MYMY6
MCID: MYM015
MIFTS: 22

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 56 73
Moyamoya Disease 6 with Achalasia 29 6
Moyamoya 6 with Achalasia 56 73
Mymy6 56 73
Moyamoya Disease with Early-Onset Achalasia 58
Moyamoya, with Achalasia, Type 6 39

Characteristics:

Orphanet epidemiological data:

58
moyamoya disease with early-onset achalasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
moyamoya disease 6 with or without achalasia:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare gastroenterological diseases


Summaries for Moyamoya Disease 6 with or Without Achalasia

UniProtKB/Swiss-Prot : 73 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 : 56 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:

58 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 stroke 58 31 obligate (100%) Obligate (100%) HP:0001297
2 hypertension 58 31 occasional (7.5%) Frequent (79-30%) HP:0000822
3 moyamoya phenomenon 58 31 frequent (33%) Frequent (79-30%) HP:0011834
4 thrombocytopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001873
5 cutis marmorata 58 31 occasional (7.5%) Occasional (29-5%) HP:0000965
6 raynaud phenomenon 58 31 occasional (7.5%) Occasional (29-5%) HP:0030880
7 abnormal platelet aggregation 58 31 occasional (7.5%) Occasional (29-5%) HP:0030402
8 hemiparesis 31 occasional (7.5%) HP:0001269
9 ischemic stroke 31 occasional (7.5%) HP:0002140
10 seizure 31 occasional (7.5%) HP:0001250
11 dysphagia 31 HP:0002015
12 achalasia 31 HP:0002571
13 abnormality of the cerebral vasculature 58 Frequent (79-30%)
14 impotence 31 HP:0000802

Symptoms via clinical synopsis from OMIM:

56
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. 6 56
26777256 2016
2
Loss of α1β1 soluble guanylate cyclase, the major nitric oxide receptor, leads to moyamoya and achalasia. 56 6
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 Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GUCY1A1 NM_001130682.3(GUCY1A1):c.1258C>T (p.Arg420Ter)SNV Pathogenic 559596 rs373182378 4:156634421-156634421 4:155713269-155713269
2 GUCY1A1 NM_001130682.3(GUCY1A1):c.1550G>A (p.Cys517Tyr)SNV Pathogenic 559597 rs751701114 4:156634713-156634713 4:155713561-155713561
3 GUCY1A1 NM_001130682.3(GUCY1A1):c.332_333GA[1] (p.Glu112fs)short repeat Pathogenic 559598 rs781020381 4:156629401-156629402 4:155708249-155708250
4 GUCY1A1 NM_001130682.3(GUCY1A1):c.1954G>T (p.Gly652Ter)SNV Pathogenic 559599 rs1368733883 4:156651264-156651264 4:155730112-155730112
5 GUCY1A1 NM_001130682.3(GUCY1A1):c.1086+1G>ASNV Pathogenic 127094 rs587777320 4:156632404-156632404 4:155711252-155711252
6 GUCY1A1 NM_001130682.3(GUCY1A1):c.1045C>T (p.Arg349Ter)SNV Pathogenic 127095 rs587777321 4:156632362-156632362 4:155711210-155711210
7 GUCY1A1 NM_001130682.3(GUCY1A1):c.1170del (p.Glu391fs)deletion Pathogenic 127096 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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