PROP
MCID: PRP001
MIFTS: 70

Propionic Acidemia (PROP) malady

Genetic diseases, Rare diseases categories

Summaries for Propionic Acidemia

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Sources:
9Disease Ontology, 22Genetics Home Reference, 44NIH Rare Diseases, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 Propionic acidemia is an organic acid disorder in which the body is unable to process certain parts of proteins and lipids (fats) properly, and abnormal levels of propionic acid build up in the blood and tissues. the levels are toxic and cause serious health problems. in most cases, the features of propionic acidemia become apparent within a few days after birth and include poor feeding, vomiting, loss of appetite, weak muscle tone (hypotonia), and lack of energy (lethargy). these symptoms sometimes progress to more serious medical problems, including heart abnormalities, seizures, coma, and possibly death. it is caused by mutations in the pcca and pccb genes, which provide instructions for making a certain enzyme needed to break down proteins. it is inherited in an autosomal recessive pattern. treatment is life-long and involves appropriate dietary management (to limit intake of certain amino acids) and addressing symptoms during a metabolic crisis. last updated: 3/30/2011

MalaCards: Propionic Acidemia, also known as ketotic hyperglycinemia, is related to methylmalonic acidemia and metabolic acidosis, and has symptoms including cardiomyopathy/hypertrophic/dilated, immunodeficiency/increased susceptibility to infections/recurrent infections and intellectual deficit/mental/psychomotor retardation/learning disability. An important gene associated with Propionic Acidemia is PCCB (propionyl CoA carboxylase, beta polypeptide), and among its related pathways are glutamate degradation X and superpathway of methionine degradation. The compounds pcca and S-Methylmalonyl-CoA have been mentioned in the context of this disorder. Affiliated tissues include heart, liver and brain, and related mouse phenotypes are liver/biliary system and behavior/neurological.

Disease Ontology:9 An organic acidemia that involes a nonfunctional propionyl coa carboxylase affecting conversion of aminio acids and fats into sugar for energy.

Genetics Home Reference:22 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.

Wikipedia:66 Propionic acidemia, also known as propionic aciduria, propionyl-CoA carboxylase deficiency and ketotic... more...

Description from OMIM:48 606054

GeneReviews summary for propionic-a

Aliases & Classifications for Propionic Acidemia

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Sources:
9Disease Ontology, 66Wikipedia, 20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 11DISEASES, 46Novoseek, 50Orphanet, 63UMLS, 10diseasecard, 48OMIM, 36MeSH, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


Characteristics (Orphanet epidemiological data):

50
propionic acidemia:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Child / adolescent


Aliases & Descriptions:

propionic acidemia 9 66 20 44 21 23 22 11 46 50 63
ketotic hyperglycinemia 9 66 44 22 46 50
propionyl-coa carboxylase deficiency 9 66 44 22 50
ketotic glycinemia 9 66 44 22
propionicacidemia 10 44 22 48
hyperglycinemia with ketoacidosis and leukopenia 66 44 22
pcc deficiency 66 44 22
glycinemia, ketotic 9 44
propionic aciduria 9 50
prop 44 22
ketotic ii glycinemia 9


External Ids:

Disease Ontology9 DOID:14701
MeSH36 D056693
OMIM48 606054
MESH via Orphanet37 D056693
ICD10 via Orphanet27 E71.1
SNOMED-CT via Orphanet60 124718009, 399149003, 69080001
UMLS via Orphanet64 C0268579, C0311298

Related Diseases for Propionic Acidemia

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Sources:
18GeneCards, 19GeneDecks
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Diseases in the Propionic Acidemia family:

Pcca-Related Propionic Acidemia Pccb-Related Propionic Acidemia

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

(show top 50)    (show all 56)
idRelated DiseaseScoreTop Affiliating Genes
1methylmalonic acidemia30.6MUT, MMD, HMGCL
2metabolic acidosis30.3HMGCL, HLCS
3maple syrup urine disease30.2MMD, HMGCL, OTC
4glycine encephalopathy10.7
5leukopenia10.4
6mitochondrial dna depletion syndrome10.4
7d-glycericacidemia10.4
8neuropathy10.4
9multiple carboxylase deficiency, propionic acidemia10.4
10diabetic ketoacidosis10.3
11premature ovarian failure10.3
12pcca-related propionic acidemia10.3
13pccb-related propionic acidemia10.3
14early myoclonic encephalopathy10.3
15beta-ketothiolase deficiency10.3
16ketothiolase deficiency10.3
17atypical glycine encephalopathy10.3
18neonatal glycine encephalopathy10.3
19infantile glycine encephalopathy10.3
20acute pancreatitis10.2
21neuronitis10.2
22cystinuria10.2
23hyperlysinemia10.2
24blepharophimosis10.2
25noonan syndrome10.2
26pancytopenia10.2
27autism spectrum disorder10.2
28dementia10.2
29kidney disease10.2
30long qt syndrome10.2
31lymphopenia10.2
32neutropenia10.2
33pancreatitis10.2
34purpura10.2
35pyloric stenosis10.2
36chorea and dementia10.2
37chorea10.2
38sepsis10.2
39recurrent acute pancreatitis10.2
40cardiogenic shock10.2
41argininosuccinic aciduria10.1OTC
42biotinidase deficiency10.1HLCS
43reye syndrome10.1OTC, HMGCL
44ornithine carbamoyltransferase deficiency10.1ASS1, OTC
45urea cycle disorder10.0NAGS, ASS1
46organic acidemia10.0HLCS, HMGCL
47hyperargininemia10.0ASS1, OTC
48carbamoyl phosphate synthetase i deficiency disease10.0OTC, NAGS
49citrullinemia10.0ASS1, OTC
50orotic aciduria10.0OTC, ASS1

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



Diseases related to propionic acidemia

Symptoms for Propionic Acidemia

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

606054

Clinical features from OMIM:

606054

Symptoms:

50 (show all 9)
  • cardiomyopathy/hypertrophic/dilated
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • cardiac rhythm disorder/arrhythmia
  • hepatomegaly/liver enlargement (excluding storage disease)
  • aminoacid metabolism anomalies/aminoaciduria
  • hyperammonemia
  • hypoglycemia
  • constipation

Drugs & Therapeutics for Propionic Acidemia

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Propionic Acidemia

Drug clinical trials:

Search ClinicalTrials for Propionic Acidemia

Search NIH Clinical Center for Propionic Acidemia

Search CenterWatch for Propionic Acidemia

Genetic Tests for Propionic Acidemia

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21GeneTests, 23GTR
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Genetic tests related to Propionic Acidemia:

id Genetic test Affiliating Genes
1 Propionic Acidemia21 23

Anatomical Context for Propionic Acidemia

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34MalaCards
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MalaCards organs/tissues related to Propionic Acidemia:

34
Heart, Liver, Brain, B cells, Testes, Skin, Kidney

Animal Models for Propionic Acidemia or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Propionic Acidemia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.3OTC, HMGCL, PCCA, MUT
2MP:00053867.7PCCA, HMGCL, OTC, ASS1, NAGS, MUT
3MP:00107687.7NAGS, MUT, ASS1, PCCA, HMGCL, OTC
4MP:00053767.6MUT, ASS1, PCCA, HMGCL, OTC, NAGS

Publications for Propionic Acidemia

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Sources:
53PubMed
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Articles related to Propionic Acidemia:

(show top 50)    (show all 182)
idTitleAuthorsYear
1
Intractable metabolic acidosis in a child with propionic acidemia undergoing liver transplantation -a case report-. (24101962)
2013
2
Improved neurologic prognosis for a patient with propionic acidemia who received early living donor liver transplantation. (23151386)
2013
3
Urolithiasis in an infant with propionic acidemia: Questions. (24310822)
2013
4
Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients. (23305374)
2013
5
Propionic Acidemia and Optic Neuropathy: A Report of Two Cases. (23818179)
2013
6
Living-donor liver transplantation for propionic acidemia. (22151065)
2012
7
Cytotoxic not vasogenic edema is the cause for stroke-like episodes in propionic acidemia. (21959745)
2011
8
Fatal heart failure associated with CoQ10 and multiple OXPHOS deficiency in a child with propionic acidemia. (21329767)
2011
9
Case report: birth of healthy twins after preimplantation genetic diagnosis of propionic acidemia. (21125326)
2011
10
Changes in plasma amino acid concentrations with increasing age in patients with propionic acidemia. (19795187)
2010
11
High frequency of large genomic deletions in the PCCA gene causing propionic acidemia. (19157943)
2009
12
Stroke-like episodes in propionic acidemia caused by central focal metabolic decompensation. (19809936)
2009
13
Cerebellar hemorrhage in a patient with propionic acidemia. (19468795)
2009
14
Propionic acidemia: case report and review of neurologic sequelae. (19302949)
2009
15
Gene mutation analysis in patients with propionic acidemia]. (19099776)
2008
16
Propionic acidemia manifesting with low isoleucine generalized exfoliative dermatosis. (17958798)
2007
17
Evaluation and management of patients with propionic acidemia undergoing liver transplantation: a comprehensive review. (17032422)
2006
18
New splicing mutations in propionic acidemia. (17051315)
2006
19
Propionic acidemia revisited: a workshop report. (15583780)
2004
20
Functional analysis of PCCB mutations causing propionic acidemia based on expression studies in deficient human skin fibroblasts. (12757933)
2003
21
Neonatal onset propionic acidemia without acidosis: a case report. (12458812)
2002
22
Molecular analysis of PCCB gene in Korean patients with propionic acidemia. (12409268)
2002
23
Propionic acidemia: analysis of mutant propionyl-CoA carboxylase enzymes expressed in Escherichia coli. (12007220)
2002
24
Structure of the PCCA gene and distribution of mutations causing propionic acidemia. (11592820)
2001
25
High incidence of propionic acidemia in greenland is due to a prevalent mutation, 1540insCCC, in the gene for the beta-subunit of propionyl CoA carboxylase. (10820128)
2000
26
Genetic heterogeneity in propionic acidemia patients with alpha- subunit defects: identification of five novel mutations, one of them causing instability of the protein. (10101253)
1999
27
Infectious complications of propionic acidemia in Saudia Arabia. (9727749)
1998
28
Propionic acidemia in the newborn. (9401259)
1997
29
A novel splicing mutation in propionic acidemia associated with a tetranucleotide direct repeat in the PCCB gene. (7789958)
1995
30
Neuropathology of propionic acidemia: a report of two patients with basal ganglia lesions. (7769173)
1995
31
Correction of the metabolic defect in propionic acidemia fibroblasts by microinjection of a full-length cDNA or RNA transcript encoding the propionyl-CoA carboxylase beta subunit. (8188292)
1994
32
Propionic Acidemia (22593918)
1993
33
The molecular defect in propionic acidemia: exon skipping caused by an 8-bp deletion from an intron in the PCCB allele. (8225321)
1993
34
Genetic heterogeneity of propionic acidemia: analysis of 15 Japanese patients. (2037281)
1991
35
Two distinct mutations at the same site in the PCCB gene in propionic acidemia. (2249848)
1990
36
Metabolic studies of carnitine in a child with propionic acidemia. (2771511)
1989
37
Propionic acidemia--biochemical studies. (2495260)
1989
38
Prenatal diagnosis of propionic acidemia: amniocentesis at the 11th week of pregnancy. (2762239)
1989
39
Pseudo-cystinuria-lysinuria in neonatal propionic acidemia. (3139329)
1988
40
Cerebellar hemorrhage complicating methylmalonic and propionic acidemia. (6497733)
1984
41
Correlation between blood ammonia concentration and organic acid accumulation in isovaleric and propionic acidemia. (7054746)
1982
42
Spongy degeneration of the nervous system associated with propionic acidemia. (6965171)
1981
43
Prenatal diagnosis of propionic acidemia. (470045)
1979
44
Evaluation of biotin responsiveness in cultured fibroblasts from patients with propionic acidemia: absence of response by structurally altered carboxylases. (540014)
1979
45
The diagnosis and management of propionic acidemia. (732855)
1978
46
Propionic acidemia with severe hyperammonemia and defective glycine metabolism. (619088)
1978
47
Propionic acidemia and hyperlysinemia in a case with ornithine transcarbamylase (OTC) deficiency. (977722)
1976
48
Effect of 2-methylcitrate on citrate metabolism: implications for the management of patients with propionic acidemia and methylmalonic aciduria. (127973)
1975
49
The oxidation of glycine and propionic acid in propionic acidemia with ketotic hyperglycinemia. (5046977)
1972
50
Isolation and identification of methylcitrate, a major metabolic product of propionate in patients with propionic acidemia. (5016650)
1972

Variations for Propionic Acidemia

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Propionic Acidemia:

65 (show all 43)
id Symbol AA change Variation ID SNP ID
1PCCAp.Ala75ProVAR_009087
2PCCAp.Arg77TrpVAR_009088
3PCCAp.Ala138ThrVAR_009089
4PCCAp.Ile164ThrVAR_009090
5PCCAp.Met229LysVAR_009091
6PCCAp.Gln297ArgVAR_009092
7PCCAp.Asp368GlyVAR_009093
8PCCAp.Met373LysVAR_009094
9PCCAp.Gly379ValVAR_009095
10PCCAp.Arg399GlnVAR_009096
11PCCAp.Pro423LeuVAR_009097
12PCCAp.Trp559LeuVAR_009099rs118169528
13PCCAp.Gly631ArgVAR_009100
14PCCAp.Gly668ArgVAR_009101
15PCCAp.Gly197GluVAR_023843
16PCCAp.Cys398ArgVAR_023844
17PCCBp.Arg44ProVAR_000271
18PCCBp.Ser106ArgVAR_000272
19PCCBp.Gly131ArgVAR_000273
20PCCBp.Arg165TrpVAR_000274
21PCCBp.Glu168LysVAR_000275
22PCCBp.Gly198AspVAR_000276
23PCCBp.Arg410TrpVAR_000278
24PCCBp.Ala497ValVAR_000279rs142403318
25PCCBp.Arg512CysVAR_000280rs186710233
26PCCBp.Leu519ProVAR_000281
27PCCBp.Leu17MetVAR_009080
28PCCBp.Val205AspVAR_009082
29PCCBp.Pro228LeuVAR_009083
30PCCBp.Thr428IleVAR_009084rs28934887
31PCCBp.Met442ThrVAR_009085
32PCCBp.Asn536AspVAR_009086
33PCCBp.Arg67SerVAR_023847
34PCCBp.Val107MetVAR_023848
35PCCBp.Gly112AspVAR_023849
36PCCBp.Ala153ProVAR_023850
37PCCBp.Arg165GlnVAR_023851
38PCCBp.Gly188ArgVAR_023852
39PCCBp.Gly246ValVAR_023853
40PCCBp.Ile430LeuVAR_023855
41PCCBp.Tyr435CysVAR_023856
42PCCBp.Tyr439CysVAR_023857
43PCCBp.Ala468ThrVAR_023858

Clinvar genetic disease variations for Propionic Acidemia:

1 (show all 29)
id Gene Name Type Significance SNP ID Assembly Location
1PCCBPCCB, ARG412TRPsingle nucleotide variantPathogenic
2PCCBPCCB, 8-BP DEL, NT3deletionPathogenic
3PCCBPCCB, 12-BP INS, 14-BP DEL, NT1218indelPathogenic
4PCCBNM_000532.4(PCCB): c.1173dupT (p.Val392Cysfs)duplicationPathogenicGRCh37Chr 3, 136045727: 136045727
5PCCBNM_000532.4(PCCB): c.502G> A (p.Glu168Lys)single nucleotide variantPathogenicrs121964960GRCh37Chr 3, 135980866: 135980866
6PCCBNM_000532.4(PCCB): c.1283C> T (p.Thr428Ile)single nucleotide variantPathogenicrs111033542GRCh37Chr 3, 136046081: 136046081
7PCCBNM_000532.4(PCCB): c.1539_1540insCCC (p.Ala513_Arg514insPro)insertionPathogenicrs202247821GRCh37Chr 3, 136048787: 136048788
8PCCBNM_000532.4(PCCB): c.1304A> G (p.Tyr435Cys)single nucleotide variantPathogenicrs121964961GRCh37Chr 3, 136046480: 136046480
9PCCBPCCB, IVS6, A-G, +462single nucleotide variantPathogenic
10PCCAPCCA, 4-BP DEL, 1824IVS, +3deletionPathogenic
11PCCAPCCA, 9-BP DEL, 1771IVS, -2deletionPathogenic
12PCCAPCCA, 2-BP INS, 1824IVS, +3insertionPathogenic
13PCCANM_000282.3(PCCA): c.862A> T (p.Arg288Ter)single nucleotide variantPathogenicrs121964957GRCh37Chr 13, 100920985: 100920985
14PCCANM_000282.3(PCCA): c.1118T> A (p.Met373Lys)single nucleotide variantPathogenicrs121964958GRCh37Chr 13, 100953766: 100953766
15PCCAPCCA, IVS14, A-G, -1416single nucleotide variantPathogenic
16PCCANM_000282.3(PCCA): c.1685C> G (p.Ser562Ter)single nucleotide variantPathogenicrs202247816GRCh37Chr 13, 101020767: 101020767
17PCCANM_000282.3(PCCA): c.412G> A (p.Ala138Thr)single nucleotide variantPathogenicrs202247814GRCh37Chr 13, 100807344: 100807344
18PCCANM_000282.3(PCCA): c.491T> C (p.Ile164Thr)single nucleotide variantPathogenicrs202247815GRCh37Chr 13, 100861608: 100861608
19PCCANM_000282.3(PCCA): c.862A> G (p.Arg288Gly)single nucleotide variantPathogenicrs121964957GRCh37Chr 13, 100920985: 100920985
20PCCANM_000282.3(PCCA): c.937C> T (p.Arg313Ter)single nucleotide variantPathogenicrs138149179GRCh37Chr 13, 100925472: 100925472
21PCCBNM_000532.4(PCCB): c.1218_1231delGGGCATCATCCGGCinsTAGAGCACAGGA (p.Gly407Argfs)indelPathogenicrs397507445GRCh37Chr 3, 136046016: 136046029
22PCCBNM_000532.4(PCCB): c.1228C> T (p.Arg410Trp)single nucleotide variantPathogenicrs121964959GRCh37Chr 3, 136046026: 136046026
23PCCBNM_000532.4(PCCB): c.1495C> T (p.Arg499Ter)single nucleotide variantPathogenicrs202247820GRCh37Chr 3, 136047696: 136047696
24PCCBNM_000532.4(PCCB): c.1534C> T (p.Arg512Cys)single nucleotide variantPathogenicrs186710233GRCh37Chr 3, 136048782: 136048782
25PCCBNM_000532.4(PCCB): c.1556T> C (p.Leu519Pro)single nucleotide variantPathogenicrs202247822GRCh37Chr 3, 136048804: 136048804
26PCCBNM_000532.4(PCCB): c.1606A> G (p.Asn536Asp)single nucleotide variantPathogenicrs202247823GRCh37Chr 3, 136048854: 136048854
27PCCBNM_000532.4(PCCB): c.280G> T (p.Gly94Ter)single nucleotide variantPathogenicrs202247817GRCh37Chr 3, 135974794: 135974794
28PCCBNM_000532.4(PCCB): c.335G> A (p.Gly112Asp)single nucleotide variantPathogenicrs202247818GRCh37Chr 3, 135975428: 135975428
29PCCBNM_000532.4(PCCB): c.457G> C (p.Ala153Pro)single nucleotide variantPathogenicrs202247819GRCh37Chr 3, 135980821: 135980821

Expression for genes affiliated with Propionic Acidemia

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Propionic Acidemia

Search GEO for disease gene expression data for Propionic Acidemia.

Pathways for genes affiliated with Propionic Acidemia

About this section
Sources:
51PathCards, 39NCBI BioSystems Database, 31KEGG, 56Reactome, 52PharmGKB
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Pathways related to Propionic Acidemia according to GeneCards/GeneDecks:

(show all 11)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
glutamate biosynthesis II39
arginine biosynthesis IV39
9.7OTC, ASS1
2
Show member pathways
L-cysteine degradation I39
2-oxoisovalerate decarboxylation to isobutanoyl-CoA39
cysteine biosynthesis III (mammalia)39
2-oxobutanoate degradation I39
9.3PCCA, MUT
3
Show member pathways
citrulline-nitric oxide cycle39
arginine degradation I (arginase pathway)39
proline degradation39
glutamine degradation I39
proline biosynthesis I39
superpathway of citrulline metabolism39
proline biosynthesis II (from arginine)39
citrulline biosynthesis39
arginine degradation VI (arginase 2 pathway)39
Urea cycle and metabolism of amino groups39
asparagine biosynthesis I39
4-hydroxyproline degradation I39
citrulline degradation39
9.2NAGS, ASS1, OTC
4
Show member pathways
creatine-phosphate biosynthesis39
glycine degradation (creatine biosynthesis)39
putrescine biosynthesis III39
spermidine biosynthesis I39
tryptophan degradation via kynurenine39
spermine biosynthesis39
urea cycle39
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I39
tyrosine degradation I39
L-carnitine biosynthesis39
methylthiopropionate biosynthesis39
2-oxoglutarate decarboxylation to succinyl-CoA39
S-methyl-5-thioadenosine degradation II39
9.2NAGS, ASS1, OTC
59.0PCCA, PCCB, MUT
6
Show member pathways
8.7MUT, PCCB, PCCA, HMGCL
7
Show member pathways
beta-alanine degradation I39
valine degradation I39
pyruvate fermentation to lactate39
isoleucine degradation I39
8.7MUT, PCCB, PCCA, HMGCL
8
Show member pathways
flavin biosynthesis IV (mammalian)39
molybdenum cofactor biosynthesis39
coenzyme A biosynthesis39
thiamin salvage III39
alanine biosynthesis III39
thio-molybdenum cofactor biosynthesis39
biotin-carboxyl carrier protein assembly39
8.6HLCS, MUT, PCCB, PCCA
98.6PCCA, PCCB, MUT, HLCS
10
Show member pathways
L-serine degradation39
pentose phosphate pathway (oxidative branch)39
formaldehyde oxidation II (glutathione-dependent)39
7.7OTC, NAGS, MUT, ASS1, PCCB, PCCA
11
Show member pathways
6.3HLCS, NAGS, MUT, ASS1, UPB1, PCCB

Compounds for genes affiliated with Propionic Acidemia

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Sources:
46Novoseek, 25HMDB, 52PharmGKB, 30IUPHAR, 12DrugBank, 3BitterDB
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Compounds related to Propionic Acidemia according to GeneCards/GeneDecks:

(show all 29)
idCompoundScoreTop Affiliating Genes
1pcca4610.2PCCB, PCCA
2S-Methylmalonyl-CoA2510.2PCCB, PCCA
3Methylmalonyl-CoA2510.2PCCB, PCCA
4propionyl coa4610.2PCCB, PCCA
5sodium phenylbutyrate5210.0ASS1, OTC
6delta(1)pyrroline-5-carboxylate4610.0OTC, ASS1
7l-citrulline30 1210.9OTC, ASS1
8ammonium469.9OTC, ASS1
9n-acetylglutamate469.9OTC, NAGS
10benzoate469.9NAGS, OTC
11citrulline46 2510.8OTC, ASS1
12phosphoenolpyruvate46 1210.7OTC, ASS1
13acyl-coa469.6OTC, HLCS
14sodium benzoate52 310.6OTC, ASS1, NAGS
15Phosphate259.6OTC, PCCA, PCCB
16phenylacetic acid52 46 2511.6NAGS, ASS1, OTC
17carbamoyl phosphate469.5NAGS, ASS1, OTC
18ornithine46 2510.5OTC, ASS1, NAGS
19pyruvate469.5OTC, ASS1, HLCS
20urea46 25 1211.4OTC, ASS1, NAGS
21acetyl-coa46 2510.4HLCS, NAGS, HMGCL
22Adenosine triphosphate25 1210.2HLCS, ASS1, PCCB, PCCA
23lysine469.2HLCS, PCCA, OTC
24leucine469.2HLCS, ASS1, HMGCL, OTC
25pyrimidine46 2510.1OTC, UPB1
26carnitine469.1HLCS, MUT, OTC
27propionate469.1PCCA, UPB1, MUT
28biotin46 25 1211.0PCCA, PCCB, MUT, HLCS
29atp46 309.6MUT, ASS1, PCCA, OTC

GO Terms for genes affiliated with Propionic Acidemia

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17Gene Ontology
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Cellular components related to Propionic Acidemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytosolGO:0058298.4PCCA, PCCB, UPB1, ASS1, HLCS
2mitochondrionGO:0057397.8OTC, HLCS, MUT, PCCB, HMGCL
3mitochondrial matrixGO:0057597.7PCCB, NAGS, MUT, PCCA, OTC, HMGCL

Biological processes related to Propionic Acidemia according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1liver developmentGO:0018899.7OTC, HMGCL
2biotin metabolic processGO:0067689.6HLCS, PCCB, PCCA
3response to biotinGO:0707819.5OTC, HLCS
4arginine biosynthetic processGO:0065269.4NAGS, ASS1, OTC
5urea cycleGO:0000509.3OTC, ASS1, NAGS
6short-chain fatty acid catabolic processGO:0196269.3PCCA, PCCB, MUT
7fatty acid beta-oxidationGO:0066359.0MUT, PCCB, PCCA
8cellular nitrogen compound metabolic processGO:0346418.9OTC, ASS1, NAGS
9cellular lipid metabolic processGO:0442558.8HMGCL, PCCA, PCCB, MUT
10water-soluble vitamin metabolic processGO:0067678.7HLCS, MUT, PCCB, PCCA
11vitamin metabolic processGO:0067668.7HLCS, MUT, PCCB, PCCA
12small molecule metabolic processGO:0442816.6OTC, HLCS, NAGS, MUT, ASS1, UPB1

Molecular functions related to Propionic Acidemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1propionyl-CoA carboxylase activityGO:0046589.8PCCA, PCCB
2biotin bindingGO:0093749.4PCCA, HLCS
3ATP bindingGO:0055249.0PCCA, PCCB, ASS1, HLCS

Products for genes affiliated with Propionic Acidemia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Propionic Acidemia

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet