Details of Disease | DrugMAP

General Information of Disease (ID: DISZN97H)

Disease Name	Kabuki syndrome
Synonyms	NKS; Kabuki make-up syndrome; KMS; Kabuki make up syndrome; Niikawa-Kuroki syndrome
Definition	Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency.
Disease Hierarchy	DIS6SVEE: Syndromic disease DISYKSRF: Genetic disease DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DISZN97H: Kabuki syndrome
Disease Identifiers	MONDO ID MONDO_0016512 MESH ID C537705 UMLS CUI C0796004 OMIM ID 147920 MedGen ID 162897 Orphanet ID 2322 SNOMED CT ID 313426007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
KMT2A	TT1GNDM	Strong	CausalMutation	[1]
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This Disease Is Related to 12 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ANOS1	OTZJT4KN	Limited	Genetic Variation	[2]
KMT2B	OTMMAZQX	Limited	Genetic Variation	[3]
MACROD2	OTNQCHC6	Limited	Biomarker	[4]
MKKS	OTLF5T11	Limited	Genetic Variation	[2]
KDM6A	OTZM3MJJ	Supportive	Autosomal dominant	[5]
KMT2D	OTTVHCLY	Supportive	Autosomal dominant	[5]
ANKRD11	OTV0V70M	Strong	Genetic Variation	[6]
FZR1	OT0WGWZS	Strong	Genetic Variation	[7]
HNRNPK	OTNPRM8U	Strong	Genetic Variation	[8]
POGZ	OT4CYWC1	Strong	Altered Expression	[9]
RAP1A	OT5RH6TI	Strong	GermlineCausalMutation	[10]
RAP1B	OTHEIIMM	Strong	Genetic Variation	[10]
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⏷ Show the Full List of 12 DOT(s)

References

1	Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities.Eur J Hum Genet. 2017 Dec;25(12):1335-1344. doi: 10.1038/s41431-017-0023-0. Epub 2017 Nov 7.
2	Cutis laxa in Kabuki make-up syndrome.J Am Acad Dermatol. 2005 Nov;53(5 Suppl 1):S247-51. doi: 10.1016/j.jaad.2005.02.007.
3	Congenital Refractory Glaucoma: A New Ophthalmic Association of Kabuki Syndrome and its Management With Glaucoma Drainage Devices.J Glaucoma. 2019 Jun;28(6):e96-e98. doi: 10.1097/IJG.0000000000001201.
4	Mono-ADP-Ribosylhydrolase MACROD2 Is Dispensable for Murine Responses to Metabolic and Genotoxic Insults.Front Genet. 2018 Dec 12;9:654. doi: 10.3389/fgene.2018.00654. eCollection 2018.
5	Kabuki Syndrome. 2011 Sep 1 [updated 2024 Apr 25]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
6	De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome. Am J Med Genet A. 2014 Jul;164A(7):1744-9. doi: 10.1002/ajmg.a.36450. Epub 2014 May 16.
7	A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general population.J Hum Genet. 2019 Feb;64(2):161-170. doi: 10.1038/s10038-018-0536-6. Epub 2018 Nov 20.
8	Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency.Clin Genet. 2018 Feb;93(2):401-407. doi: 10.1111/cge.13029. Epub 2017 Apr 25.
9	Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics.Genome Med. 2016 Nov 1;8(1):105. doi: 10.1186/s13073-016-0359-z.
10	RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome.J Clin Invest. 2015 Sep;125(9):3585-99. doi: 10.1172/JCI80102. Epub 2015 Aug 17.