MYMY6
MCID: MYM015
MIFTS: 19

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 58 76
Moyamoya Disease 6 with Achalasia 30 6
Moyamoya 6 with Achalasia 58 76
Mymy6 58 76
Moyamoya Disease with Early-Onset Achalasia 60
Moyamoya, with Achalasia, Type 6 41

Characteristics:

Orphanet epidemiological data:

60
moyamoya disease with early-onset achalasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
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 : 76 Moyamoya disease 6 with or without 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 stroke and hypertension

OMIM : 58 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

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

60 33 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 stroke 60 33 obligate (100%) Obligate (100%) HP:0001297
2 hypertension 60 33 occasional (7.5%) Frequent (79-30%) HP:0000822
3 moyamoya phenomenon 60 33 frequent (33%) Frequent (79-30%) HP:0011834
4 thrombocytopenia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001873
5 cutis marmorata 60 33 occasional (7.5%) Occasional (29-5%) HP:0000965
6 raynaud phenomenon 60 33 occasional (7.5%) Occasional (29-5%) HP:0030880
7 abnormal platelet aggregation 60 33 occasional (7.5%) Occasional (29-5%) HP:0030402
8 seizures 33 occasional (7.5%) HP:0001250
9 hemiparesis 33 occasional (7.5%) HP:0001269
10 ischemic stroke 33 occasional (7.5%) HP:0002140
11 dysphagia 33 HP:0002015
12 achalasia 33 HP:0002571
13 abnormality of the cerebral vasculature 60 Frequent (79-30%)
14 impotence 33 HP:0000802

Symptoms via clinical synopsis from OMIM:

58
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

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 30 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 rs781020381 GRCh37 Chromosome 4, 156629404: 156629405
12 GUCY1A1 NM_000856.5(GUCY1A1): c.334_335delGA (p.Glu112Argfs) deletion Pathogenic rs781020381 GRCh38 Chromosome 4, 155708252: 155708253
13 GUCY1A1 NM_000856.5(GUCY1A1): c.1954G> T (p.Gly652Ter) single nucleotide variant Pathogenic rs1368733883 GRCh38 Chromosome 4, 155730112: 155730112
14 GUCY1A1 NM_000856.5(GUCY1A1): c.1954G> T (p.Gly652Ter) single nucleotide variant Pathogenic rs1368733883 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

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75 UMLS via Orphanet
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