Care4Rare Canada Consortium Selected Research

phosphatidylserine decarboxylase

1/2019

PISD is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes.

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Care4Rare Canada Consortium Research Topics

Disease

7	Intellectual Disability (Idiocy) 01/2021 - 11/2015
5	Mitochondrial Diseases (Mitochondrial Disease) 10/2022 - 11/2018
4	Epilepsy (Aura) 11/2019 - 01/2019
4	Microcephaly 01/2019 - 11/2015
3	Seizures (Absence Seizure) 10/2018 - 01/2017
2	Mitochondrial encephalopathy 10/2022 - 01/2019
2	Muscle Hypotonia (Hypotonia) 01/2021 - 01/2017
2	Carcinogenesis 01/2021 - 12/2020
2	Neoplasms (Cancer) 12/2020 - 12/2017
2	Neurodegenerative Diseases (Neurodegenerative Disease) 12/2020 - 01/2019
2	Inborn Genetic Diseases (Disease, Hereditary) 11/2019 - 11/2015
2	Peripheral Nervous System Diseases (PNS Diseases) 07/2019 - 01/2019
2	Movement Disorders (Movement Disorder) 01/2019 - 01/2019
2	Atrophy 01/2019 - 12/2015
2	Cerebellar Ataxia (Dysmetria) 01/2017 - 01/2016
1	Adrenal Insufficiency (Adrenal Gland Hypofunction) 01/2021
1	congenital fibrosis of the extraocular muscles 01/2021
1	Obesity 01/2021
1	Alacrima 01/2021
1	Achalasia Addisonianism Alacrimia syndrome 01/2021
1	Malformations of Cortical Development 01/2021
1	Esophageal Achalasia (Megaesophagus) 01/2021
1	Neurodevelopmental Disorders 01/2021
1	Neurologic Manifestations (Neurological Manifestations) 12/2020
1	Glycogen Storage Disease (Glycogenosis) 01/2020
1	Muscular Dystrophies (Muscular Dystrophy) 12/2019
1	Autistic Disorder (Autism) 11/2019
1	Ataxia Telangiectasia (Louis Bar Syndrome) 10/2019
1	Hearing Loss (Hearing Impairment) 07/2019
1	Premature Aging 04/2019
1	Dilated Cardiomyopathy (Cardiomyopathy, Congestive) 04/2019
1	Ectodermal Dysplasia (Aplasia Cutis Congenita) 01/2019
1	Cataract (Cataracts) 01/2019
1	Rare Diseases (Rare Disease) 01/2019
1	Sensorineural Hearing Loss 11/2018
1	Coenzyme Q10 Deficiency 01/2018
1	Leukoencephalopathies 01/2018
1	Metabolic Diseases (Metabolic Disease) 01/2018
1	Fibrosarcoma 12/2017
1	Fibroma (Fibromatosis) 12/2017
1	Autosomal Dominant Cutis Laxa 06/2017
1	Brachydactyly 05/2017
1	Ataxia (Dyssynergia) 01/2017
1	Narcolepsy 01/2016
1	Deafness (Deaf Mutism) 01/2016
1	Facies 06/2014

Drug/Important Bio-Agent (IBA)

7	Proteins (Proteins, Gene)FDA Link 01/2021 - 06/2014
2	Histones (Histone)IBA 12/2020 - 12/2017
2	EnzymesIBA 01/2020 - 01/2019
2	Phosphotransferases (Kinase)IBA 11/2019 - 10/2019
2	Biological ProductsIBA 07/2019 - 12/2017
2	Nonsense Codon (Nonsense Mutation)IBA 01/2019 - 10/2018
1	cardiolipin synthetaseIBA 10/2022
1	Cardiolipins (Cardiolipin)IBA 10/2022
1	ProteomeIBA 10/2022
1	Adrenocorticotropic Hormone (ACTH)FDA Link 01/2021
1	2- amino- 1- methyl- 6- phenylimidazo(4,5- b)pyridineIBA 01/2021
1	TubulinIBA 01/2021
1	Glucose (Dextrose)FDA LinkGeneric 01/2020
1	GlycogenIBA 01/2020
1	Mitochondrial DNA (mtDNA)IBA 12/2019
1	Myosins (Myosin)IBA 07/2019
1	Protein Isoforms (Isoforms)IBA 07/2019
1	Deoxyglucose (2 Deoxy D glucose)IBA 01/2019
1	Retinaldehyde (Retinal)IBA 01/2019
1	VitaminsIBA 01/2019
1	phosphatidylserine decarboxylaseIBA 01/2019
1	IronIBA 01/2019
1	Leucovorin (Folinic Acid)FDA Link 01/2019
1	Peptide Hydrolases (Proteases)FDA Link 01/2019
1	phosphatidylethanolamineIBA 01/2019
1	PhosphatidylserinesIBA 01/2019
1	RNA (Ribonucleic Acid)IBA 01/2019
1	Mitochondrial RNAIBA 11/2018
1	Carrier Proteins (Binding Protein)IBA 11/2018
1	Wiskott-Aldrich Syndrome Protein FamilyIBA 01/2018
1	Systemic carnitine deficiencyIBA 01/2018
1	coenzyme Q10 (CoQ10)IBA 01/2018
1	ubiquinone 9IBA 01/2018
1	Lysine (L-Lysine)FDA Link 12/2017
1	Aldehyde DehydrogenaseIBA 06/2017
1	Arginine (L-Arginine)FDA Link 05/2017
1	Immunoglobulin D (IgD)IBA 01/2017
1	Adenosine Diphosphate Ribose (ADP-Ribose)IBA 01/2017
1	Poly(ADP-ribose) Polymerases (Poly ADP Ribose Polymerase)IBA 01/2017
1	MethyltransferasesIBA 01/2016
1	ManganeseIBA 12/2015
1	zinc-binding protein (zinc binding protein)IBA 12/2015
1	Phosphoric Monoester Hydrolases (Phosphatases)IBA 11/2015
1	Peptide Initiation Factors (Initiation Factor)IBA 11/2015
1	CohesinsIBA 06/2014