Disease #00171 (IBDD (isobutyryl-CoA dehydrogenase deficiency (IBDD)), OMIM:611283)

Official abbreviation IBDD
Name isobutyryl-CoA dehydrogenase deficiency (IBDD)
OMIM ID 611283
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 29
Phenotype entries for this disease 25
Associated with 1 gene ACAD8
Associated tissues -
Disease features -
Remarks -
Date created 2013-08-01 11:10:51 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

29 entries on 1 page. Showing entries 1 - 29.
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00001719 - Submitted by database curator - F ? Germany white - - - - IBDD no clinical phenotype at age of diagnosis ACAD8 ACAD8 2 1 Division of Human Genetics, Innsbruck
00001720 - Submitted by database curator - F ? - - - - - - IBDD ascertainment unknown ACAD8 ACAD8 2 1 Division of Human Genetics, Innsbruck
00001721 - PubMed: Sass 2004 - F ? Germany white - - - - IBDD ascertainment clinical presentation ACAD8 ACAD8 2 1 Division of Human Genetics, Innsbruck
00001722 - PubMed: Sass 2004 - M ? Turkey white - - - - IBDD ascertainment clinical presentation ACAD8 ACAD8 2 1 Division of Human Genetics, Innsbruck
00001723 - Submitted by J. Zschocke - ? ? - - - - - - IBDD ascertainment clinical presentation ACAD8 ACAD8 2 1 Division of Human Genetics, Innsbruck
00001724 - PubMed: Pedersen 2006 - F ? Denmark white - - - - IBDD ascertainment newborn screening ACAD8 ACAD8 2 1 Division of Human Genetics, Innsbruck
00001725 - PubMed: Pedersen 2006 - F ? United States white - - - - IBDD ascertainment newborn screening ACAD8 ACAD8 2 1 Division of Human Genetics, Innsbruck
00001726 - PubMed: Pedersen 2006, PubMed: Koeberl 2003 - F ? United States white - - - - IBDD ascertainment newborn screening ACAD8 ACAD8 2 1 Division of Human Genetics, Innsbruck
00001727 - PubMed: Pedersen 2006 - M ? United States white - - - - IBDD ascertainment newborn screening ACAD8 ACAD8 2 1 Division of Human Genetics, Innsbruck
00001728 - PubMed: Nguyen 2002 - F ? - - - - - - IBDD ascertainment clinical presentation ACAD8 ACAD8 2 1 Division of Human Genetics, Innsbruck
00001729 - PubMed: Yoo 2007 - M ? Korea, South (Republic) Asian - - - - IBDD ascertainment newborn screening ACAD8 ACAD8 2 1 Division of Human Genetics, Innsbruck
00001730 - PubMed: Battaile 2004 "Newborn H" in Pedersen et al. (2006) ? ? - - - - - - IBDD ascertainment unknown ACAD8 ACAD8 1 1 Division of Human Genetics, Innsbruck
00001731 - PubMed: Battaile 2004 "Newborn I" in Pedersen 2006 ? ? - - - - - - IBDD ascertainment unknown ACAD8 ACAD8 1 1 Division of Human Genetics, Innsbruck
00001732 - PubMed: Oglesbee 2007 - F ? - Africa, North - - - - IBDD ascertainment newborn screening ACAD8 ACAD8 2 1 Division of Human Genetics, Innsbruck
00001733 - PubMed: Oglesbee 2007 - F ? - white, European - - - - IBDD - ACAD8 ACAD8 2 1 Division of Human Genetics, Innsbruck
00001734 - PubMed: Oglesbee 2007, ? PubMed: Pena 2012 Patient 3a in Oglesbee et al. (2007), Sibling of patient 3b in Oglesbee et al. (2007), ? Patient 6 in Pena et al. (2012)?rn M ? India East, Asian - - - - IBDD ascertainment newborn screening ACAD8 ACAD8 2 1 Division of Human Genetics, Innsbruck
00001735 - PubMed: Oglesbee 2007, ? PubMed: Pena 2012 Patient 4 in Oglesbee et al. (2007). ? Patient 5 in Pena et al. (2012)?rn F ? - white, European - - - - IBDD ascertainment newborn screening ACAD8 ACAD8 2 1 Division of Human Genetics, Innsbruck
00001736 - PubMed: Oglesbee 2007 - F ? - white, European - - - - IBDD ascertainment newborn screening ACAD8 ACAD8 2 1 Division of Human Genetics, Innsbruck
00001737 - PubMed: Oglesbee 2007 Patient 7a in Oglesbee et al. (2007) M ? - Hispanic - - - - IBDD ascertainment newborn screening ACAD8 ACAD8 2 1 Division of Human Genetics, Innsbruck
00001738 - PubMed: Oglesbee 2007 - M ? - white, European - - - - IBDD ascertainment newborn screening ACAD8 ACAD8 2 1 Division of Human Genetics, Innsbruck
00001739 - PubMed: Oglesbee 2007 - M ? - Hispanic - - - - IBDD ascertainment newborn screening ACAD8 ACAD8 2 1 Division of Human Genetics, Innsbruck
00001740 - PubMed: Oglesbee 2007 - M ? - African-American - - - - IBDD ascertainment newborn screening ACAD8 ACAD8 1 1 Division of Human Genetics, Innsbruck
00001741 - PubMed: Popek 2010 consanguineous parents, patient is additionally affected with glutaric aciduria type 1 F yes Jordan - - - - - IBDD ascertainment newborn screening; additionally affected with glutaric aciduria type 1 ACAD8 ACAD8 2 1 Division of Human Genetics, Innsbruck
00001742 - PubMed: Oglesbee 2007, ? PubMed: Pena 2012 Patient 3b in Oglesbee et al. (2007), Sibling of patient 3a in Oglesbee et al. (2007), ? Patient 7 in Pena et al. (2012)? F ? India East, Asian - - - - IBDD ascertainment newborn screening ACAD8 ACAD8 2 1 Division of Human Genetics, Innsbruck
00180960 - - unaffected heterozygous carrier parents M no Spain - 00y11m - - - IBDD - ACAD8 ACAD8 2 1 Belen Perez
00181000 - - - - - - - - - - - IBDD - ACAD8 ACAD8 2 1 Belen Perez
00181001 - - - - - - - - - - - IBDD - ACAD8 ACAD8 2 1 Belen Perez
00181008 - - - - - - - - - - - IBDD - ACAD8 ACAD8 2 1 Belen Perez
00226337 20836999 - Case report PubMed: Popek 2010 Diagnosed by newborn screening; Additional disease: Isobutyryl-CoA dehydrogenase deficieny F yes Jordan - - - - - GA1, IBDD Clinical history: Postnatally suspicion of neonatal infection; At age 07m15d: hospitalization because of pyelonephritis; At age 11m: hospitalization because of upper respiratrory tract infection; At age 12m: normal development; MRI(age 03m15d): mildly retarded myelination, relative enlargement of Sylvian fissure, subarachnoid space and cerebral ventricles ACAD8, GCDH GCDH 1 1 Isabelle Rinke
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