Disease #01626 (ACADVLD (deficiency, very long chain acyl-CoA dehydrogenase (ACADVLD)), OMIM:201475)

Official abbreviation ACADVLD
Name deficiency, very long chain acyl-CoA dehydrogenase (ACADVLD)
OMIM ID 201475
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 42
Phenotype entries for this disease 34
Associated with 1 gene ACADVL
Associated tissues -
Disease features -
Remarks autosomal recessive
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

42 entries on 1 page. Showing entries 1 - 42.
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00080847 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - ACADVLD VLCAD deficiency (OMIM:201475) ACADVL ACADVL 1 1 Daniel Trujillano
00132597 - - - - - - - - - - - ACADVLD - ACADVL - - 1 -
00132613 - - - - - - - - - - - ACADVLD - ACADVL ACADVL 1 1 Martina Witsch-Baumgartner
00181011 - - - - - - - - - - - ACADVLD - ACADVL ACADVL 2 1 Belen Perez
00181012 Pat2 PubMed: Merinero 2018 newborn screening, 2-generation family, 1 affected, unaffected heterozygous carrier parents - - - - - - - - ACADVLD see paper; ..., newborn screening, asymptomatic ACADVL ACADVL 2 1 Belen Perez
00181063 - - - - - - - - - - - ACADVLD - ACADVL ACADVL 1 1 Belen Perez
00263114 - - - F - China - - - - - ACADVLD - ACADVL ACADVL 2 1 Ting Chen
00263115 - - - F ? China - - - - - ACADVLD - ACADVL ACADVL 2 1 Ting Chen
00263116 - - - F ? China - - - - - ACADVLD - ACADVL ACADVL 2 1 Ting Chen
00263117 - - - M - China - - - - - ACADVLD - ACADVL ACADVL 2 1 Ting Chen
00263118 - - - M - China - - - - - ACADVLD - ACADVL ACADVL 2 1 Ting Chen
00265256 - - - M - Spain - - - - - ACADVLD - ACADVL ACADVL 2 1 Jorge Docampo Cordeiro
00305931 29 - - F - China - - - - - ACADVLD - ACADVL ACADVL 2 1 Sha Hong
00306126 59 - - M - China - - - - - ACADVLD - ACADVL ACADVL 2 1 Sha Hong
00402910 - - - - - - - - - - - ACADVLD - ACADVL ACADVL 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00410202 Pat1 PubMed: Merinero 2018 newborn screening, 2-generation family, 1 affected, unaffected heterozygous carrier parents - - Spain - - - - - ACADVLD see paper; ..., newborn screening, asymptomatic ACADVL ACADVL 1 1 Johan den Dunnen
00410203 Pat3 PubMed: Merinero 2018 newborn screening, 2-generation family, 1 affected, unaffected heterozygous carrier parents - - Spain - - - - - ACADVLD see paper; ..., newborn screening, metabolic decompensation, hepatopathy, myopathy, hypertrophic cardiomyopathy ACADVL ACADVL 1 1 Johan den Dunnen
00410204 Pat4 PubMed: Merinero 2018 newborn screening, 2-generation family, 1 affected, unaffected heterozygous carrier parents - - Spain - - - - - ACADVLD see paper; ..., newborn screening, asymptomatic ACADVL ACADVL 2 1 Johan den Dunnen
00410205 Pat5 PubMed: Merinero 2018 newborn screening, 2-generation family, 1 affected, unaffected heterozygous carrier parents - - Spain - - - - - ACADVLD see paper; ..., newborn screening, asymptomatic; 15d-infections; 14m-paroxysmal supraventricular tachycardia ACADVL ACADVL 2 1 Johan den Dunnen
00410206 Pat6 PubMed: Merinero 2018 newborn screening, 2-generation family, 1 affected, unaffected heterozygous carrier parents - - Spain - - - - - ACADVLD see paper; ..., newborn screening, asymptomatic ACADVL ACADVL 1 1 Johan den Dunnen
00410207 Pat7 PubMed: Merinero 2018 newborn screening, 2-generation family, 1 affected, unaffected heterozygous carrier parents - - Spain - - - - - ACADVLD see paper; ..., newborn screening, asymptomatic ACADVL ACADVL 2 1 Johan den Dunnen
00410208 Pat8 PubMed: Merinero 2018 newborn screening, 2-generation family, 1 affected, unaffected heterozygous carrier parents - - Spain - - - - - ACADVLD see paper; ..., newborn screening, asymptomatic ACADVL ACADVL 2 1 Johan den Dunnen
00410209 Pat9 PubMed: Merinero 2018 newborn screening, 2-generation family, 2 affected sibs, unaffected heterozygous carrier parents - - Spain - - - - - ACADVLD see paper; ..., newborn screening, asymptomatic ACADVL ACADVL 2 2 Johan den Dunnen
00410210 Pat10 PubMed: Merinero 2018 newborn screening, 2-generation family, 1 affected, unaffected heterozygous carrier parents - - Spain - - - - - ACADVLD see paper; ..., newborn screening, metabolic decompensation ACADVL ACADVL 3 1 Johan den Dunnen
00410211 Pat11 PubMed: Merinero 2018 newborn screening, 2-generation family, 1 affected, unaffected heterozygous carrier parents - - Spain - - - - - ACADVLD see paper; ..., newborn screening, asymptomatic, infections ACADVL ACADVL 2 1 Johan den Dunnen
00410212 Pat12 PubMed: Merinero 2018 sibling - - Spain - - - - - ACADVLD see paper; ..., newborn screening, asymptomatic ACADVL ACADVL 2 1 Johan den Dunnen
00410216 Pat13 PubMed: Merinero 2018 - - - Spain - - - - - ACADVLD see paper; ..., newborn screening, asymptomatic ACADVL ACADVL 1 1 Johan den Dunnen
00410217 Pat14 PubMed: Merinero 2018 fraternal twin (twin has no variant) - - Spain - - - - - ACADVLD see paper; ..., newborn screening, asymptomatic ACADVL ACADVL 1 1 Johan den Dunnen
00410218 Pat15 PubMed: Merinero 2018 - - - Spain - - - - - ACADVLD see paper; ..., newborn screening, asymptomatic ACADVL ACADVL 1 1 Johan den Dunnen
00410219 Pat16 PubMed: Merinero 2018 - - - Spain - - - - - ACADVLD see paper; ..., newborn screening, asymptomatic ACADVL ACADVL 1 1 Johan den Dunnen
00410220 Pat17 PubMed: Merinero 2018 - - - Spain - - - - - ACADVLD see paper; ..., newborn screening, asymptomatic ACADVL ACADVL 1 1 Johan den Dunnen
00410221 Pat18 PubMed: Merinero 2018 2-generation family, identical twins - - Spain - - - - - ACADVLD see paper; ..., newborn screening, asymptomatic ACADVL ACADVL 1 2 Johan den Dunnen
00410222 Pat19 PubMed: Merinero 2018 ywin - - Spain - - - - - ACADVLD see paper; ..., newborn screening, asymptomatic ACADVL ACADVL 1 1 Johan den Dunnen
00410223 Pat20 PubMed: Merinero 2018 - - - Spain - - - - - ACADVLD see paper; ..., newborn screening, asymptomatic ACADVL ACADVL 1 1 Johan den Dunnen
00410224 Pat21 PubMed: Merinero 2018 - - - Spain - - - - - ACADVLD see paper; ..., newborn screening, asymptomatic ACADVL ACADVL 1 1 Johan den Dunnen
00410225 Pat22 PubMed: Merinero 2018 - - - Spain - - - - - ACADVLD see paper; ..., newborn screening, asymptomatic ACADVL ACADVL 1 1 Johan den Dunnen
00410226 Pat23 PubMed: Merinero 2018 - - - Spain - - - - - ACADVLD see paper; ..., newborn screening, asymptomatic ACADVL ACADVL 1 1 Johan den Dunnen
00410227 Pat24 PubMed: Merinero 2018 - - - Spain - - - - - ACADVLD see paper; ..., newborn screening, asymptomatic ACADVL ACADVL 1 1 Johan den Dunnen
00410228 Pat25 PubMed: Merinero 2018 - - - Spain - - - - - ACADVLD see paper; ..., newborn screening, asymptomatic ACADVL ACADVL 1 1 Johan den Dunnen
00410229 Pat26 PubMed: Merinero 2018 - - - Spain - - - - - ACADVLD see paper; ..., newborn screening, asymptomatic ACADVL ACADVL 1 1 Johan den Dunnen
00410230 Pat27 PubMed: Merinero 2018 - - - Spain - - - - - ACADVLD see paper; ..., newborn screening, asymptomatic ACADVL ACADVL 1 1 Johan den Dunnen
00410231 Pat28 PubMed: Merinero 2018 - - - - - - - - - ACADVLD see paper; ..., newborn screening, asymptomatic ACADVL ACADVL 1 1 Johan den Dunnen
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