Moyamoya disease

Summary
Synonym
  • progressive intracranial arterial occlusion
Definition
A cerebral arterial disease characterized by constriction of certain arteries at the base of the brain. Blood flow is blocked by the constriction and also by blood clots.
Super Class
cerebral arterial disease
Disease Ontology
DOID:13099
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 9 entries
Gene ID Gene Symbol Description Source
58 ACTA1 actin alpha 1, skeletal muscle
59 ACTA2 actin alpha 2, smooth muscle
60 ACTB actin beta
70 ACTC1 actin alpha cardiac muscle 1
71 ACTG1 actin gamma 1
3105 HLA-A major histocompatibility complex, class I, A
55107 ANO1 anoctamin 1
57674 RNF213 ring finger protein 213
345651 ACTBL2 actin beta like 2
Displaying entries 1 - 10 of 17 in total
Gene ID Gene Symbol Description Source
11459 Acta1 actin alpha 1, skeletal muscle
11461 Actb actin, beta
11464 Actc1 actin, alpha, cardiac muscle 1
11465 Actg1 actin, gamma, cytoplasmic 1
11475 Acta2 actin alpha 2, smooth muscle, aorta
14964 H2-D1 histocompatibility 2, D region locus 1
14972 H2-K1 histocompatibility 2, K1, K region
15006 H2-Q1 histocompatibility 2, Q region locus 1
15007 H2-Q10 histocompatibility 2, Q region locus 10
15013 H2-Q2 histocompatibility 2, Q region locus 2
Displaying all 3 entries
Gene ID Gene Symbol Description Source
29275 Actc1 actin, alpha, cardiac muscle 1
29437 Acta1 actin, alpha 1, skeletal muscle
81822 Actb actin, beta
Displaying all 2 entries
Gene ID Gene Symbol Description Source
179197 cri-2 Putative metalloproteinase inhibitor tag-225
179199 timp-1 NTR domain-containing protein
The Human Phenotype Ontology
Displaying all 10 entries
HPO ID HPO Term
HP:0001249 Intellectual disability
HP:0002119 Ventriculomegaly
HP:0001009 Telangiectasia
HP:0100659 Abnormal cerebral vascular morphology
HP:0001250 Seizure
HP:0000007 Autosomal recessive inheritance
HP:0011834 Moyamoya phenomenon
HP:0000006 Autosomal dominant inheritance
HP:0002326 Transient ischemic attack
HP:0004970 Ascending tubular aorta aneurysm
Displaying all 2 entries
Gene ID Gene Symbol Description
57674 RNF213 ring finger protein 213
59 ACTA2 actin alpha 2, smooth muscle

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Last updated: December 9, 2024