Moyamoya Disease 6 With Achalasia; Mymy6

Description

Moyamoya disease-6 with achalasia is an autosomal recessive disorder characterized by onset of severe achalasia in infancy or early childhood. Most patients develop ischemic strokes and show brain imaging consistent with moyamoya disease or intracranial angiopathy. More variable vascular features include hypertension and Raynaud phenomenon (summary by Herve et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of moyamoya disease, see MYMY1 (OMIM ).

Genes related to Moyamoya Disease 6 With Achalasia; Mymy6

GUCY1A1

Clinical Features

Top most frequent phenotypes and symptoms related to Moyamoya Disease 6 With Achalasia; Mymy6

Seizures
Peripheral neuropathy
Hypertension
Dysphagia
Thrombocytopenia
Retinopathy
Acrania
Stroke
Abnormal bleeding
Hemiparesis

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Incidence and onset information

— Not enough data available about incidence and published cases.

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Moyamoya Disease 6 With Achalasia; Mymy6 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Moyamoya disease 6 with achalasia (sequence analysis of GUCY1A3 gene). By CGC Genetics in Portugal. GUCY1A1 Specificity 100 % Genes 100 %
Moyamoya disease 6 with achalasia (sequence analysis of GUCY1A3 gene). By CGC Genetics in Portugal. GUCY1A1 Specificity 100 % Genes 100 %
Moyamoya type 6 with achalasia. By Centogene AG - the Rare Disease Company in Germany. GUCY1A1 Specificity 100 % Genes 100 %
Achalasia: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. FLVCR1, AIRE, ACTB, AAAS, GUCY1A1, GMPPA Specificity 17 % Genes 100 %
GUCY1A3. By Fulgent Genetics Fulgent Genetics in United States. GUCY1A1 Specificity 100 % Genes 100 %

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