Disease #02571 (acidemia, propionic, OMIM:606054)

Official abbreviation -
Name acidemia, propionic
OMIM ID 606054
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 211
Phenotype entries for this disease 211
Associated with 2 genes PCCA, PCCB
Associated tissues -
Disease features -
Remarks -


Individuals

211 entries on 3 pages. Showing entries 1 - 100.
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00081009 - Trujillano et al., submitted unaffected parents - - - - - 0 - - acidemia, propionic Propionicacidemia (OMIM:606054) PCCA PCCA 1 1 Daniel Trujillano
00104054 p1 PubMed: Desviat 2009 - - - - - - 0 - - acidemia, propionic - PCCA PCCA 2 1 Lourdes R. Desviat
00104055 p2 PubMed: Desviat 2009 - - - - - - 0 - - acidemia, propionic - PCCA PCCA 2 1 Lourdes R. Desviat
00104056 p3 PubMed: Desviat 2009 - - - - - - 0 - - acidemia, propionic - PCCA PCCA 2 1 Lourdes R. Desviat
00104057 09385377-MSO PubMed: Richard 1997, PubMed: Clavero 2004 - - - - - >18y 0 - - acidemia, propionic late-onset, relatively mild; favorable response to restriction dietary protein, psychomotor development adequate PCCA PCCA 1 1 Johan den Dunnen
00104058 09385377-SAG PubMed: Richard 1997 - - - - - - 0 - - acidemia, propionic late-onset; favorable response to restriction dietary protein, psychomotor development adequate PCCA PCCA 1 1 Johan den Dunnen
00104059 09385377-JJLF PubMed: Richard 1997 - - - - - - 0 - - acidemia, propionic severe, neonatal, died soon after diagnosis PCCA PCCA 1 1 Johan den Dunnen
00104060 19157943-? PubMed: Desviat 2009 - - - Australia - - 0 - - acidemia, propionic - PCCA PCCA 1 1 Johan den Dunnen
00104061 19157943-? PubMed: Desviat 2009 - - - Germany - - 0 - - acidemia, propionic - PCCA PCCA 1 1 Johan den Dunnen
00104062 19157943-? PubMed: Desviat 2009 - - - - - - 0 - - acidemia, propionic - PCCA PCCA 1 5 Johan den Dunnen
00104063 19157943-? PubMed: Desviat 2009 - - - - - - 0 - - acidemia, propionic - PCCA PCCA 1 3 Johan den Dunnen
00104064 19157943-? PubMed: Desviat 2009 - - - - Arab - 0 - - acidemia, propionic - PCCA PCCA 1 4 Johan den Dunnen
00104065 19157943-? PubMed: Desviat 2009 - - - - Arab - 0 - - acidemia, propionic - PCCA PCCA 1 1 Johan den Dunnen
00104066 19157943-? PubMed: Desviat 2009 - - - Malaysia - - 0 - - acidemia, propionic - PCCA PCCA 1 1 Johan den Dunnen
00104067 19157943-? PubMed: Desviat 2009 - - - Italy - - 0 - - acidemia, propionic - PCCA PCCA 1 1 Johan den Dunnen
00104068 19157943-? PubMed: Desviat 2009 - - - Spain - - 0 - - acidemia, propionic - PCCA PCCA 1 1 Johan den Dunnen
00104069 19157943-? PubMed: Desviat 2009 - - - Germany - - 0 - - acidemia, propionic - PCCA PCCA 1 1 Johan den Dunnen
00104070 19157943-? PubMed: Desviat 2009 - - - United States - - 0 - - acidemia, propionic - PCCA PCCA 1 1 Johan den Dunnen
00104071 19157943-? PubMed: Desviat 2009 - - - Lebanon - - 0 - - acidemia, propionic - PCCA PCCA 1 1 Johan den Dunnen
00104078 p1 - - - - - - - 0 - - acidemia, propionic - PCCB PCCB 2 1 Lourdes R. Desviat
00104079 ? - - - - - - - 0 - - acidemia, propionic - PCCB PCCB 1 1 Lourdes R. Desviat
00104080 p3 - - - - - - - 0 - - acidemia, propionic - PCCB PCCB 1 1 Lourdes R. Desviat
00104081 02249848-539 PubMed: Lamhonwah 1990 - - - - - - 0 - - acidemia, propionic cell line no PCC activity PCCB PCCB 2 1 Johan den Dunnen
00104082 02249848-453CE PubMed: Lamhonwah 1990 - - - - Caucasian - 0 - - acidemia, propionic cell line no PCC activity PCCB PCCB 1 1 Johan den Dunnen
00104083 02249848-500LS PubMed: Lamhonwah 1990 - - - - Caucasian - 0 - - acidemia, propionic cell line no PCC activity PCCB PCCB 1 1 Johan den Dunnen
00104084 02249848-3088JL PubMed: Lamhonwah 1990 - - - - Caucasian - 0 - - acidemia, propionic cell line no PCC activity PCCB PCCB 1 1 Johan den Dunnen
00104085 02154743-pccBC519 PubMed: Tahara 1990 - - - (United States) Caucasian - 0 - - acidemia, propionic - PCCB PCCB 1 1 Johan den Dunnen
00104086 02154743-pccBC534 PubMed: Tahara 1990 - - - (United States) Caucasian - 0 - - acidemia, propionic - PCCB PCCB 1 1 Johan den Dunnen
00104087 02154743-pccBC1747 PubMed: Tahara 1990 - - - (United States) Caucasian - 0 - - acidemia, propionic - PCCB PCCB 1 1 Johan den Dunnen
00104088 02154743-pccC467 PubMed: Tahara 1990 - - - (United States) Caucasian - 0 - - acidemia, propionic - PCCB PCCB 2 1 Johan den Dunnen
00104089 02154743-pccC543 PubMed: Tahara 1990 - - - (United States) Caucasian - 0 - - acidemia, propionic - PCCB PCCB 1 1 Johan den Dunnen
00104090 02154743-pccC572 PubMed: Tahara 1990 sib of 02154743-pccC576 - - (United States) Caucasian - 0 - - acidemia, propionic - PCCB PCCB 2 1 Johan den Dunnen
00104091 02154743-pccC756 PubMed: Tahara 1990 sib of 02154743-pccC572 - - (United States) Caucasian - 0 - - acidemia, propionic - PCCB PCCB 2 1 Johan den Dunnen
00104092 02154743-pccC1752 PubMed: Tahara 1990 - - - (United States) Caucasian - 0 - - acidemia, propionic - PCCB PCCB 2 1 Johan den Dunnen
00104093 08411997-J113 PubMed: Tahara 1993 - - - Japan - - 0 - - acidemia, propionic - PCCB PCCB 2 2 Johan den Dunnen
00104094 08411997-J146 PubMed: Tahara 1993 sib of 08411997-J171 - - Japan - - 0 - - acidemia, propionic - PCCB PCCB 2 1 Johan den Dunnen
00104095 08411997-J171 PubMed: Tahara 1993 sib of 08411997-J146 - - Japan - - 0 - - acidemia, propionic - PCCB PCCB 2 1 Johan den Dunnen
00104096 08225321-338 PubMed: Ohura 1993, PubMed: Ohura 1993 - - - Japan - - 0 - - acidemia, propionic - PCCB PCCB 2 1 Johan den Dunnen
00104097 08295402-83 PubMed: Ohura 1993 - - - Japan - - 0 - - acidemia, propionic - PCCB PCCB 2 1 Johan den Dunnen
00104098 08295402-212 PubMed: Ohura 1993 - - - Japan - - 0 - - acidemia, propionic - PCCB PCCB 2 1 Johan den Dunnen
00104099 08295402-276 PubMed: Ohura 1993 - - - Japan - - 0 - - acidemia, propionic - PCCB PCCB 2 1 Johan den Dunnen
00104100 08295402-187 PubMed: Ohura 1993 - - - Japan - - 0 - - acidemia, propionic - PCCB PCCB 2 1 Johan den Dunnen
00104101 08411997-2267 PubMed: Tahara 1993 - - - - Caucasian;Hispanic - 0 - - acidemia, propionic - PCCB PCCB 2 1 Johan den Dunnen
00104102 08411997-3007 PubMed: Tahara 1993 - - - - Caucasian - 0 - - acidemia, propionic - PCCB PCCB 1 1 Johan den Dunnen
00104103 07789958-Pat187 PubMed: Ohura 1995 - - - Japan - - 0 - - acidemia, propionic - PCCB PCCB 2 1 Johan den Dunnen
00104104 08023851-535 PubMed: Gravel 1994 - - - United States Amish - 0 - - acidemia, propionic - PCCB PCCB 2 1 Johan den Dunnen
00104105 08023851-445 PubMed: Gravel 1994 - - - United States - - 0 - - acidemia, propionic - PCCB PCCB 2 1 Johan den Dunnen
00104106 08023851-500 PubMed: Gravel 1994 - - - United States - - 0 - - acidemia, propionic - PCCB PCCB 2 1 Johan den Dunnen
00104107 08023851-3138 PubMed: Gravel 1994 - - - United States - - 0 - - acidemia, propionic - PCCB PCCB 2 1 Johan den Dunnen
00104108 08023851-8913 PubMed: Gravel 1994 - - - United States - - 0 - - acidemia, propionic - PCCB PCCB 2 1 Johan den Dunnen
00104109 08023851-539 PubMed: Gravel 1994 - - - United States - - 0 - - acidemia, propionic - PCCB PCCB 2 1 Johan den Dunnen
00104110 09452096-APJ PubMed: Hoenicka 1998 - - - Spain - - 0 - - acidemia, propionic - PCCB PCCB 2 1 Johan den Dunnen
00104111 09452096-SSL PubMed: Hoenicka 1998 - - - Spain - - 0 - - acidemia, propionic - PCCB PCCB 2 1 Johan den Dunnen
00104112 09452096-pats PubMed: Hoenicka 1998 - - - Spain - - 0 - - acidemia, propionic - PCCB PCCB 1 1 Johan den Dunnen
00104113 09683601-ALT PubMed: Rodriguez-Pombo 1998 - - - Spain - - 0 - - acidemia, propionic - PCCB PCCB 2 1 Johan den Dunnen
00104114 09683601-CBV PubMed: Rodriguez-Pombo 1998 - - - Spain - - 0 - - acidemia, propionic - PCCB PCCB 2 1 Johan den Dunnen
00104115 09683601-MRA PubMed: Rodriguez-Pombo 1998 - - - Spain - - 0 - - acidemia, propionic - PCCB PCCB 2 1 Johan den Dunnen
00104116 09683601-LMC PubMed: Rodriguez-Pombo 1998 - - - Chile - - 0 - - acidemia, propionic - PCCB PCCB 2 1 Johan den Dunnen
00104117 09683601-DTV PubMed: Rodriguez-Pombo 1998 - - - Chile - - 0 - - acidemia, propionic - PCCB PCCB 2 1 Johan den Dunnen
00104118 09683601-SSL PubMed: Rodriguez-Pombo 1998 - - - Spain - - 0 - - acidemia, propionic - PCCB PCCB 2 1 Johan den Dunnen
00104119 09683601-APJ PubMed: Rodriguez-Pombo 1998 - - - Spain - - 0 - - acidemia, propionic - PCCB PCCB 2 1 Johan den Dunnen
00104120 09683601-PRG PubMed: Rodriguez-Pombo 1998 - - - Spain - - 0 - - acidemia, propionic - PCCB PCCB 2 1 Johan den Dunnen
00104121 09683601-NGA PubMed: Rodriguez-Pombo 1998 - - - Chile - - 0 - - acidemia, propionic - PCCB PCCB 2 1 Johan den Dunnen
00104122 09683601-SVL PubMed: Rodriguez-Pombo 1998 - - - Spain - - 0 - - acidemia, propionic - PCCB PCCB 2 1 Johan den Dunnen
00104123 09683601-CTG PubMed: Muro 2001, PubMed: Perez 2003 - - - Spain - - 0 - - acidemia, propionic - PCCB PCCB 4 1 Johan den Dunnen
00104124 09683601-LGA PubMed: Rodriguez-Pombo 1998 - - - Spain - - 0 - - acidemia, propionic - PCCB PCCB 2 1 Johan den Dunnen
00104125 09683601-JGG PubMed: Rodriguez-Pombo 1998 - - - Spain - - 0 - - acidemia, propionic - PCCB PCCB 2 1 Johan den Dunnen
00104126 09683601-FM PubMed: Rodriguez-Pombo 1998 - - - Chile - - 0 - - acidemia, propionic - PCCB PCCB 2 1 Johan den Dunnen
00104127 09683601-VMP PubMed: Rodriguez-Pombo 1998 - - - Spain - - 0 - - acidemia, propionic - PCCB PCCB 3 1 Johan den Dunnen
00104128 09683601-AJA PubMed: Rodriguez-Pombo 1998 - - - Spain - - 0 - - acidemia, propionic - PCCB PCCB 2 1 Johan den Dunnen
00104129 09683601-GA PubMed: Rodriguez-Pombo 1998 - - - Spain - - 0 - - acidemia, propionic - PCCB PCCB 2 1 Johan den Dunnen
00104130 09683601-EAC PubMed: Rodriguez-Pombo 1998 - - - Spain - - 0 - - acidemia, propionic - PCCB PCCB 2 1 Johan den Dunnen
00104131 09683601-PPM PubMed: Rodriguez-Pombo 1998 - - - Ecuador - - 0 - - acidemia, propionic - PCCB PCCB 2 1 Johan den Dunnen
00104132 09683601-PVD PubMed: Rodriguez-Pombo 1998 - - - Spain - - 0 - - acidemia, propionic - PCCB PCCB 2 1 Johan den Dunnen
00104133 09683601-DMS PubMed: Rodriguez-Pombo 1998 - - - Spain - - 0 - - acidemia, propionic - PCCB PCCB 2 1 Johan den Dunnen
00104134 09683601-HMM PubMed: Rodriguez-Pombo 1998 - - - Chile - - 0 - - acidemia, propionic - PCCB PCCB 2 1 Johan den Dunnen
00104135 09683601-PHH PubMed: Rodriguez-Pombo 1998 - - - Spain - - 0 - - acidemia, propionic - PCCB PCCB 2 1 Johan den Dunnen
00104136 09683601-CJF PubMed: Rodriguez-Pombo 1998 - - - Spain - - 0 - - acidemia, propionic - PCCB PCCB 3 1 Johan den Dunnen
00104137 09683601-MBG PubMed: Rodriguez-Pombo 1998 - - - Spain - - 0 - - acidemia, propionic - PCCB PCCB 2 1 Johan den Dunnen
00104138 09683601-OVE PubMed: Rodriguez-Pombo 1998 - - - Spain - - 0 - - acidemia, propionic - PCCB PCCB 2 1 Johan den Dunnen
00104139 09683601-HM PubMed: Rodriguez-Pombo 1998 - - - Brazil - - 0 - - acidemia, propionic - PCCB PCCB 2 1 Johan den Dunnen
00104140 09683601-LVA PubMed: Rodriguez-Pombo 1998 - - - Spain - - 0 - - acidemia, propionic - PCCB PCCB 1 1 Johan den Dunnen
00104141 09683601-MV PubMed: Rodriguez-Pombo 1998 - - - Chile - - 0 - - acidemia, propionic - PCCB PCCB 2 1 Johan den Dunnen
00104142 10820128-Pat6 PubMed: Ravn 2000 - - - Greenland Inuit - 0 - - acidemia, propionic - PCCB PCCB 2 1 Johan den Dunnen
00104144 11749052-ASF PubMed: Muro 2001 - - - Spain - - 0 - - acidemia, propionic - PCCB PCCB 3 1 Johan den Dunnen
00104145 10447268-AML PubMed: Muro 1999 - - - Spain - - 0 - - acidemia, propionic - PCCB PCCB 3 1 Johan den Dunnen
00104146 10447268-JRC PubMed: Muro 1999 - - - Spain - - 0 - - acidemia, propionic - PCCB PCCB 2 1 Johan den Dunnen
00104147 10447268-EE PubMed: Muro 1999 family, 4 affecteds - - Austria - - 0 - - acidemia, propionic - PCCB PCCB 2 4 Johan den Dunnen
00104148 12189489-Pat1 PubMed: Yorifuji 2002 - - - Japan - - 0 - - acidemia, propionic - PCCB PCCB 2 1 Johan den Dunnen
00104149 12189489-Pat2 PubMed: Yorifuji 2002 - - - Japan - - 0 - - acidemia, propionic - PCCB PCCB 2 1 Johan den Dunnen
00104150 12189489-Pat3 PubMed: Yorifuji 2002 - - - Japan - - 0 - - acidemia, propionic - PCCB PCCB 2 1 Johan den Dunnen
00104151 12189489-Pat4 PubMed: Yorifuji 2002 - - - Japan - - 0 - - acidemia, propionic - PCCB PCCB 2 1 Johan den Dunnen
00104152 12189489-Pat5 PubMed: Yorifuji 2002 - - - Japan - - 0 - - acidemia, propionic - PCCB PCCB 2 1 Johan den Dunnen
00104153 12189489-Pat6 PubMed: Yorifuji 2002 - - - Japan - - 0 - - acidemia, propionic - PCCB PCCB 2 1 Johan den Dunnen
00104154 12189489-Pat7 PubMed: Yorifuji 2002 - - - Japan - - 0 - - acidemia, propionic - PCCB PCCB 1 1 Johan den Dunnen
00104155 12189489-Pat8 PubMed: Yorifuji 2002 - - - Japan - - 0 - - acidemia, propionic - PCCB PCCB 2 1 Johan den Dunnen
00104156 12189489-Pat9 PubMed: Yorifuji 2002 - - - Japan - - 0 - - acidemia, propionic - PCCB PCCB 2 1 Johan den Dunnen
00104157 12189489-Pat10 PubMed: Yorifuji 2002 - - - Japan - - 0 - - acidemia, propionic - PCCB PCCB 2 1 Johan den Dunnen
00104158 12409268-Pat1 PubMed: Kim 2002 - - - Korea - - 0 - - acidemia, propionic - PCCB PCCB 2 1 Johan den Dunnen
00104159 12409268-Pat2 PubMed: Kim 2002 - - - Korea - - 0 - - acidemia, propionic - PCCB PCCB 2 1 Johan den Dunnen
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