Disease #00396 (MYMY6 (moyamoya, with achalasia, type 6 (MYMY-6)), OMIM:615750)

Official abbreviation MYMY6
Name moyamoya, with achalasia, type 6 (MYMY-6)
OMIM ID 615750
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 9
Phenotype entries for this disease 9
Associated with 1 gene GUCY1A3
Associated tissues -
Disease features -
Remarks -
Date created 2014-06-03 09:05:36 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

9 entries on 1 page. Showing entries 1 - 9.
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00016849 - PubMed: Hervé 2014 2-generation family, 2 affected borthers, unaffected heterozygous carrier parents, brother of 24581742-Fam1Pat3 M yes France unknown - - - The individual was treated efficiently by nicardipine and perindopril for hypertension from the age of 20. MYMY6 0m: Achalasia; 3y: Stroke; Moyamoya or other intracranial angiopathy, Anterior circulation involvement, Posterior circulation involvement, Hypertension, Low platelet number, Platelet-aggregation abnormal GUCY1A3 GUCY1A3 1 2 Marianne Vos (LOVD-team)
00016850 - PubMed: Hervé 2014 brother of 24581742-Fam1Pat1 M yes France unknown - - - - MYMY6 0m: Achalasia; (Mallignant)Hypertension, Raynaud phenomenon, Abnormal Platelet-aggregation, erectile dysfunction since adolescence GUCY1A3 GUCY1A3 1 1 Marianne Vos (LOVD-team)
00016851 - PubMed: Hervé 2014 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents, sister of 24581742-Fam2Pat2 F yes France unknown - - - - MYMY6 4m: Achalasia; Hypertension GUCY1A3 GUCY1A3 1 2 Marianne Vos (LOVD-team)
00016852 - PubMed: Hervé 2014 sister of 24581742-Fam2Pat1 F yes France unknown - - - gastrostomy nutrition MYMY6 0d:regurgitation episodes; 7m: several episodes of right hemiparesis followed by generalized seizure, severe left hemiplegia, 2 large inffarcts, severe stenosis of both ICA bifurcations associated with moyamoya vessels on the left side; 11m: Achalasia; 3y: intense episode of microvascular dysfunction with cyanosis. These symptoms resolved spontaneously in a few hours; 4,5y:she remained severely disabled. She was able to pronounce only few words and to stay seated only for a few seconds.; 5y: stage 1 hypertension. Moyamoya or other intracranial angiopathy, Anterior circulation involvement, Posterior circulation involvement, Raynaud phenomenon, Livedo reticularis GUCY1A3 GUCY1A3 1 1 Marianne Vos (LOVD-team)
00016853 - PubMed: Hervé 2014 2-generation family, 5 affected sibs (F, 4M), unaffected heterozygous carrier parents/sibs, brother of 24581742-Fam3PatIV9 M yes Algeria Algerian - - - Heller myotomy MYMY6 2y:right hemiparesis associated with aphasia; 6y:contralateral hemiparesis; 1y3m: Achalasia; Moyamoya or other intracranial angiopathy, Anterior circulation involvement GUCY1A3 GUCY1A3 1 5 Marianne Vos (LOVD-team)
00016854 - PubMed: Hervé 2014 brother of 24581742-Fam3PatIV8 M yes Algeria Algerian - - - - MYMY6 2m: operated for achalasia; 4y7m:two episodes of transient right hemiparesis (left MCA infarct and an unusual intracranial angiopathy characterized by long arterial stenosis of the left MCA and ACA) GUCY1A3 GUCY1A3 1 1 Marianne Vos (LOVD-team)
00016855 - PubMed: Hervé 2014 brother of 24581742-Fam3PatIV8 M yes Algeria Algerian - - - - MYMY6 Achalasia; No extra digestive investigation was realized in F3 IV-2, F3 IV-4, or F3 IV-5 in the absence of neurological symptoms. GUCY1A3 GUCY1A3 1 1 Marianne Vos (LOVD-team)
00016856 - PubMed: Hervé 2014 brother of 24581742-Fam3PatIV8 M yes Algeria Algerian - - - - MYMY6 Achalasia; No extra digestive investigation was realized in F3 IV-2, F3 IV-4, or F3 IV-5 in the absence of neurological symptoms. GUCY1A3 GUCY1A3 1 1 Marianne Vos (LOVD-team)
00016857 - PubMed: Hervé 2014 sister of 24581742-Fam3PatIV8 F yes Algeria Algerian ? - - Heller myotomy MYMY6 Achalasia; No extra digestive investigation was realized in F3 IV-2, F3 IV-4, or F3 IV-5 in the absence of neurological symptoms. GUCY1A3 GUCY1A3 1 1 Marianne Vos (LOVD-team)
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