MCID: MYM016
MIFTS: 26

Moyamoya Angiopathy

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Moyamoya Angiopathy

MalaCards integrated aliases for Moyamoya Angiopathy:

Name: Moyamoya Angiopathy 59

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Orphanet 59 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 brain, and related phenotype is Increased shRNA abundance.

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 103)
# 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 phenytoin or carbamazepine toxicity 10.3 HLA-B HLA-A
5 htlv-1 associated myelopathy/tropical spastic paraparesis 10.2 HLA-B HLA-A
6 atrial tachyarrhythmia with short pr interval 10.2 HLA-B HLA-A
7 anterior uveitis 10.2 HLA-B HLA-A
8 chronic pyelonephritis 10.2 HLA-B HLA-A
9 human herpesvirus 8 10.2 HLA-B HLA-A
10 hematopoietic stem cell transplantation 10.2 HLA-B HLA-A
11 separation anxiety disorder 10.2 HLA-B HLA-A
12 stevens-johnson syndrome/toxic epidermal necrolysis 10.1 HLA-B HLA-A
13 aphthous stomatitis 10.1 HLA-B HLA-A
14 transient cerebral ischemia 10.1
15 cerebrovascular disease 10.1
16 rare surgical neurologic disease 10.1
17 spondyloarthropathy 10.1 HLA-B HLA-A
18 herpes zoster 10.1 HLA-B HLA-A
19 severe cutaneous adverse reaction 10.0 HLA-B HLA-A
20 dermatitis herpetiformis 10.0 HLA-DQB1 HLA-A
21 migraine with or without aura 1 10.0
22 patent ductus arteriosus 1 10.0
23 multisystemic smooth muscle dysfunction syndrome 10.0
24 moyamoya disease 5 10.0
25 chorea, childhood-onset, with psychomotor retardation 10.0
26 retinal microaneurysm 10.0
27 choreatic disease 10.0
28 branch retinal artery occlusion 10.0
29 chorea gravidarum 10.0
30 hypothyroidism 10.0
31 hemangioma 10.0
32 ischemia 10.0
33 movement disease 10.0
34 thyroid gland disease 10.0
35 retinal artery occlusion 10.0
36 vasculitis 10.0
37 phace syndrome 10.0
38 cerebral aneurysms 10.0
39 headache 10.0
40 syncope 10.0
41 tremor 10.0
42 rasopathy 10.0
43 cytomegalovirus infection 10.0 HLA-B HLA-A
44 bare lymphocyte syndrome, type ii 10.0 HLA-DQB1 HLA-A
45 echinococcosis 9.9 HLA-DRB1 HLA-B
46 idiopathic inflammatory myopathy 9.9 HLA-DRB1 HLA-B
47 celiac disease 1 9.9 HLA-DQB1 HLA-A
48 palindromic rheumatism 9.8 HLA-DRB1 HLA-A
49 dengue shock syndrome 9.8 HLA-DRB1 HLA-A
50 limbic encephalitis with lgi1 antibodies 9.8 HLA-DRB1 HLA-DQB1

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
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance GR00327-A 8.8 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:

41
Brain

Publications for Moyamoya Angiopathy

Articles related to Moyamoya Angiopathy:

(show top 50) (show all 56)
# Title Authors PMID Year
1
Histopathology of Moyamoya angiopathy in a European patient. 38
31165233 2019
2
Thalassemia and Moyamoya syndrome: unfurling an intriguing association. 38
31422456 2019
3
Moyamoya angiopathy in PHACE syndrome not associated with RNF213 variants. 38
31037424 2019
4
Predictors of clinical or cerebral lesion progression in adult moyamoya angiopathy. 38
31239360 2019
5
Arterial ischemic stroke in non-neonate children: Diagnostic and therapeutic specificities. 38
31182310 2019
6
Clinical presentation of Moyamoya angiopathy in Europeans: experiences from Germany with 200 patients. 38
30868219 2019
7
Misdiagnoses and delay of diagnoses in Moyamoya angiopathy-a large Caucasian case series. 38
30805794 2019
8
Clinical and Molecular Features of 5 European Multigenerational Families With Moyamoya Angiopathy. 38
30908154 2019
9
Adult moyamoya angiopathy in Bourgogne-Franche-Comté: Epidemiology, diagnosis and management. 38
30447881 2019
10
GEN-O-MA project: an Italian network studying clinical course and pathogenic pathways of moyamoya disease-study protocol and preliminary results. 38
30604336 2019
11
Moyamoya angiopathy: long-term follow-up study in a Finnish population. 38
30560456 2019
12
Marked Changes in Blood-Brain Barrier Biomarkers After Direct Bypass Surgery for Moyamoya Angiopathy: Preliminary Study. 38
30165210 2018
13
Chronic Dilatation of Superficial Temporal Artery and Middle Meningeal Artery Associated with Development of Collateral Circulation After Bypass Surgery for Moyamoya Angiopathy. 38
30099176 2018
14
Microduplication of 15q13.3 and Microdeletion of 18q21.32 in a Patient with Moyamoya Syndrome. 38
30463371 2018
15
Moyamoya angiopathy: early postoperative course within 3 months after STA-MCA-bypass surgery in Europe-a retrospective analysis of 64 procedures. 38
30120561 2018
16
Efficacy of STA-MCA bypass surgery in moyamoya angiopathy: long-term follow-up of the Caucasian Krupp Hospital cohort with 81 procedures. 38
30155735 2018
17
Visualization and Classification of Deeply Seated Collateral Networks in Moyamoya Angiopathy with 7T MRI. 38
29880473 2018
18
French clinical practice guidelines for Moyamoya angiopathy. 38
29519672 2018
19
Distinctive facial features in idiopathic Moyamoya disease in Caucasians: a first systematic analysis. 38
29977664 2018
20
Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1. 38
30001348 2018
21
Measuring Cerebral Blood Flow in Moyamoya Angiopathy by Quantitative Magnetic Resonance Angiography Noninvasive Optimal Vessel Analysis. 38
28204602 2017
22
Postoperative Dilatation of Superficial Temporal Artery Associated with Transient Neurologic Symptoms After Direct Bypass Surgery for Moyamoya Angiopathy. 38
28720528 2017
23
Juvenile Moyamoya and Craniosynostosis in a Child with Deletion 1p32p31: Expanding the Clinical Spectrum of 1p32p31 Deletion Syndrome and a Review of the Literature. 38
28926972 2017
24
Steroid sulfatase and filaggrin mutations in a boy with severe ichthyosis, elevated serum IgE level and moyamoya syndrome. 38
28710038 2017
25
De novo mutations in CBL causing early-onset paediatric moyamoya angiopathy. 38
28343148 2017
26
Rare RNF213 variants in the C-terminal region encompassing the RING-finger domain are associated with moyamoya angiopathy in Caucasians. 38
28635953 2017
27
Chorea gravidarum associated with Moyamoya angiopathy treated with alpha-methyldopa. 38
28526173 2017
28
Long-term Outcome After Multiple Burr Hole Surgery in Children With Moyamoya Angiopathy: A Single-Center Experience in 108 Hemispheres. 38
28327981 2017
29
Headache in Caucasian patients with Moyamoya angiopathy - a systematic cohort study. 38
27112705 2017
30
Revascularization of Moyamoya Angiopathy in Older Adults. 38
27890765 2017
31
Moyamoya in a Patient with FIRES: A First Case Report. 38
28436815 2017
32
Movement symptoms in European Moyamoya angiopathy - First systematic questionnaire study. 38
27898361 2017
33
Direct Bypass Versus Indirect Bypass in Adult Moyamoya Angiopathy with Symptoms or Hemodynamic Instability: A Meta-analysis of Comparative Studies. 38
27423200 2016
34
Moyamoya syndrome and 6p chromosome rearrangements: Expanding evidences of a new association. 38
27236536 2016
35
Ventricular Microaneurysms in Moyamoya Angiopathy Visualized with 7T MR Angiography. 38
27151748 2016
36
A new horizon of moyamoya disease and associated health risks explored through RNF213. 38
26662949 2016
37
Haemophilia A and cardiovascular morbidity in a female SHAM syndrome carrier due to skewed X chromosome inactivation. 38
26691666 2016
38
Retinal pathology in idiopathic moyamoya angiopathy detected by optical coherence tomography. 38
26180140 2015
39
Indications and results of direct cerebral revascularization in the modern era. 38
25451808 2015
40
The collateral circulation in pediatric moyamoya disease. 38
25378261 2015
41
Moyamoya disease and syndromes: from genetics to clinical management. 38
25733922 2015
42
Moyamoya angiopathy - Is there a Western phenotype? 38
26473792 2015
43
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. 38
23756739 2013
44
Analysis of human leucocyte antigen genes in Caucasian patients with idiopathic moyamoya angiopathy. 38
22234791 2012
45
[Operative neurosurgery: personal view and historical backgrounds (9) Moyamoya angiopathy (MMA): past history and status presens]. 38
22223526 2012
46
Loss of BRCC3 deubiquitinating enzyme leads to abnormal angiogenesis and is associated with syndromic moyamoya. 38
21596366 2011
47
Failure of primary percutaneous angioplasty and stenting in the prevention of ischemia in Moyamoya angiopathy. 38
21135550 2011
48
Majewski osteodysplastic primordial dwarfism type II (MOPD II): expanding the vascular phenotype. 38
20358609 2010
49
[On the occasion of my retirement as head of the Neurochirurgische Universitätsklinik Zürich--part II--presentation of our achievement with mention of development of neuroscience in Zürich-Switzerland]. 38
19526834 2009
50
[On the occasion of my retirement as head of the Neurochirurgische Universitätsklinik Zürich--changing aspects of treatment modality in modern neurosurgery and of neuroscience research. Presentation of our experience and historical backgrounds]. 38
18516976 2008

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 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.55 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
12.59 HLA-DRB1 HLA-DQB1 HLA-B HLA-A
5
Show member pathways
12.47 HLA-DRB1 HLA-DQB1 HLA-B HLA-A
6
Show member pathways
12.18 HLA-B HLA-A CBL
7
Show member pathways
12.11 HLA-DRB1 HLA-DQB1 HLA-B HLA-A
8 12.07 HLA-B HLA-A CBL
9 11.9 HLA-DRB1 HLA-DQB1 HLA-B HLA-A
10
Show member pathways
11.58 HLA-DRB1 HLA-A CBL
11 11.55 HLA-DRB1 HLA-DQB1
12 11.53 HLA-DRB1 HLA-DQB1
13 11.52 HLA-DRB1 HLA-DQB1
14 11.44 HLA-DRB1 HLA-DQB1 HLA-B HLA-A
15 11.4 HLA-DRB1 HLA-DQB1
16 11.09 HLA-DRB1 HLA-DQB1 HLA-B HLA-A
17 10.89 HLA-B HLA-A

GO Terms for Moyamoya Angiopathy

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 Golgi apparatus GO:0005794 9.73 HLA-DRB1 HLA-B HLA-A CBL
2 Golgi membrane GO:0000139 9.56 HLA-DRB1 HLA-DQB1 HLA-B HLA-A
3 trans-Golgi network membrane GO:0032588 9.51 HLA-DRB1 HLA-DQB1
4 recycling endosome membrane GO:0055038 9.49 HLA-B HLA-A
5 phagocytic vesicle membrane GO:0030670 9.48 HLA-B HLA-A
6 endocytic vesicle membrane GO:0030666 9.46 HLA-DRB1 HLA-DQB1
7 transport vesicle membrane GO:0030658 9.4 HLA-DRB1 HLA-DQB1
8 clathrin-coated endocytic vesicle membrane GO:0030669 9.37 HLA-DRB1 HLA-DQB1
9 MHC class II protein complex GO:0042613 9.32 HLA-DRB1 HLA-DQB1
10 ER to Golgi transport vesicle membrane GO:0012507 9.26 HLA-DRB1 HLA-DQB1 HLA-B HLA-A
11 MHC class I protein complex GO:0042612 9.16 HLA-B HLA-A
12 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 15)
# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.73 HLA-DRB1 HLA-DQB1 HLA-B HLA-A
2 protein ubiquitination GO:0016567 9.71 RNF213 HLA-A CBL
3 antigen processing and presentation of exogenous peptide antigen via MHC class II GO:0019886 9.55 HLA-DRB1 HLA-DQB1
4 type I interferon signaling pathway GO:0060337 9.52 HLA-B HLA-A
5 antigen processing and presentation of peptide antigen via MHC class I GO:0002474 9.51 HLA-B HLA-A
6 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent GO:0002479 9.49 HLA-B HLA-A
7 positive regulation of T cell mediated cytotoxicity GO:0001916 9.48 HLA-B HLA-A
8 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II GO:0002504 9.46 HLA-DRB1 HLA-DQB1
9 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent GO:0002480 9.4 HLA-B HLA-A
10 antigen processing and presentation of endogenous peptide antigen via MHC class Ib GO:0002476 9.37 HLA-B HLA-A
11 protection from natural killer cell mediated cytotoxicity GO:0042270 9.32 HLA-B HLA-A
12 humoral immune response mediated by circulating immunoglobulin GO:0002455 9.26 HLA-DRB1 HLA-DQB1
13 interferon-gamma-mediated signaling pathway GO:0060333 9.26 HLA-DRB1 HLA-DQB1 HLA-B HLA-A
14 immunoglobulin production involved in immunoglobulin mediated immune response GO:0002381 9.16 HLA-DRB1 HLA-DQB1
15 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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