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	propionic acidemia

Disease ID	123
Disease	propionic acidemia
Definition	elevated accumulation and excretion of glycine accompanied by ketosis that is secondary to methylmalonicacidemia, isovalericacidemia and other organic acidemias, as distinguished from nonketotic hyperglycinemia.
Synonym	acidemia propionic acidemia propionics acidemia, propionic acidemias, propionic carboxylase deficiencies, propionyl-coa carboxylase deficiency, propionyl-coa deficiencies, pcc deficiencies, propionyl-coa carboxylase deficiency of propionyl-coa carboxylase deficiency of propionyl-coa carboxylase (disorder) deficiency of propionyl-coenzyme a carboxylase deficiency of propionyl-coenzyme a carboxylase (disorder) deficiency, pcc deficiency, propionyl-coa carboxylase glycinemia, ketotic glycinemias, ketotic hyperglycinaemia with ketosis and leucopenia hyperglycinemia with ketoacidosis and leukopenia hyperglycinemia with ketosis and leukopenia hyperglycinemia, ketotic hyperglycinemias, ketotic ketotic glycinaemia ketotic glycinemia ketotic glycinemias ketotic hyperglycinaemia ketotic hyperglycinemia ketotic hyperglycinemias pcc - propionyl-coa carboxylase deficiency pcc deficiencies pcc deficiency propionic acidaemia propionic acidemia (disorder) propionic acidemia [disease/finding] propionic acidemia, nos propionic acidemias propionic, acidemia propionicacidemia propionicacidemias propionics, acidemia propionyl coa carboxylase deficiency propionyl-coa carboxylase deficiencies propionyl-coa carboxylase deficiency propionyl-coa carboxylase deficiency (disorder) propionyl-coa carboxylase deficiency (disorder) [ambiguous] propionyl-coa carboxylase deficiency [ambiguous] propionyl-coa carboxylase deficiency [dup] propionyl-coa carboxylase deficiency [dup] (disorder)
Orphanet	ORPHANET:35
OMIM	OMIM:606054
DOID	DOID:14701
ICD10	ICD10CM:E71.121
UMLS	C0268579
MeSH	D056693
SNOMED-CT	SNOMEDCT_US_2016_09_01:124718009;SNOMEDCT_US_2016_09_01:69080001
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:15) C0014544 \| epilepsy \| 2 C0878544 \| cardiomyopathy \| 2 C1096063 \| intractable epilepsy \| 1 C0017601 \| glaucoma \| 1 C0042373 \| vascular disease \| 1 C0268579 \| propionyl-coa carboxylase deficiency \| 1 C0004352 \| autism \| 1 C0020456 \| hyperglycemia \| 1 C0270855 \| early myoclonic encephalopathy \| 1 C0029132 \| optic neuropathy \| 1 C0033975 \| psychosis \| 1 C0268583 \| methylmalonic acidemia \| 1 C0442874 \| neuropathy \| 1 C0020302 \| juvenile glaucoma \| 1 C0020538 \| hypertensive vascular disease \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 5095 \| PCCA \| CLINVAR;CTD_human;GHR;ORPHANET;UNIPROT 5096 \| PCCB \| CLINVAR;CTD_human;GHR;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:34) 36 \| ACADSB \| 4.017 \| DISEASES 37 \| ACADVL \| 1.717 \| DISEASES 229 \| ALDOB \| 1.569 \| DISEASES 353 \| APRT \| 1.848 \| DISEASES 53335 \| BCL11A \| 1.623 \| DISEASES 664 \| BNIP3 \| 1.36 \| DISEASES 875 \| CBS \| 2.157 \| DISEASES 10675 \| CSPG5 \| 2.239 \| DISEASES 1491 \| CTH \| 1.55 \| DISEASES 5476 \| CTSA \| 1.138 \| DISEASES 1644 \| DDC \| 2.311 \| DISEASES 1806 \| DPYD \| 1.078 \| DISEASES 2108 \| ETFA \| 2.098 \| DISEASES 2271 \| FH \| 1.456 \| DISEASES 668 \| FOXL2 \| 1.252 \| DISEASES 2592 \| GALT \| 1.891 \| DISEASES 3030 \| HADHA \| 1.879 \| DISEASES 3155 \| HMGCL \| 4.814 \| DISEASES 3712 \| IVD \| 1.241 \| DISEASES 3753 \| KCNE1 \| 2.151 \| DISEASES 55788 \| LMBRD1 \| 2.357 \| DISEASES 219541 \| MED19 \| 2.33 \| DISEASES 326625 \| MMAB \| 2.347 \| DISEASES 25974 \| MMACHC \| 2.017 \| DISEASES 4522 \| MTHFD1 \| 1.925 \| DISEASES 4948 \| OCA2 \| 1.454 \| DISEASES 5091 \| PC \| 2.617 \| DISEASES 5095 \| PCCA \| 7.659 \| DISEASES 5096 \| PCCB \| 7.912 \| DISEASES 56980 \| PRDM10 \| 1.06 \| DISEASES 10165 \| SLC25A13 \| 3.495 \| DISEASES 55553 \| SOX6 \| 2.073 \| DISEASES 6430 \| SRSF5 \| 2.561 \| DISEASES 51733 \| UPB1 \| 2.981 \| DISEASES
Locus	Symbol \| Locus(Total Locus:2) PCCB \| 3q22.3 PCCA \| 13q32.3

Disease ID	123
Disease	propionic acidemia
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:11) HP:0001263 \| Global developmental delay HP:0010978 \| Abnormality of immune system physiology HP:0011675 \| Arrhythmia HP:0001987 \| Hyperammonemia HP:0002019 \| Constipation HP:0001943 \| Hypoglycemia HP:0001249 \| Intellectual disability HP:0003353 \| Propionyl-CoA carboxylase deficiency HP:0002240 \| Hepatomegaly HP:0001992 \| Organic aciduria HP:0001638 \| Cardiomyopathy
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:16) HP:0001298 \| Encephalopathy \| 3 HP:0001638 \| Cardiomyopathy \| 2 HP:0000501 \| Glaucoma \| 1 HP:0000717 \| Autism \| 1 HP:0001987 \| Hyperammonemia \| 1 HP:0002367 \| Visual hallucinations \| 1 HP:0002912 \| Methylmalonic acidemia \| 1 HP:0003353 \| Propionyl-CoA carboxylase deficiency \| 1 HP:0001289 \| Confusion \| 1 HP:0001138 \| Damaged optic nerve \| 1 HP:0003074 \| High blood glucose \| 1 HP:0200134 \| Epileptic encephalopathy \| 1 HP:0001250 \| Seizures \| 1 HP:0012156 \| Hemophagocytosis \| 1 HP:0001941 \| acidemia \| 1 HP:0000709 \| Psychosis \| 1

Disease ID	123
Disease	propionic acidemia
Manually Symptom	UMLS \| Name(Total Manually Symptoms:9) C1963164 \| lymphopenia C0878544 \| cardiomyopathy C0267937 \| recurrent acute pancreatitis C0036572 \| seizures C0030312 \| pancytopenia C0029124 \| optic nerve atrophy C0021308 \| infarction C0019080 \| hemorrhage C0014544 \| epilepsy
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:2) C0085584 \| encephalopathy \| 3 C0878544 \| cardiomyopathy \| 2

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:40)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs111033542	NA	5096	PCCB	umls:C0268579	CLINVAR	NA	0.485428837	NA	PCCB	3	136327239	C	T
rs118169528	15059621	5095	PCCA	umls:C0268579	UNIPROT	Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia.	0.485157396	2004	PCCA	13	100368504	G	T
rs121964957	NA	5095	PCCA	umls:C0268579	CLINVAR	NA	0.485157396	NA	PCCA	13	100268731	A	C,G,T
rs121964958	NA	5095	PCCA	umls:C0268579	CLINVAR	NA	0.485157396	NA	PCCA	13	100301512	T	A
rs121964959	NA	5096	PCCB	umls:C0268579	CLINVAR	NA	0.485428837	NA	PCCB	3	136327184	C	T
rs121964960	NA	5096	PCCB	umls:C0268579	CLINVAR	NA	0.485428837	NA	PCCB	3	136262024	G	A
rs121964961	NA	5096	PCCB	umls:C0268579	CLINVAR	NA	0.485428837	NA	PCCB	3	136327638	A	G
rs138149179	NA	5095	PCCA	umls:C0268579	CLINVAR	NA	0.485157396	NA	PCCA	13	100273218	C	T
rs142403318	11749052	5096	PCCB	umls:C0268579	UNIPROT	To clarify the molecular effect associated with gene alterations causing propionic acidemia, 12 different mutations affecting the PCCB gene (R67S, S106R, G131R, R165W, R165Q, E168K, G198D, A497V, R512C, L519P, W531X, and N536D) were analyzed for their involvement in alpha-beta heteromeric and beta-beta homomeric assembly.	0.485428837	2001	PCCB	3	136328849	C	T
rs186710233	NA	5096	PCCB	umls:C0268579	CLINVAR	NA	0.485428837	NA	PCCB	3	136329940	C	T
rs186710233	15059621	5096	PCCB	umls:C0268579	UNIPROT	Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia.	0.485428837	2004	PCCB	3	136329940	C	T
rs202247814	NA	5095	PCCA	umls:C0268579	CLINVAR	NA	0.485157396	NA	PCCA	13	100155090	G	A
rs202247814	23648696	5095	PCCA	umls:C0268579	BeFree	We generated an adult hypomorphic model of PA in Pcca(-) mice using a transgene bearing an A138T mutant of the human PCCA protein.	0.485157396	2013	PCCA	13	100155090	G	A
rs202247815	NA	5095	PCCA	umls:C0268579	CLINVAR	NA	0.485157396	NA	PCCA	13	100209354	T	C
rs202247816	NA	5095	PCCA	umls:C0268579	CLINVAR	NA	0.485157396	NA	PCCA	13	100368513	C	G
rs202247817	NA	5096	PCCB	umls:C0268579	CLINVAR	NA	0.485428837	NA	PCCB	3	136255952	G	T
rs202247818	NA	5096	PCCB	umls:C0268579	CLINVAR	NA	0.485428837	NA	PCCB	3	136256586	G	A
rs202247819	NA	5096	PCCB	umls:C0268579	CLINVAR	NA	0.485428837	NA	PCCB	3	136261979	G	C
rs202247820	NA	5096	PCCB	umls:C0268579	CLINVAR	NA	0.485428837	NA	PCCB	3	136328854	C	T
rs202247821	NA	5096	PCCB	umls:C0268579	CLINVAR	NA	0.485428837	NA	PCCB	3	136329945	-	CCC
rs202247822	10353789	5096	PCCB	umls:C0268579	BeFree	Defects in the PCCA and PCCB genes that code for the alpha and beta subunits of PCC, respectively, are responsible for PA. A proband with PA was previously shown to carry the c1170insT mutation and the private L519P mutation in the PCCB gene.	0.485428837	1999	PCCB	3	136329962	T	C
rs202247822	NA	5096	PCCB	umls:C0268579	CLINVAR	NA	0.485428837	NA	PCCB	3	136329962	T	C
rs202247822	10353789	5095	PCCA	umls:C0268579	BeFree	Defects in the PCCA and PCCB genes that code for the alpha and beta subunits of PCC, respectively, are responsible for PA. A proband with PA was previously shown to carry the c1170insT mutation and the private L519P mutation in the PCCB gene.	0.485157396	1999	PCCB	3	136329962	T	C
rs202247823	NA	5096	PCCB	umls:C0268579	CLINVAR	NA	0.485428837	NA	PCCB;LOC105374125	3	136330012	A	G
rs28934887	15059621	5096	PCCB	umls:C0268579	UNIPROT	Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia.	0.485428837	2004	NA	NA	NA	NA	NA
rs374722096	NA	5096	PCCB	umls:C0268579	CLINVAR	NA	0.485428837	NA	PCCB	3	136293784	C	T
rs397507445	NA	5096	PCCB	umls:C0268579	CLINVAR	NA	0.485428837	NA	PCCB	3	136327174	GGGCATCATCCGGC	TAGAGCACAGGA
rs398123297	NA	5095	PCCA	umls:C0268579	CLINVAR	NA	0.485157396	NA	PCCA	13	100273304	-	T
rs398123460	NA	5096	PCCB	umls:C0268579	CLINVAR	NA	0.485428837	NA	PCCB	3	136250559	G	A
rs398123462	NA	5096	PCCB	umls:C0268579	CLINVAR	NA	0.485428837	NA	PCCB	3	136250377	T	A
rs398123463	NA	5096	PCCB	umls:C0268579	CLINVAR	NA	0.485428837	NA	PCCB	3	136260492	TT	AAC
rs398123464	NA	5096	PCCB	umls:C0268579	CLINVAR	NA	0.485428837	NA	PCCB	3	136250378	G	A
rs587776758	NA	5096	PCCB	umls:C0268579	CLINVAR	NA	0.485428837	NA	PCCB	3	136326885	-	T
rs776496862	NA	5095	PCCA	umls:C0268579	CLINVAR	NA	0.485157396	NA	PCCA	13	100425674	G	A
rs786200983	NA	5096	PCCB	umls:C0268579	CLINVAR	NA	0.485428837	NA	PCCB	3	136316964	-	T
rs794726976	NA	5095	PCCA	umls:C0268579	CLINVAR	NA	0.485157396	NA	PCCA	13	100262787	CTAAT	-
rs794727092	NA	5096	PCCB	umls:C0268579	CLINVAR	NA	0.485428837	NA	PCCB	3	136327733	G	T
rs794727334	NA	5095	PCCA	umls:C0268579	CLINVAR	NA	0.485157396	NA	PCCA	13	100449309	AGTA	-
rs794727620	NA	5095	PCCA	umls:C0268579	CLINVAR	NA	0.485157396	NA	PCCA	13	100111992	G	A
rs797044729	NA	5096	PCCB	umls:C0268579	CLINVAR	NA	0.485428837	NA	PCCB	3	136260535	-	AAGATCTGCAAA

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:2)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001263	Global developmental delay	MP:0002084	abnormal developmental patterning	abnormal systematic arrangement of the developing body along an axis
HP:0010978	Abnormality of immune system physiology	MP:0011205	excessive folding of visceral yolk sac	the appearance of wrinkles or folds on the surface of the visceral yolk sac

Mapped by homologous gene(Total Items:11)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001987	Hyperammonemia	MP:0013405	increased circulating lactate level	greater amount of lactate in the blood which is produced from pyruvate by lactate dehydrogenase
HP:0010978	Abnormality of immune system physiology	MP:0020316	decreased vascular endothelial cell proliferation	decrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0001263	Global developmental delay	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0001943	Hypoglycemia	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0011675	Arrhythmia	MP:0020309	increased creatine kinase activity	increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0001249	Intellectual disability	MP:0020316	decreased vascular endothelial cell proliferation	decrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0002019	Constipation	MP:0020234	decreased basal metabolism	decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state
HP:0001638	Cardiomyopathy	MP:0020309	increased creatine kinase activity	increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0002240	Hepatomegaly	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0003353	Propionyl-CoA carboxylase deficiency	MP:0013293	embryonic lethality prior to tooth bud stage	death prior to the appearance of tooth buds (Mus: E12-E12.5)
HP:0001992	Organic aciduria	MP:0011471	decreased urine creatinine level	a reduced amount of creatinine in the urine compared to the normal state

Disease ID	123
Disease	propionic acidemia
Case	(Waiting for update.)