PA-1
MCID: PRP084
MIFTS: 58

Propionicacidemia (PA-1) malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Propionicacidemia

Aliases & Descriptions for Propionicacidemia:

Name: Propionicacidemia 54 50 24 25 13
Propionic Acidemia 54 12 71 23 50 24 25 56 29 52 42 14 69
Ketotic Hyperglycinemia 12 50 25 56 52
Propionyl-Coa Carboxylase Deficiency 12 50 25 56
Ketotic Glycinemia 12 50 25
Pcc Deficiency 71 50 25
Hyperglycinemia with Ketoacidosis and Leukopenia 50 25
Glycinemia, Ketotic 12 50
Propionic Aciduria 12 56
Prop 50 25
Propionic Acidemia Type Ii 66
Propionic Acidemia Type I 66
Ketotic Ii Glycinemia 12
Propionicaciduria 69
Pa-1 66
Pa-2 66

Characteristics:

Orphanet epidemiological data:

56
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;

HPO:

32
propionicacidemia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Inborn errors of metabolism


External Ids:

OMIM 54 606054
Disease Ontology 12 DOID:14701
ICD10 33 E71.121
MeSH 42 D056693
NCIt 47 C85030
Orphanet 56 ORPHA35
MESH via Orphanet 43 D056693
UMLS via Orphanet 70 C0268579 C0311298
ICD10 via Orphanet 34 E71.1

Summaries for Propionicacidemia

NIH Rare Diseases : 50 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. last updated: 12/2/2015

MalaCards based summary : Propionicacidemia, also known as propionic acidemia, is related to glycine encephalopathy and d-glycericacidemia, and has symptoms including constipation, intellectual disability and global developmental delay. An important gene associated with Propionicacidemia is PCCA (Propionyl-CoA Carboxylase Alpha Subunit), and among its related pathways/superpathways are Metabolism and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). The drugs Metronidazole and Hydroxocobalamin have been mentioned in the context of this disorder. Affiliated tissues include heart and skin, and related phenotypes are liver/biliary system and mortality/aging

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

Description from OMIM: 606054
GeneReviews: NBK92946

Related Diseases for Propionicacidemia

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

(show all 43)
id Related Disease Score Top Affiliating Genes
1 glycine encephalopathy 12.2
2 d-glycericacidemia 11.2
3 atypical glycine encephalopathy 11.0
4 neonatal glycine encephalopathy 11.0
5 infantile glycine encephalopathy 11.0
6 pcca-related propionic acidemia 10.8
7 pccb-related propionic acidemia 10.8
8 teratocarcinoma 10.3
9 pulmonary hypertension, neonatal 10.2 ASS1 OTC
10 encephalopathy 10.2
11 myosclerosis, congenital 10.2 HMGCL OTC
12 cardiomyopathy, dilated, 1j 10.2 ASS1 OTC
13 first-degree atrioventricular block 10.2 HLCS PCCB
14 aneurysm, intracranial berry, 1 10.2 ASS1 OTC
15 bardet-biedl syndrome 18 10.2 ACAD8 ACADSB
16 c syndrome 10.1 ASS1 OTC
17 chromosome xp21 deletion syndrome 10.1 ASS1 OTC
18 carnitine acetyltransferase deficiency 10.1 ASS1 OTC
19 cystinosis, ocular nonnephropathic 10.1 ACADVL HMGCL
20 cataract 16, multiple types 10.1 ACAD8 ACADVL
21 waldenstrom macroglobulinemia 10.0 ACADVL ASS1 OTC
22 calcaneonavicular coalition 10.0 HMGCL MMAA MUT
23 muscular dystrophy, limb-girdle, type ic 9.9 ACADM HLCS PCCB
24 gum cancer 9.9 ACADM HLCS PCCB
25 ketothiolase deficiency 9.9
26 neural tube defects 9.9
27 early myoclonic encephalopathy 9.9
28 hermansky-pudlak syndrome 9 9.9 ACADM ACADSB HMGCL
29 mitochondrial phosphate carrier deficiency 9.9 ACAD8 ACADM ACADSB
30 malignant cardiac peripheral nerve sheath neoplasm 9.8 ACADM ASS1 HMGCL OTC
31 maple syrup urine disease, mild variant 9.8 ACADM ACADVL
32 atrial fibrillation, familial, 4 9.8 ACADM ACADVL HLCS
33 teratoma 9.8
34 malignant teratoma 9.8
35 ovarian cancer 9.8
36 acute insulin response 9.8 ACAD8 ACADM ACADVL
37 obesity, morbid, due to leptin receptor deficiency 9.7 ACADM ACADVL HMGCL OTC
38 fibular hypoplasia 9.7 ACADM ACADVL
39 borderline glaucoma 9.6 ACADM MMAA MUT PCCA PCCB
40 hyperekplexia 2, autosomal recessive 9.6 ACADM HMGCL MMAA MUT OTC
41 vitamin metabolic disorder 9.5 ACAD8 ACADM ACADSB ACADVL HMGCL
42 pain disorder 9.4 ACADM HLCS HMGCL MMAA MUT PCCA
43 retinitis pigmentosa 4, autosomal dominant or recessive 8.4 ACAD8 ACADM ACADSB ACADVL ASS1 HLCS

Graphical network of the top 20 diseases related to Propionicacidemia:



Diseases related to Propionicacidemia

Symptoms & Phenotypes for Propionicacidemia

Symptoms by clinical synopsis from OMIM:

606054

Clinical features from OMIM:

606054

Human phenotypes related to Propionicacidemia:

56 32 (show all 39)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 constipation 56 32 Very frequent (99-80%) HP:0002019
2 intellectual disability 56 32 Frequent (79-30%) HP:0001249
3 global developmental delay 56 32 Frequent (79-30%) HP:0001263
4 hepatomegaly 56 32 Frequent (79-30%) HP:0002240
5 arrhythmia 56 32 Frequent (79-30%) HP:0011675
6 hypoglycemia 56 32 Very frequent (99-80%) HP:0001943
7 cardiomyopathy 56 32 Occasional (29-5%) HP:0001638
8 abnormality of immune system physiology 56 32 Frequent (79-30%) HP:0010978
9 hyperammonemia 56 32 Very frequent (99-80%) HP:0001987
10 organic aciduria 56 32 Very frequent (99-80%) HP:0001992
11 propionyl-coa carboxylase deficiency 56 32 Very frequent (99-80%) HP:0003353
12 seizures 32 HP:0001250
13 vomiting 32 HP:0002013
14 lethargy 32 HP:0001254
15 dystonia 32 HP:0001332
16 failure to thrive 32 HP:0001508
17 short stature 32 HP:0004322
18 feeding difficulties in infancy 32 HP:0008872
19 dehydration 32 HP:0001944
20 osteoporosis 32 HP:0000939
21 anemia 32 HP:0001903
22 pancytopenia 32 HP:0001876
23 thrombocytopenia 32 HP:0001873
24 pancreatitis 32 HP:0001733
25 apnea 32 HP:0002104
26 lactic acidosis 32 HP:0003128
27 coma 32 HP:0001259
28 neutropenia 32 HP:0001875
29 eczema 32 HP:0000964
30 metabolic acidosis 32 HP:0001942
31 cerebral atrophy 32 HP:0002059
32 tachypnea 32 HP:0002789
33 poor appetite 32 HP:0004396
34 muscular hypotonia of the trunk 32 HP:0008936
35 hyperglycinemia 32 HP:0002154
36 acute encephalopathy 32 HP:0006846
37 limb hypertonia 32 HP:0002509
38 hyperglycinuria 32 HP:0003108
39 cerebellar hemorrhage 32 HP:0011695

UMLS symptoms related to Propionicacidemia:


lethargy, seizures, vomiting

MGI Mouse Phenotypes related to Propionicacidemia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 9.5 PCCA ACAD8 ACADM ACADVL HMGCL MUT
2 mortality/aging MP:0010768 9.28 ACADM ACADVL ASS1 HMGCL MUT OTC

Drugs & Therapeutics for Propionicacidemia

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

(show all 20)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metronidazole Approved Phase 3 443-48-1 4173
2
Hydroxocobalamin Approved Phase 3 13422-51-0 11953898 5460373 44475014
3
Biotin Approved, Nutraceutical Phase 3 58-85-5 171548
4
Cyanocobalamin Approved, Nutraceutical Phase 3 68-19-9 44176380
5 Vitamin B 12 Phase 3
6 Vitamin B Complex Phase 3
7 Vitamins Phase 3
8 carnitine Nutraceutical Phase 3
9 Vitamin B12 Nutraceutical Phase 3
10
Cobalamin Nutraceutical Phase 3 13408-78-1 6438156
11
Methylcobalamin Experimental, Nutraceutical Phase 3 13422-55-4
12 Vitamin B7 Nutraceutical Phase 3
13
Ornithine Nutraceutical Phase 2,Phase 1 3184-13-2 6262 389
14 Glutamic Acid Nutraceutical Phase 2,Phase 1
15 Chelating Agents Phase 1
16 Anticoagulants Phase 1
17 Calcium, Dietary Phase 1
18 glutamine Nutraceutical Phase 1
19 Citrate Nutraceutical Phase 1
20
Citric Acid Nutraceutical, Vet_approved Phase 1 77-92-9 311

Interventional clinical trials:


id Name Status NCT ID Phase
1 Carglumic Acid in Methylmalonic Acidemia and Propionic Acidemia Active, not recruiting NCT02426775 Phase 3
2 Pilot Study For Hypothermia Treatment In Hyperammonemic Encephalopathy In Neonates And Very Young Infants Completed NCT01624311 Phase 2
3 Short-term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia Recruiting NCT01599286 Phase 2
4 Long-term Outcome of N-Carbamylglutamate Treatment in Propionic Acidemia and Methylmalonic Acidemia Terminated NCT01597440 Phase 2
5 Increasing Ureagenesis in Inborn Errors of Metabolism With N-Carbamylglutamate Withdrawn NCT01341379 Phase 2
6 Anaplerotic Therapy in Propionic Acidemia Completed NCT00645879 Phase 1
7 Natural History, Physiology, Microbiome and Biochemistry Studies of Propionic Acidemia Recruiting NCT02890342
8 Review of Charts From Amish/Mennonite Variant PA Patients Recruiting NCT03159026

Search NIH Clinical Center for Propionicacidemia

Cochrane evidence based reviews: propionic acidemia

Genetic Tests for Propionicacidemia

Genetic tests related to Propionicacidemia:

id Genetic test Affiliating Genes
1 Propionic Acidemia 29 24

Anatomical Context for Propionicacidemia

MalaCards organs/tissues related to Propionicacidemia:

39
Heart, Skin

Publications for Propionicacidemia

Articles related to Propionicacidemia:

id Title Authors Year
1
Propionicacidemia: absence of alpha-chain mRNA in fibroblasts from patients of the pccA complementation group. ( 3687944 )
1987
2
Propionate metabolism by cultured skin fibroblasts from normal individuals and patients with methylmalonicaciduria and propionicacidemia. ( 7295302 )
1981
3
Biotin-response organicaciduria. Multiple carboxylase defects and complementation studies with propionicacidemia in cultured fibroblasts. ( 115903 )
1979
4
Propionicacidemia (ketotic hyperglycinemia): dietary treatment resulting in normal growth and development. ( 4815259 )
1974
5
Activation of propionyl-CoA carboxylase in skin fibroblasts from a patient with propionicacidemia. ( 5131830 )
1971
6
Propionicacidemia, a new inborn error of metabolism. ( 5727920 )
1968

Variations for Propionicacidemia

UniProtKB/Swiss-Prot genetic disease variations for Propionicacidemia:

66 (show all 43)
id 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
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
11 PCCA p.Pro423Leu VAR_009097
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
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 rs28934887
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
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 Propionicacidemia:

6 (show top 50) (show all 71)
id Gene Variation Type Significance SNP ID Assembly Location
1 PCCB NM_000532.4(PCCB): c.1228C> T (p.Arg410Trp) single nucleotide variant Pathogenic rs121964959 GRCh37 Chromosome 3, 136046026: 136046026
2 PCCB PCCB, 8-BP DEL, NT3 deletion Pathogenic
3 PCCB PCCB, 12-BP INS, 14-BP DEL, NT1218 indel Pathogenic
4 PCCB NM_000532.4(PCCB): c.1173dupT (p.Val392Cysfs) duplication Pathogenic rs587776758 GRCh37 Chromosome 3, 136045727: 136045727
5 PCCB NM_000532.4(PCCB): c.502G> A (p.Glu168Lys) single nucleotide variant Pathogenic rs121964960 GRCh37 Chromosome 3, 135980866: 135980866
6 PCCB NM_000532.4(PCCB): c.1283C> T (p.Thr428Ile) single nucleotide variant Pathogenic rs111033542 GRCh37 Chromosome 3, 136046081: 136046081
7 PCCB NM_000532.4(PCCB): c.1539_1540insCCC (p.Ala513_Arg514insPro) insertion Pathogenic rs202247821 GRCh37 Chromosome 3, 136048787: 136048788
8 PCCB NM_000532.4(PCCB): c.1304A> G (p.Tyr435Cys) single nucleotide variant Pathogenic rs121964961 GRCh37 Chromosome 3, 136046480: 136046480
9 PCCB PCCB, IVS6, A-G, +462 single nucleotide variant Pathogenic
10 PCCA PCCA, 4-BP DEL, 1824IVS, +3 deletion Pathogenic
11 PCCA PCCA, 9-BP DEL, 1771IVS, -2 deletion Pathogenic
12 PCCA PCCA, 2-BP INS, 1824IVS, +3 insertion Pathogenic
13 PCCA NM_000282.3(PCCA): c.862A> T (p.Arg288Ter) single nucleotide variant Pathogenic rs121964957 GRCh37 Chromosome 13, 100920985: 100920985
14 PCCA NM_000282.3(PCCA): c.1118T> A (p.Met373Lys) single nucleotide variant Pathogenic rs121964958 GRCh37 Chromosome 13, 100953766: 100953766
15 PCCA PCCA, IVS14, A-G, -1416 single nucleotide variant Pathogenic
16 PCCA NM_000282.3(PCCA): c.1685C> G (p.Ser562Ter) single nucleotide variant Pathogenic rs202247816 GRCh37 Chromosome 13, 101020767: 101020767
17 PCCA NM_000282.3(PCCA): c.412G> A (p.Ala138Thr) single nucleotide variant Pathogenic rs202247814 GRCh37 Chromosome 13, 100807344: 100807344
18 PCCA NM_000282.3(PCCA): c.491T> C (p.Ile164Thr) single nucleotide variant Pathogenic rs202247815 GRCh37 Chromosome 13, 100861608: 100861608
19 PCCA NM_000282.3(PCCA): c.862A> G (p.Arg288Gly) single nucleotide variant Pathogenic rs121964957 GRCh37 Chromosome 13, 100920985: 100920985
20 PCCA NM_000282.3(PCCA): c.937C> T (p.Arg313Ter) single nucleotide variant Pathogenic rs138149179 GRCh37 Chromosome 13, 100925472: 100925472
21 PCCB NM_000532.4(PCCB) indel Pathogenic rs397507445 GRCh37 Chromosome 3, 136046016: 136046029
22 PCCB NM_000532.4(PCCB): c.1495C> T (p.Arg499Ter) single nucleotide variant Pathogenic rs202247820 GRCh37 Chromosome 3, 136047696: 136047696
23 PCCB NM_000532.4(PCCB): c.1534C> T (p.Arg512Cys) single nucleotide variant Pathogenic rs186710233 GRCh37 Chromosome 3, 136048782: 136048782
24 PCCB NM_000532.4(PCCB): c.1556T> C (p.Leu519Pro) single nucleotide variant Pathogenic rs202247822 GRCh37 Chromosome 3, 136048804: 136048804
25 PCCB NM_000532.4(PCCB): c.1606A> G (p.Asn536Asp) single nucleotide variant Pathogenic rs202247823 GRCh37 Chromosome 3, 136048854: 136048854
26 PCCB NM_000532.4(PCCB): c.280G> T (p.Gly94Ter) single nucleotide variant Pathogenic rs202247817 GRCh37 Chromosome 3, 135974794: 135974794
27 PCCB NM_000532.4(PCCB): c.335G> A (p.Gly112Asp) single nucleotide variant Pathogenic rs202247818 GRCh37 Chromosome 3, 135975428: 135975428
28 PCCB NM_000532.4(PCCB): c.457G> C (p.Ala153Pro) single nucleotide variant Pathogenic rs202247819 GRCh37 Chromosome 3, 135980821: 135980821
29 PCCA NM_000282.3(PCCA): c.1023dupT (p.Lys342Terfs) duplication Pathogenic rs398123297 GRCh37 Chromosome 13, 100925558: 100925558
30 PCCB NM_000532.4(PCCB): c.183+1G> A single nucleotide variant Pathogenic rs398123460 GRCh37 Chromosome 3, 135969401: 135969401
31 PCCB NM_000532.4(PCCB): c.2T> A (p.Met1Lys) single nucleotide variant Pathogenic rs398123462 GRCh37 Chromosome 3, 135969219: 135969219
32 PCCB NM_000532.4(PCCB): c.386_387delTTinsAAC (p.Phe129Terfs) indel Pathogenic rs398123463 GRCh37 Chromosome 3, 135979334: 135979335
33 PCCB NM_000532.4(PCCB): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs398123464 GRCh37 Chromosome 3, 135969220: 135969220
34 PCCB NG_008939.1: g.883_8934del8052 deletion Pathogenic GRCh37 Chromosome 3, 135965049: 135973100
35 PCCB NM_000532.4(PCCB): c.990dupT (p.Glu331Terfs) duplication Pathogenic rs786200983 GRCh37 Chromosome 3, 136035806: 136035806
36 PCCA NM_000282.3(PCCA): c.775_779delCTAAT (p.Leu259Argfs) deletion Pathogenic rs794726976 GRCh37 Chromosome 13, 100915041: 100915045
37 PCCB NM_000532.4(PCCB): c.1398+1G> T single nucleotide variant Pathogenic rs794727092 GRCh37 Chromosome 3, 136046575: 136046575
38 PCCA NM_000282.3(PCCA): c.1788G> A (p.Trp596Ter) single nucleotide variant Pathogenic rs776496862 GRCh37 Chromosome 13, 101077928: 101077928
39 PCCA NM_000282.3(PCCA): c.1899+4_1899+7delAGTA deletion Pathogenic rs794727334 GRCh37 Chromosome 13, 101101563: 101101566
40 PCCA NM_000282.3(PCCA): c.232-1G> A single nucleotide variant Pathogenic rs794727620 GRCh37 Chromosome 13, 100764246: 100764246
41 PCCB NM_000532.4(PCCB): c.418_429dupAAGATCTGCAAA (p.Lys143_Ile144insLysIleCysLys) duplication Pathogenic rs797044729 GRCh37 Chromosome 3, 135979366: 135979377
42 PCCB NM_000532.4(PCCB): c.683C> T (p.Pro228Leu) single nucleotide variant Pathogenic rs374722096 GRCh37 Chromosome 3, 136012626: 136012626
43 PCCB NM_000532.4(PCCB): c.942C> A (p.Tyr314Ter) single nucleotide variant Pathogenic rs572246667 GRCh37 Chromosome 3, 136019929: 136019929
44 PCCA NM_000282.3(PCCA): c.425G> A (p.Gly142Asp) single nucleotide variant Pathogenic/Likely pathogenic rs796052019 GRCh38 Chromosome 13, 100157297: 100157297
45 PCCB NM_000532.4(PCCB): c.183+5G> A single nucleotide variant Pathogenic rs879253813 GRCh38 Chromosome 3, 136250563: 136250563
46 PCCB NM_000532.4(PCCB): c.372+2T> C single nucleotide variant Pathogenic rs879253814 GRCh38 Chromosome 3, 136256625: 136256625
47 PCCB NM_000532.4(PCCB): c.493C> T (p.Arg165Trp) single nucleotide variant Pathogenic rs879253815 GRCh38 Chromosome 3, 136262015: 136262015
48 PCCB NM_000532.4(PCCB): c.1210G> A (p.Glu404Lys) single nucleotide variant Pathogenic rs777027944 GRCh38 Chromosome 3, 136327166: 136327166
49 PCCB NM_000532.4(PCCB): c.1498+2T> C single nucleotide variant Pathogenic rs879253816 GRCh38 Chromosome 3, 136328859: 136328859
50 PCCB NM_000532.4(PCCB): c.1540C> T (p.Arg514Ter) single nucleotide variant Pathogenic rs749908889 GRCh38 Chromosome 3, 136329946: 136329946

Expression for Propionicacidemia

Search GEO for disease gene expression data for Propionicacidemia.

Pathways for Propionicacidemia

Pathways related to Propionicacidemia according to GeneCards Suite gene sharing:

(show all 17)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.81 ACAD8 ACADM ACADSB ACADVL ASS1 HLCS
2
Show member pathways
12.68 ACADM ACADVL HMGCL MMAA MUT PCCA
3
Show member pathways
12.48 HLCS MMAA MUT PCCA PCCB
4
Show member pathways
11.95 ACADM ASS1 MUT OTC PCCA PCCB
5
Show member pathways
11.72 MMAA MUT PCCA PCCB
6
Show member pathways
11.65 ACADM ACADSB ACADVL
7 11.61 ACADM ASS1 HMGCL MUT OTC
8
Show member pathways
11.25 ACADM ACADVL MMAA MUT PCCA PCCB
9
Show member pathways
11.24 ACAD8 ACADM ACADSB HMGCL MUT PCCA
10 11.21 ACADM ACADVL
11 11.13 ACADM MUT PCCA PCCB
12 11.08 MUT PCCA PCCB
13
Show member pathways
11.06 ASS1 OTC
14
Show member pathways
10.93 ASS1 OTC
15 10.88 MMAA MUT
16
Show member pathways
10.6 PCCA PCCB
17
Show member pathways
10.1 MMAA MUT

GO Terms for Propionicacidemia

Cellular components related to Propionicacidemia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.73 ACAD8 ACADM ACADSB ACADVL ASS1 HLCS
2 mitochondrial matrix GO:0005759 9.32 ACAD8 ACADM ACADSB ACADVL HMGCL MMAA

Biological processes related to Propionicacidemia according to GeneCards Suite gene sharing:

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.77 ACAD8 ACADM ACADSB ACADVL HMGCL
2 fatty acid metabolic process GO:0006631 9.67 ACADM ACADSB ACADVL
3 metabolic process GO:0008152 9.63 ACAD8 ACADM ACADSB ACADVL HLCS MUT
4 fatty acid beta-oxidation GO:0006635 9.55 ACADM ACADVL
5 cellular amino acid biosynthetic process GO:0008652 9.54 ASS1 OTC
6 response to cold GO:0009409 9.52 ACADM ACADVL
7 response to starvation GO:0042594 9.51 ACADM HMGCL
8 cobalamin metabolic process GO:0009235 9.48 MMAA MUT
9 branched-chain amino acid catabolic process GO:0009083 9.46 ACAD8 ACADSB
10 urea cycle GO:0000050 9.43 ASS1 OTC
11 fatty acid beta-oxidation using acyl-CoA dehydrogenase GO:0033539 9.4 ACADM ACADVL
12 arginine biosynthetic process GO:0006526 9.32 ASS1 OTC
13 response to biotin GO:0070781 9.26 HLCS OTC
14 biotin metabolic process GO:0006768 9.13 HLCS PCCA PCCB
15 short-chain fatty acid catabolic process GO:0019626 8.92 MMAA MUT PCCA PCCB

Molecular functions related to Propionicacidemia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.73 ACAD8 ACADM ACADSB ACADVL
2 ligase activity GO:0016874 9.62 ASS1 HLCS PCCA PCCB
3 flavin adenine dinucleotide binding GO:0050660 9.46 ACAD8 ACADM ACADSB ACADVL
4 amino acid binding GO:0016597 9.4 ASS1 OTC
5 biotin binding GO:0009374 9.37 HLCS PCCA
6 propionyl-CoA carboxylase activity GO:0004658 9.26 PCCA PCCB
7 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.26 ACAD8 ACADM ACADSB ACADVL
8 acyl-CoA dehydrogenase activity GO:0003995 8.92 ACAD8 ACADM ACADSB ACADVL

Sources for Propionicacidemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
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