PA-2
MCID: PRP001
MIFTS: 60

Propionic Acidemia (PA-2)

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

Aliases & Classifications for Propionic Acidemia

MalaCards integrated aliases for Propionic Acidemia:

Name: Propionic Acidemia 58 12 25 54 26 60 38 56 45 15 74
Propionyl-Coa Carboxylase Deficiency 58 12 54 26 60 30 6
Ketotic Hyperglycinemia 58 12 54 26 60 56
Propionicacidemia 58 54 26 13 6
Pcc Deficiency 58 77 54 26
Hyperglycinemia with Ketoacidosis and Leukopenia 58 54 26
Glycinemia, Ketotic 58 12 54
Ketotic Glycinemia 12 54 26
Acidemia, Propionic 77 41
Propionic Aciduria 12 60
Prop 54 26
Pa-1 76 17
Propionic Acidemia Type Ii 76
Propionic Acidemia Type I 76
Hyperglycinemia, Ketotic 77
Ketotic Ii Glycinemia 12
Propionicaciduria 74
Pa-2 76

Characteristics:

Orphanet epidemiological data:

60
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:

58
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:

33
propionic acidemia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Inborn errors of metabolism


Summaries for Propionic Acidemia

NIH Rare Diseases : 54 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 maple syrup urine disease, 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 Hydroxocobalamin and Metronidazole have been mentioned in the context of this disorder. Affiliated tissues include kidney, brain and skin, and related phenotypes are constipation and hypoglycemia

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 : 26 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 : 76 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 : 77 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 93)
# Related Disease Score Top Affiliating Genes
1 3-methylcrotonyl-coa carboxylase deficiency 30.5 ACADSB HMGCL
2 maple syrup urine disease 30.2 HADHA HMGCL OTC
3 spasticity, childhood-onset, with hyperglycinemia 12.3
4 d-glyceric aciduria 11.5
5 atypical glycine encephalopathy 11.4
6 teratocarcinoma 10.6
7 methylmalonic acidemia 10.5
8 encephalopathy 10.5
9 ovarian cancer 10.4
10 neuropathy 10.4
11 glutathione synthetase deficiency 10.3
12 mitochondrial dna depletion syndrome 10.3
13 achondroplasia 10.3
14 optic nerve disease 10.3
15 autism 10.2
16 postpartum psychosis 10.2 ASS1 OTC
17 biotin deficiency 10.2 HLCS PCCB
18 biotinidase deficiency 10.2 HLCS PCCB
19 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 10.2 NAGS OTC
20 orotic aciduria 10.2 ASS1 OTC
21 neural tube defects 10.2
22 alpha-methylacetoacetic aciduria 10.2
23 neural tube defects, folate-sensitive 10.2
24 epileptic encephalopathy, early infantile, 3 10.2
25 epileptic encephalopathy, early infantile, 4 10.2
26 multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia 10.2
27 hyperglycinemia, lactic acidosis, and seizures 10.2
28 glycine encephalopathy with normal serum glycine 10.2
29 early myoclonic encephalopathy 10.2
30 premature ovarian failure 1 10.2
31 diabetes mellitus, ketosis-prone 10.2
32 dilated cardiomyopathy 10.2
33 cardiac arrest 10.2
34 epilepsy 10.2
35 long qt syndrome 10.2
36 carbamoyl phosphate synthetase i deficiency, hyperammonemia due to 10.1 ASS1 NAGS OTC
37 citrullinemia, classic 10.1 ASS1 NAGS OTC
38 carbonic anhydrase va deficiency, hyperammonemia due to 10.1 ASS1 NAGS OTC
39 urea cycle disorder 10.1 ASS1 NAGS OTC
40 argininemia 10.1 ASS1 NAGS OTC
41 ornithine transcarbamylase deficiency, hyperammonemia due to 10.1 ASS1 NAGS OTC
42 argininosuccinic aciduria 10.1 ASS1 NAGS OTC
43 amino acid metabolic disorder 10.1 MMAA PCCA PCCB
44 teratoma 10.1
45 malignant teratoma 10.1
46 anorectal anomalies 10.0
47 atrial standstill 1 10.0
48 epicanthus 10.0
49 noonan syndrome 1 10.0
50 cystinuria 10.0

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



Diseases related to Propionic Acidemia

Symptoms & Phenotypes for Propionic Acidemia

Human phenotypes related to Propionic Acidemia:

60 33 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 constipation 60 33 hallmark (90%) Very frequent (99-80%) HP:0002019
2 hypoglycemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001943
3 hyperammonemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001987
4 organic aciduria 60 33 hallmark (90%) Very frequent (99-80%) HP:0001992
5 propionyl-coa carboxylase deficiency 60 33 hallmark (90%) Very frequent (99-80%) HP:0003353
6 intellectual disability 60 33 frequent (33%) Frequent (79-30%) HP:0001249
7 global developmental delay 60 33 frequent (33%) Frequent (79-30%) HP:0001263
8 hepatomegaly 60 33 frequent (33%) Frequent (79-30%) HP:0002240
9 arrhythmia 60 33 frequent (33%) Frequent (79-30%) HP:0011675
10 abnormality of immune system physiology 60 33 frequent (33%) Frequent (79-30%) HP:0010978
11 cardiomyopathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0001638
12 cerebellar hemorrhage 33 occasional (7.5%) HP:0011695
13 seizures 33 HP:0001250
14 failure to thrive 33 HP:0001508
15 short stature 33 HP:0004322
16 feeding difficulties in infancy 33 HP:0008872
17 dehydration 33 HP:0001944
18 vomiting 33 HP:0002013
19 osteoporosis 33 HP:0000939
20 anemia 33 HP:0001903
21 pancytopenia 33 HP:0001876
22 dystonia 33 HP:0001332
23 thrombocytopenia 33 HP:0001873
24 pancreatitis 33 HP:0001733
25 apnea 33 HP:0002104
26 lactic acidosis 33 HP:0003128
27 coma 33 HP:0001259
28 neutropenia 33 HP:0001875
29 eczema 33 HP:0000964
30 lethargy 33 HP:0001254
31 metabolic acidosis 33 HP:0001942
32 cerebral atrophy 33 HP:0002059
33 tachypnea 33 HP:0002789
34 acute encephalopathy 33 HP:0006846
35 poor appetite 33 HP:0004396
36 muscular hypotonia of the trunk 33 HP:0008936
37 limb hypertonia 33 HP:0002509
38 hyperglycinemia 33 HP:0002154
39 hyperglycinuria 33 HP:0003108
40 psychomotor retardation 33 HP:0025356
41 increased level of hippuric acid in urine 33 HP:0410066

Symptoms via clinical synopsis from OMIM:

58
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
acute encephalopathy
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

UMLS symptoms related to Propionic Acidemia:


seizures, vomiting, apnea, lethargy, decrease in appetite

Drugs & Therapeutics for Propionic Acidemia

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

(show all 27)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydroxocobalamin Approved Phase 3 13422-51-0 15589840 11953898
2
Metronidazole Approved Phase 3 443-48-1 4173
3
Methylcobalamin Approved, Experimental, Investigational Phase 3 13422-55-4
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 6857388
7 Vitamin B Complex Phase 3
8 Vitamin B 12 Phase 3
9 Vitamins Phase 3
10 Vitamin B12 Phase 3
11 Vitamin B7 Phase 3
12 carnitine Phase 3
13
carbamide peroxide Approved Phase 2 124-43-6
14
Glutamic Acid Approved, Nutraceutical Phase 2,Phase 1 56-86-0 33032
15
Ornithine Approved, Nutraceutical Phase 2,Phase 1 70-26-8, 3184-13-2 6262
16
Sodium Citrate Approved, Investigational Phase 1 68-04-2
17
Calcium Approved, Nutraceutical Phase 1 7440-70-2 271
18
Citric Acid Approved, Nutraceutical, Vet_approved Phase 1 77-92-9 311
19 Anticoagulants Phase 1
20 Calcium, Dietary Phase 1
21 Chelating Agents Phase 1
22 glutamine Phase 1
23 Citrate Phase 1
24
Isoleucine Approved, Investigational, Nutraceutical Not Applicable 73-32-5, 443-79-8 6306
25 leucine Not Applicable
26 valine Not Applicable
27 Liver Extracts

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Carglumic Acid in Methylmalonic Acidemia and Propionic Acidemia Completed 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 Active, not 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
10 Energy Metabolism in Branched-chain Organic Acidemias Completed NCT03917212

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 30 PCCA PCCB

Anatomical Context for Propionic Acidemia

MalaCards organs/tissues related to Propionic Acidemia:

42
Kidney, Brain, Skin, Testes, B Cells, Liver

Publications for Propionic Acidemia

Articles related to Propionic Acidemia:

(show top 50) (show all 283)
# Title Authors Year
1
Demethylation of the hypoxia induction factor 1 binding site of GPX3 at excess blood ammonia in propionic acidemia. ( 30753843 )
2019
2
Methylmalonic acidemia/propionic acidemia - the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups. ( 30940196 )
2019
3
Dietary Management of Propionic Acidemia: Parent Caregiver Perspectives and Practices. ( 30357861 )
2019
4
The Role of Liver Transplantation in Propionic Acidemia. ( 30375139 )
2019
5
Spectrum of mutations underlying Propionic acidemia and further insight into a genotype-phenotype correlation for the common mutation in Saudi Arabia. ( 30705822 )
2019
6
Systematic literature review and meta-analysis on the epidemiology of propionic acidemia. ( 30760309 )
2019
7
Nutrition management guideline for propionic acidemia: An evidence- and consensus-based approach. ( 30879957 )
2019
8
Metabolic cardiomyopathy from propionic acidemia precipitating cardiac arrest in a 25-year-old man. ( 30037889 )
2018
9
Epilepsy in Propionic Acidemia: Case Series of 14 Saudi Patients. ( 30014764 )
2018
10
Incidence of maple syrup urine disease, propionic acidemia, and methylmalonic aciduria from newborn screening data. ( 30023298 )
2018
11
Liver Transplantation for Propionic Acidemia and Methylmalonic Acidemia: Perioperative Management and Clinical Outcomes. ( 30080956 )
2018
12
Axonal peripheral neuropathy in propionic acidemia: A severe side effect of long-term metronidazole therapy. ( 30120134 )
2018
13
Autism spectrum disorders in propionic acidemia patients. ( 28856627 )
2018
14
Propionate enters GABAergic neurons, inhibits GABA transaminase, causes GABA accumulation and lethargy in a model of propionic acidemia. ( 29339464 )
2018
15
Import of TAT-Conjugated Propionyl Coenzyme A Carboxylase Using Models of Propionic Acidemia. ( 29378828 )
2018
16
Long-term continuous N-carbamylglutamate treatment in frequently decompensated propionic acidemia: a case report. ( 29679984 )
2018
17
Domino Liver Transplantation from a Child with Propionic Acidemia to a Child with Idiopathic Fulminant Hepatic Failure. ( 29725551 )
2018
18
Novel Heterozygous PCCA Mutations with Fatal Outcome in Propionic Acidemia. ( 29978829 )
2018
19
Long-term outcomes in Amish patients diagnosed with propionic acidemia. ( 30013935 )
2018
20
A Novel PCCA Mutation in a Patient With Late-Onset Propionic Acidemia Identified by Genetic Diagnosis Panel. ( 30186825 )
2018
21
Unique neuroradiological findings in propionic acidemia. ( 30233761 )
2018
22
The Role of Liver Transplantation in Propionic Acidemia. ( 30242960 )
2018
23
Identification of 34 novel mutations in propionic acidemia: Functional characterization of missense variants and phenotype associations. ( 30274917 )
2018
24
Propionic acidemia as a cause of adult-onset dilated cardiomyopathy. ( 28853722 )
2017
25
Long QT syndrome diagnosed in two sisters with propionic acidemia: a case report. ( 28820736 )
2017
26
Acute Illness Protocol for Organic Acidemias: Methylmalonic Acidemia and Propionic Acidemia. ( 28141776 )
2017
27
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
28
Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine. ( 27900673 )
2017
29
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
30
Possible mechanisms for sensorineural hearing loss and deafness in patients with propionic acidemia. ( 28193246 )
2017
31
Central Venous Catheter-Related Bloodstream Infection with Kocuria kristinae in a Patient with Propionic Acidemia. ( 28194286 )
2017
32
Veno-Venous Extracorporeal Membrane Oxygenation for Continuous Renal Replacement in a Neonate with Propionic Acidemia. ( 28298669 )
2017
33
Antenatal nephromegaly and propionic acidemia: a case report. ( 28359305 )
2017
34
Anaplerotic therapy in propionic acidemia. ( 28712602 )
2017
35
Dysregulated miRNAs and their pathogenic implications for the neurometabolic disease propionic acidemia. ( 28720782 )
2017
36
Treatment with antioxidants ameliorates oxidative damage in a mouse model of propionic acidemia. ( 28774709 )
2017
37
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
38
Generation and characterization of a human iPSC line from a patient with propionic acidemia due to defects in the PCCA gene. ( 28925364 )
2017
39
Dietary practices in propionic acidemia: A European survey. ( 29021961 )
2017
40
Liver Transplantation for Propionic Acidemia. ( 26881497 )
2017
41
Optic neuropathy in methylmalonic acidemia and propionic acidemia. ( 26209586 )
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
Successful Treatment of Bacillus cereus Bacteremia in a Patient with Propionic Acidemia. ( 27195164 )
2016
47
Seventeen Novel Mutations in PCCA and PCCB Genes in Indian Propionic Acidemia Patients, and Their Outcomes. ( 27227689 )
2016
48
Continuous Venovenous Hemodialysis Via Extracorporeal Membrane Oxygenation Pump for Treatment of Hyperammonemia Secondary to Propionic Acidemia in Monochorionic Diamniotic Twin Boys. ( 27283461 )
2016
49
Antibody-mediated rejection after ABO-incompatible pediatric living donor liver transplantation for propionic acidemia: A case report. ( 27436684 )
2016
50
Towards the development of an enzyme replacement therapy for the metabolic disorder propionic acidemia. ( 27504265 )
2016

Variations for Propionic Acidemia

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

76 (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 511)
# 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:

38
# 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 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.75 ACADSB ASS1 HADHA HLCS HMGCL MMAA
2
Show member pathways
12.6 HADHA HMGCL MMAA PCCA PCCB
3
Show member pathways
12.42 HLCS MMAA PCCA PCCB
4
Show member pathways
11.62 MMAA PCCA PCCB
5 11.59 ASS1 HMGCL OTC
6
Show member pathways
11.43 ACADSB HADHA HMGCL PCCA PCCB
7
Show member pathways
11.42 ASS1 HADHA NAGS OTC PCCA PCCB
8
Show member pathways
11.28 HADHA MMAA PCCA PCCB
9
Show member pathways
11.12 HADHA HMGCL
10 11.09 HADHA PCCA PCCB
11 11 PCCA PCCB
12
Show member pathways
10.91 ASS1 NAGS OTC
13
Show member pathways
10.81 ASS1 NAGS OTC
14 10.61 ACADSB HADHA

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 mitochondrial matrix GO:0005759 9.5 ACADSB HMGCL MMAA NAGS OTC PCCA
2 mitochondrion GO:0005739 9.36 ACADSB ASS1 HADHA HLCS HMGCL MMAA

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

# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.58 ASS1 HADHA OTC
2 liver development GO:0001889 9.5 ASS1 HMGCL OTC
3 cellular amino acid biosynthetic process GO:0008652 9.48 ASS1 OTC
4 response to zinc ion GO:0010043 9.46 ASS1 OTC
5 response to fatty acid GO:0070542 9.43 ASS1 HMGCL
6 midgut development GO:0007494 9.37 ASS1 OTC
7 urea cycle GO:0000050 9.33 ASS1 NAGS OTC
8 response to biotin GO:0070781 9.26 HLCS OTC
9 biotin metabolic process GO:0006768 9.13 HLCS PCCA PCCB
10 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 amino acid binding GO:0016597 9.32 ASS1 OTC
2 fatty-acyl-CoA binding GO:0000062 9.26 HADHA HMGCL
3 ligase activity GO:0016874 9.26 ASS1 HLCS PCCA PCCB
4 biotin binding GO:0009374 9.16 HLCS PCCA
5 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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