Details of Disease

General Information of Disease (ID: DISO62CA)

• Disease Name: Moyamoya disease
• Synonyms: Moyamoya disease, secondary; Moyamoya disease, primary; MYMY; progressive intracranial arterial occlusion; idiopathic Moyamoya disease
• Definition: Moyamoya disease (MMD) is a rare intracranial arteriopathy involving progressive stenosis of the cerebral vasculature located at the base of the brain causing transient ischemic attacks or strokes.
• Disease Hierarchy:
  DIS8MHRT: Cerebral arterial disease
  DISD715V: Hereditary neurological disease
  DISO62CA: Moyamoya disease
• Disease Identifiers:
  MONDO ID: MONDO_0016820
  MESH ID: D009072
  UMLS CUI: C0026654
  MedGen ID: 7726
  Orphanet ID: 2573
  SNOMED CT ID: 69116000

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 10 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
HLA-B	TTGS10J	Limited	Biomarker	[1]
HLA-DRB1	TTUXSTW	Limited	Genetic Variation	[2]
LRP1	TTF2V7I	moderate	Genetic Variation	[3]
PLOD1	TTEKJP3	moderate	Genetic Variation	[3]
RAPGEF4	TTOS63B	moderate	Genetic Variation	[3]
CBL	TT7QT13	Strong	Genetic Variation	[4]
CRLF1	TT6YF5K	Strong	Biomarker	[5]
DFFA	TTYVQ9C	Strong	Genetic Variation	[6]
OGFR	TT6IEYX	Strong	Biomarker	[7]
SLC25A1	TTTD730	Strong	Biomarker	[8]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC2A10	DT3BI6S	Strong	Biomarker	[9]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
ALDH1A2	DEKN1H4	Strong	Altered Expression	[10]

This Disease Is Related to 43 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
BRCC3	OTK0ZN7Y	Limited	Autosomal dominant	[11]
ELN	OTFSO7PG	Limited	Genetic Variation	[12]
HLA-DQB1	OTVVI3UI	Limited	Genetic Variation	[2]
JAG1	OT3LGT6K	Limited	Biomarker	[13]
CARD14	OTADQHOV	moderate	Genetic Variation	[3]
CFDP1	OTXY7J96	moderate	Genetic Variation	[3]
DOCK9	OT84H8AD	moderate	Genetic Variation	[3]
FBXO25	OTDFA7F4	moderate	Genetic Variation	[3]
GUCY1A1	OTPTCBUN	moderate	Genetic Variation	[14]
JAZF1	OTXTYSYD	moderate	Genetic Variation	[3]
MAGI2	OTXDDKZS	moderate	Genetic Variation	[3]
MTFMT	OT1OIVJL	moderate	Genetic Variation	[15]
MYRF	OTKF6AEB	moderate	Genetic Variation	[3]
NF1	OTC29NHH	Moderate	Autosomal dominant	[16]
NLN	OTFRITPU	moderate	Genetic Variation	[3]
PCNT	OTW4Z65J	Moderate	Autosomal recessive	[16]
RPTOR	OT4TQZ9F	moderate	Genetic Variation	[3]
SBF2	OTBB8NO8	moderate	Genetic Variation	[3]
SMPDL3B	OTZ3KNFJ	moderate	Genetic Variation	[3]
TCN2	OT41D0L3	moderate	Genetic Variation	[3]
TSC22D2	OTFXF349	moderate	Genetic Variation	[3]
ACTA2	OTEDLG8E	Strong	Genetic Variation	[17]
ASL	OTI2NGQR	Strong	Biomarker	[18]
CCER2	OTSO0W46	Strong	Biomarker	[19]
CEBPZ	OT11BATG	Strong	Biomarker	[20]
CMC4	OTT2YVJ7	Strong	Genetic Variation	[21]
CNOT3	OT4D5Z9L	Strong	Genetic Variation	[22]
CRABP1	OTISDG5X	Strong	Altered Expression	[23]
DSC3	OTYG47F8	Strong	Biomarker	[20]
DYM	OTQ670WI	Strong	Biomarker	[24]
DYNC2H1	OTLC8K6B	Strong	Biomarker	[25]
ECD	OT3L3PCU	Strong	Biomarker	[26]
EMD	OTR8ZANE	Strong	Biomarker	[27]
GEN1	OT1XFQXF	Strong	Biomarker	[28]
MMD	OTB5I4OC	Strong	Biomarker	[29]
OBSCN	OTT14OVX	Strong	Biomarker	[25]
SAMHD1	OTBCIBC7	Strong	Autosomal recessive	[16]
SETD5	OTRPAVEO	Strong	Biomarker	[22]
SGCE	OT9F17JB	Strong	Genetic Variation	[30]
SHOC2	OTUNQ2CT	Strong	Genetic Variation	[31]
SIX3	OTP5E3VU	Strong	Biomarker	[32]
SPTAN1	OT6VY3A3	Strong	Biomarker	[33]
TGIF1	OTN9VHAG	Strong	Genetic Variation	[32]

References

• [1] Associations of Moyamoya patients with HLA class I and class II alleles in the Korean population.J Korean Med Sci. 2003 Dec;18(6):876-80. doi: 10.3346/jkms.2003.18.6.876.
• [2] Identification of HLA-DRB1*04:10 allele as risk allele for Japanese moyamoya disease and its association with autoimmune thyroid disease: A case-control study.PLoS One. 2019 Aug 14;14(8):e0220858. doi: 10.1371/journal.pone.0220858. eCollection 2019.
• [3] Novel Susceptibility Loci for Moyamoya Disease Revealed by a Genome-Wide Association Study.Stroke. 2018 Jan;49(1):11-18. doi: 10.1161/STROKEAHA.117.017430.
• [4] De novo mutations in CBL causing early-onset paediatric moyamoya angiopathy.J Med Genet. 2017 Aug;54(8):550-557. doi: 10.1136/jmedgenet-2016-104432. Epub 2017 Mar 25.
• [5] Progressive Shrinkage of Involved Arteries in Parallel with Disease Progression in Moyamoya Disease.World Neurosurg. 2019 Feb;122:e253-e261. doi: 10.1016/j.wneu.2018.10.001. Epub 2018 Oct 11.
• [6] RNF213 rs112735431 polymorphism in intracranial artery steno-occlusive disease and moyamoya disease in Koreans.J Neurol Sci. 2017 Apr 15;375:331-334. doi: 10.1016/j.jns.2017.02.033. Epub 2017 Feb 16.
• [7] Elevation of Proenkephalin 143-183 in Cerebrospinal Fluid in Moyamoya Disease.World Neurosurg. 2018 Jan;109:e446-e459. doi: 10.1016/j.wneu.2017.09.204. Epub 2017 Oct 13.
• [8] Application of CT perfusion to assess hemodynamics in symptomatic Moyamoya syndrome: focus on affected side and parameter characteristic.Childs Nerv Syst. 2018 Jun;34(6):1189-1197. doi: 10.1007/s00381-018-3727-8. Epub 2018 Jan 27.
• [9] Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome. Nat Genet. 2006 Apr;38(4):452-7. doi: 10.1038/ng1764. Epub 2006 Mar 19.
• [10] Panobinostat, a histone deacetylase inhibitor, rescues the angiogenic potential of endothelial colony-forming cells in moyamoya disease.Childs Nerv Syst. 2019 May;35(5):823-831. doi: 10.1007/s00381-019-04099-y. Epub 2019 Feb 27.
• [11] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
• [12] Moyamoya disease and artery tortuosity as rare phenotypes in a patient with an elastin mutation.Am J Med Genet A. 2016 Jul;170(7):1924-7. doi: 10.1002/ajmg.a.37662. Epub 2016 Apr 15.
• [13] Moyamoya vascular pattern in Alagille syndrome.Pediatr Neurol. 2012 Aug;47(2):125-8. doi: 10.1016/j.pediatrneurol.2012.04.014.
• [14] Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1.PLoS One. 2018 Jul 12;13(7):e0200446. doi: 10.1371/journal.pone.0200446. eCollection 2018.
• [15] Challenges managing end-stage renal disease and kidney transplantation in a child with MTFMT mutation and moyamoya disease.Pediatr Transplant. 2016 Nov;20(7):1000-1003. doi: 10.1111/petr.12758. Epub 2016 Jul 8.
• [16] The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
• [17] "Twig-like" cerebral vessels are not pathognomonic for ACTA A2 mutations: A case report.Interv Neuroradiol. 2018 Aug;24(4):463-468. doi: 10.1177/1591019918765239. Epub 2018 Mar 28.
• [18] Cerebral Perfusion Territory Changes After Direct Revascularization Surgery in Moyamoya Disease: A Territory Arterial Spin Labeling Study.World Neurosurg. 2019 Feb;122:e1128-e1136. doi: 10.1016/j.wneu.2018.11.002. Epub 2018 Nov 14.
• [19] Exome Sequencing Identified CCER2 as a Novel Candidate Gene for Moyamoya Disease.J Stroke Cerebrovasc Dis. 2017 Jan;26(1):150-161. doi: 10.1016/j.jstrokecerebrovasdis.2016.09.003. Epub 2016 Oct 4.
• [20] Bayesian Estimation of CBF Measured by DSC-MRI in Patients with Moyamoya Disease: Comparison with (15)O-Gas PET and Singular Value Decomposition.AJNR Am J Neuroradiol. 2019 Nov;40(11):1894-1900. doi: 10.3174/ajnr.A6248. Epub 2019 Oct 10.
• [21] Loss of BRCC3 deubiquitinating enzyme leads to abnormal angiogenesis and is associated with syndromic moyamoya.Am J Hum Genet. 2011 Jun 10;88(6):718-728. doi: 10.1016/j.ajhg.2011.04.017. Epub 2011 May 19.
• [22] The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy.Genet Med. 2020 Feb;22(2):427-431. doi: 10.1038/s41436-019-0639-2. Epub 2019 Sep 2.
• [23] Elevation of CRABP-I in the cerebrospinal fluid of patients with Moyamoya disease.Stroke. 2003 Dec;34(12):2835-41. doi: 10.1161/01.STR.0000100159.43123.D7. Epub 2003 Nov 6.
• [24] Human arterial smooth muscle cell strains derived from patients with moyamoya disease: changes in biological characteristics and proliferative response during cellular aging in vitro.Mech Ageing Dev. 1994 Jul;75(1):21-33. doi: 10.1016/0047-6374(94)90025-6.
• [25] Exome sequencing in seven families and gene-based association studies indicate genetic heterogeneity and suggest possible candidates for fibromuscular dysplasia.J Hypertens. 2015 Sep;33(9):1802-10; discussion 1810. doi: 10.1097/HJH.0000000000000625.
• [26] Evaluation of 99mTC-ECD SPECT/CT brain Imaging with NeuroGam analysis in Moyamoya disease after surgical revascularization.Medicine (Baltimore). 2019 Nov;98(46):e16525. doi: 10.1097/MD.0000000000016525.
• [27] Surgical Revascularization: Ligation of Extracranial Internal Carotid Artery and Superficial Temporal Artery-to-Middle Cerebral Artery Bypass in Patient with Extracranial Internal Carotid Aneurysm and Hemorrhagic Moyamoya Disease.World Neurosurg. 2019 Jun;126:129-133. doi: 10.1016/j.wneu.2019.02.110. Epub 2019 Mar 1.
• [28] GEN-O-MA project: an Italian network studying clinical course and pathogenic pathways of moyamoya disease-study protocol and preliminary results.Neurol Sci. 2019 Mar;40(3):561-570. doi: 10.1007/s10072-018-3664-z. Epub 2019 Jan 3.
• [29] Systemic sclerosis associated with moyamoya syndrome: A case report and literature review.Immunobiology. 2020 Mar;225(2):151882. doi: 10.1016/j.imbio.2019.11.017. Epub 2019 Nov 28.
• [30] Novel SGCE gene mutation in a Korean patient with myoclonus-dystonia with unique phenotype mimicking Moya-Moya disease.Mov Disord. 2007 Jun 15;22(8):1206-7. doi: 10.1002/mds.21093.
• [31] Moyamoya disease in two patients with Noonan-like syndrome with loose anagen hair.Am J Med Genet A. 2015 Jun;167(6):1285-8. doi: 10.1002/ajmg.a.37053. Epub 2015 Apr 9.
• [32] A novel heterozygous missense mutation 377T > C (V126A) of TGIF gene in a family segregated with holoprosencephaly and moyamoya disease.Prenat Diagn. 2006 Mar;26(3):226-30. doi: 10.1002/pd.1385.
• [33] Anti-alpha-fodrin autoantibodies in Moyamoya disease.Stroke. 2003 Dec;34(12):e244-6. doi: 10.1161/01.STR.0000100479.63243.48. Epub 2003 Dec 1.