Disease #01170 (AHC1 (hemiplegia, alternating, of childhood, type 1 (AHC1)), OMIM:104290)

Official abbreviation AHC1
Name hemiplegia, alternating, of childhood, type 1 (AHC1)
OMIM ID 104290
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 25
Phenotype entries for this disease 25
Associated with 1 gene ATP1A2
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

25 entries on 1 page. Showing entries 1 - 25.
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00108558 - PubMed: Bassi 2004 4 variant carriers;A lso published by PubMed: Swoboda 2004 - - - - - - - - AHC1 - ATP1A2 ATP1A2 1 4 Boukje de Vries
00155754 A06503 - - M yes China Chinese 15y - - flunarizine + AHC1 The patient had the first hemiplegia at 3 months of age. He had abnormal eye movement, dystonia, quadrplegia and seizure. The hemiplegia duration ranges from several hours to six days. On average he has four hemiplegia per month. ATP1A3 ATP1A3 1 1 Xiaoxu Yang
00155755 A06603 - - M yes China Chinese 04y - - flunarizine + AHC1 The patient had the first symptom on set at the age of 5.5m, his first hemiplegia starts at the age of 8m, the duration rangers from 1 to 2 days, he has abnormal eye movemetn and dystonia. ATP1A3 ATP1A3 1 1 Xiaoxu Yang
00155757 A07303 - - F yes China Chinese 04y - - flunarizine + AHC1 Abnormal eye movement, quadriplegia, dystonia, ataxia, epilepsy, and developmental delay ATP1A3 ATP1A3 1 1 Xiaoxu Yang
00155758 A07403 - - M - China Chinese 03y - - flunarizine + AHC1 Abnormal eye movement, quadriplegia, respiritary disturbance, and developmental delay ATP1A3 ATP1A3 1 1 Xiaoxu Yang
00155759 A07903 - - F yes China Chinese 03y - - - AHC1 Abnormal eye movement, quadriplegia, dystonia, epilepsy, dysarthria, and developmental delay ATP1A3 ATP1A3 1 1 Xiaoxu Yang
00155760 A08003 - - M yes China Chinese 03y - - - AHC1 Abnormal eye movement, quadriplegia, dystonia, automatic dysfunction, dysphagia, dysarthria, and slight developmental delay. ATP1A3 ATP1A3 1 1 Xiaoxu Yang
00155761 A08203 - - M yes China Chinese 02y - - - AHC1 Dystonia, hemiplegia ATP1A3 ATP1A3 1 1 Xiaoxu Yang
00155762 A08503 - - F yes China Chinese 02y - - - AHC1 Abnormal eye movement, dystonia, slight developmental delay ATP1A3 ATP1A3 1 1 Xiaoxu Yang
00163007 A08603 - - F - China Chinese 02y - - - AHC1 Abnormal eye movement, dystonia, automatic dysfunction, and slight developmental delay ATP1A3 ATP1A3 1 1 Xiaoxu Yang
00163008 A08703 - - M yes China Chinese 03y - - flunarizine - AHC1 Dystonia, Abnormal eye movement, quadriplegia, automatic dysfunction, dysphagia, dysarthria, and developmental delay ATP1A3 ATP1A3 1 1 Xiaoxu Yang
00163009 A08903 - - M yes China Chinese 03y - - flunarizine - AHC1 Dystonia, Abnormal eye movement, and slight developmental delay ATP1A3 ATP1A3 1 1 Xiaoxu Yang
00163010 A09103 - - M yes China Chinese 03y - - flunarizine - AHC1 dystonia, Abnormal eye movement, automatic dysfunction, dysphagia, dysarthria, and developmental delay. ATP1A3 ATP1A3 1 1 Xiaoxu Yang
00163011 A09303 - - M yes China Chinese 05y - - - AHC1 Abnormal eye movement, Dystonia, quadriplegia, automatic dysfunction, dysphagia, dysarthria, ataxia, and developmental delay. ATP1A3 ATP1A3 1 1 Xiaoxu Yang
00163012 A09403 - - F yes China Chinese 02y - - - AHC1 Abnormal eye movement, dystonia, epilepsy, and developmental delay. ATP1A3 ATP1A3 1 1 Xiaoxu Yang
00163013 A09503 - - F yes China Chinese 01y - - - AHC1 Dystonia, Abnormal eye movement, quadriplegia, and slight developmental delay ATP1A3 ATP1A3 1 1 Xiaoxu Yang
00163014 A09603 - - F yes China Chinese 03y - - - AHC1 Dystonia, Abnormal eye movement, quadriplegia, and slight developmental delay ATP1A3 ATP1A3 1 1 Xiaoxu Yang
00163015 A09703 - - M yes China Chinese 01y - - - AHC1 Dystonia, Abnormal eye movement, automatic dysfunction, dysphagia, respiritary disturbance, and slight developmental delay ATP1A3 ATP1A3 1 1 Xiaoxu Yang
00163017 A10003 - - M yes China Chinese 03y - - flunarizine - AHC1 Dystonia, Abnormal eye movement, automatic dysfunction, dysphagia, dysarthria, and slight developmental delay ATP1A3 ATP1A3 1 1 Xiaoxu Yang
00163018 A10103 - - F yes China Chinese 01y - - - AHC1 Abnormal eye movement, quadrplegia, epilepsy, and slight developmental delay. ATP1A3 ATP1A3 1 1 Xiaoxu Yang
00163020 A10503 - - M yes China Chinese 01y - - - AHC1 Dystonia, Abnormal eye movement, respiritary disturbance, and slight developmental delay. ATP1A3 ATP1A3 1 1 Xiaoxu Yang
00163021 A10603 - - F yes China Chinese 01y - - - AHC1 Epilepsy, Abnormal eye movement, Dystonia, automatic dysfunction, and slight developmental delay. ATP1A3 ATP1A3 1 1 Xiaoxu Yang
00163022 A10703 - - F yes China Chinese 08y - - - AHC1 Abnormal eye movement, quadriplegia, Dystonia, Dysphagia, Dysarthria, and slight developmental delay. ATP1A3 ATP1A3 1 1 Xiaoxu Yang
00163023 A10803 - - M yes China Chinese 04y - - - AHC1 Dystonia, quadriplegia, and slight developmental delay. ATP1A3 ATP1A3 1 1 Xiaoxu Yang
00436162 268515 - - M no Germany - - - - - AHC1 Generalized non-motor (absence) seizure, Intellectual disability, Ataxia ATP1A2 ATP1A2 1 1 Andreas Laner
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