Kabuki Syndrome 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

KABUK2 MCID: KBK003 MIFTS: 32	Kabuki Syndrome 2 (KABUK2) Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Kabuki Syndrome 2

MalaCards integrated aliases for Kabuki Syndrome 2:

Name: Kabuki Syndrome 2 ⁵⁷ ⁷² ²⁹ ¹³ ⁶ ⁷⁰

Kabuk2 ⁵⁷ ⁷²

Syndrome, Kabuki, Type 2 ³⁹

Characteristics:

OMIM®:

⁵⁷ (Updated 20-May-2021)

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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Eye diseases Mental diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 300867

OMIM Phenotypic Series ⁵⁷ PS147920

MeSH ⁴⁴ D000015

MedGen ⁴¹ C3275495

UMLS ⁷⁰ C3275495

Sources

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) (Updated 20-May-2021)

MalaCards based summary : Kabuki Syndrome 2, also known as kabuk2, is related to kabuki syndrome 1 and alacrima, achalasia, and mental retardation syndrome, and has symptoms including seizures An important gene associated with Kabuki Syndrome 2 is KDM6A (Lysine Demethylase 6A). Affiliated tissues include eye and heart, and related phenotypes are atrial septal defect and coarctation of aorta

UniProtKB/Swiss-Prot : ⁷² 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.

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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
1	kabuki syndrome 1	10.1
2	alacrima, achalasia, and mental retardation syndrome	9.9
3	hyperinsulinism	9.9
4	hypoglycemia	9.9

Sources

Symptoms & Phenotypes for Kabuki Syndrome 2

Human phenotypes related to Kabuki Syndrome 2:

³¹ (show all 48)

#	Description	HPO Frequency	HPO Source Accession
1	atrial septal defect ³¹	occasional (7.5%)	HP:0001631
2	coarctation of aorta ³¹	occasional (7.5%)	HP:0001680
3	brachydactyly ³¹	occasional (7.5%)	HP:0001156
4	pulmonic stenosis ³¹	occasional (7.5%)	HP:0001642
5	atrioventricular canal defect ³¹	occasional (7.5%)	HP:0006695
6	cupped ear ³¹	occasional (7.5%)	HP:0000378
7	natal tooth ³¹	occasional (7.5%)	HP:0000695
8	intellectual disability ³¹	very rare (1%)	HP:0001249
9	high palate ³¹	very rare (1%)	HP:0000218
10	hearing impairment ³¹	very rare (1%)	HP:0000365
11	global developmental delay ³¹	very rare (1%)	HP:0001263
12	macrotia ³¹	very rare (1%)	HP:0000400
13	microcephaly ³¹	very rare (1%)	HP:0000252
14	short stature ³¹	very rare (1%)	HP:0004322
15	cleft palate ³¹	very rare (1%)	HP:0000175
16	intrauterine growth retardation ³¹	very rare (1%)	HP:0001511
17	postnatal growth retardation ³¹	very rare (1%)	HP:0008897
18	micrognathia ³¹	very rare (1%)	HP:0000347
19	low-set ears ³¹	very rare (1%)	HP:0000369
20	recurrent otitis media ³¹	very rare (1%)	HP:0000403
21	epicanthus ³¹	very rare (1%)	HP:0000286
22	joint laxity ³¹	very rare (1%)	HP:0001388
23	highly arched eyebrow ³¹	very rare (1%)	HP:0002553
24	protruding ear ³¹	very rare (1%)	HP:0000411
25	hip dislocation ³¹	very rare (1%)	HP:0002827
26	hypodontia ³¹	very rare (1%)	HP:0000668
27	blue sclerae ³¹	very rare (1%)	HP:0000592
28	neonatal hypoglycemia ³¹	very rare (1%)	HP:0001998
29	depressed nasal tip ³¹	very rare (1%)	HP:0000437
30	short columella ³¹	very rare (1%)	HP:0002000
31	hirsutism ³¹	very rare (1%)	HP:0001007
32	generalized hypotonia ³¹	very rare (1%)	HP:0001290
33	lower lip pit ³¹	very rare (1%)	HP:0000196
34	short 5th finger ³¹	very rare (1%)	HP:0009237
35	long palpebral fissure ³¹	very rare (1%)	HP:0000637
36	eversion of lateral third of lower eyelids ³¹	very rare (1%)	HP:0007655
37	prominent fingertip pads ³¹	very rare (1%)	HP:0001212
38	seizure ³¹	very rare (1%)	HP:0001250
39	areolar fullness ³¹	very rare (1%)	HP:0032315
40	behavioral abnormality ³¹		HP:0000708
41	dental malocclusion ³¹		HP:0000689
42	feeding difficulties in infancy ³¹		HP:0008872
43	strabismus ³¹		HP:0000486
44	decreased body weight ³¹		HP:0004325
45	sparse lateral eyebrow ³¹		HP:0005338
46	long eyelashes ³¹		HP:0000527
47	broad nasal tip ³¹		HP:0000455
48	hypotonia ³¹		HP:0001252

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 20-May-2021)

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 eyelashes
long palpebral fissure
arched eyebrows
sparse lateral 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 (Updated 20-May-2021)

UMLS symptoms related to Kabuki Syndrome 2:

seizures

Sources

Drugs & Therapeutics for Kabuki Syndrome 2

Search Clinical Trials , NIH Clinical Center for Kabuki Syndrome 2

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Genetic Tests for Kabuki Syndrome 2

Genetic tests related to Kabuki Syndrome 2:

#	Genetic test	Affiliating Genes
1	Kabuki Syndrome 2 ²⁹	KDM6A

Sources

Anatomical Context for Kabuki Syndrome 2

MalaCards organs/tissues related to Kabuki Syndrome 2:

⁴⁰

Eye, Heart

Sources

Publications for Kabuki Syndrome 2

Articles related to Kabuki Syndrome 2:

(show all 13)

#	Title	Authors	PMID	Year
1	Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development. ⁶ ⁵⁷	Van Laarhoven PM...Shaikh TH	25972376	2015
2	A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A. ⁶ ⁵⁷	Lederer D...Maystadt I	24664873	2014
3	MLL2 and KDM6A mutations in patients with Kabuki syndrome. ⁵⁷ ⁶	Miyake N...Niikawa N	23913813	2013
4	KDM6A point mutations cause Kabuki syndrome. ⁵⁷ ⁶	Miyake N...Matsumoto N	23076834	2013
5	Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome. ⁵⁷ ⁶	Lederer D...Verellen-Dumoulin C	22197486	2012
6	Persistent Hyperinsulinism in Kabuki Syndrome 2: Case Report and Literature Review. ⁶ ⁶¹	Gole H...Coman D	27777708	2016
7	Kabuki syndrome: international consensus diagnostic criteria. ⁵⁷	Adam MP...Kabuki Syndrome Medical Advisory Board	30514738	2019
8	Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2. ⁶	Bogershausen N...Wollnik B	27302555	2016
9	Clinical application of whole-exome sequencing across clinical indications. ⁶	Retterer K...Bale S	26633542	2016
10	Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. ⁶	Richards S...ACMG Laboratory Quality Assurance Committee	25741868	2015
11	Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients. ⁵⁷	Micale L...Merla G	24633898	2014
12	Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency. ⁵⁷	Niikawa N...Kajii T	7277096	1981
13	A fetus with Kabuki syndrome 2 detected by chromosomal microarray analysis. ⁶¹	Lin CZ...Huang XQ	32211113	2020

Sources

Genes for Kabuki Syndrome 2

Genes related to Kabuki Syndrome 2 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	KDM6A	Lysine Demethylase 6A	Protein Coding	1043.7	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	22197486 25972376

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Variations for Kabuki Syndrome 2

ClinVar genetic disease variations for Kabuki Syndrome 2:

⁶ (show top 50) (show all 93)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	KDM6A	nsv1067838	Deletion	Pathogenic	29935		GRCh37: X:44866302-44912718 GRCh38: X:45007057-45053473
2	KDM6A	NM_021140.3(KDM6A):c.3717G>A (p.Trp1239Ter)	SNV	Pathogenic	39992	rs398122929	GRCh37: X:44949156-44949156 GRCh38: X:45089911-45089911
3	KDM6A	NM_021140.3(KDM6A):c.1555C>T (p.Arg519Ter)	SNV	Pathogenic	39993	rs397514628	GRCh37: X:44922694-44922694 GRCh38: X:45063449-45063449
4	KDM6A	NM_021140.3(KDM6A):c.3351_3353TCT[1] (p.Leu1119del)	Microsatellite	Pathogenic	39994	rs398122829	GRCh37: X:44942771-44942773 GRCh38: X:45083526-45083528
5	KDM6A	NM_021140.3(KDM6A):c.1909_1912del (p.Ser637fs)	Deletion	Pathogenic	91403	rs398122969	GRCh37: X:44923045-44923048 GRCh38: X:45063800-45063803
6	KDM6A	NM_021140.3(KDM6A):c.2515_2518del (p.Asn839fs)	Deletion	Pathogenic	190247	rs786205676	GRCh37: X:44929412-44929415 GRCh38: X:45070167-45070170
7	KDM6A	NM_021140.3(KDM6A):c.1543del (p.Val515fs)	Deletion	Pathogenic	211254	rs797045642	GRCh37: X:44922682-44922682 GRCh38: X:45063437-45063437
8	KDM6A	NM_001291415.1(KDM6A):c.2988+1G>C	SNV	Pathogenic	431139	rs1135401809	GRCh37: X:44936072-44936072 GRCh38: X:45076827-45076827
9	KDM6A	NM_021140.3(KDM6A):c.3016C>T (p.Gln1006Ter)	SNV	Pathogenic	471948	rs1556341546	GRCh37: X:44938468-44938468 GRCh38: X:45079223-45079223
10	KDM6A	NM_021140.3(KDM6A):c.2462_2463del (p.Ser821fs)	Deletion	Pathogenic	539319	rs1556330304	GRCh37: X:44929362-44929363 GRCh38: X:45070117-45070118
11	KDM6A	NM_021140.3(KDM6A):c.1392_1395TCAT[3] (p.Trp467fs)	Microsatellite	Pathogenic	559639	rs1556311265	GRCh37: X:44920630-44920631 GRCh38: X:45061385-45061386
12	KDM6A	NM_021140.3(KDM6A):c.3763C>T (p.Arg1255Trp)	SNV	Pathogenic	565844	rs1450363794	GRCh37: X:44949994-44949994 GRCh38: X:45090749-45090749
13	KDM6A	NM_021140.3(KDM6A):c.2832+1G>A	SNV	Pathogenic	545065	rs1135401809	GRCh37: X:44936072-44936072 GRCh38: X:45076827-45076827
14	KDM6A	NM_021140.3(KDM6A):c.4051C>T (p.Arg1351Ter)	SNV	Pathogenic	644617	rs1318649487	GRCh37: X:44969369-44969369 GRCh38: X:45110124-45110124
15	KDM6A	NM_001291415.2(KDM6A):c.493C>T (p.Arg165Ter)	SNV	Pathogenic	692010	rs912069418	GRCh37: X:44879904-44879904 GRCh38: X:45020659-45020659
16	KDM6A	NM_001291415.2(KDM6A):c.3198del (p.Thr1067fs)	Deletion	Pathogenic	692059	rs1602928108	GRCh37: X:44938492-44938492 GRCh38: X:45079247-45079247
17	KDM6A	NM_021140.3(KDM6A):c.2646_2647dup (p.Pro883fs)	Duplication	Pathogenic	637050	rs1602868720	GRCh37: X:44929545-44929546 GRCh38: X:45070300-45070301
18	KDM6A	NM_021140.3(KDM6A):c.2101_2102TC[4] (p.His702fs)	Microsatellite	Pathogenic	471947	rs1556328781	GRCh37: X:44928999-44929000 GRCh38: X:45069754-45069755
19	KDM6A	NM_001291415.2(KDM6A):c.2608del (p.Ser870fs)	Deletion	Pathogenic	861724		GRCh37: X:44929351-44929351 GRCh38: X:45070106-45070106
20	KDM6A	NM_021140.3(KDM6A):c.2326_2329del (p.Asp776fs)	Deletion	Pathogenic	265212	rs886039398	GRCh37: X:44929224-44929227 GRCh38: X:45069979-45069982
21	KDM6A	NM_001291415.2(KDM6A):c.140A>G (p.Glu47Gly)	SNV	Pathogenic	976704		GRCh37: X:44732937-44732937 GRCh38: X:44873691-44873691
22	KDM6A	NM_001291415.2(KDM6A):c.875+1G>A	SNV	Pathogenic	981690		GRCh37: X:44913201-44913201 GRCh38: X:45053956-45053956
23	KDM6A	NM_001291415.2(KDM6A):c.2002_2005del (p.Thr668fs)	Microsatellite	Pathogenic	981691		GRCh37: X:44922980-44922983 GRCh38: X:45063735-45063738
24	KDM6A	NM_001291415.2(KDM6A):c.2230C>T (p.Gln744Ter)	SNV	Pathogenic	981692		GRCh37: X:44928974-44928974 GRCh38: X:45069729-45069729
25	KDM6A	NM_001291415.2(KDM6A):c.3426_3429del (p.Ser1143fs)	Deletion	Pathogenic	981695		GRCh37: X:44942018-44942021 GRCh38: X:45082773-45082776
26	KDM6A	NM_001291415.2(KDM6A):c.443+5G>C	SNV	Pathogenic	981696		GRCh37: X:44870269-44870269 GRCh38: X:45011024-45011024
27	KDM6A	NM_001291415.2(KDM6A):c.514C>T (p.Arg172Ter)	SNV	Pathogenic	981697		GRCh37: X:44879925-44879925 GRCh38: X:45020680-45020680
28	KDM6A	NM_001291415.2(KDM6A):c.564+1G>T	SNV	Pathogenic	981698		GRCh37: X:44879976-44879976 GRCh38: X:45020731-45020731
29	KDM6A	NM_001291415.2(KDM6A):c.619+6T>C	SNV	Pathogenic	981699		GRCh37: X:44894236-44894236 GRCh38: X:45034991-45034991
30	KDM6A	NM_001291415.2(KDM6A):c.620-2A>G	SNV	Pathogenic	981732		GRCh37: X:44896898-44896898 GRCh38: X:45037653-45037653
31	KDM6A	NM_001291415.2(KDM6A):c.749-2A>G	SNV	Pathogenic	988776		GRCh37: X:44913072-44913072 GRCh38: X:45053827-45053827
32	KDM6A	NM_001291415.2(KDM6A):c.1192C>T (p.Gln398Ter)	SNV	Pathogenic	984975		GRCh37: X:44918709-44918709 GRCh38: X:45059464-45059464
33	KDM6A	NM_001291415.2(KDM6A):c.3058dup (p.Thr1020fs)	Duplication	Likely pathogenic	988751		GRCh37: X:44937713-44937714 GRCh38: X:45078468-45078469
34	KDM6A	NM_021140.3(KDM6A):c.3835C>T (p.Arg1279Ter)	SNV	Likely pathogenic	216950	rs863224886	GRCh37: X:44950066-44950066 GRCh38: X:45090821-45090821
35	KDM6A	NM_001291415.2(KDM6A):c.3590-2A>G	SNV	Likely pathogenic	981733		GRCh37: X:44945108-44945108 GRCh38: X:45085863-45085863
36	KDM6A	NM_001291415.2(KDM6A):c.3095-1G>T	SNV	Likely pathogenic	981693		GRCh37: X:44938390-44938390 GRCh38: X:45079145-45079145
37	KDM6A	NM_001291415.2(KDM6A):c.3229A>G (p.Ser1077Gly)	SNV	Likely pathogenic	981694		GRCh37: X:44938525-44938525 GRCh38: X:45079280-45079280
38	KDM6A	NM_001291415.2(KDM6A):c.908C>A (p.Ala303Asp)	SNV	Likely pathogenic	976705		GRCh37: X:44918283-44918283 GRCh38: X:45059038-45059038
39	KDM6A	NM_001291415.2(KDM6A):c.3409G>A (p.Gly1137Arg)	SNV	Likely pathogenic	979183		GRCh37: X:44942003-44942003 GRCh38: X:45082758-45082758
40	KDM6A	NM_001291415.2(KDM6A):c.3301-2A>G	SNV	Likely pathogenic	964077		GRCh37: X:44941819-44941819 GRCh38: X:45082574-45082574
41	KDM6A	NM_001291415.2(KDM6A):c.2519C>G (p.Ala840Gly)	SNV	Likely pathogenic	975571		GRCh37: X:44929263-44929263 GRCh38: X:45070018-45070018
42	KDM6A	NM_021140.3(KDM6A):c.3736+2T>C	SNV	Likely pathogenic	183369	rs793888510	GRCh37: X:44949177-44949177 GRCh38: X:45089932-45089932
43	KDM6A	NM_021140.3(KDM6A):c.752G>A (p.Trp251Ter)	SNV	Likely pathogenic	183368	rs793888509	GRCh37: X:44913077-44913077 GRCh38: X:45053832-45053832
44	overlap with 8 genes	NC_000023.10:g.(?_43479884)_(45501849_?)del	Deletion	Likely pathogenic	183367		GRCh37: X:43479884-45501849 GRCh38:
45	overlap with 15 genes	NC_000023.10:g.(?_43479884)_(46741003_?)del	Deletion	Likely pathogenic	183366		GRCh37: X:43479884-46741003 GRCh38:
46	KDM6A	NM_021140.3(KDM6A):c.3144+1G>A	SNV	Likely pathogenic	663689	rs1602928572	GRCh37: X:44938597-44938597 GRCh38: X:45079352-45079352
47	KDM6A	NM_021140.3(KDM6A):c.4161T>A (p.Tyr1387Ter)	SNV	Likely pathogenic	689653	rs1603068073	GRCh37: X:44969479-44969479 GRCh38: X:45110234-45110234
48	KDM6A	NM_021140.3(KDM6A):c.3584C>T (p.Pro1195Leu)	SNV	Likely pathogenic	648826	rs1602985802	GRCh37: X:44949023-44949023 GRCh38: X:45089778-45089778
49	KDM6A	NM_021140.3(KDM6A):c.1425+1G>T	SNV	Likely pathogenic	654686	rs1602799769	GRCh37: X:44920665-44920665 GRCh38: X:45061420-45061420
50	KDM6A	NM_021140.3(KDM6A):c.3458G>A (p.Cys1153Tyr)	SNV	Likely pathogenic	545087	rs1556350571	GRCh37: X:44945134-44945134 GRCh38: X:45085889-45085889

Sources

Expression for Kabuki Syndrome 2

Search GEO for disease gene expression data for Kabuki Syndrome 2.

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Pathways for Kabuki Syndrome 2

Sources

GO Terms for Kabuki Syndrome 2

Sources

Sources for Kabuki Syndrome 2

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 20-May-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Kabuki Syndrome 2 (KABUK2)

Aliases & Classifications for Kabuki Syndrome 2

MalaCards integrated aliases for Kabuki Syndrome 2:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Kabuki Syndrome 2

Related Diseases for Kabuki Syndrome 2

Diseases in the Kabuki Syndrome 1 family:

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

Symptoms & Phenotypes for Kabuki Syndrome 2

Human phenotypes related to Kabuki Syndrome 2:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

UMLS symptoms related to Kabuki Syndrome 2:

Drugs & Therapeutics for Kabuki Syndrome 2

Genetic Tests for Kabuki Syndrome 2

Genetic tests related to Kabuki Syndrome 2:

Anatomical Context for Kabuki Syndrome 2

MalaCards organs/tissues related to Kabuki Syndrome 2:

Publications for Kabuki Syndrome 2

Articles related to Kabuki Syndrome 2:

Genes for Kabuki Syndrome 2

Genes related to Kabuki Syndrome 2 (1 elite genes):

Variations for Kabuki Syndrome 2

ClinVar genetic disease variations for Kabuki Syndrome 2:

Expression for Kabuki Syndrome 2

Pathways for Kabuki Syndrome 2

GO Terms for Kabuki Syndrome 2

Sources for Kabuki Syndrome 2