PA-1
MCID: PRP001
MIFTS: 63

Propionic Acidemia (PA-1)

Categories: Blood diseases, Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Propionic Acidemia

MalaCards integrated aliases for Propionic Acidemia:

Name: Propionic Acidemia 57 12 24 53 25 59 37 55 44 15 73
Propionyl-Coa Carboxylase Deficiency 57 12 53 25 59 29 6
Ketotic Hyperglycinemia 57 12 53 25 59 55
Propionicacidemia 57 53 25 13
Pcc Deficiency 57 76 53 25
Hyperglycinemia with Ketoacidosis and Leukopenia 57 53 25
Glycinemia, Ketotic 57 12 53
Ketotic Glycinemia 12 53 25
Acidemia, Propionic 76 40
Propionic Aciduria 12 59
Prop 53 25
Propionic Acidemia Type Ii 75
Propionic Acidemia Type I 75
Hyperglycinemia, Ketotic 76
Ketotic Ii Glycinemia 12
Propionicaciduria 73
Pa-1 75
Pa-2 75

Characteristics:

Orphanet epidemiological data:

59
propionic acidemia
Inheritance: Autosomal recessive; Prevalence: >1/1000 (Canada),1-9/100000 (Worldwide),1-9/1000000 (Europe),1-9/1000000 (Italy),1-9/100000 (Germany),1-5/10000 (Saudi Arabia),1-9/100000 (Japan),1-9/100000 (Korea, Republic of); Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
majority of patients develop symptoms within the first few weeks of life
two complementation groups - pcca (secondary to defects in the alpha chain of pcc, ) and pccbc (secondary to defects in the beta subunit of pcc, )
course characterized by repeated relapses precipitated by excessive protein intake, intercurrent infection, or constipation


HPO:

32
propionic acidemia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Inborn errors of metabolism


Summaries for Propionic Acidemia

NIH Rare Diseases : 53 Propionic acidemia is an inherited condition that occurs when the body is unable to process certain parts of proteins and lipids (fats) properly. As a result, abnormal levels of toxic substances build up in the blood and tissues, which can cause serious health problems. Signs and symptoms of the condition generally develop within the firsts few days after birth and may include poor feeding, vomiting, loss of appetite, weak muscle tone (hypotonia), and lack of energy (lethargy). Without early diagnosis and treatment, these symptoms may progress to more serious medical problems, such as heart abnormalities, seizures, coma, and possibly death. Propionic acidemia is caused by changes (mutations) in the PCCA and PCCB genes and is inherited in an autosomal recessive manner. Treatment generally includes a special diet and addressing symptoms during a metabolic crisis.

MalaCards based summary : Propionic Acidemia, also known as propionyl-coa carboxylase deficiency, is related to 3-methylcrotonyl-coa carboxylase deficiency and methylmalonic aciduria due to methylmalonyl-coa mutase deficiency, and has symptoms including seizures, vomiting and apnea. An important gene associated with Propionic Acidemia is PCCA (Propionyl-CoA Carboxylase Subunit Alpha), and among its related pathways/superpathways are Valine, leucine and isoleucine degradation and Propanoate metabolism. The drugs Methylcobalamin and Metronidazole have been mentioned in the context of this disorder. Affiliated tissues include heart, liver and brain, and related phenotypes are intellectual disability and constipation

Disease Ontology : 12 An organic acidemia that involes a nonfunctional propionyl CoA carboxylase affecting conversion of aminio acids and fats into sugar for energy.

Genetics Home Reference : 25 Propionic acidemia is an inherited disorder in which the body is unable to process certain parts of proteins and lipids (fats) properly. It is classified as an organic acid disorder, which is a condition that leads to an abnormal buildup of particular acids known as organic acids. Abnormal levels of organic acids in the blood (organic acidemia), urine (organic aciduria), and tissues can be toxic and can cause serious health problems.

UniProtKB/Swiss-Prot : 75 Propionic acidemia type I: Life-threatening disease characterized by episodic vomiting, lethargy and ketosis, neutropenia, periodic thrombocytopenia, hypogammaglobulinemia, developmental retardation, and intolerance to protein.

Wikipedia : 76 Pyruvate carboxylase deficiency is an inherited disorder that causes lactic acid to accumulate in the... more...

Description from OMIM: 606054
GeneReviews: NBK92946

Related Diseases for Propionic Acidemia

Diseases related to Propionic Acidemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 85)
# Related Disease Score Top Affiliating Genes
1 3-methylcrotonyl-coa carboxylase deficiency 30.4 ACAD8 ACADSB HMGCL
2 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency 30.3 HLCS HMGCL MMAA OTC
3 alpha-methylacetoacetic aciduria 30.0 ACAD8 ACADSB SLC25A13
4 metabolic acidosis 29.9 HLCS HMGCL MLYCD
5 spasticity, childhood-onset, with hyperglycinemia 12.0
6 d-glyceric aciduria 11.5
7 atypical glycine encephalopathy 11.3
8 teratocarcinoma 10.6
9 encephalopathy 10.5
10 neuropathy 10.3
11 glutathione synthetase deficiency 10.3
12 monocarboxylate transporter 1 deficiency 10.3
13 mitochondrial dna depletion syndrome 10.3
14 optic nerve disease 10.3
15 autism 10.2
16 achondroplasia 10.2
17 ovarian cancer 10.2
18 neural tube defects 10.2
19 neural tube defects, folate-sensitive 10.2
20 epileptic encephalopathy, early infantile, 3 10.2
21 epileptic encephalopathy, early infantile, 4 10.2
22 early myoclonic encephalopathy 10.2
23 maple syrup urine disease 10.1
24 premature ovarian failure 1 10.1
25 diabetes mellitus, ketosis-prone 10.1
26 dilated cardiomyopathy 10.1
27 cardiac arrest 10.1
28 epilepsy 10.1
29 long qt syndrome 10.1
30 postpartum psychosis 10.1 ASS1 OTC
31 biotin deficiency 10.1 HLCS PCCB
32 carbamoyl phosphate synthetase i deficiency, hyperammonemia due to 10.1 ASS1 NAGS OTC
33 biotinidase deficiency 10.1 HLCS PCCB
34 argininemia 10.0 ASS1 NAGS OTC
35 multiple carboxylase deficiency 10.0 HLCS OTC PCCB
36 reye syndrome 10.0 ASS1 HMGCL OTC
37 teratoma 10.0
38 malignant teratoma 10.0
39 citrullinemia, type ii, adult-onset 10.0 ASS1 SLC25A13
40 orotic aciduria 10.0 ASS1 OTC
41 anorectal anomalies 10.0
42 epicanthus 10.0
43 noonan syndrome 1 10.0
44 cystinuria 10.0
45 glycine encephalopathy 10.0
46 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
47 acute liver failure 10.0
48 chronic kidney failure 10.0
49 neutropenia 10.0
50 autism spectrum disorder 10.0

Graphical network of the top 20 diseases related to Propionic Acidemia:



Diseases related to Propionic Acidemia

Symptoms & Phenotypes for Propionic Acidemia

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive

Growth Height:
short stature

Skeletal:
osteoporosis

Hematology:
anemia
pancytopenia
thrombocytopenia
neutropenia

Neurologic Central Nervous System:
dystonia
coma
lethargy
cerebral atrophy
limb hypertonia
more
Respiratory:
apnea
tachypnea

Skin Nails Hair Skin:
dermatitis acidemica

Abdomen Liver:
hepatomegaly

Abdomen Gastrointestinal:
dehydration
vomiting
feeding difficulties
decreased appetite

Laboratory Abnormalities:
hypoglycemia
lactic acidosis
hyperammonemia
propionyl-coa carboxylase deficiency
hyperglycinemia
more
Cardiovascular Heart:
cardiomyopathy

Abdomen Pancreas:
pancreatitis

Metabolic Features:
metabolic acidosis


Clinical features from OMIM:

606054

Human phenotypes related to Propionic Acidemia:

59 32 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
2 constipation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002019
3 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
4 hepatomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002240
5 arrhythmia 59 32 frequent (33%) Frequent (79-30%) HP:0011675
6 hypoglycemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001943
7 cardiomyopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001638
8 abnormality of immune system physiology 59 32 frequent (33%) Frequent (79-30%) HP:0010978
9 hyperammonemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001987
10 organic aciduria 59 32 hallmark (90%) Very frequent (99-80%) HP:0001992
11 propionyl-coa carboxylase deficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0003353
12 seizures 32 HP:0001250
13 failure to thrive 32 HP:0001508
14 short stature 32 HP:0004322
15 feeding difficulties in infancy 32 HP:0008872
16 dehydration 32 HP:0001944
17 vomiting 32 HP:0002013
18 osteoporosis 32 HP:0000939
19 anemia 32 HP:0001903
20 pancytopenia 32 HP:0001876
21 dystonia 32 HP:0001332
22 thrombocytopenia 32 HP:0001873
23 pancreatitis 32 HP:0001733
24 apnea 32 HP:0002104
25 lactic acidosis 32 HP:0003128
26 coma 32 HP:0001259
27 neutropenia 32 HP:0001875
28 eczema 32 HP:0000964
29 lethargy 32 HP:0001254
30 metabolic acidosis 32 HP:0001942
31 cerebral atrophy 32 HP:0002059
32 tachypnea 32 HP:0002789
33 poor appetite 32 HP:0004396
34 limb hypertonia 32 HP:0002509
35 muscular hypotonia of the trunk 32 HP:0008936
36 acute encephalopathy 32 HP:0006846
37 hyperglycinemia 32 HP:0002154
38 cerebellar hemorrhage 32 occasional (7.5%) HP:0011695
39 hyperglycinuria 32 HP:0003108
40 increased level of hippuric acid in urine 32 HP:0410066

UMLS symptoms related to Propionic Acidemia:


seizures, vomiting, apnea, lethargy, decrease in appetite

MGI Mouse Phenotypes related to Propionic Acidemia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 9.02 ACAD8 HMGCL OTC PCCA SLC25A13

Drugs & Therapeutics for Propionic Acidemia

Drugs for Propionic Acidemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 23)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methylcobalamin Approved, Experimental, Investigational Phase 3 13422-55-4
2
Metronidazole Approved Phase 3 443-48-1 4173
3
Hydroxocobalamin Approved Phase 3 13422-51-0 11953898 44475014
4
Biotin Approved, Investigational, Nutraceutical Phase 3 58-85-5 171548
5
Cyanocobalamin Approved, Nutraceutical Phase 3 68-19-9 44176380
6
Cobalamin Experimental Phase 3 13408-78-1 6438156
7 Vitamins Phase 3
8 Vitamin B 12 Phase 3
9 carnitine Phase 3
10 Vitamin B7 Phase 3
11 Vitamin B12 Phase 3
12 Vitamin B Complex Phase 3
13
Glutamic Acid Approved, Nutraceutical Phase 2,Phase 1 56-86-0 33032
14
Ornithine Approved, Nutraceutical Phase 2,Phase 1 3184-13-2, 70-26-8 6262
15
Citric Acid Approved, Nutraceutical, Vet_approved Phase 1 77-92-9 311
16 glutamine Phase 1
17 Citrate Phase 1
18 Chelating Agents Phase 1
19 Anticoagulants Phase 1
20 Calcium, Dietary Phase 1
21 leucine Not Applicable
22 isoleucine Not Applicable
23 valine Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Carglumic Acid in Methylmalonic Acidemia and Propionic Acidemia Active, not recruiting NCT02426775 Phase 3 Carglumic Acid
2 Long-term Outcome of N-Carbamylglutamate Treatment in Propionic Acidemia and Methylmalonic Acidemia Terminated NCT01597440 Phase 2 N-carbamylglutamate
3 Short-Term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia Recruiting NCT01599286 Phase 2 Carbaglu;Placebo;Standard of Care Treatment
4 Increasing Ureagenesis in Inborn Errors of Metabolism With N-Carbamylglutamate Withdrawn NCT01341379 Phase 2 N-carbamylglutamate
5 Anaplerotic Therapy in Propionic Acidemia Completed NCT00645879 Phase 1 ornithine alpha ketoglutarate;glutamine;disodium citrate
6 Natural History, Physiology, Microbiome and Biochemistry Studies of Propionic Acidemia Recruiting NCT02890342
7 Review of Charts From Amish/Mennonite Variant PA Patients Recruiting NCT03159026
8 "The MaP Study": Mapping the Patient Journey in MMA and PA Recruiting NCT03484767
9 Branched Chain Amino Acids Ratio in Medical Foods Recruiting NCT03539809 Not Applicable

Search NIH Clinical Center for Propionic Acidemia

Cochrane evidence based reviews: propionic acidemia

Genetic Tests for Propionic Acidemia

Genetic tests related to Propionic Acidemia:

# Genetic test Affiliating Genes
1 Propionyl-Coa Carboxylase Deficiency 29 PCCA PCCB

Anatomical Context for Propionic Acidemia

MalaCards organs/tissues related to Propionic Acidemia:

41
Heart, Liver, Brain, Skin, Kidney, Testes, B Cells

Publications for Propionic Acidemia

Articles related to Propionic Acidemia:

(show top 50) (show all 273)
# Title Authors Year
1
Long-term continuous N-carbamylglutamate treatment in frequently decompensated propionic acidemia: a case report. ( 29679984 )
2018
2
Import of TAT-conjugated propionyl-CoA carboxylase using models of propionic acidemia. ( 29378828 )
2018
3
Propionate enters GABAergic neurons, inhibits GABA transaminase, causes GABA accumulation and lethargy in a model of propionic acidemia. ( 29339464 )
2018
4
Novel Heterozygous PCCA Mutations with Fatal Outcome in Propionic Acidemia. ( 29978829 )
2018
5
Domino Liver Transplantation from a Child with Propionic Acidemia to a Child with Idiopathic Fulminant Hepatic Failure. ( 29725551 )
2018
6
Metabolic cardiomyopathy from propionic acidemia precipitating cardiac arrest in a 25-year-old man. ( 30037889 )
2018
7
Incidence of maple syrup urine disease, propionic acidemia, and methylmalonic aciduria from newborn screening data. ( 30023298 )
2018
8
Axonal peripheral neuropathy in propionic acidemia: A severe side effect of long-term metronidazole therapy. ( 30120134 )
2018
9
Long-term outcomes in Amish patients diagnosed with propionic acidemia. ( 30013935 )
2018
10
Epilepsy in Propionic Acidemia: Case Series of 14 Saudi Patients. ( 30014764 )
2018
11
Liver Transplantation for Propionic Acidemia and Methylmalonic Acidemia: Perioperative Management and Clinical Outcomes. ( 30080956 )
2018
12
A Novel PCCA Mutation in a Patient With Late-Onset Propionic Acidemia Identified by Genetic Diagnosis Panel. ( 30186825 )
2018
13
Unique neuroradiological findings in propionic acidemia. ( 30233761 )
2018
14
The Role of Liver Transplantation in Propionic Acidemia. ( 30242960 )
2018
15
Identification of 34 novel mutations in propionic acidemia: Functional characterization of missense variants and phenotype associations. ( 30274917 )
2018
16
Dietary Management of Propionic Acidemia: Parent Caregiver Perspectives and Practices. ( 30357861 )
2018
17
Liver Transplantation for Propionic Acidemia: Providing a Basic Solution. ( 30375139 )
2018
18
Different approaches to liver transplantation in propionic acidemia patients. ( 30472769 )
2018
19
Determination of methylmalonyl coenzyme A by ultra high-performance liquid chromatography tandem mass spectrometry for measuring propionyl coenzyme A carboxylase activity in patients with propionic acidemia. ( 28189105 )
2017
20
Acute Illness Protocol for Organic Acidemias: Methylmalonic Acidemia and Propionic Acidemia. ( 28141776 )
2017
21
Antenatal nephromegaly and propionic acidemia: a case report. ( 28359305 )
2017
22
Dysregulated miRNAs and their pathogenic implications for the neurometabolic disease propionic acidemia. ( 28720782 )
2017
23
Treatment with antioxidants ameliorates oxidative damage in a mouse model of propionic acidemia. ( 28774709 )
2017
24
Generation and characterization of a human iPSC line from a patient with propionic acidemia due to defects in the PCCA gene. ( 28925364 )
2017
25
Long QT syndrome diagnosed in two sisters with propionic acidemia: a case report. ( 28820736 )
2017
26
Possible mechanisms for sensorineural hearing loss and deafness in patients with propionic acidemia. ( 28193246 )
2017
27
Anaplerotic therapy in propionic acidemia. ( 28712602 )
2017
28
Autism spectrum disorders in propionic acidemia patients. ( 28856627 )
2017
29
Veno-Venous Extracorporeal Membrane Oxygenation for Continuous Renal Replacement in a Neonate with Propionic Acidemia. ( 28298669 )
2017
30
Central Venous Catheter-Related Bloodstream Infection with<i>Kocuria kristinae</i>in a Patient with Propionic Acidemia. ( 28194286 )
2017
31
Simultaneous determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in dried blood spots: Second-tier LC-MS/MS assay for newborn screening of propionic acidemia, methylmalonic acidemias and combined remethylation disorders. ( 28915261 )
2017
32
Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine. ( 27900673 )
2017
33
Propionic acidemia as a cause of adult-onset dilated cardiomyopathy. ( 28853722 )
2017
34
Liver Transplantation for Propionic Acidemia. ( 26881497 )
2017
35
Comparison of Methods of Initial Ascertainment in 58 Cases of Propionic Acidemia Enrolled in the Inborn Errors of Metabolism Information System Reveals Significant Differences in Time to Evaluation and Symptoms at Presentation. ( 27776753 )
2017
36
Dietary practices in propionic acidemia: A European survey. ( 29021961 )
2017
37
Successful pregnancy and delivery in a woman with propionic acidemia from the Amish community. ( 28649556 )
2016
38
Continuous Venovenous Hemodialysis Via Extracorporeal Membrane Oxygenation Pump for Treatment of Hyperammonemia Secondary to Propionic Acidemia in Monochorionic Diamniotic Twin Boys. ( 27283461 )
2016
39
Seventeen Novel Mutations in PCCA and PCCB Genes in Indian Propionic Acidemia Patients, and Their Outcomes. ( 27227689 )
2016
40
Successful Treatment of Bacillus cereus Bacteremia in a Patient with Propionic Acidemia. ( 27195164 )
2016
41
Autism in patients with propionic acidemia. ( 27825584 )
2016
42
Recapitulation of metabolic defects in a model of propionic acidemia using patient-derived primary hepatocytes. ( 26740382 )
2016
43
Anaesthetic considerations for liver transplantation in propionic acidemia. ( 26962256 )
2016
44
In vivo evidence of mitochondrial dysfunction and altered redox homeostasis in a genetic mouse model of propionic acidemia: Implications for the pathophysiology of this disorder. ( 27083476 )
2016
45
Propionic acidemia: a Turkish case report of a successful pregnancy, labor and lactation. ( 27089410 )
2016
46
Antibody-mediated rejection after ABO-incompatible pediatric living donor liver transplantation for propionic acidemia: A case report. ( 27436684 )
2016
47
Towards the development of an enzyme replacement therapy for the metabolic disorder propionic acidemia. ( 27504265 )
2016
48
Long QTc Syndrome and Propionic Acidemia. ( 27771658 )
2016
49
[Analysis of PCCA and PCCB gene mutations in patients with propionic acidemia]. ( 25636094 )
2015
50
Masquerading acidosis after cardiopulmonary bypass: a case of propionic acidemia and congenital heart disease. ( 25870350 )
2015

Variations for Propionic Acidemia

UniProtKB/Swiss-Prot genetic disease variations for Propionic Acidemia:

75 (show all 43)
# Symbol AA change Variation ID SNP ID
1 PCCA p.Ala75Pro VAR_009087 rs794727479
2 PCCA p.Arg77Trp VAR_009088 rs141371306
3 PCCA p.Ala138Thr VAR_009089 rs202247814
4 PCCA p.Ile164Thr VAR_009090 rs202247815
5 PCCA p.Met229Lys VAR_009091 rs375628794
6 PCCA p.Gln297Arg VAR_009092
7 PCCA p.Asp368Gly VAR_009093
8 PCCA p.Met373Lys VAR_009094 rs121964958
9 PCCA p.Gly379Val VAR_009095 rs794727087
10 PCCA p.Arg399Gln VAR_009096 rs130190462
11 PCCA p.Pro423Leu VAR_009097 rs144385889
12 PCCA p.Trp559Leu VAR_009099 rs118169528
13 PCCA p.Gly631Arg VAR_009100 rs796052018
14 PCCA p.Gly668Arg VAR_009101 rs771438170
15 PCCA p.Gly197Glu VAR_023843
16 PCCA p.Cys398Arg VAR_023844
17 PCCB p.Arg44Pro VAR_000271
18 PCCB p.Ser106Arg VAR_000272
19 PCCB p.Gly131Arg VAR_000273
20 PCCB p.Arg165Trp VAR_000274 rs879253815
21 PCCB p.Glu168Lys VAR_000275 rs121964960
22 PCCB p.Gly198Asp VAR_000276 rs762354873
23 PCCB p.Arg410Trp VAR_000278 rs121964959
24 PCCB p.Ala497Val VAR_000279 rs142403318
25 PCCB p.Arg512Cys VAR_000280 rs186710233
26 PCCB p.Leu519Pro VAR_000281 rs202247822
27 PCCB p.Leu17Met VAR_009080 rs200185747
28 PCCB p.Val205Asp VAR_009082
29 PCCB p.Pro228Leu VAR_009083 rs374722096
30 PCCB p.Thr428Ile VAR_009084 rs111033542
31 PCCB p.Met442Thr VAR_009085
32 PCCB p.Asn536Asp VAR_009086 rs202247823
33 PCCB p.Arg67Ser VAR_023847 rs747053913
34 PCCB p.Val107Met VAR_023848
35 PCCB p.Gly112Asp VAR_023849 rs202247818
36 PCCB p.Ala153Pro VAR_023850 rs202247819
37 PCCB p.Arg165Gln VAR_023851 rs130471404
38 PCCB p.Gly188Arg VAR_023852 rs746102997
39 PCCB p.Gly246Val VAR_023853
40 PCCB p.Ile430Leu VAR_023855
41 PCCB p.Tyr435Cys VAR_023856 rs121964961
42 PCCB p.Tyr439Cys VAR_023857 rs769521436
43 PCCB p.Ala468Thr VAR_023858 rs775563122

ClinVar genetic disease variations for Propionic Acidemia:

6 (show top 50) (show all 513)
# Gene Variation Type Significance SNP ID Assembly Location
1 PCCB NM_000532.4(PCCB): c.1228C> T (p.Arg410Trp) single nucleotide variant Pathogenic/Likely pathogenic rs121964959 GRCh37 Chromosome 3, 136046026: 136046026
2 PCCB NM_000532.4(PCCB): c.1228C> T (p.Arg410Trp) single nucleotide variant Pathogenic/Likely pathogenic rs121964959 GRCh38 Chromosome 3, 136327184: 136327184
3 PCCB PCCB, 8-BP DEL, NT3 deletion Pathogenic
4 PCCB PCCB, 12-BP INS, 14-BP DEL, NT1218 indel Pathogenic
5 PCCB NM_000532.4(PCCB): c.1173dupT (p.Val392Cysfs) duplication Pathogenic rs587776758 GRCh37 Chromosome 3, 136045727: 136045727
6 PCCB NM_000532.4(PCCB): c.1173dupT (p.Val392Cysfs) duplication Pathogenic rs587776758 GRCh38 Chromosome 3, 136326885: 136326885
7 PCCB NM_000532.4(PCCB): c.502G> A (p.Glu168Lys) single nucleotide variant Likely pathogenic rs121964960 GRCh37 Chromosome 3, 135980866: 135980866
8 PCCB NM_000532.4(PCCB): c.502G> A (p.Glu168Lys) single nucleotide variant Likely pathogenic rs121964960 GRCh38 Chromosome 3, 136262024: 136262024
9 PCCB NM_000532.4(PCCB): c.1283C> T (p.Thr428Ile) single nucleotide variant Pathogenic rs111033542 GRCh37 Chromosome 3, 136046081: 136046081
10 PCCB NM_000532.4(PCCB): c.1283C> T (p.Thr428Ile) single nucleotide variant Pathogenic rs111033542 GRCh38 Chromosome 3, 136327239: 136327239
11 PCCB NM_000532.4(PCCB): c.1539_1540insCCC (p.Ala513_Arg514insPro) insertion Pathogenic rs202247821 GRCh37 Chromosome 3, 136048787: 136048788
12 PCCB NM_000532.4(PCCB): c.1539_1540insCCC (p.Ala513_Arg514insPro) insertion Pathogenic rs202247821 GRCh38 Chromosome 3, 136329945: 136329946
13 PCCB NM_000532.4(PCCB): c.1304A> G (p.Tyr435Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121964961 GRCh37 Chromosome 3, 136046480: 136046480
14 PCCB NM_000532.4(PCCB): c.1304A> G (p.Tyr435Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121964961 GRCh38 Chromosome 3, 136327638: 136327638
15 PCCB PCCB, IVS6, A-G, +462 single nucleotide variant Pathogenic
16 PCCA PCCA, 4-BP DEL, 1824IVS, +3 deletion Pathogenic
17 PCCA PCCA, 9-BP DEL, 1771IVS, -2 deletion Pathogenic
18 PCCA PCCA, 2-BP INS, 1824IVS, +3 insertion Pathogenic
19 PCCA NM_000282.3(PCCA): c.862A> T (p.Arg288Ter) single nucleotide variant Pathogenic rs121964957 GRCh37 Chromosome 13, 100920985: 100920985
20 PCCA NM_000282.3(PCCA): c.862A> T (p.Arg288Ter) single nucleotide variant Pathogenic rs121964957 GRCh38 Chromosome 13, 100268731: 100268731
21 PCCA NM_000282.3(PCCA): c.1118T> A (p.Met373Lys) single nucleotide variant Pathogenic rs121964958 GRCh37 Chromosome 13, 100953766: 100953766
22 PCCA NM_000282.3(PCCA): c.1118T> A (p.Met373Lys) single nucleotide variant Pathogenic rs121964958 GRCh38 Chromosome 13, 100301512: 100301512
23 PCCA PCCA, IVS14, A-G, -1416 single nucleotide variant Pathogenic
24 PCCA NM_000282.3(PCCA): c.1651G> T (p.Val551Phe) single nucleotide variant Benign/Likely benign rs61749895 GRCh37 Chromosome 13, 101020733: 101020733
25 PCCA NM_000282.3(PCCA): c.1651G> T (p.Val551Phe) single nucleotide variant Benign/Likely benign rs61749895 GRCh38 Chromosome 13, 100368479: 100368479
26 PCCA NM_000282.3(PCCA): c.1685C> G (p.Ser562Ter) single nucleotide variant Pathogenic rs202247816 GRCh37 Chromosome 13, 101020767: 101020767
27 PCCA NM_000282.3(PCCA): c.1685C> G (p.Ser562Ter) single nucleotide variant Pathogenic rs202247816 GRCh38 Chromosome 13, 100368513: 100368513
28 PCCA NM_000282.3(PCCA): c.412G> A (p.Ala138Thr) single nucleotide variant Pathogenic rs202247814 GRCh37 Chromosome 13, 100807344: 100807344
29 PCCA NM_000282.3(PCCA): c.412G> A (p.Ala138Thr) single nucleotide variant Pathogenic rs202247814 GRCh38 Chromosome 13, 100155090: 100155090
30 PCCA NM_000282.3(PCCA): c.491T> C (p.Ile164Thr) single nucleotide variant Pathogenic rs202247815 GRCh37 Chromosome 13, 100861608: 100861608
31 PCCA NM_000282.3(PCCA): c.491T> C (p.Ile164Thr) single nucleotide variant Pathogenic rs202247815 GRCh38 Chromosome 13, 100209354: 100209354
32 PCCA NM_000282.3(PCCA): c.862A> G (p.Arg288Gly) single nucleotide variant Pathogenic rs121964957 GRCh37 Chromosome 13, 100920985: 100920985
33 PCCA NM_000282.3(PCCA): c.862A> G (p.Arg288Gly) single nucleotide variant Pathogenic rs121964957 GRCh38 Chromosome 13, 100268731: 100268731
34 PCCA NM_000282.3(PCCA): c.937C> T (p.Arg313Ter) single nucleotide variant Pathogenic rs138149179 GRCh37 Chromosome 13, 100925472: 100925472
35 PCCA NM_000282.3(PCCA): c.937C> T (p.Arg313Ter) single nucleotide variant Pathogenic rs138149179 GRCh38 Chromosome 13, 100273218: 100273218
36 PCCB NM_000532.4(PCCB) indel Pathogenic rs397507445 GRCh37 Chromosome 3, 136046016: 136046029
37 PCCB NM_000532.4(PCCB) indel Pathogenic rs397507445 GRCh38 Chromosome 3, 136327174: 136327187
38 PCCB NM_000532.4(PCCB): c.1490C> T (p.Ala497Val) single nucleotide variant Benign/Likely benign rs142403318 GRCh37 Chromosome 3, 136047691: 136047691
39 PCCB NM_000532.4(PCCB): c.1490C> T (p.Ala497Val) single nucleotide variant Benign/Likely benign rs142403318 GRCh38 Chromosome 3, 136328849: 136328849
40 PCCB NM_000532.4(PCCB): c.1495C> T (p.Arg499Ter) single nucleotide variant Pathogenic rs202247820 GRCh37 Chromosome 3, 136047696: 136047696
41 PCCB NM_000532.4(PCCB): c.1495C> T (p.Arg499Ter) single nucleotide variant Pathogenic rs202247820 GRCh38 Chromosome 3, 136328854: 136328854
42 PCCB NM_000532.4(PCCB): c.1534C> T (p.Arg512Cys) single nucleotide variant Pathogenic rs186710233 GRCh37 Chromosome 3, 136048782: 136048782
43 PCCB NM_000532.4(PCCB): c.1534C> T (p.Arg512Cys) single nucleotide variant Pathogenic rs186710233 GRCh38 Chromosome 3, 136329940: 136329940
44 PCCB NM_000532.4(PCCB): c.1556T> C (p.Leu519Pro) single nucleotide variant Pathogenic rs202247822 GRCh37 Chromosome 3, 136048804: 136048804
45 PCCB NM_000532.4(PCCB): c.1556T> C (p.Leu519Pro) single nucleotide variant Pathogenic rs202247822 GRCh38 Chromosome 3, 136329962: 136329962
46 PCCB NM_000532.4(PCCB): c.1606A> G (p.Asn536Asp) single nucleotide variant Pathogenic/Likely pathogenic rs202247823 GRCh37 Chromosome 3, 136048854: 136048854
47 PCCB NM_000532.4(PCCB): c.1606A> G (p.Asn536Asp) single nucleotide variant Pathogenic/Likely pathogenic rs202247823 GRCh38 Chromosome 3, 136330012: 136330012
48 PCCB NM_000532.4(PCCB): c.280G> T (p.Gly94Ter) single nucleotide variant Pathogenic rs202247817 GRCh37 Chromosome 3, 135974794: 135974794
49 PCCB NM_000532.4(PCCB): c.280G> T (p.Gly94Ter) single nucleotide variant Pathogenic rs202247817 GRCh38 Chromosome 3, 136255952: 136255952
50 PCCB NM_000532.4(PCCB): c.335G> A (p.Gly112Asp) single nucleotide variant Pathogenic rs202247818 GRCh37 Chromosome 3, 135975428: 135975428

Expression for Propionic Acidemia

Search GEO for disease gene expression data for Propionic Acidemia.

Pathways for Propionic Acidemia

Pathways related to Propionic Acidemia according to KEGG:

37
# Name Kegg Source Accession
1 Valine, leucine and isoleucine degradation hsa00280
2 Propanoate metabolism hsa00640

Pathways related to Propionic Acidemia according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.37 ACAD8 ACADSB ASS1 HLCS HMGCL MLYCD
2
Show member pathways
12.6 HMGCL MMAA PCCA PCCB
3
Show member pathways
12.4 HLCS MMAA PCCA PCCB
4
Show member pathways
11.88 ASS1 NAGS OTC PCCA PCCB
5
Show member pathways
11.6 MMAA PCCA PCCB
6 11.57 ASS1 HMGCL OTC
7
Show member pathways
11.4 MMAA PCCA PCCB
8
Show member pathways
11.1 ACAD8 ACADSB HMGCL PCCA PCCB
9 11.05 MLYCD PCCA PCCB
10 10.99 PCCA PCCB
11
Show member pathways
10.91 ASS1 NAGS OTC
12
Show member pathways
10.81 ASS1 NAGS OTC
13
Show member pathways
10.56 PCCA PCCB

GO Terms for Propionic Acidemia

Cellular components related to Propionic Acidemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.73 ACAD8 ACADSB ASS1 HLCS HMGCL MLYCD
2 mitochondrial matrix GO:0005759 9.28 ACAD8 ACADSB HMGCL MLYCD MMAA NAGS
3 peroxisomal matrix GO:0005782 9.16 HMGCL MLYCD

Biological processes related to Propionic Acidemia according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.76 ACAD8 ACADSB HMGCL MLYCD
2 cellular amino acid biosynthetic process GO:0008652 9.51 ASS1 OTC
3 liver development GO:0001889 9.5 ASS1 HMGCL OTC
4 acyl-CoA metabolic process GO:0006637 9.49 HMGCL MLYCD
5 response to zinc ion GO:0010043 9.48 ASS1 OTC
6 response to fatty acid GO:0070542 9.43 ASS1 HMGCL
7 branched-chain amino acid catabolic process GO:0009083 9.4 ACAD8 ACADSB
8 midgut development GO:0007494 9.37 ASS1 OTC
9 urea cycle GO:0000050 9.33 ASS1 NAGS OTC
10 response to biotin GO:0070781 9.26 HLCS OTC
11 biotin metabolic process GO:0006768 9.13 HLCS PCCA PCCB
12 arginine biosynthetic process GO:0006526 8.8 ASS1 NAGS OTC

Molecular functions related to Propionic Acidemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.37 ACAD8 ACADSB
2 amino acid binding GO:0016597 9.32 ASS1 OTC
3 acyl-CoA dehydrogenase activity GO:0003995 9.26 ACAD8 ACADSB
4 ligase activity GO:0016874 9.26 ASS1 HLCS PCCA PCCB
5 biotin binding GO:0009374 9.16 HLCS PCCA
6 propionyl-CoA carboxylase activity GO:0004658 8.62 PCCA PCCB

Sources for Propionic Acidemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....