PA-1
MCID: PRP001
MIFTS: 61

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 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 Methylcobalamin have been mentioned in the context of this disorder. Affiliated tissues include heart, liver and brain, 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 88)
# Related Disease Score Top Affiliating Genes
1 3-methylcrotonyl-coa carboxylase deficiency 30.5 ACADSB HMGCL
2 maple syrup urine disease 30.1 HADHA HMGCL OTC
3 spasticity, childhood-onset, with hyperglycinemia 12.1
4 d-glyceric aciduria 11.5
5 atypical glycine encephalopathy 11.4
6 teratocarcinoma 10.6
7 encephalopathy 10.5
8 methylmalonic acidemia 10.4
9 neuropathy 10.3
10 ovarian cancer 10.3
11 glutathione synthetase deficiency 10.3
12 mitochondrial dna depletion syndrome 10.3
13 optic nerve disease 10.3
14 postpartum psychosis 10.2 ASS1 OTC
15 autism 10.2
16 biotin deficiency 10.2 HLCS PCCB
17 achondroplasia 10.2
18 x-linked intellectual disability, shashi type 10.2
19 biotinidase deficiency 10.2 HLCS PCCB
20 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 10.2 NAGS OTC
21 orotic aciduria 10.2 ASS1 OTC
22 neural tube defects 10.2
23 alpha-methylacetoacetic aciduria 10.2
24 neural tube defects, folate-sensitive 10.2
25 epileptic encephalopathy, early infantile, 3 10.2
26 epileptic encephalopathy, early infantile, 4 10.2
27 early myoclonic encephalopathy 10.2
28 premature ovarian failure 1 10.1
29 diabetes mellitus, ketosis-prone 10.1
30 dilated cardiomyopathy 10.1
31 cardiac arrest 10.1
32 epilepsy 10.1
33 long qt syndrome 10.1
34 carbamoyl phosphate synthetase i deficiency, hyperammonemia due to 10.1 ASS1 NAGS OTC
35 citrullinemia, classic 10.1 ASS1 NAGS OTC
36 carbonic anhydrase va deficiency, hyperammonemia due to 10.1 ASS1 NAGS OTC
37 urea cycle disorder 10.1 ASS1 NAGS OTC
38 argininemia 10.1 ASS1 NAGS OTC
39 ornithine transcarbamylase deficiency, hyperammonemia due to 10.1 ASS1 NAGS OTC
40 argininosuccinic aciduria 10.1 ASS1 NAGS OTC
41 amino acid metabolic disorder 10.1 MMAA PCCA PCCB
42 teratoma 10.0
43 malignant teratoma 10.0
44 anorectal anomalies 10.0
45 atrial standstill 1 10.0
46 epicanthus 10.0
47 noonan syndrome 1 10.0
48 cystinuria 10.0
49 glycine encephalopathy 10.0
50 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 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 40)
# 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 poor appetite 33 HP:0004396
35 muscular hypotonia of the trunk 33 HP:0008936
36 limb hypertonia 33 HP:0002509
37 acute encephalopathy 33 HP:0006846
38 hyperglycinemia 33 HP:0002154
39 hyperglycinuria 33 HP:0003108
40 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
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

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 26)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydroxocobalamin Approved Phase 3 13422-51-0 11953898 15589840
2
Methylcobalamin Approved, Experimental, Investigational Phase 3 13422-55-4
3
Metronidazole Approved Phase 3 443-48-1 4173
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 12 Phase 3
8 Vitamin B Complex Phase 3
9 Vitamins Phase 3
10 carnitine Phase 3
11 Vitamin B12 Phase 3
12 Vitamin B7 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 3184-13-2, 70-26-8 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 Chelating Agents Phase 1
20 glutamine Phase 1
21 Anticoagulants Phase 1
22 Calcium, Dietary Phase 1
23 Citrate Phase 1
24
Isoleucine Approved, Investigational, Nutraceutical Not Applicable 73-32-5, 443-79-8 6306
25 valine Not Applicable
26 leucine 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 30 PCCA PCCB

Anatomical Context for Propionic Acidemia

MalaCards organs/tissues related to Propionic Acidemia:

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

Publications for Propionic Acidemia

Articles related to Propionic Acidemia:

(show top 50) (show all 275)
# 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
Spectrum of mutations underlying Propionic acidemia and further insight into a genotype-phenotype correlation for the common mutation in Saudi Arabia. ( 30705822 )
2019
3
Systematic literature review and meta-analysis on the epidemiology of propionic acidemia. ( 30760309 )
2019
4
Nutrition management guideline for propionic acidemia: An evidence- and consensus-based approach. ( 30879957 )
2019
5
Long-term continuous N-carbamylglutamate treatment in frequently decompensated propionic acidemia: a case report. ( 29679984 )
2018
6
Import of TAT-conjugated propionyl-CoA carboxylase using models of propionic acidemia. ( 29378828 )
2018
7
Propionate enters GABAergic neurons, inhibits GABA transaminase, causes GABA accumulation and lethargy in a model of propionic acidemia. ( 29339464 )
2018
8
Novel Heterozygous PCCA Mutations with Fatal Outcome in Propionic Acidemia. ( 29978829 )
2018
9
Domino Liver Transplantation from a Child with Propionic Acidemia to a Child with Idiopathic Fulminant Hepatic Failure. ( 29725551 )
2018
10
Metabolic cardiomyopathy from propionic acidemia precipitating cardiac arrest in a 25-year-old man. ( 30037889 )
2018
11
Epilepsy in Propionic Acidemia: Case Series of 14 Saudi Patients. ( 30014764 )
2018
12
Incidence of maple syrup urine disease, propionic acidemia, and methylmalonic aciduria from newborn screening data. ( 30023298 )
2018
13
Liver Transplantation for Propionic Acidemia and Methylmalonic Acidemia: Perioperative Management and Clinical Outcomes. ( 30080956 )
2018
14
Axonal peripheral neuropathy in propionic acidemia: A severe side effect of long-term metronidazole therapy. ( 30120134 )
2018
15
Long-term outcomes in Amish patients diagnosed with propionic acidemia. ( 30013935 )
2018
16
A Novel PCCA Mutation in a Patient With Late-Onset Propionic Acidemia Identified by Genetic Diagnosis Panel. ( 30186825 )
2018
17
Unique neuroradiological findings in propionic acidemia. ( 30233761 )
2018
18
The Role of Liver Transplantation in Propionic Acidemia. ( 30242960 )
2018
19
Identification of 34 novel mutations in propionic acidemia: Functional characterization of missense variants and phenotype associations. ( 30274917 )
2018
20
Dietary Management of Propionic Acidemia: Parent Caregiver Perspectives and Practices. ( 30357861 )
2018
21
Liver Transplantation for Propionic Acidemia: Providing a Basic Solution. ( 30375139 )
2018
22
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
23
Acute Illness Protocol for Organic Acidemias: Methylmalonic Acidemia and Propionic Acidemia. ( 28141776 )
2017
24
Antenatal nephromegaly and propionic acidemia: a case report. ( 28359305 )
2017
25
Dysregulated miRNAs and their pathogenic implications for the neurometabolic disease propionic acidemia. ( 28720782 )
2017
26
Treatment with antioxidants ameliorates oxidative damage in a mouse model of propionic acidemia. ( 28774709 )
2017
27
Generation and characterization of a human iPSC line from a patient with propionic acidemia due to defects in the PCCA gene. ( 28925364 )
2017
28
Long QT syndrome diagnosed in two sisters with propionic acidemia: a case report. ( 28820736 )
2017
29
Possible mechanisms for sensorineural hearing loss and deafness in patients with propionic acidemia. ( 28193246 )
2017
30
Anaplerotic therapy in propionic acidemia. ( 28712602 )
2017
31
Autism spectrum disorders in propionic acidemia patients. ( 28856627 )
2017
32
Veno-Venous Extracorporeal Membrane Oxygenation for Continuous Renal Replacement in a Neonate with Propionic Acidemia. ( 28298669 )
2017
33
Central Venous Catheter-Related Bloodstream Infection with<i>Kocuria kristinae</i>in a Patient with Propionic Acidemia. ( 28194286 )
2017
34
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
35
Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine. ( 27900673 )
2017
36
Propionic acidemia as a cause of adult-onset dilated cardiomyopathy. ( 28853722 )
2017
37
Dietary practices in propionic acidemia: A European survey. ( 29021961 )
2017
38
Liver Transplantation for Propionic Acidemia. ( 26881497 )
2017
39
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
40
Successful pregnancy and delivery in a woman with propionic acidemia from the Amish community. ( 28649556 )
2016
41
Continuous Venovenous Hemodialysis Via Extracorporeal Membrane Oxygenation Pump for Treatment of Hyperammonemia Secondary to Propionic Acidemia in Monochorionic Diamniotic Twin Boys. ( 27283461 )
2016
42
Seventeen Novel Mutations in PCCA and PCCB Genes in Indian Propionic Acidemia Patients, and Their Outcomes. ( 27227689 )
2016
43
Successful Treatment of Bacillus cereus Bacteremia in a Patient with Propionic Acidemia. ( 27195164 )
2016
44
Autism in patients with propionic acidemia. ( 27825584 )
2016
45
Recapitulation of metabolic defects in a model of propionic acidemia using patient-derived primary hepatocytes. ( 26740382 )
2016
46
Anaesthetic considerations for liver transplantation in propionic acidemia. ( 26962256 )
2016
47
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
48
Propionic acidemia: a Turkish case report of a successful pregnancy, labor and lactation. ( 27089410 )
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.990dupT (p.Glu331Terfs) duplication Pathogenic rs786200983 GRCh37 Chromosome 3, 136035806: 136035806
2 PCCB NM_000532.4(PCCB): c.990dupT (p.Glu331Terfs) duplication Pathogenic rs786200983 GRCh38 Chromosome 3, 136316964: 136316964
3 PCCA NM_000282.3(PCCA): c.775_779delCTAAT (p.Leu259Argfs) deletion Pathogenic/Likely pathogenic rs794726976 GRCh37 Chromosome 13, 100915041: 100915045
4 PCCA NM_000282.3(PCCA): c.775_779delCTAAT (p.Leu259Argfs) deletion Pathogenic/Likely pathogenic rs794726976 GRCh38 Chromosome 13, 100262787: 100262791
5 PCCB NM_000532.4(PCCB): c.1398+1G> T single nucleotide variant Pathogenic/Likely pathogenic rs794727092 GRCh37 Chromosome 3, 136046575: 136046575
6 PCCB NM_000532.4(PCCB): c.1398+1G> T single nucleotide variant Pathogenic/Likely pathogenic rs794727092 GRCh38 Chromosome 3, 136327733: 136327733
7 PCCA NM_000282.3(PCCA): c.1429+7A> G single nucleotide variant Benign/Likely benign rs16957276 GRCh37 Chromosome 13, 100962169: 100962169
8 PCCA NM_000282.3(PCCA): c.1429+7A> G single nucleotide variant Benign/Likely benign rs16957276 GRCh38 Chromosome 13, 100309915: 100309915
9 PCCA NM_000282.3(PCCA): c.1788G> A (p.Trp596Ter) single nucleotide variant Pathogenic/Likely pathogenic rs776496862 GRCh37 Chromosome 13, 101077928: 101077928
10 PCCA NM_000282.3(PCCA): c.1788G> A (p.Trp596Ter) single nucleotide variant Pathogenic/Likely pathogenic rs776496862 GRCh38 Chromosome 13, 100425674: 100425674
11 PCCA NM_000282.3(PCCA): c.184-17_184-16delGT deletion Benign rs111778723 GRCh37 Chromosome 13, 100764078: 100764079
12 PCCA NM_000282.3(PCCA): c.184-17_184-16delGT deletion Benign rs111778723 GRCh38 Chromosome 13, 100111824: 100111825
13 PCCA NM_000282.3(PCCA): c.223G> C (p.Ala75Pro) single nucleotide variant Uncertain significance rs794727479 GRCh37 Chromosome 13, 100764134: 100764134
14 PCCA NM_000282.3(PCCA): c.223G> C (p.Ala75Pro) single nucleotide variant Uncertain significance rs794727479 GRCh38 Chromosome 13, 100111880: 100111880
15 PCCB NM_000532.4(PCCB): c.418_429dupAAGATCTGCAAA (p.Lys143_Ile144insLysIleCysLys) duplication Pathogenic rs797044729 GRCh37 Chromosome 3, 135979366: 135979377
16 PCCB NM_000532.4(PCCB): c.418_429dupAAGATCTGCAAA (p.Lys143_Ile144insLysIleCysLys) duplication Pathogenic rs797044729 GRCh38 Chromosome 3, 136260524: 136260535
17 PCCB NM_000532.4(PCCB): c.683C> T (p.Pro228Leu) single nucleotide variant Pathogenic/Likely pathogenic rs374722096 GRCh37 Chromosome 3, 136012626: 136012626
18 PCCB NM_000532.4(PCCB): c.683C> T (p.Pro228Leu) single nucleotide variant Pathogenic/Likely pathogenic rs374722096 GRCh38 Chromosome 3, 136293784: 136293784
19 PCCA NM_000282.3(PCCA): c.627A> G (p.Ala209=) single nucleotide variant Benign/Likely benign rs538229 GRCh37 Chromosome 13, 100888122: 100888122
20 PCCA NM_000282.3(PCCA): c.627A> G (p.Ala209=) single nucleotide variant Benign/Likely benign rs538229 GRCh38 Chromosome 13, 100235868: 100235868
21 PCCB NM_000532.4(PCCB): c.815G> A (p.Arg272Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs150555106 GRCh37 Chromosome 3, 136016845: 136016845
22 PCCB NM_000532.4(PCCB): c.815G> A (p.Arg272Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs150555106 GRCh38 Chromosome 3, 136298003: 136298003
23 PCCB NM_000532.4(PCCB): c.563G> C (p.Gly188Ala) single nucleotide variant Uncertain significance rs796052024 GRCh38 Chromosome 3, 136283856: 136283856
24 PCCB NM_000532.4(PCCB): c.563G> C (p.Gly188Ala) single nucleotide variant Uncertain significance rs796052024 GRCh37 Chromosome 3, 136002698: 136002698
25 PCCB NM_000532.4(PCCB): c.611C> T (p.Ala204Val) single nucleotide variant Uncertain significance rs760499581 GRCh38 Chromosome 3, 136283904: 136283904
26 PCCB NM_000532.4(PCCB): c.611C> T (p.Ala204Val) single nucleotide variant Uncertain significance rs760499581 GRCh37 Chromosome 3, 136002746: 136002746
27 PCCB NM_000532.4(PCCB): c.890G> A (p.Arg297His) single nucleotide variant Uncertain significance rs147379583 GRCh38 Chromosome 3, 136301035: 136301035
28 PCCB NM_000532.4(PCCB): c.890G> A (p.Arg297His) single nucleotide variant Uncertain significance rs147379583 GRCh37 Chromosome 3, 136019877: 136019877
29 PCCB NM_000532.4(PCCB): c.942C> A (p.Tyr314Ter) single nucleotide variant Pathogenic/Likely pathogenic rs572246667 GRCh38 Chromosome 3, 136301087: 136301087
30 PCCB NM_000532.4(PCCB): c.942C> A (p.Tyr314Ter) single nucleotide variant Pathogenic/Likely pathogenic rs572246667 GRCh37 Chromosome 3, 136019929: 136019929
31 PCCA NM_000282.3(PCCA): c.328G> C (p.Val110Leu) single nucleotide variant Uncertain significance rs150788587 GRCh38 Chromosome 13, 100155006: 100155006
32 PCCA NM_000282.3(PCCA): c.328G> C (p.Val110Leu) single nucleotide variant Uncertain significance rs150788587 GRCh37 Chromosome 13, 100807260: 100807260
33 PCCA NM_000282.3(PCCA): c.425G> A (p.Gly142Asp) single nucleotide variant Pathogenic rs796052019 GRCh38 Chromosome 13, 100157297: 100157297
34 PCCA NM_000282.3(PCCA): c.425G> A (p.Gly142Asp) single nucleotide variant Pathogenic rs796052019 GRCh37 Chromosome 13, 100809551: 100809551
35 PCCA NM_000282.3(PCCA): c.1891G> C (p.Gly631Arg) single nucleotide variant Likely pathogenic rs796052018 GRCh38 Chromosome 13, 100449297: 100449297
36 PCCA NM_000282.3(PCCA): c.1891G> C (p.Gly631Arg) single nucleotide variant Likely pathogenic rs796052018 GRCh37 Chromosome 13, 101101551: 101101551
37 PCCB NM_000532.4(PCCB): c.183+5G> A single nucleotide variant Pathogenic rs879253813 GRCh38 Chromosome 3, 136250563: 136250563
38 PCCB NM_000532.4(PCCB): c.183+5G> A single nucleotide variant Pathogenic rs879253813 GRCh37 Chromosome 3, 135969405: 135969405
39 PCCB NM_000532.4(PCCB): c.372+2T> C single nucleotide variant Pathogenic/Likely pathogenic rs879253814 GRCh38 Chromosome 3, 136256625: 136256625
40 PCCB NM_000532.4(PCCB): c.372+2T> C single nucleotide variant Pathogenic/Likely pathogenic rs879253814 GRCh37 Chromosome 3, 135975467: 135975467
41 PCCB NM_000532.4(PCCB): c.493C> T (p.Arg165Trp) single nucleotide variant Pathogenic/Likely pathogenic rs879253815 GRCh38 Chromosome 3, 136262015: 136262015
42 PCCB NM_000532.4(PCCB): c.493C> T (p.Arg165Trp) single nucleotide variant Pathogenic/Likely pathogenic rs879253815 GRCh37 Chromosome 3, 135980857: 135980857
43 PCCB NM_000532.4(PCCB): c.1210G> A (p.Glu404Lys) single nucleotide variant Pathogenic rs777027944 GRCh38 Chromosome 3, 136327166: 136327166
44 PCCB NM_000532.4(PCCB): c.1210G> A (p.Glu404Lys) single nucleotide variant Pathogenic rs777027944 GRCh37 Chromosome 3, 136046008: 136046008
45 PCCB NM_000532.4(PCCB): c.1498+2T> C single nucleotide variant Pathogenic rs879253816 GRCh38 Chromosome 3, 136328859: 136328859
46 PCCB NM_000532.4(PCCB): c.1498+2T> C single nucleotide variant Pathogenic rs879253816 GRCh37 Chromosome 3, 136047701: 136047701
47 PCCB NM_000532.4(PCCB): c.1540C> T (p.Arg514Ter) single nucleotide variant Pathogenic/Likely pathogenic rs749908889 GRCh38 Chromosome 3, 136329946: 136329946
48 PCCB NM_000532.4(PCCB): c.1540C> T (p.Arg514Ter) single nucleotide variant Pathogenic/Likely pathogenic rs749908889 GRCh37 Chromosome 3, 136048788: 136048788
49 PCCA NM_000282.3(PCCA): c.105+1G> A single nucleotide variant Pathogenic rs879253804 GRCh37 Chromosome 13, 100741480: 100741480
50 PCCA NM_000282.3(PCCA): c.105+1G> A single nucleotide variant Pathogenic rs879253804 GRCh38 Chromosome 13, 100089226: 100089226

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
13.74 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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