Disease #01816

Official abbreviation MADD
Name acyl-CoA dehydrogenation deficiency, multiple (MADD)
OMIM ID 231680
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 13
Phenotype entries for this disease 12
Associated with 3 genes ETFA, ETFB, ETFDH
Associated tissues -
Disease features autosomal recessive
Remarks -


Individuals

13 entries on 1 page. Showing entries 1 - 13.
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00180982 - - - M - - - - 0 - - MADD (HP:0045045) Elevated plasma acylcarnitine levels ETFDH ETFDH 2 1 Maria Belen Perez Gonzalez
00181017 - - - - - - - - 0 - - MADD - ETFB ETFB 2 1 Maria Belen Perez Gonzalez
00181065 - - - - - - - - - - - MADD - ETFDH ETFDH 1 1 Maria Belen Perez Gonzalez
00230646 Fam1 PubMed: Olsen 2016 2-generation family, affectedsister/brother, unaffected heterozygous carrier parents F;M yes - - - 0 - - MADD see paper; … FLAD1 FLAD1 1 2 Johan den Dunnen
00230647 Fam2 PubMed: Olsen 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - - - 0 - - MADD see paper; … FLAD1 FLAD1 2 1 Johan den Dunnen
00230648 Fam3 PubMed: Olsen 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - - - 0 - - MADD see paper; … FLAD1 FLAD1 2 1 Johan den Dunnen
00230649 Fam4 PubMed: Olsen 2016 2-generation family, 3 affected sibs (2F, M), unaffected heterozygous carrier parents F;M yes - - - 0 - - MADD see paper; … FLAD1 FLAD1 1 3 Johan den Dunnen
00230650 Fam5 PubMed: Olsen 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes - - - 0 - - MADD see paper; … FLAD1 FLAD1 1 1 Johan den Dunnen
00230651 Fam6 PubMed: Olsen 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - - - 0 - - MADD see paper; … FLAD1 FLAD1 3 1 Johan den Dunnen
00230652 Fam7 PubMed: Olsen 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes - - - 0 - - MADD see paper; … FLAD1 FLAD1 1 1 Johan den Dunnen
00230984 - - - - yes ? (unknown) - 2d 0 - - MADD severe form ETFDH ETFDH 1 1 Rikke Katrine Jentoft Olsen
00263297 - - - F no China Han Chinese - 0 - - MADD muscle weakness, muscular hypotonia, mild myogenic damage,myocardial damage,fatty liver ETFDH ETFDH 2 1 Guorui Hu
00265258 - - - F - Spain - - 0 - - MADD - ETFDH ETFDH 2 1 Jorge Docampo Cordeiro
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