All individuals with variants in gene PCCA

37 entries on 1 page. Showing entries 1 - 37.
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00000029 - PubMed: Almomani 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00000030 - PubMed: Bell 2011 - - - - - - - - - Healthy/Control - 1 1 Global Variome, with Curator vacancy
00081009 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - acidemia, propionic Propionicacidemia (OMIM:606054) 1 1 Daniel Trujillano
00104049 - - - - - - - - - - - ? Propionic acidemia with adult-onset dilated cardiomyopathy. 2 1 Moniek Riemersma
00104054 p1 PubMed: Desviat 2009 - - - - - - - - - acidemia, propionic - 2 1 Lourdes R. Desviat
00104055 p2 PubMed: Desviat 2009 - - - - - - - - - acidemia, propionic - 2 1 Lourdes R. Desviat
00104056 p3 PubMed: Desviat 2009 - - - - - - - - - acidemia, propionic - 2 1 Lourdes R. Desviat
00104057 09385377-MSO PubMed: Richard 1997, PubMed: Clavero 2004 - - - - - >18y - - - acidemia, propionic late-onset, relatively mild; favorable response to restriction dietary protein, psychomotor development adequate 1 1 Johan den Dunnen
00104058 09385377-SAG PubMed: Richard 1997 - - - - - - - - - acidemia, propionic late-onset; favorable response to restriction dietary protein, psychomotor development adequate 1 1 Johan den Dunnen
00104059 09385377-JJLF PubMed: Richard 1997 - - - - - - - - - acidemia, propionic severe, neonatal, died soon after diagnosis 1 1 Johan den Dunnen
00104060 19157943-? PubMed: Desviat 2009 - - - Australia - - - - - acidemia, propionic - 1 1 Johan den Dunnen
00104061 19157943-? PubMed: Desviat 2009 - - - Germany - - - - - acidemia, propionic - 1 1 Johan den Dunnen
00104062 19157943-? PubMed: Desviat 2009 - - - - - - - - - acidemia, propionic - 1 5 Johan den Dunnen
00104063 19157943-? PubMed: Desviat 2009 - - - - - - - - - acidemia, propionic - 1 3 Johan den Dunnen
00104064 19157943-? PubMed: Desviat 2009 - - - - Arab - - - - acidemia, propionic - 1 4 Johan den Dunnen
00104065 19157943-? PubMed: Desviat 2009 - - - - Arab - - - - acidemia, propionic - 1 1 Johan den Dunnen
00104066 19157943-? PubMed: Desviat 2009 - - - Malaysia - - - - - acidemia, propionic - 1 1 Johan den Dunnen
00104067 19157943-? PubMed: Desviat 2009 - - - Italy - - - - - acidemia, propionic - 1 1 Johan den Dunnen
00104068 19157943-? PubMed: Desviat 2009 - - - Spain - - - - - acidemia, propionic - 1 1 Johan den Dunnen
00104069 19157943-? PubMed: Desviat 2009 - - - Germany - - - - - acidemia, propionic - 1 1 Johan den Dunnen
00104070 19157943-? PubMed: Desviat 2009 - - - United States - - - - - acidemia, propionic - 1 1 Johan den Dunnen
00104071 19157943-? PubMed: Desviat 2009 - - - Lebanon - - - - - acidemia, propionic - 1 1 Johan den Dunnen
00290826 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00290827 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00290828 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00290829 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00295490 - - - M - China - - - - - acidemia, propionic Patient was three weeks old when he presented with tachypnea and malignant hyperthermia, and was diagnosed with presumed sepsis. He was admitted to the hospital three times due to recurrent andrespiratory tract infections. At six months of age, he developed generalized tonic clonic seizures, metabolic acidosis (bicarbonate, 15.4 mmol/L) and hyperammonemia (ammonia, 516μmol/L). Only then did he undergo the screening by MS/MS and GC-MS, and diagnosed with PA. Unfortunately, he died at six and a half months of age from sudden cardiac arrest. 2 1 Yangqi
00295491 - - - F - China - - - - - acidemia, propionic Patient had suffered from recurrent vomiting, lethargy and hyperventilation at the age of one month. He underwent fundoplication and gastrostomy tube placement at age of 1.5 years for caloric intake. He is now three years old and has shown mild mental retardation, and his weight has increased from the 5th percentile to the 20th percentile. 1 1 Yangqi
00306714 - PubMed: Neumann 2021 healthy couple at-risk with denied consanguinity and antecedent of a deceased newborn due to a biochemically confirmed Propionic Acidemia without confirmed PCCA/PCCB genotype - no Mexico Mexican 32y - - - Healthy/Control - 1 2 Miguel Angel Alcántara-Ortigoza
00308743 - PubMed: Le 2019 analysis 305 unrelated individuals - - Viet Nam - - - - - Healthy/Control - 1 1 Global Variome, with Curator vacancy
00380812 ? PubMed: Nair 2018 - ? - Lebanon - - - - - acidemia, propionic DD; ID; regression; muscular hypotonia; neuropathy; abnormal hair; failure to thrive; severe encephalopathy; Nerves disease (Neurological) 1 1 LOVD
00452264 - PubMed: Wang 2019 screening 401,660 newborns for inborn errors of metabolism - - China - - - - - ? - 2 1 Johan den Dunnen
00464611 AP-21 Unpublished - F yes Mexico Mexican ? - - - acidemia, propionic HP:0001263 1 1 Miriam Erandi Reyna-Fabián
00464612 AP-08 Unpublished - F ? Mexico Mexican ? - - - acidemia, propionic HP:0011968 feeding difficulties, HP:0002013: vomiting,  HP:0002020: Gastroesophageal reflux , HP:0000952: Jaundice, HP:0001903: anemia,  HP:0001875: neutropenia,  HP:0001873: Thrombocytopenia,  HP:0001250: seisure,  HP:0002181: cerebral edema,  HP:0001336: Myoclonus, HP:0001942: metabolic acidosis, HP:0031962: Elevated serum anion gap,  HP:0001987: Hyperammonemia, HP:0001943: Hypoglycemia, HP:0003074: Hyperglycemia, 2 1 Miriam Erandi Reyna-Fabián
00464616 AP-19 Unpublished - F ? Mexico Mexican 12y04m17y - - - acidemia, propionic HP:0011096 Somnolence, HP:0001254 Lethargy, HP:0001252 Hypotonia, HP:0001257 Spasticity, HP:0001944 Dehydration, HP:0002033 Poor suck , HP:0011968 Feeding difficulties,  HP:0002013 Vomiting, HP:0001903 Anemia, Leukopenia HP:0001882, HP:0001875 Neutropenia, HP:0001888 Lymphopenia, HP:0001873 Thrombocytopenia, HP:0001987 Hyperammonemia,  HP:0001943 Hypoglycemia 1 1 Miriam Erandi Reyna-Fabián
00464625 AP-13 Unpublished - F yes Mexico Mexican 14y09m19d - - - acidemia, propionic HP:0000737 Irritability, HP:0011096 Somnolence,HP.0001254 Lethargy, HP:0001252 Hypotonia, HP:0001944 Dehydration, HP:0000980 Pallor, HP:0030680 Congenital malformation, HP:0002104 Apnea, HP:0002789 Tachypnea, HP.0002094 Dyspnea, HP:0002033 Poor suck, HP:0011968 Feeding difficulties,  HP:0002013 Vomiting,  HP:0002020  Gastroesophageal reflux,  HP:0002014 Diarrhea,  HP:0002019 Constipation, HP:0002240 Hepatomegaly, HP:0001947 Renal tubular acidosis,   HP:0000951 Abnormality of the skin,  HP:0100806 Sepsis, HP:0001945 Fever,  HP:0001903 Anemia , Leukopenia HP:0001882,  HP:0001875 Neutropenia,  HP:0001888 Lymphopenia,  HP:0001873Thrombocytopenia,  HP:0001263 Global developmental delay,  HP:0001250 Seizure,  HP:0001342 Cerebral hemorrhage,   HP:0002059 Cerebral atrophy ,  HP:0001336 Myoclonus,  HP:0001337 Tremor, HP:0001942 Metabolic acidosis ,  HP:0001987 Hyperammonemia, Hypoglycemia HP:0001943 2 2 Miriam Erandi Reyna-Fabián
00464626 AP-16 Unpublished - M ? Mexico Mexican ? - - - acidemia, propionic HP:0001252 Hypotonia, HP:0001944 Dehydration, HP:0001945 Hypothermia, HP:0001662 Bradycardia, Poor suck HP:0002033, HP:0011968 Feeding difficulties,  HP:0000952 Jaundice,  HP:0001250 Seizure, Hypoglycemia HP:0001943   1 1 Miriam Erandi Reyna-Fabián
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