Disease #02812 (LCHADD (LCHAD deficiency), OMIM:609016)

Official abbreviation LCHADD
Name LCHAD deficiency
OMIM ID 609016
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 29
Phenotype entries for this disease 29
Associated with 1 gene HADHA
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2024-11-12 15:41:19 +01:00 (CET)


Individuals

29 entries on 1 page. Showing entries 1 - 29.
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00181030 - - - - - - - - - - - LCHADD - HADHA HADHA 2 1 Belen Perez
00457675 Pat1 PubMed: De Biase 2017 - M - United States - - - - - LCHADD see paper; ..., lethargy; muscle pain; depression; cardiac episode with ventricular tachycardia; retinitis pigmentosa; mother pregnancy HELLP syndrome; sister died (9m) HADHA HADHA 1 1 Johan den Dunnen
00457676 Pat2 PubMed: De Biase 2017 - F - United States - - - - - LCHADD see paper; ..., hypoglycemia; exercise-induced muscle pain; multiple hospitalizations (hypoglycemia); retinitis pigmentosa; pregnancy unremarkable HADHA HADHA 1 1 Johan den Dunnen
00457677 Pat3 PubMed: De Biase 2017 - M - United States - - - - - LCHADD see paper; ..., newborn screening; exercise-induced muscle pain; retinitis pigmentosa; mother pregnancy HELLP syndrome HADHA HADHA 1 1 Johan den Dunnen
00457678 Pat4 PubMed: De Biase 2017 - F - United States - - - - - LCHADD see paper; ..., newborn screening: hypoglycemia; failure to thrive; muscle pain; retinitis pigmentosa; mother pregnancy preeclampsia HADHA HADHA 1 1 Johan den Dunnen
00457684 Pat1 PubMed: Ibdah 1999 - - - United States - - - - - LCHADD see paper; ..., hepatic, mother acute fatty liver of pregnancy HADHA HADHA 1 1 Johan den Dunnen
00457685 Pat2 PubMed: Ibdah 1999 - - - United States - - - - - LCHADD see paper; ..., hepatic, mother acute fatty liver of pregnancy HADHA HADHA 1 1 Johan den Dunnen
00457686 Pat3 PubMed: Ibdah 1999 - - - United States - - - - - LCHADD see paper; ..., hepatic, mother acute fatty liver of pregnancy HADHA HADHA 1 1 Johan den Dunnen
00457687 Pat4 PubMed: Ibdah 1999 - - - United States - - - - - LCHADD see paper; ..., hepatic, mother pregnancy HELLP syndrome HADHA HADHA 1 1 Johan den Dunnen
00457688 Pat5 PubMed: Ibdah 1999 - - - United States - - - - - LCHADD see paper; ..., hepatic/cardiac dysfunction, mother pregnancy HELLP syndrome HADHA HADHA 1 1 Johan den Dunnen
00457689 Pat6 PubMed: Ibdah 1999 - - - United States - - - - - LCHADD see paper; ..., hepatic, mother acute fatty liver of pregnancy HADHA HADHA 1 1 Johan den Dunnen
00457690 Pat7 PubMed: Ibdah 1999 - - - United States - - - - - LCHADD see paper; ..., hepatic, mother acute fatty liver of pregnancy HADHA HADHA 1 1 Johan den Dunnen
00457691 Pat8 PubMed: Ibdah 1999 - - - United States - - - - - LCHADD see paper; ..., hepatic HADHA HADHA 1 1 Johan den Dunnen
00457692 Pat9;Pat(4/8) PubMed: Ibdah 1999, PubMed: Gillingham 2005 - F - United States - - - - - LCHADD see paper; ..., hepatic/cardiac dysfunction, mother acute fatty liver of pregnancy HADHA HADHA 2 1 Johan den Dunnen
00457693 Pat10;Pat(4/8) PubMed: Ibdah 1999, PubMed: Gillingham 2005 - F - United States - - - - - LCHADD see paper; ..., hepatic, mother acute fatty liver of pregnancy HADHA HADHA 2 1 Johan den Dunnen
00457694 Pat11 PubMed: Ibdah 1999 - - - United States - - - - - LCHADD see paper; ..., hepatic, mild cardiomyopathy, mother acute fatty liver of pregnancy HADHA HADHA 2 1 Johan den Dunnen
00457695 Pat12 PubMed: Ibdah 1999 - - - United States - - - - - LCHADD see paper; ..., hepatic, mother acute fatty liver of pregnancy HADHA HADHA 2 1 Johan den Dunnen
00457696 Pat13 PubMed: Ibdah 1999 - - - United States - - - - - LCHADD see paper; ..., hepatic, peripheral neuropathy, myopathy HADHA HADHA 2 1 Johan den Dunnen
00457697 Pat14:Pat13 PubMed: Ibdah 1999, PubMed: Gillingham 2005 - - - United States - - - - - LCHADD see paper; ..., hepatic, mother pregnancy HELLP syndrome HADHA HADHA 2 1 Johan den Dunnen
00457698 Pat15 PubMed: Ibdah 1999 - - - United States - - - - - LCHADD see paper; ..., hepatic HADHA HADHA 2 1 Johan den Dunnen
00457699 Pat16;Pat12 PubMed: Ibdah 1999, PubMed: Gillingham 2005 - F - United States - - - - - LCHADD see paper; ..., hepatic, mother acute fatty liver of pregnancy HADHA HADHA 2 1 Johan den Dunnen
00457700 Pat17 PubMed: Ibdah 1999 - - - United States - - - - - LCHADD see paper; ..., hepatic, mother acute fatty liver of pregnancy HADHA HADHA 2 1 Johan den Dunnen
00457701 Pat18 PubMed: Ibdah 1999 - - - United States - - - - - LCHADD see paper; ..., hepatic HADHA HADHA 2 1 Johan den Dunnen
00457702 Pat19 PubMed: Ibdah 1999 - - - United States - - - - - LCHADD see paper; ..., hepatic, mother acute fatty liver of pregnancy HADHA HADHA 1 1 Johan den Dunnen
00457703 Pat20 PubMed: Ibdah 1999 - - - United States - - - - - LCHADD see paper; ..., cardiac HADHA HADHA 2 1 Johan den Dunnen
00457704 Pat21 PubMed: Ibdah 1999 - - - United States - - - - - LCHADD see paper; ..., cardiac HADHA HADHA 1 1 Johan den Dunnen
00457705 Pat22 PubMed: Ibdah 1999 - - - United States - - - - - LCHADD see paper; ..., cardiac HADHA HADHA 2 1 Johan den Dunnen
00457706 Pat23 PubMed: Ibdah 1999 - - - United States - - - - - LCHADD see paper; ..., neuromuscular HADHA HADHA 1 1 Johan den Dunnen
00457707 Pat24 PubMed: Ibdah 1999 - - - United States - - - - - LCHADD see paper; ..., neuromuscular HADHA HADHA 1 1 Johan den Dunnen
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