MYMY6
MCID: MYM015
MIFTS: 20

Moyamoya Disease 6 with or Without Achalasia (MYMY6)

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

Aliases & Classifications for Moyamoya Disease 6 with or Without Achalasia

MalaCards integrated aliases for Moyamoya Disease 6 with or Without Achalasia:

Name: Moyamoya Disease 6 with or Without Achalasia 57
Moyamoya Disease 6 with Achalasia 75 29 6
Mymy6 57 75
Moyamoya Disease with Early-Onset Achalasia 59
Moyamoya, with Achalasia, Type 6 40
Moyamoya 6 with Achalasia 57

Characteristics:

Orphanet epidemiological data:

59
moyamoya disease with early-onset achalasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
onset of achalasia in infancy or early childhood
some patients do not develop stroke


HPO:

32
moyamoya disease 6 with or without achalasia:
Onset and clinical course variable expressivity
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Moyamoya Disease 6 with or Without Achalasia

UniProtKB/Swiss-Prot : 75 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 Disease 6 with or Without Achalasia, is also known as moyamoya disease 6 with achalasia. An important gene associated with Moyamoya Disease 6 with or Without Achalasia is GUCY1A1 (Guanylate Cyclase 1 Soluble Subunit Alpha 1). Related phenotypes are hypertension and thrombocytopenia

OMIM : 57 Moyamoya disease-6 is a progressive vasculopathy characterized by occlusion of the terminal portion of the internal carotid arteries and its branches, and the formation of compensatory neovascularization and the moyamoya, or 'puff of smoke,' appearance of these vessels on angiogram. Affected individuals may present with ischemic strokes, intracerebral hemorrhage, or transient ischemic attacks. Patients with MYMY6 usually present early in life with achalasia. Hypertension and Raynaud phenomenon may be associated features (summary by Wallace et al., 2016; Herve et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of moyamoya disease, see MYMY1 (252350). (615750)

Related Diseases for Moyamoya Disease 6 with or Without Achalasia

Symptoms & Phenotypes for Moyamoya Disease 6 with or Without Achalasia

Symptoms via clinical synopsis from OMIM:

57
Abdomen Gastrointestinal:
dysphagia
achalasia

Cardiovascular Vascular:
hypertension (in some patients)
moyamoya disease
stenosis of the intracranial arteries
ischemic stroke (in some patients)
raynaud phenomenon (in some patients)

Skin Nails Hair Skin:
raynaud phenomenon (in some patients)
livedo reticularis (1 patient)

Genitourinary External Genitalia Male:
erectile dysfunction

Neurologic Central Nervous System:
seizures (1 patient)
hemiparesis (in some patients)
ischemic stroke (in some patients)


Clinical features from OMIM:

615750

Human phenotypes related to Moyamoya Disease 6 with or Without Achalasia:

59 32 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 59 32 occasional (7.5%) Frequent (79-30%) HP:0000822
2 thrombocytopenia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001873
3 stroke 59 32 obligate (100%) Obligate (100%) HP:0001297
4 cutis marmorata 59 32 occasional (7.5%) Occasional (29-5%) HP:0000965
5 raynaud phenomenon 59 32 occasional (7.5%) Occasional (29-5%) HP:0030880
6 moyamoya phenomenon 59 32 frequent (33%) Frequent (79-30%) HP:0011834
7 abnormal platelet aggregation 59 32 occasional (7.5%) Occasional (29-5%) HP:0030402
8 seizures 32 occasional (7.5%) HP:0001250
9 dysphagia 32 HP:0002015
10 achalasia 32 HP:0002571
11 abnormality of the cerebral vasculature 59 Frequent (79-30%)
12 impotence 32 HP:0000802
13 hemiparesis 32 occasional (7.5%) HP:0001269
14 ischemic stroke 32 occasional (7.5%) HP:0002140

Drugs & Therapeutics for Moyamoya Disease 6 with or Without Achalasia

Search Clinical Trials , NIH Clinical Center for Moyamoya Disease 6 with or Without Achalasia

Genetic Tests for Moyamoya Disease 6 with or Without Achalasia

Genetic tests related to Moyamoya Disease 6 with or Without Achalasia:

# Genetic test Affiliating Genes
1 Moyamoya Disease 6 with Achalasia 29 GUCY1A1

Anatomical Context for Moyamoya Disease 6 with or Without Achalasia

Publications for Moyamoya Disease 6 with or Without Achalasia

Variations for Moyamoya Disease 6 with or Without Achalasia

ClinVar genetic disease variations for Moyamoya Disease 6 with or Without Achalasia:

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 GUCY1A1 NM_000856.5(GUCY1A1): c.1086+1G> A single nucleotide variant Pathogenic rs587777320 GRCh37 Chromosome 4, 156632404: 156632404
2 GUCY1A1 NM_000856.5(GUCY1A1): c.1086+1G> A single nucleotide variant Pathogenic rs587777320 GRCh38 Chromosome 4, 155711252: 155711252
3 GUCY1A1 NM_000856.5(GUCY1A1): c.1045C> T (p.Arg349Ter) single nucleotide variant Pathogenic rs587777321 GRCh37 Chromosome 4, 156632362: 156632362
4 GUCY1A1 NM_000856.5(GUCY1A1): c.1045C> T (p.Arg349Ter) single nucleotide variant Pathogenic rs587777321 GRCh38 Chromosome 4, 155711210: 155711210
5 GUCY1A1 NM_000856.5(GUCY1A1): c.1170delA (p.Glu391Lysfs) deletion Pathogenic rs587777322 GRCh37 Chromosome 4, 156634333: 156634333
6 GUCY1A1 NM_000856.5(GUCY1A1): c.1170delA (p.Glu391Lysfs) deletion Pathogenic rs587777322 GRCh38 Chromosome 4, 155713181: 155713181
7 GUCY1A1 NM_000856.5(GUCY1A1): c.1258C> T (p.Arg420Ter) single nucleotide variant Pathogenic rs373182378 GRCh38 Chromosome 4, 155713269: 155713269
8 GUCY1A1 NM_000856.5(GUCY1A1): c.1258C> T (p.Arg420Ter) single nucleotide variant Pathogenic rs373182378 GRCh37 Chromosome 4, 156634421: 156634421
9 GUCY1A1 NM_000856.5(GUCY1A1): c.1550G> A (p.Cys517Tyr) single nucleotide variant Pathogenic rs751701114 GRCh37 Chromosome 4, 156634713: 156634713
10 GUCY1A1 NM_000856.5(GUCY1A1): c.1550G> A (p.Cys517Tyr) single nucleotide variant Pathogenic rs751701114 GRCh38 Chromosome 4, 155713561: 155713561
11 GUCY1A1 NM_000856.5(GUCY1A1): c.334_335delGA (p.Glu112Argfs) deletion Pathogenic GRCh37 Chromosome 4, 156629404: 156629405
12 GUCY1A1 NM_000856.5(GUCY1A1): c.334_335delGA (p.Glu112Argfs) deletion Pathogenic GRCh38 Chromosome 4, 155708252: 155708253
13 GUCY1A1 NM_000856.5(GUCY1A1): c.1954G> T (p.Gly652Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 4, 155730112: 155730112
14 GUCY1A1 NM_000856.5(GUCY1A1): c.1954G> T (p.Gly652Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 4, 156651264: 156651264

Expression for Moyamoya Disease 6 with or Without Achalasia

Search GEO for disease gene expression data for Moyamoya Disease 6 with or Without Achalasia.

Pathways for Moyamoya Disease 6 with or Without Achalasia

GO Terms for Moyamoya Disease 6 with or Without Achalasia

Sources for Moyamoya Disease 6 with or Without Achalasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....