Disease #01905 (MLYCDD (malonyl-CoA decarboxylase deficiency (MLYCDD)), OMIM:248360)

Official abbreviation MLYCDD
Name malonyl-CoA decarboxylase deficiency (MLYCDD)
OMIM ID 248360
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 37
Phenotype entries for this disease 35
Associated with 1 gene MLYCD
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-04-23 09:32:47 +02:00 (CEST)


Individuals

37 entries on 1 page. Showing entries 1 - 37.
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00309853 M009 PubMed: Roman 2020, Journal: Roman 2020 new-born screening - - United States - - - - - MLYCDD see paper; ... MLYCD MLYCD 1 1 Johan den Dunnen
00362697 Pat1 PubMed: MacPhee 1993, PubMed: FitzPatrick 1999 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Scotland - - - - - MLYCDD see paper; ..., delayed neurological development, seizures, no short stature, no acidosis, no hypoglycemia, no cardiomyopathy MLYCD MLYCD 1 1 Johan den Dunnen
00362698 Pat2 PubMed: MacPhee 1993, PubMed: FitzPatrick 1999 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Scotland - - - - - MLYCDD see paper; ..., delayed neurological development, seizures, no short stature, no acidosis, hypoglycemia, no cardiomyopathy MLYCD MLYCD 1 1 Johan den Dunnen
00362699 patient PubMed: Gao 1999 2-generation family, 1 affected, unaffected heterozygous carrier parents M no United States - - - - - MLYCDD see paper; ... MLYCD MLYCD 1 1 Johan den Dunnen
00362700 MA002 PubMed: Sacksteder 1999 - - no - - - - - - MLYCDD - MLYCD MLYCD 1 1 Johan den Dunnen
00362701 San1/2 PubMed: Wightman 2003 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F no Germany - - - - - MLYCDD see paper; ..., cardiomyopathy (2/2), acidosis (HACMA), hypglycaemia (HACMA) MLYCD MLYCD 2 2 Johan den Dunnen
00362702 San3 PubMed: Wightman 2003 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Turkey - - - - - MLYCDD see paper; ..., developmental delay, acidosis MLYCD MLYCD 1 1 Johan den Dunnen
00362703 Rib1 PubMed: Wightman 2003 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Spain - - - - - MLYCDD see paper; ..., developmental delay, seizures MLYCD MLYCD 1 1 Johan den Dunnen
00362704 Dou1 PubMed: Wightman 2003 - M - - - - - - - MLYCDD see paper; ..., acidosis MLYCD MLYCD 1 1 Johan den Dunnen
00362705 Haa1 PubMed: Wightman 2003 - M - Australia - - - - - MLYCDD see paper; ..., developmental delay, acidosis, hypoglycaemia MLYCD MLYCD 1 1 Johan den Dunnen
00362706 Mat1 PubMed: Matalon 1993, PubMed: Wightman 2003 - M - United States - - - - - MLYCDD see paper; ..., developmental delay, seizures, cardiomyopathy MLYCD MLYCD 1 1 Johan den Dunnen
00362707 Bro1 PubMed: Brown 1984, PubMed: Wightman 2003 - M - Australia - - - - - MLYCDD see paper; ..., developmental delay, short stature, acidosis, MLYCD MLYCD 1 1 Johan den Dunnen
00362708 Yan1 PubMed: Yano 1997, PubMed: Wightman 2003 - M - United States - - - - - MLYCDD see paper; ..., developmental delay, seizures, acidosis, hypoglycaemia, cardiomyopathy MLYCD MLYCD 1 1 Johan den Dunnen
00362709 Kra1 PubMed: Wightman 2003 - M - - - - - - - MLYCDD see paper; ... MLYCD MLYCD 1 1 Johan den Dunnen
00362710 patient PubMed: Surendran 2001 - - - United States - - - - - MLYCDD mild MLYCD MLYCD 1 1 Johan den Dunnen
00362711 patient PubMed: Malvagia 2007 - M no Italy - - - - - MLYCDD see paper; ..., 4m15-died suddenly MLYCD MLYCD 2 1 Johan den Dunnen
00362712 patient PubMed: Footitt 2010 - F yes United Kingdom (Great Britain) Asia - - - - MLYCDD see paper; ... MLYCD MLYCD 1 1 Johan den Dunnen
00362713 Pat1 PubMed: Chapel-Crespo 2019 - M - - white - - - - MLYCDD see paper; ..., respiratory distress, metabolic acidosis, hypoglycemia, hypotonia, seizures MLYCD MLYCD 1 1 Johan den Dunnen
00362714 Pat2 PubMed: Chapel-Crespo 2019 - M - Mexico - - - - - MLYCDD see paper; ..., MLYCD MLYCD 1 1 Johan den Dunnen
00362715 Pat3 PubMed: Chapel-Crespo 2019 - F - Mexico - - - - - MLYCDD see paper; ..., respiratory distress, hypotonia MLYCD MLYCD 1 1 Johan den Dunnen
00362716 Pat4 PubMed: Chapel-Crespo 2019 - M - - white - - - - MLYCDD see paper; ..., MLYCD MLYCD 2 1 Johan den Dunnen
00362717 Pat5 PubMed: Chapel-Crespo 2019 family, 2 affected M - Mexico - - - - - MLYCDD see paper; ..., respiratory distress, hypotonia, metabolic acidosis MLYCD MLYCD 1 2 Johan den Dunnen
00362718 Pat6 PubMed: Chapel-Crespo 2019 - M - United States white;native American;Mexico - - - - MLYCDD see paper; ..., hypoglycemia, metabolic acidosis MLYCD MLYCD 1 1 Johan den Dunnen
00362719 Pat7 PubMed: Chapel-Crespo 2019 - M - Nigeria - - - - - MLYCDD see paper; ..., MLYCD MLYCD 2 1 Johan den Dunnen
00362720 Pat8 PubMed: Chapel-Crespo 2019 - F yes - Middle Eastern - - - - MLYCDD see paper; ..., MLYCD MLYCD 1 1 Johan den Dunnen
00362721 Pat9 PubMed: Chapel-Crespo 2019 sib M - Mexico - - - - - MLYCDD see paper; ..., MLYCD MLYCD 1 1 Johan den Dunnen
00362722 Pat1 PubMed: Salomons 2007 - M - - - - - - - MLYCDD see paper; ..., MLYCD MLYCD 2 1 Johan den Dunnen
00362723 Pat2 PubMed: Salomons 2007 family, 2 affected M - - - - - - - MLYCDD see paper; ..., MLYCD MLYCD 1 2 Johan den Dunnen
00362724 Pat3 PubMed: Salomons 2007 sib M - - - - - - - MLYCDD see paper; ..., MLYCD MLYCD 1 1 Johan den Dunnen
00362725 Pat4 PubMed: Salomons 2007 - F yes - - - - - - MLYCDD see paper; ..., MLYCD MLYCD 1 1 Johan den Dunnen
00362726 Pat5 PubMed: Salomons 2007 - M - - - - - - - MLYCDD see paper; ..., MLYCD MLYCD 1 1 Johan den Dunnen
00362727 Pat6 PubMed: Salomons 2007 - M - - - - - - - MLYCDD see paper; ..., MLYCD MLYCD 2 1 Johan den Dunnen
00362728 Pat7 PubMed: Salomons 2007 - F yes - - - - - - MLYCDD see paper; ..., MLYCD MLYCD 1 1 Johan den Dunnen
00362729 Pat8 PubMed: Salomons 2007 - F - - - - - - - MLYCDD see paper; ..., MLYCD MLYCD 2 1 Johan den Dunnen
00362730 Pat9 PubMed: Salomons 2007 - - - - - - - - - MLYCDD see paper; ..., MLYCD MLYCD 1 1 Johan den Dunnen
00385684 Fam5 PubMed: Marrakchi 2003 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Algeria - - - - - MLYCDD see paper; ... SLURP1 SLURP1 1 1 Johan den Dunnen
00390482 - Snanoudj et al., submitted (2021) - M yes Morocco - - - - - MLYCDD - MLYCD MLYCD 1 1 Sarah Snanoudj
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