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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Brain Diseases, Metabolic, Inborn (D020739)
Parent Node: Mitochondrial Diseases (D028361)
Parent Node: Pyruvate Metabolism, Inborn Errors (D015323)
..Starting node ..Pyruvate Carboxylase Deficiency Disease (D015324)
Child Nodes:
........Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency (C536255)
Sister Nodes:
..Leigh Disease (D007888) 12
..Pyruvate Carboxylase Deficiency Disease (D015324) 1
..Pyruvate Dehydrogenase Complex Deficiency Disease (D015325) 4
..Pyruvate Kinase Deficiency of Red Cells (C564858)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9544

Name:

Pyruvate Carboxylase Deficiency Disease

Definition:

An autosomal recessive metabolic disorder caused by absent or decreased PYRUVATE CARBOXYLASE activity, the enzyme that regulates gluconeogenesis, lipogenesis, and neurotransmitter synthesis. Clinical manifestations include lactic acidosis, seizures, respiratory distress, marked psychomotor delay, periodic HYPOGLYCEMIA, and hypotonia. The clinical course may be similar to LEIGH DISEASE. (From Am J Hum Genet 1998 Jun;62(6):1312-9)

Alternative IDs:

OMIM:266150

ParentIDs:

MESH:D015323|MESH:D020739|MESH:D028361

TreeNumbers:

C10.228.140.163.100.725 |C16.320.565.189.725 |C16.320.565.202.810.666 |C18.452.132.100.725 |C18.452.648.189.725 |C18.452.648.202.810.666 |C18.452.660.705

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Metabolic disease|Nervous system disease

Reference:

MedGen: D015324
MeSH: D015324
OMIM: 266150;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003577	Congenital onset
3	HP:0002169	Clonus
4	HP:0001290	Generalized hypotonia
5	HP:0001263	Global developmental delay
6	HP:0002240	Hepatomegaly
7	HP:0003348	Hyperalaninemia
8	HP:0001943	Hypoglycemia
9	HP:0001252	Hypotonia
10	HP:0002151	Increased serum lactate
11	HP:0003542	Increased serum pyruvate
12	HP:0001249	Intellectual disability
13	HP:0003128	Lactic acidosis
14	HP:0007190	Neuronal loss in the cerebral cortex
15	HP:0006970	Periventricular leukomalacia
16	HP:0002049	Proximal renal tubular acidosis
17	HP:0001250	Seizure

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000920.3(PC):c.3409_3410delCT (p.Leu1137Valfs)	5091	PC	Pathogenic	113994148	RCV000020391;	N	MedGen:C0034341,OMIM:266150,ORPHA:3008,SNOMED CT:87694001	11	66616497	66616498	NM_000920.3:c.3409_3410delCT	NP_000911.2:p.Leu1137Valfs	NC_000011.9:g.66616497_66616498delAG	-	C0034341 266150 Pyruvate carboxylase deficiency
NM_000920.3(PC):c.2874G>T (p.Gly958=)	5091	PC	Benign	1131855	RCV000020390;	N	MedGen:C0034341,OMIM:266150,ORPHA:3008,SNOMED CT:87694001	11	66617432	66617432	NM_000920.3:c.2874G>T	NP_000911.2:p.Gly958=	NC_000011.9:g.66617432C>A	-	C0034341 266150 Pyruvate carboxylase deficiency
NM_000920.3(PC):c.2619C>T (p.Asn873=)	5091	PC	Benign	2229745	RCV000020389;	N	MedGen:C0034341,OMIM:266150,ORPHA:3008,SNOMED CT:87694001	11	66617790	66617790	NM_000920.3:c.2619C>T	NP_000911.2:p.Asn873=	NC_000011.9:g.66617790G>A	-	C0034341 266150 Pyruvate carboxylase deficiency
NM_000920.3(PC):c.2540C>T (p.Ala847Val)	5091	PC	Pathogenic	113994147	RCV000020388;	N	MedGen:C0034341,OMIM:266150,ORPHA:3008,SNOMED CT:87694001	11	66617869	66617869	NM_000920.3:c.2540C>T	NP_000911.2:p.Ala847Val	NC_000011.9:g.66617869G>A	-	C0034341 266150 Pyruvate carboxylase deficiency
NM_000920.3(PC):c.2286C>G (p.Arg762=)	5091	PC	Benign	1051707	RCV000020387;	N	MedGen:C0034341,OMIM:266150,ORPHA:3008,SNOMED CT:87694001	11	66618332	66618332	NM_000920.3:c.2286C>G	NP_000911.2:p.Arg762=	NC_000011.9:g.66618332G>C	-	C0034341 266150 Pyruvate carboxylase deficiency
NM_000920.3(PC):c.2229G>T (p.Met743Ile)	5091	PC	Pathogenic	28940590	RCV000002176;	N	MedGen:C0034341,OMIM:266150,ORPHA:3008,SNOMED CT:87694001	11	66618389	66618389	NM_000920.3:c.2229G>T	NP_000911.2:p.Met743Ile	NC_000011.9:g.66618389C>A	OMIM Allelic Variant:608786.0002	C0034341 266150 Pyruvate carboxylase deficiency
NM_000920.3(PC):c.2114C>A (p.Ser705Ter)	5091	PC	Pathogenic	113994146	RCV000020385;	N	MedGen:C0034341,OMIM:266150,ORPHA:3008,SNOMED CT:87694001	11	66618620	66618620	NM_000920.3:c.2114C>A	NP_000911.2:p.Ser705Ter	NC_000011.9:g.66618620G>T	-	C0034341 266150 Pyruvate carboxylase deficiency
NM_022172.2(PC):c.2095G>T (p.Val699Leu)	5091	PC	Likely pathogenic	760108147	RCV000207120;	N	MedGen:C0034341,OMIM:266150,ORPHA:3008,SNOMED CT:87694001	11	66618639	66618639	NM_022172.2:c.2095G>T	NP_071504.2:p.Val699Leu		-	C0034341 266150 Pyruvate carboxylase deficiency
NM_022172.2(PC):c.2095G>A (p.Val699Met)	5091	PC	Likely pathogenic	760108147	RCV000207120;	N	MedGen:C0034341,OMIM:266150,ORPHA:3008,SNOMED CT:87694001	11	66618639	66618639	NM_022172.2:c.2095G>A	NP_071504.2:p.Val699Met		-	C0034341 266150 Pyruvate carboxylase deficiency
NM_000920.3(PC):c.1892G>A (p.Arg631Gln)	5091	PC	Pathogenic	113994145	RCV000020384;	N	MedGen:C0034341,OMIM:266150,ORPHA:3008,SNOMED CT:87694001	11	66619351	66619351	NM_000920.3:c.1892G>A	NP_000911.2:p.Arg631Gln	NC_000011.9:g.66619351C>T	-	C0034341 266150 Pyruvate carboxylase deficiency
NM_000920.3(PC):c.1828G>A (p.Ala610Thr)	5091	PC	Pathogenic	28940589	RCV000002175;	N	MedGen:C0034341,OMIM:266150,ORPHA:3008,SNOMED CT:87694001	11	66619415	66619415	NM_000920.3:c.1828G>A	NP_000911.2:p.Ala610Thr	NC_000011.9:g.66619415C>T	OMIM Allelic Variant:608786.0001	C0034341 266150 Pyruvate carboxylase deficiency
NM_001040716.1(PC):c.1748G>T (p.Arg583Leu)	5091	PC	Pathogenic	119103242	RCV000002182;	N	MedGen:C0034341,OMIM:266150,ORPHA:3008,SNOMED CT:87694001	11	66619987	66619987	NM_001040716.1:c.1748G>T	NP_001035806.1:p.Arg583Leu	NC_000011.9:g.66619987C>A	OMIM Allelic Variant:608786.0008	C0034341 266150 Pyruvate carboxylase deficiency
NM_000920.3(PC):c.1705A>G (p.Thr569Ala)	5091	PC	Pathogenic	113994144	RCV000020382;	N	MedGen:C0034341,OMIM:266150,ORPHA:3008,SNOMED CT:87694001	11	66620030	66620030	NM_000920.3:c.1705A>G	NP_000911.2:p.Thr569Ala	NC_000011.9:g.66620030T>C	-	C0034341 266150 Pyruvate carboxylase deficiency
NM_000920.3(PC):c.1351C>T (p.Arg451Cys)	5091	PC	Pathogenic	113994143	RCV000002178;	N	MedGen:C0034341,OMIM:266150,ORPHA:3008,SNOMED CT:87694001	11	66631262	66631262	NM_000920.3:c.1351C>T	NP_000911.2:p.Arg451Cys	NC_000011.9:g.66631262G>A	OMIM Allelic Variant:608786.0004	C0034341 266150 Pyruvate carboxylase deficiency
NM_000920.3(PC):c.1054G>T (p.Ala352Ser)	5091	PC	Benign	1051704	RCV000020381;	N	MedGen:C0034341,OMIM:266150,ORPHA:3008,SNOMED CT:87694001	11	66633789	66633789	NM_000920.3:c.1054G>T	NP_000911.2:p.Ala352Ser	NC_000011.9:g.66633789C>A	-	C0034341 266150 Pyruvate carboxylase deficiency
NM_000920.3(PC):c.796T>A (p.Ser266Thr)	5091	PC	Pathogenic	113994142	RCV000020392;	N	MedGen:C0034341,OMIM:266150,ORPHA:3008,SNOMED CT:87694001	11	66637880	66637880	NM_000920.3:c.796T>A	NP_000911.2:p.Ser266Thr	NC_000011.9:g.66637880A>T	-	C0034341 266150 Pyruvate carboxylase deficiency
NM_001040716.1(PC):c.467G>A (p.Arg156Gln)	5091	PC	Pathogenic	119103241	RCV000002181;	N	MedGen:C0034341,OMIM:266150,ORPHA:3008,SNOMED CT:87694001	11	66638806	66638806	NM_001040716.1:c.467G>A	NP_001035806.1:p.Arg156Gln	NC_000011.9:g.66638806C>T	OMIM Allelic Variant:608786.0007	C0034341 266150 Pyruvate carboxylase deficiency
NM_000920.3(PC):c.434T>C (p.Val145Ala)	5091	PC	Pathogenic	28940591	RCV000002177;	N	MedGen:C0034341,OMIM:266150,ORPHA:3008,SNOMED CT:87694001	11	66638839	66638839	NM_000920.3:c.434T>C	NP_000911.2:p.Val145Ala	NC_000011.9:g.66638839A>G	OMIM Allelic Variant:608786.0003	C0034341 266150 Pyruvate carboxylase deficiency
NM_000920.3(PC):c.227A>T (p.His76Leu)	5091	PC	Benign	7104156	RCV000020386;	N	MedGen:C0034341,OMIM:266150,ORPHA:3008,SNOMED CT:87694001	11	66639252	66639252	NM_000920.3:c.227A>T	NP_000911.2:p.His76Leu	NC_000011.9:g.66639252T>A	-	C0034341 266150 Pyruvate carboxylase deficiency
NM_000920.3(PC):c.184C>T (p.Arg62Cys)	5091	PC	Pathogenic	113994141	RCV000020383;	N	MedGen:C0034341,OMIM:266150,ORPHA:3008,SNOMED CT:87694001	11	66639295	66639295	NM_000920.3:c.184C>T	NP_000911.2:p.Arg62Cys	NC_000011.9:g.66639295G>A	-	C0034341 266150 Pyruvate carboxylase deficiency