MCID: MYM016
MIFTS: 27

Moyamoya Angiopathy

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Moyamoya Angiopathy

MalaCards integrated aliases for Moyamoya Angiopathy:

Name: Moyamoya Angiopathy 58

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Orphanet 58 ORPHA477768

Summaries for Moyamoya Angiopathy

MalaCards based summary : Moyamoya Angiopathy is related to rare disorder with a moyamoya angiopathy and moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism. An important gene associated with Moyamoya Angiopathy is CBL (Cbl Proto-Oncogene), and among its related pathways/superpathways are Innate Immune System and Cytokine Signaling in Immune system. Affiliated tissues include thyroid, brain and smooth muscle, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Related Diseases for Moyamoya Angiopathy

Diseases in the Moyamoya Angiopathy family:

Rare Disorder with a Moyamoya Angiopathy

Diseases related to Moyamoya Angiopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 117)
# Related Disease Score Top Affiliating Genes
1 rare disorder with a moyamoya angiopathy 12.4
2 moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism 11.5
3 moyamoya disease 1 10.5
4 cerebrovascular disease 10.2
5 transient cerebral ischemia 10.1
6 rare surgical neurologic disease 10.1
7 phenytoin or carbamazepine toxicity 10.1 HLA-B HLA-A
8 frontal fibrosing alopecia 10.1 HLA-B HLA-A
9 colorectal cancer, hereditary nonpolyposis, type 8 10.0 HLA-B HLA-A
10 stevens-johnson syndrome/toxic epidermal necrolysis 10.0 HLA-B HLA-A
11 chronic pyelonephritis 10.0 HLA-B HLA-A
12 spastic paraparesis 10.0 HLA-B HLA-A
13 geographic tongue 10.0 HLA-DQB1 HLA-A
14 atrophic glossitis 10.0 HLA-DQB1 HLA-A
15 migraine with or without aura 1 10.0
16 phace association 10.0
17 patent ductus arteriosus 1 10.0
18 multisystemic smooth muscle dysfunction syndrome 10.0
19 moyamoya disease 5 10.0
20 alacrima, achalasia, and mental retardation syndrome 10.0
21 chorea, childhood-onset, with psychomotor retardation 10.0
22 retinal microaneurysm 10.0
23 choreatic disease 10.0
24 branch retinal artery occlusion 10.0
25 chorea gravidarum 10.0
26 hypothyroidism 10.0
27 hemangioma 10.0
28 ischemia 10.0
29 movement disease 10.0
30 thyroid gland disease 10.0
31 retinal artery occlusion 10.0
32 vasculitis 10.0
33 cerebral aneurysms 10.0
34 headache 10.0
35 syncope 10.0
36 tremor 10.0
37 rasopathy 10.0
38 cytomegalovirus infection 10.0 HLA-B HLA-A
39 aphthous stomatitis 10.0 HLA-B HLA-A
40 echinococcosis 9.9 HLA-DRB1 HLA-B
41 spondyloarthropathy 9.8 HLA-B HLA-A
42 pemphigus 9.8 HLA-DRB1 HLA-DQB1
43 limbic encephalitis with lgi1 antibodies 9.8 HLA-DRB1 HLA-DQB1
44 autoimmune polyglandular syndrome type 3 9.8 HLA-DRB1 HLA-DQB1
45 dengue shock syndrome 9.7 HLA-DRB1 HLA-A
46 primary adrenal insufficiency 9.7 HLA-DRB1 HLA-DQB1
47 hypersomnia 9.7 HLA-DRB1 HLA-DQB1
48 narcolepsy 2 9.7 HLA-DRB1 HLA-DQB1
49 type ii mixed cryoglobulinemia 9.7 HLA-DRB1 HLA-DQB1
50 intermediate uveitis 9.7 HLA-DRB1 HLA-B

Graphical network of the top 20 diseases related to Moyamoya Angiopathy:



Diseases related to Moyamoya Angiopathy

Symptoms & Phenotypes for Moyamoya Angiopathy

GenomeRNAi Phenotypes related to Moyamoya Angiopathy according to GeneCards Suite gene sharing:

26 (show all 16)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-103 10.07 HLA-A HLA-B
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.07 RNF213
3 Increased shRNA abundance (Z-score > 2) GR00366-A-110 10.07 HLA-A HLA-B RNF213
4 Increased shRNA abundance (Z-score > 2) GR00366-A-115 10.07 RNF213
5 Increased shRNA abundance (Z-score > 2) GR00366-A-118 10.07 HLA-A HLA-B
6 Increased shRNA abundance (Z-score > 2) GR00366-A-138 10.07 RNF213
7 Increased shRNA abundance (Z-score > 2) GR00366-A-162 10.07 RNF213
8 Increased shRNA abundance (Z-score > 2) GR00366-A-178 10.07 HLA-A HLA-B
9 Increased shRNA abundance (Z-score > 2) GR00366-A-19 10.07 HLA-A HLA-B
10 Increased shRNA abundance (Z-score > 2) GR00366-A-31 10.07 HLA-A HLA-B
11 Increased shRNA abundance (Z-score > 2) GR00366-A-39 10.07 RNF213
12 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.07 RNF213
13 Increased shRNA abundance (Z-score > 2) GR00366-A-5 10.07 RNF213
14 Increased shRNA abundance (Z-score > 2) GR00366-A-7 10.07 HLA-A HLA-B
15 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.07 HLA-A HLA-B
16 Increased shRNA abundance GR00327-A 9.13 CBL HLA-B HLA-DQB1

Drugs & Therapeutics for Moyamoya Angiopathy

Search Clinical Trials , NIH Clinical Center for Moyamoya Angiopathy

Genetic Tests for Moyamoya Angiopathy

Anatomical Context for Moyamoya Angiopathy

MalaCards organs/tissues related to Moyamoya Angiopathy:

40
Thyroid, Brain, Smooth Muscle, Lung, Tongue

Publications for Moyamoya Angiopathy

Articles related to Moyamoya Angiopathy:

(show top 50) (show all 63)
# Title Authors PMID Year
1
Moyamoya disease associated with fibromuscular dysplasia of intrapulmonary bronchial arteries-a case report. 61
31869771 2020
2
The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy. 61
31474762 2020
3
Xq28 copy number gain causing moyamoya disease and a novel moyamoya syndrome. 61
31924698 2020
4
Decreased frontal white-matter diffusion and improved cognitive flexibility after burr-hole surgery in moyamoya angiopathy. 61
31959138 2020
5
Lessons Learned from the Initial Experience with Pedicled Temporoparietal Fascial Flap for Combined Revascularization In Moyamoya Angiopathy: A Case Series. 61
31491577 2019
6
Three-Vessel Anastomosis for Direct Bihemispheric Cerebral Revascularization. 61
31875893 2019
7
Neuropsychological impairment in adults with moyamoya angiopathy: preoperative assessment and correlation to MRI and H215O PET. 61
31728848 2019
8
Thalassemia and Moyamoya syndrome: unfurling an intriguing association. 61
31422456 2019
9
Histopathology of Moyamoya angiopathy in a European patient. 61
31165233 2019
10
Predictors of clinical or cerebral lesion progression in adult moyamoya angiopathy. 61
31239360 2019
11
Moyamoya angiopathy in PHACE syndrome not associated with RNF213 variants. 61
31037424 2019
12
Clinical presentation of Moyamoya angiopathy in Europeans: experiences from Germany with 200 patients. 61
30868219 2019
13
Arterial ischemic stroke in non-neonate children: Diagnostic and therapeutic specificities. 61
31182310 2019
14
Misdiagnoses and delay of diagnoses in Moyamoya angiopathy-a large Caucasian case series. 61
30805794 2019
15
Clinical and Molecular Features of 5 European Multigenerational Families With Moyamoya Angiopathy. 61
30908154 2019
16
Adult moyamoya angiopathy in Bourgogne-Franche-Comté: Epidemiology, diagnosis and management. 61
30447881 2019
17
Moyamoya angiopathy: long-term follow-up study in a Finnish population. 61
30560456 2019
18
GEN-O-MA project: an Italian network studying clinical course and pathogenic pathways of moyamoya disease-study protocol and preliminary results. 61
30604336 2019
19
Marked Changes in Blood-Brain Barrier Biomarkers After Direct Bypass Surgery for Moyamoya Angiopathy: Preliminary Study. 61
30165210 2018
20
Chronic Dilatation of Superficial Temporal Artery and Middle Meningeal Artery Associated with Development of Collateral Circulation After Bypass Surgery for Moyamoya Angiopathy. 61
30099176 2018
21
Microduplication of 15q13.3 and Microdeletion of 18q21.32 in a Patient with Moyamoya Syndrome. 61
30463371 2018
22
Efficacy of STA-MCA bypass surgery in moyamoya angiopathy: long-term follow-up of the Caucasian Krupp Hospital cohort with 81 procedures. 61
30155735 2018
23
Moyamoya angiopathy: early postoperative course within 3 months after STA-MCA-bypass surgery in Europe-a retrospective analysis of 64 procedures. 61
30120561 2018
24
Visualization and Classification of Deeply Seated Collateral Networks in Moyamoya Angiopathy with 7T MRI. 61
29880473 2018
25
French clinical practice guidelines for Moyamoya angiopathy. 61
29519672 2018
26
Distinctive facial features in idiopathic Moyamoya disease in Caucasians: a first systematic analysis. 61
29977664 2018
27
Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1. 61
30001348 2018
28
Measuring Cerebral Blood Flow in Moyamoya Angiopathy by Quantitative Magnetic Resonance Angiography Noninvasive Optimal Vessel Analysis. 61
28204602 2017
29
Postoperative Dilatation of Superficial Temporal Artery Associated with Transient Neurologic Symptoms After Direct Bypass Surgery for Moyamoya Angiopathy. 61
28720528 2017
30
Juvenile Moyamoya and Craniosynostosis in a Child with Deletion 1p32p31: Expanding the Clinical Spectrum of 1p32p31 Deletion Syndrome and a Review of the Literature. 61
28926972 2017
31
Steroid sulfatase and filaggrin mutations in a boy with severe ichthyosis, elevated serum IgE level and moyamoya syndrome. 61
28710038 2017
32
De novo mutations in CBL causing early-onset paediatric moyamoya angiopathy. 61
28343148 2017
33
Rare RNF213 variants in the C-terminal region encompassing the RING-finger domain are associated with moyamoya angiopathy in Caucasians. 61
28635953 2017
34
Chorea gravidarum associated with Moyamoya angiopathy treated with alpha-methyldopa. 61
28526173 2017
35
Long-term Outcome After Multiple Burr Hole Surgery in Children With Moyamoya Angiopathy: A Single-Center Experience in 108 Hemispheres. 61
28327981 2017
36
Headache in Caucasian patients with Moyamoya angiopathy - a systematic cohort study. 61
27112705 2017
37
Revascularization of Moyamoya Angiopathy in Older Adults. 61
27890765 2017
38
Moyamoya in a Patient with FIRES: A First Case Report. 61
28436815 2017
39
Movement symptoms in European Moyamoya angiopathy - First systematic questionnaire study. 61
27898361 2017
40
Direct Bypass Versus Indirect Bypass in Adult Moyamoya Angiopathy with Symptoms or Hemodynamic Instability: A Meta-analysis of Comparative Studies. 61
27423200 2016
41
Moyamoya syndrome and 6p chromosome rearrangements: Expanding evidences of a new association. 61
27236536 2016
42
Ventricular Microaneurysms in Moyamoya Angiopathy Visualized with 7T MR Angiography. 61
27151748 2016
43
A new horizon of moyamoya disease and associated health risks explored through RNF213. 61
26662949 2016
44
Haemophilia A and cardiovascular morbidity in a female SHAM syndrome carrier due to skewed X chromosome inactivation. 61
26691666 2016
45
Retinal pathology in idiopathic moyamoya angiopathy detected by optical coherence tomography. 61
26180140 2015
46
Indications and results of direct cerebral revascularization in the modern era. 61
25451808 2015
47
The collateral circulation in pediatric moyamoya disease. 61
25378261 2015
48
Moyamoya disease and syndromes: from genetics to clinical management. 61
25733922 2015
49
Moyamoya angiopathy - Is there a Western phenotype? 61
26473792 2015
50
Surgical outcomes for moyamoya angiopathy at barrow neurological institute with comparison of adult indirect encephaloduroarteriosynangiosis bypass, adult direct superficial temporal artery-to-middle cerebral artery bypass, and pediatric bypass: 154 revascularization surgeries in 140 affected hemispheres. 61
23756739 2013

Variations for Moyamoya Angiopathy

Expression for Moyamoya Angiopathy

Search GEO for disease gene expression data for Moyamoya Angiopathy.

Pathways for Moyamoya Angiopathy

Pathways related to Moyamoya Angiopathy according to GeneCards Suite gene sharing:

(show all 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.58 RNF213 HLA-DRB1 HLA-DQB1 HLA-B HLA-A CBL
2
Show member pathways
12.91 HLA-DRB1 HLA-DQB1 HLA-B HLA-A CBL
3
Show member pathways
12.81 RNF213 HLA-DRB1 HLA-DQB1 HLA-B HLA-A CBL
4
Show member pathways
12.63 HLA-DRB1 HLA-DQB1 HLA-B HLA-A
5
Show member pathways
12.52 HLA-DRB1 HLA-DQB1 HLA-B HLA-A
6
Show member pathways
12.46 HLA-DRB1 HLA-DQB1 HLA-B HLA-A
7 12.42 HLA-DRB1 HLA-DQB1 HLA-B HLA-A
8
Show member pathways
12.21 HLA-B HLA-A CBL
9 12.11 HLA-B HLA-A CBL
10
Show member pathways
12.11 HLA-DRB1 HLA-DQB1 HLA-B HLA-A
11 11.9 HLA-DRB1 HLA-DQB1 HLA-B HLA-A
12
Show member pathways
11.58 HLA-DRB1 HLA-A CBL
13 11.54 HLA-DRB1 HLA-DQB1
14
Show member pathways
11.51 HLA-DRB1 HLA-DQB1
15 11.44 HLA-DRB1 HLA-DQB1 HLA-B HLA-A
16 11.42 HLA-DRB1 HLA-DQB1
17 11.09 HLA-DRB1 HLA-DQB1 HLA-B HLA-A
18 10.92 HLA-B HLA-A

GO Terms for Moyamoya Angiopathy

Cellular components related to Moyamoya Angiopathy according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 Golgi apparatus GO:0005794 9.71 HLA-DRB1 HLA-B HLA-A CBL
2 trans-Golgi network membrane GO:0032588 9.49 HLA-DRB1 HLA-DQB1
3 recycling endosome membrane GO:0055038 9.48 HLA-B HLA-A
4 phagocytic vesicle membrane GO:0030670 9.46 HLA-B HLA-A
5 endocytic vesicle membrane GO:0030666 9.43 HLA-DRB1 HLA-DQB1
6 transport vesicle membrane GO:0030658 9.37 HLA-DRB1 HLA-DQB1
7 clathrin-coated endocytic vesicle membrane GO:0030669 9.32 HLA-DRB1 HLA-DQB1
8 MHC class II protein complex GO:0042613 9.26 HLA-DRB1 HLA-DQB1
9 ER to Golgi transport vesicle membrane GO:0012507 9.26 HLA-DRB1 HLA-DQB1 HLA-B HLA-A
10 MHC class I protein complex GO:0042612 9.16 HLA-B HLA-A
11 integral component of lumenal side of endoplasmic reticulum membrane GO:0071556 8.92 HLA-DRB1 HLA-DQB1 HLA-B HLA-A

Biological processes related to Moyamoya Angiopathy according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.76 HLA-DRB1 HLA-DQB1 HLA-B HLA-A
2 immune response GO:0006955 9.71 HLA-DRB1 HLA-DQB1 HLA-B HLA-A
3 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent GO:0002479 9.51 HLA-B HLA-A
4 type I interferon signaling pathway GO:0060337 9.49 HLA-B HLA-A
5 antigen processing and presentation of peptide antigen via MHC class I GO:0002474 9.48 HLA-B HLA-A
6 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II GO:0002504 9.43 HLA-DRB1 HLA-DQB1
7 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent GO:0002480 9.37 HLA-B HLA-A
8 protection from natural killer cell mediated cytotoxicity GO:0042270 9.32 HLA-B HLA-A
9 humoral immune response mediated by circulating immunoglobulin GO:0002455 9.26 HLA-DRB1 HLA-DQB1
10 interferon-gamma-mediated signaling pathway GO:0060333 9.26 HLA-DRB1 HLA-DQB1 HLA-B HLA-A
11 immunoglobulin production involved in immunoglobulin mediated immune response GO:0002381 9.16 HLA-DRB1 HLA-DQB1
12 antigen processing and presentation GO:0019882 8.92 HLA-DRB1 HLA-DQB1 HLA-B HLA-A

Molecular functions related to Moyamoya Angiopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 MHC class II receptor activity GO:0032395 8.96 HLA-DRB1 HLA-DQB1
2 peptide antigen binding GO:0042605 8.92 HLA-DRB1 HLA-DQB1 HLA-B HLA-A

Sources for Moyamoya Angiopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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