MYMY6
MCID: MYM015
MIFTS: 21

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 74
Moyamoya Disease 6 with Achalasia 29 6
Moyamoya 6 with Achalasia 57 74
Mymy6 57 74
Moyamoya Disease with Early-Onset Achalasia 59
Moyamoya, with Achalasia, Type 6 40

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:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:



External Ids:

MeSH 44 D009072
ICD10 via Orphanet 34 I67.5
Orphanet 59 ORPHA401945
MedGen 42 C3810403

Summaries for Moyamoya Disease 6 with or Without Achalasia

UniProtKB/Swiss-Prot : 74 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 : 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

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

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

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

Articles related to Moyamoya Disease 6 with or Without Achalasia:

# Title Authors PMID Year
1
Disrupted nitric oxide signaling due to GUCY1A3 mutations increases risk for moyamoya disease, achalasia and hypertension. 8 71
26777256 2016
2
Loss of α1β1 soluble guanylate cyclase, the major nitric oxide receptor, leads to moyamoya and achalasia. 8 71
24581742 2014

Variations for Moyamoya Disease 6 with or Without Achalasia

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 GUCY1A1 NM_000856.6(GUCY1A1): c.1258C> T (p.Arg420Ter) single nucleotide variant Pathogenic rs373182378 4:156634421-156634421 4:155713269-155713269
2 GUCY1A1 NM_000856.6(GUCY1A1): c.1550G> A (p.Cys517Tyr) single nucleotide variant Pathogenic rs751701114 4:156634713-156634713 4:155713561-155713561
3 GUCY1A1 NM_000856.6(GUCY1A1): c.332_333GA[1] (p.Glu112fs) short repeat Pathogenic rs781020381 4:156629404-156629405 4:155708252-155708253
4 GUCY1A1 NM_000856.6(GUCY1A1): c.1954G> T (p.Gly652Ter) single nucleotide variant Pathogenic rs1368733883 4:156651264-156651264 4:155730112-155730112
5 GUCY1A1 NM_000856.6(GUCY1A1): c.1086+1G> A single nucleotide variant Pathogenic rs587777320 4:156632404-156632404 4:155711252-155711252
6 GUCY1A1 NM_000856.6(GUCY1A1): c.1045C> T (p.Arg349Ter) single nucleotide variant Pathogenic rs587777321 4:156632362-156632362 4:155711210-155711210
7 GUCY1A1 NM_000856.6(GUCY1A1): c.1170del (p.Glu391fs) deletion Pathogenic rs587777322 4:156634333-156634333 4:155713181-155713181

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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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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