Disease #00172 (SBCADD (2-methylbutyryl-CoA dehydrogenase deficiency (SBCADD)), OMIM:610006)

Official abbreviation SBCADD
Name 2-methylbutyryl-CoA dehydrogenase deficiency (SBCADD)
OMIM ID 610006
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 24
Phenotype entries for this disease 24
Associated with 1 gene ACADSB
Associated tissues -
Disease features -
Remarks -
Date created 2013-08-01 11:13:51 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

24 entries on 1 page. Showing entries 1 - 24.
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00001743 - PubMed: Matern 2003 Patient 1 in Matern et al. (2003) ? ? - Asian, Hmong - - - - SBCADD newborn screening ACADSB ACADSB 1 1 Division of Human Genetics, Innsbruck
00001744 - PubMed: Madsen 2006 sister of Patient 2 in Madsen 2006, e.g. sister of patient in Gibson 2000 F ? - white/Eritrean, Euorpe, North - - - - SBCADD family analysis; no clinical symptoms ACADSB ACADSB 2 1 Division of Human Genetics, Innsbruck
00001745 - PubMed: Andresen 2000 - M ? Pakistan - - - - - SBCADD clinical presentation ACADSB ACADSB 2 1 Division of Human Genetics, Innsbruck
00001746 - PubMed: Sass 2008 sister of Patient 3 in Sass (2008) F ? Turkey white - - - - SBCADD newborn screening ACADSB ACADSB 2 1 Division of Human Genetics, Innsbruck
00001747 - PubMed: Sass 2008 brother of patient 2 in Sass (2008) M ? Turkey - - - - - SBCADD family analysis ACADSB ACADSB 2 1 Division of Human Genetics, Innsbruck
00001748 - PubMed: Sass 2008 - F ? Turkey - - - - - SBCADD newborn screening ACADSB ACADSB 2 1 Division of Human Genetics, Innsbruck
00001749 - PubMed: Sass 2008 brother of patient 6 in Sass (2008) M ? Lebanon Arabic - - - - SBCADD newborn screening ACADSB ACADSB 2 1 Division of Human Genetics, Innsbruck
00001750 - PubMed: Sass 2008 brother of patient 5 in Sass (2008) M ? Lebanon Arabic - - - - SBCADD family analysis ACADSB ACADSB 2 1 Division of Human Genetics, Innsbruck
00001751 - PubMed: Korman 2005 - ? ? - - - - - - SBCADD newborn screening ACADSB ACADSB 2 1 Division of Human Genetics, Innsbruck
00001752 - PubMed: Korman 2005 - ? ? - - - - - - SBCADD unknown ACADSB ACADSB 2 1 Division of Human Genetics, Innsbruck
00001753 - PubMed: Korman 2005 - ? ? - - - - - - SBCADD unknown ACADSB ACADSB 2 1 Division of Human Genetics, Innsbruck
00001754 - PubMed: Korman 2005 - ? ? - - - - - - SBCADD unknown ACADSB ACADSB 2 1 Division of Human Genetics, Innsbruck
00001755 - PubMed: Alfardan 2010 - ? ? India - - - - - SBCADD newborn screening; no clinical symptoms ACADSB ACADSB 2 1 Division of Human Genetics, Innsbruck
00001756 - PubMed: Alfardan 2010 - ? ? - - - - - - SBCADD newborn screening; no clinical symptoms ACADSB ACADSB 2 1 Division of Human Genetics, Innsbruck
00001757 - PubMed: Alfardan 2010 - ? ? - - - - - - SBCADD newborn screening; no clinical symptoms ACADSB ACADSB 1 1 Division of Human Genetics, Innsbruck
00001758 - PubMed: Alfardan 2010 - F ? - European - - - - SBCADD clinical presentation; developmental delay, simplified brain sulci pattern, microcephaly ACADSB ACADSB 2 1 Division of Human Genetics, Innsbruck
00001759 - Submitted by J. Zschocke - F ? - - - - - - SBCADD newborn screening ACADSB ACADSB 2 1 Division of Human Genetics, Innsbruck
00001760 - PubMed: Kanavin 2007 Patient described in Kanavin et al. (2007) M ? Somalia African - - - - SBCADD clinical presentation; seizures (which stopped), speech development was significantly delayed, mental retardation ACADSB ACADSB 2 1 Division of Human Genetics, Innsbruck
00001761 - PubMed: Madsen 2006 Patient 1 in Madsen et al. (2006) M ? Somalia African - - - - SBCADD clinical presentation; seizures (which stopped from 10 months onwards), develompmental delay, hypotonia ACADSB ACADSB 2 1 Division of Human Genetics, Innsbruck
00001762 - PubMed: Gibson 2000, PubMed: Madsen 2006 Patient described in Gibson et al. (2000) and Madsen et al. (2006) (Pat 2) M ? - white/Eritrean - - - - SBCADD clinical presentation; developmental delay, epilepsy ACADSB ACADSB 2 1 Division of Human Genetics, Innsbruck
00001763 - PubMed: Matern 2003 Patient 2 in Matern et al. (2003) ? ? - Asian, Hmong - - - - SBCADD newborn screening ACADSB ACADSB 1 1 Division of Human Genetics, Innsbruck
00001764 - PubMed: Matern 2003 Patient 3 in Matern et al. (2003) ? ? - Asian, Hmong - - - - SBCADD newborn screening ACADSB ACADSB 1 1 Division of Human Genetics, Innsbruck
00001765 - PubMed: Andresen 2000 mother of patient in Andresen et al. (2000) F ? - - - - - - SBCADD family analysis; no clinical symptoms ACADSB ACADSB 2 1 Division of Human Genetics, Innsbruck
00181054 - - - - - - - - - - - SBCADD - ACADSB ACADSB 2 1 Belen Perez
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