MYMY6
MCID: MYM008
MIFTS: 18

Moyamoya 6 with Achalasia (MYMY6) malady

Categories: Genetic diseases, Neuronal diseases, Gastrointestinal diseases, Rare diseases

Aliases & Classifications for Moyamoya 6 with Achalasia

Aliases & Descriptions for Moyamoya 6 with Achalasia:

Name: Moyamoya 6 with Achalasia 54
Moyamoya Disease 6 with Achalasia 54 66 29 69
Moyamoya Disease with Early-Onset Achalasia 56
Mymy6 66

Characteristics:

Orphanet epidemiological data:

56
moyamoya disease with early-onset achalasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

HPO:

32
moyamoya 6 with achalasia:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:



External Ids:

OMIM 54 615750
Orphanet 56 ORPHA401945
ICD10 via Orphanet 34 I67.5
MeSH 42 D009072

Summaries for Moyamoya 6 with Achalasia

UniProtKB/Swiss-Prot : 66 Moyamoya disease 6 with achalasia: A form of Moyamoya disease, a progressive cerebral angiopathy characterized by bilateral intracranial carotid artery stenosis and telangiectatic vessels in the region of the basal ganglia. The abnormal vessels resemble a 'puff of smoke' (moyamoya) on cerebral angiogram. Affected individuals can develop transient ischemic attacks and/or cerebral infarction, and rupture of the collateral vessels can cause intracranial hemorrhage. Hemiplegia of sudden onset and epileptic seizures constitute the prevailing presentation in childhood, while subarachnoid bleeding occurs more frequently in adults. MYMY6 is characterized by severe cerebral angiopathy and onset of severe achalasia in infancy or early childhood.

MalaCards based summary : Moyamoya 6 with Achalasia, also known as moyamoya disease 6 with achalasia, is related to moyamoya disease, and has symptoms including hypertension, thrombocytopenia and stroke. An important gene associated with Moyamoya 6 with Achalasia is GUCY1A3 (Guanylate Cyclase 1 Soluble Subunit Alpha). Affiliated tissues include brain.

OMIM : 54 Moyamoya disease-6 with achalasia is an autosomal recessive disorder characterized by onset of severe achalasia in... (615750) more...

Related Diseases for Moyamoya 6 with Achalasia

Diseases related to Moyamoya 6 with Achalasia via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 moyamoya disease 10.8

Symptoms & Phenotypes for Moyamoya 6 with Achalasia

Symptoms by clinical synopsis from OMIM:

615750

Clinical features from OMIM:

615750

Human phenotypes related to Moyamoya 6 with Achalasia:

56 32 (show all 14)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 56 32 Frequent (79-30%) HP:0000822
2 thrombocytopenia 56 32 Occasional (29-5%) HP:0001873
3 stroke 56 32 Obligate (100%) HP:0001297
4 cutis marmorata 56 32 Occasional (29-5%) HP:0000965
5 raynaud phenomenon 56 32 Occasional (29-5%) HP:0030880
6 moyamoya phenomenon 56 32 Frequent (79-30%) HP:0011834
7 abnormal platelet aggregation 56 32 Occasional (29-5%) HP:0030402
8 seizures 32 HP:0001250
9 hemiparesis 32 HP:0001269
10 dysphagia 32 HP:0002015
11 achalasia 32 HP:0002571
12 abnormality of the cerebral vasculature 56 Frequent (79-30%)
13 impotence 32 HP:0000802
14 ischemic stroke 32 HP:0002140

Drugs & Therapeutics for Moyamoya 6 with Achalasia

Search Clinical Trials , NIH Clinical Center for Moyamoya 6 with Achalasia

Genetic Tests for Moyamoya 6 with Achalasia

Genetic tests related to Moyamoya 6 with Achalasia:

id Genetic test Affiliating Genes
1 Moyamoya Disease 6 with Achalasia 29

Anatomical Context for Moyamoya 6 with Achalasia

MalaCards organs/tissues related to Moyamoya 6 with Achalasia:

39
Brain

Publications for Moyamoya 6 with Achalasia

Variations for Moyamoya 6 with Achalasia

ClinVar genetic disease variations for Moyamoya 6 with Achalasia:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 GUCY1A3 NM_000856.5(GUCY1A3): c.1086+1G> A single nucleotide variant Pathogenic rs587777320 GRCh37 Chromosome 4, 156632404: 156632404
2 GUCY1A3 NM_000856.5(GUCY1A3): c.1045C> T (p.Arg349Ter) single nucleotide variant Pathogenic rs587777321 GRCh37 Chromosome 4, 156632362: 156632362
3 GUCY1A3 NM_000856.5(GUCY1A3): c.1170delA (p.Glu391Lysfs) deletion Pathogenic rs587777322 GRCh37 Chromosome 4, 156634333: 156634333

Expression for Moyamoya 6 with Achalasia

Search GEO for disease gene expression data for Moyamoya 6 with Achalasia.

Pathways for Moyamoya 6 with Achalasia

GO Terms for Moyamoya 6 with Achalasia

Sources for Moyamoya 6 with Achalasia

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7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
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54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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