Ontology Browser

Term:
mitochondrial pyruvate carrier deficiency (DOID:0080363)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1)
Parent Terms Term With Siblings Child Terms
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency  
3-M syndrome +   
3MC syndrome +   
3p- syndrome 
ABCD syndrome  
aceruloplasminemia  
achalasia microcephaly syndrome 
acheiropody  
achondrogenesis type IB  
achromatopsia 2  
achromatopsia 3  
achromatopsia 7  
acrocapitofemoral dysplasia  
acromesomelic dysplasia, Grebe type  
acromesomelic dysplasia, Hunter-Thompson type  
acromesomelic dysplasia, Maroteaux type  
adult spinal muscular atrophy  
agenesis of the corpus callosum with peripheral neuropathy  
AL-RAQAD SYNDROME  
ALAZAMI-YUAN SYNDROME  
Alpers syndrome +   
alpha-2-plasmin inhibitor deficiency  
Alstrom syndrome  
amelogenesis imperfecta hypomaturation type 2A2  
amelogenesis imperfecta hypomaturation type 2A3  
amelogenesis imperfecta hypomaturation type 2A4  
amelogenesis imperfecta hypomaturation type 2A5  
amelogenesis imperfecta type 1C  
amelogenesis imperfecta type 1F  
amelogenesis imperfecta type 1G  
amelogenesis imperfecta type 1H  
amelogenesis imperfecta type 2A1  
Amelogenesis Imperfecta Type 3C  
Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation 
Antley-Bixler syndrome +   
apraxia +   
ARC syndrome  
arrhythmogenic right ventricular dysplasia 11  
Asparagine Synthetase Deficiency  
asphyxiating thoracic dystrophy +   
Ataxia and Polyneuropathy, Adult-Onset  
Ataxia Neuropathy Spectrum  
Athabaskan brainstem dysgenesis syndrome  
atrichia with papular lesions  
Au-Kline Syndrome  
autoimmune lymphoproliferative syndrome type 2B  
autoimmune lymphoproliferative syndrome type 3  
autosomal recessive Alport syndrome  
autosomal recessive cerebellar ataxia +   
autosomal recessive chronic granulomatous disease cytochrome b-negative  
autosomal recessive chronic granulomatous disease cytochrome b-positive type I  
autosomal recessive chronic granulomatous disease cytochrome b-positive type II  
autosomal recessive chronic granulomatous disease cytochrome b-positive type III  
autosomal recessive congenital ichthyosis +   
Autosomal Recessive Cutis Laxa +   
autosomal recessive distal spinal muscular atrophy 1  
autosomal recessive distal spinal muscular atrophy 2  
Autosomal Recessive Dyskeratosis Congenita +   
autosomal recessive early-onset Parkinson's disease 15  
autosomal recessive early-onset Parkinson's disease 23  
autosomal recessive early-onset Parkinson's disease 6  
autosomal recessive early-onset Parkinson's disease 7  
autosomal recessive Emery-Dreifuss muscular dystrophy 3  
autosomal recessive hypophosphatemic rickets +   
autosomal recessive isolated ectopia lentis 2  
autosomal recessive juvenile Parkinson's disease 2  
autosomal recessive limb-girdle muscular dystrophy +   
autosomal recessive non-syndromic intellectual disability +   
autosomal recessive nonsyndromic deafness +   
autosomal recessive osteopetrosis 1  
autosomal recessive osteopetrosis 2  
autosomal recessive osteopetrosis 3  
autosomal recessive osteopetrosis 4  
autosomal recessive osteopetrosis 5  
autosomal recessive osteopetrosis 6  
autosomal recessive osteopetrosis 7  
autosomal recessive osteopetrosis 8  
autosomal recessive Parkinson's disease 14  
autosomal recessive pericentral pigmentary retinopathy 
autosomal recessive polycystic kidney disease +   
autosomal recessive pseudohypoaldosteronism type 1  
autosomal recessive pyridoxine-refractory sideroblastic anemia 2  
autosomal recessive pyridoxine-refractory sideroblastic anemia 3  
autosomal recessive Robinow syndrome  
autosomal recessive type IV Ehlers-Danlos syndrome 
Bainbridge-Ropers Syndrome  
Bardet-Biedl syndrome +   
Basel-Vanagaite-Smirin-Yosef syndrome  
benign recurrent intrahepatic cholestasis 1  
benign recurrent intrahepatic cholestasis 2  
beta-ketothiolase deficiency  
Bjornstad syndrome  
Bloom syndrome  
Bowen-Conradi syndrome  
brachyolmia-amelogenesis imperfecta syndrome  
branched-chain keto acid dehydrogenase kinase deficiency  
camptodactyly-arthropathy-coxa vara-pericarditis syndrome  
Canavan disease  
carbamoyl phosphate synthetase I deficiency disease  
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal  
cartilage-hair hypoplasia  
CD3epsilon deficiency 
CD3gamma deficiency 
CD40 deficiency  
CEDNIK syndrome  
Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation  
Charcot-Marie-Tooth disease recessive intermediate A  
Charcot-Marie-Tooth disease recessive intermediate B  
Charcot-Marie-Tooth disease recessive intermediate C  
Charcot-Marie-Tooth disease recessive intermediate D  
Chediak-Higashi syndrome +   
Childhood Myocerebrohepatopathy Spectrum 
CHOREA, CHILDHOOD-ONSET, WITH PSYCHOMOTOR RETARDATION  
cleft lip-palate-ectodermal dysplasia syndrome  
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features  
Cockayne syndrome +   
coenzyme Q10 deficiency disease +   
cold-induced sweating syndrome +   
combined oxidative phosphorylation deficiency +   
Combined Oxidative Phosphorylation Deficiency 2  
Combined Oxidative Phosphorylation Deficiency 3  
Congenital Cataracts, Hearing Loss, and Neurodegeneration  
congenital disorder of glycosylation type IIa  
congenital disorder of glycosylation type IIb  
congenital disorder of glycosylation type IIc  
congenital disorder of glycosylation type IId  
congenital disorder of glycosylation type IIe  
congenital disorder of glycosylation type IIf  
congenital disorder of glycosylation type IIg  
congenital disorder of glycosylation type IIh  
congenital disorder of glycosylation type IIi  
congenital disorder of glycosylation type IIj  
congenital disorder of glycosylation type IIk  
congenital disorder of glycosylation type IIl  
congenital disorder of glycosylation type IIn  
congenital disorder of glycosylation type IIo  
congenital disorder of glycosylation type IIp  
congenital disorder of glycosylation type IIq  
congenital generalized lipodystrophy type 4  
Congenital Infantile Lactic Acidosis +   
Cowden-Like Syndrome  
craniolenticulosutural dysplasia  
cystic fibrosis +   
cytochrome-c oxidase deficiency disease +   
De Hauwere Leroy Adriaenssens syndrome 
deafness-dystonia-optic neuronopathy syndrome  
Deoxyguanosine Kinase Deficiency  
Developmental Delay, Epilepsy, and Neonatal Diabetes  
Diaminopentanuria 
dilated cardiomyopathy with woolly hair and keratoderma +   
Donnai-Barrow syndrome  
Donohue syndrome +   
early infantile epileptic encephalopathy 39  
Edinburgh Malformation Syndrome 
Ehlers-Danlos syndrome progeroid type +   
Ellis-Van Creveld syndrome +   
ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2  
epidermodysplasia verruciformis +   
epidermolysis bullosa simplex with muscular dystrophy  
ethylmalonic encephalopathy  
familial erythrocytosis 2  
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1  
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2  
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3  
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4  
Fatal Infantile Lactic Acidosis 
fibular hypoplasia and complex brachydactyly  
Finnish Lethal Neonatal Metabolic Syndrome  
Fraser syndrome +   
Friedreich ataxia +   
Fumaric Aciduria  
Galloway-Mowat syndrome +   
gangliosidosis +   
Genitopatellar Syndrome  
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15  
Griscelli syndrome +   
Growth Retardation, Small and Puffy Hands and Feet, and Eczema 
HAREL-YOON SYNDROME  
HEART AND BRAIN MALFORMATION SYNDROME  
hereditary spastic paraplegia 14 
hereditary spastic paraplegia 15  
hereditary spastic paraplegia 18  
hereditary spastic paraplegia 24 
hereditary spastic paraplegia 25 
hereditary spastic paraplegia 26  
hereditary spastic paraplegia 27 
hereditary spastic paraplegia 28  
hereditary spastic paraplegia 30  
hereditary spastic paraplegia 32 
hereditary spastic paraplegia 35  
hereditary spastic paraplegia 39  
hereditary spastic paraplegia 43  
hereditary spastic paraplegia 44  
hereditary spastic paraplegia 45  
hereditary spastic paraplegia 46  
hereditary spastic paraplegia 47  
hereditary spastic paraplegia 48  
hereditary spastic paraplegia 49  
hereditary spastic paraplegia 50  
hereditary spastic paraplegia 51  
hereditary spastic paraplegia 52  
hereditary spastic paraplegia 53  
hereditary spastic paraplegia 54  
hereditary spastic paraplegia 55  
hereditary spastic paraplegia 56  
hereditary spastic paraplegia 57  
hereditary spastic paraplegia 5A  
hereditary spastic paraplegia 61  
hereditary spastic paraplegia 63  
hereditary spastic paraplegia 64  
hereditary spastic paraplegia 7  
hereditary spastic paraplegia 74  
hereditary spastic paraplegia 75  
hereditary spastic paraplegia 76  
hereditary spastic paraplegia 77  
hereditary spastic paraplegia 9A  
hereditary spastic paraplegia 9B  
Hermansky-Pudlak syndrome +   
hydrolethalus syndrome +   
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA  
Hyperglycinemia, Lactic Acidosis, and Seizures  
Hypermetabolism due to Defect in Mitochondria 
hypertelorism, microtia, facial clefting syndrome 
hypomyelinating leukodystrophy 10  
hypomyelinating leukodystrophy 11  
hypomyelinating leukodystrophy 12  
hypomyelinating leukodystrophy 13  
hypomyelinating leukodystrophy 14  
Hypomyelinating Leukodystrophy 18  
hypomyelinating leukodystrophy 2  
hypomyelinating leukodystrophy 3  
hypomyelinating leukodystrophy 4  
hypomyelinating leukodystrophy 5  
hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism  
hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism  
hypomyelinating leukodystrophy 9  
hypoparathyroidism-retardation-dysmorphism syndrome  
hypotonia-cystinuria syndrome  
immunodeficiency-centromeric instability-facial anomalies syndrome +   
infantile cerebellar-retinal degeneration  
Infantile Hypotonia with Psychomotor Retardation +   
INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN  
JMP syndrome  
Johanson-Blizzard syndrome  
Kahrizi syndrome  
Keppen-Lubinsky Syndrome  
Kozlowski Rafinski Klicharska Syndrome 
Lactic Acidosis, Chronic Adult Form 
Laron syndrome +   
Late-Onset Carnitine Palmitoyltransferase II Deficiency  
Laurence-Moon syndrome  
Leber hereditary optic neuropathy +   
Leigh disease +   
Lethal Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission 1  
leukocyte adhesion deficiency +   
Leukoencephalomyelopathy  
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation  
Loucks-Innes Syndrome  
MacDermot Winter Syndrome 
MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION  
Maple Syrup Urine Disease, E3 Deficient, with Lactic Acidosis 
Marinesco-Sjogren syndrome  
Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency 
Megarbane Syndrome 
Meier-Gorlin syndrome 1  
Meier-Gorlin syndrome 2  
Meier-Gorlin syndrome 3  
Meier-Gorlin syndrome 4  
Meier-Gorlin syndrome 5  
Meier-Gorlin syndrome 7  
Meier-Gorlin syndrome 8  
microphthalmia with limb anomalies  
Mitochondrial Cardiomyopathy  
mitochondrial complex I deficiency +   
mitochondrial complex II deficiency  
mitochondrial complex III deficiency +   
mitochondrial complex V (ATP synthase) deficiency +   
Mitochondrial Cytopathy +   
mitochondrial DNA depletion syndrome +   
mitochondrial DNA depletion syndrome 1  
mitochondrial DNA depletion syndrome 11  
mitochondrial DNA depletion syndrome 12b  
mitochondrial DNA depletion syndrome 13  
mitochondrial DNA depletion syndrome 15  
mitochondrial DNA depletion syndrome 2  
mitochondrial DNA depletion syndrome 3  
mitochondrial DNA depletion syndrome 4A  
mitochondrial DNA depletion syndrome 4B  
mitochondrial DNA depletion syndrome 5  
mitochondrial DNA depletion syndrome 6  
mitochondrial DNA depletion syndrome 8A  
mitochondrial DNA depletion syndrome 8b  
mitochondrial DNA depletion syndrome 9  
Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form, Autosomal Recessive +   
Mitochondrial Myopathy with Lactic Acidosis  
Mitochondrial Phosphate Carrier Deficiency  
mitochondrial pyruvate carrier deficiency  
A mitochondrial metabolism disease that is characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation and has_material_basis_in homozygous mutation in the BRP44L gene on chromosome 6q27. (DO)
mulibrey nanism  
multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly  
multiple acyl-CoA dehydrogenase deficiency +   
multiple congenital anomalies-hypotonia-seizures syndrome 1  
multiple congenital anomalies-hypotonia-seizures syndrome 3  
multiple intestinal atresia  
multiple mitochondrial dysfunctions syndrome +   
multiple mitochondrial dysfunctions syndrome 1  
multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia  
multiple mitochondrial dysfunctions syndrome 3  
multiple mitochondrial dysfunctions syndrome 4  
multiple mitochondrial dysfunctions syndrome 5  
multiple mitochondrial dysfunctions syndrome 6  
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 
myofibrillar myopathy 1  
myofibrillar myopathy 7  
myofibrillar myopathy 8  
Myopathy with Giant Abnormal Mitochondria 
Myopathy with Lactic Acidosis, Hereditary  
Myopathy, Cataract, Hypogonadism Syndrome 
neonatal diabetes mellitus with congenital hypothyroidism  
nephronophthisis +   
nephrotic syndrome type 14  
nephrotic syndrome type 15  
nephrotic syndrome type 16  
Nezelof syndrome 
Nijmegen breakage syndrome +   
Noninsulin-Dependent Diabetes Mellitus with Deafness  
nonphotosensitive trichothiodystrophy +   
oculocutaneous albinism +   
Ogden syndrome  
OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME  
Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria 
Opitz Trigonocephaly Syndrome  
Optic Atrophy, Autosomal Dominant  
orofaciodigital syndrome V  
osteoporosis-pseudoglioma syndrome  
ovarian dysgenesis 1  
ovarian dysgenesis 3  
ovarian dysgenesis 4  
ovarian dysgenesis 5  
ovarian dysgenesis 6  
ovarian dysgenesis 7  
Parkinson's Disease, Mitochondrial  
Pearson syndrome  
Pendred syndrome  
PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT  
permanent neonatal diabetes mellitus +   
Perrault syndrome +   
PHARC syndrome  
PHGDH deficiency  
Pierson syndrome  
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly +   
Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy  
progeria +   
Progressive External Ophthalmoplegia with Hypogonadism 
prothrombin deficiency +   
Proximal Myopathy with Focal Depletion of Mitochondria 
PSAT deficiency  
pseudo-TORCH syndrome 1  
pseudoxanthoma elasticum +   
PSPH deficiency  
Psychomotor Agitation +   
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism  
pyruvate carboxylase deficiency disease +   
pyruvate decarboxylase deficiency +   
Pyruvate Dehydrogenase E1 Alpha Deficiency  
Pyruvate Dehydrogenase E2 Deficiency  
Pyruvate Dehydrogenase E3-Binding Protein Deficiency  
Pyruvate Dehydrogenase Phosphatase Deficiency  
pyruvate kinase deficiency of red cells  
rapadilino syndrome  
rhizomelic chondrodysplasia punctata +   
Riddle syndrome  
Roberts syndrome  
salt and pepper syndrome  
Sarcosinemia  
SC phocomelia syndrome  
Schwartz-Jampel syndrome 1  
Seckel syndrome +   
Sengers syndrome  
Senior-Loken syndrome +   
Sensenbrenner syndrome +   
sepiapterin reductase deficiency  
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive  
sickle cell anemia +   
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay  
Sjogren-Larsson syndrome +   
Sotos syndrome +   
spermatogenic failure 9  
Spinocerebellar Ataxia with Epilepsy  
spondyloepimetaphyseal dysplasia, Pakistani type  
spondyloepimetaphyseal dysplasia, Sponastrime type 
Succinate-Coa Ligase Deficiency +   
temtamy preaxial brachydactyly syndrome  
thalassemia +   
THAUVIN-ROBINET-FAIVRE SYNDROME  
thiamine-responsive megaloblastic anemia syndrome  
Tricarboxylic Acid Cycle, Defect of 
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet 
trimethylaminuria  
triple-A syndrome  
urofacial syndrome +   
Usher syndrome +   
UV-sensitive syndrome +   
VDAC Deficiency 
Verheij Syndrome  
very long chain acyl-CoA dehydrogenase deficiency  
Vici syndrome  
Warburg micro syndrome +   
Werner syndrome +   
Wolcott-Rallison syndrome  
Wolfram syndrome 2  
xeroderma pigmentosum +   
ZTTK Syndrome  

Synonyms
Exact Synonyms: MPYCD
Primary IDs: OMIM:614741
Alternate IDs: DOID:9002810 ;   RDO:9000572
Xrefs: ORDO:447784
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/22628558

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.