynostosisarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
109 Cryptorchidismarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
110 Cupped eararrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
111 Reduced IgG2 levelsarrow icon 1 (7.7%) 0 (0.0%) 12 (92.3%)
112 Decreased growth hormone levelsarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
113 Dental malocclusionarrow icon 1 (25.0%) 0 (0.0%) 3 (75.0%)
114 Dimple chinarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
115 Dysarthriaarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
116 Epicanthusarrow icon 1 (16.7%) 0 (0.0%) 5 (83.3%)
117 Fetal onsetarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
118 Focal impaired awareness seizurearrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
119 Hydrocephalusarrow icon 1 (14.3%) 0 (0.0%) 6 (85.7%)
120 Hydronephrosisarrow icon 1 (20.0%) 0 (0.0%) 4 (80.0%)
121 Hypoglycemiaarrow icon 1 (16.7%) 0 (0.0%) 5 (83.3%)
122 Hypoplastic left heartarrow icon 1 (3.3%) 0 (0.0%) 29 (96.7%)
123 Interrupted aortic archarrow icon 1 (3.3%) 0 (0.0%) 29 (96.7%)
124 Intrauterine growth retardationarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
125 Dilation of lateral ventriclesarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
126 Lobar holoprosencephalyarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
127 Median cleft liparrow icon 1 (50.0%) 0 (0.0%) 1 (50.0%)
128 Microtiaarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
129 Multicystic kidney dysplasiaarrow icon 1 (7.1%) 0 (0.0%) 13 (92.9%)
130 Nasolacrimal duct obstructionarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
131 Obesityarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
132 Polyhydramniosarrow icon 1 (50.0%) 0 (0.0%) 1 (50.0%)
133 Posteriorly rotated earsarrow icon 1 (16.7%) 0 (0.0%) 5 (83.3%)
134 Proboscisarrow icon 1 (50.0%) 0 (0.0%) 1 (50.0%)
135 Renal insufficiencyarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
136 Retrognathiaarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
137 Right ventricular hypertrophyarrow icon 1 (3.5%) 0 (0.0%) 28 (96.6%)
138 Scimitar anomalyarrow icon 1 (3.3%) 0 (0.0%) 29 (96.7%)
139 Splenomegalyarrow icon 1 (12.5%) 0 (0.0%) 7 (87.5%)
140 Subpleural honeycombingarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
141 Telecanthusarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
142 Tented upper lip vermilionarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
143 Thoracic scoliosisarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
144 Type II pneumocyte hyperplasiaarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
145 Ureteral duplicationarrow icon 1 (7.7%) 0 (0.0%) 12 (92.3%)
146 Ureteropelvic junction obstructionarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
147 Weak cryarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
148 Wide nosearrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
149 Widely spaced teetharrow icon 1 (25.0%) 0 (0.0%) 3 (75.0%)
150 Abnormal mitral valve morphologyarrow icon 0 (0.0%) 0 (0.0%) 20 (99.9%)
151 Arnold-Chiari type I malformationarrow icon 0 (0.0%) 0 (0.0%) 10 (99.9%)
152 Duplicated collecting systemarrow icon 0 (0.0%) 0 (0.0%) 3 (99.9%)
153 Horseshoe kidneyarrow icon 0 (0.0%) 0 (0.0%) 4 (99.9%)
154 Hypoplasia of the corpus callosumarrow icon 0 (0.0%) 0 (0.0%) 6 (99.9%)
155 Inguinal herniaarrow icon 0 (0.0%) 0 (0.0%) 6 (99.9%)
156 Mitral stenosisarrow icon 0 (0.0%) 0 (0.0%) 6 (99.9%)
157 Overfolded helixarrow icon 0 (0.0%) 0 (0.0%) 1 (99.9%)
158 Pelvic kidneyarrow icon 0 (0.0%) 0 (0.0%) 4 (99.9%)
159 Phimosisarrow icon 0 (0.0%) 0 (0.0%) 1 (99.9%)
160 Renal dysplasiaarrow icon 0 (0.0%) 0 (0.0%) 4 (99.9%)
161 Renal hypoplasiaarrow icon 0 (0.0%) 0 (0.0%) 4 (99.9%)
162 Retinal colobomaarrow icon 0 (0.0%) 0 (0.0%) 1 (99.9%)
163 Secundum atrial septal defectarrow icon 0 (0.0%) 0 (0.0%) 6 (99.9%)
164 Single ventriclearrow icon 0 (0.0%) 0 (0.0%) 2 (99.9%)
165 Tetralogy of Fallotarrow icon 0 (0.0%) 0 (0.0%) 20 (99.9%)
166 Thick upper lip vermilionarrow icon 0 (0.0%) 0 (0.0%) 3 (99.9%)
167 Unilateral renal agenesisarrow icon 0 (0.0%) 0 (0.0%) 4 (99.9%)
168 Vesicoureteral refluxarrow icon 0 (0.0%) 0 (0.0%) 3 (99.9%)

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.