PC DEFICIENCY
MCID: PYR037
MIFTS: 45

Pyruvate Carboxylase Deficiency (PC DEFICIENCY)

Categories: Blood diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Pyruvate Carboxylase Deficiency

MalaCards integrated aliases for Pyruvate Carboxylase Deficiency:

Name: Pyruvate Carboxylase Deficiency 57 73 25 20 43 58 72 36 29 13 6 39
Pyruvate Carboxylase Deficiency Disease 12 43 44 15 17 70
Leigh Necrotizing Encephalopathy Due to Pyruvate Carboxylase Deficiency 57 20 43 58
Leigh Syndrome Due to Pyruvate Carboxylase Deficiency 57 20 43 58
Pc Deficiency 57 20 43 72
Pyruvate Carboxylase Deficiency, Severe Neonatal Type 58
Pyruvate Carboxylase Deficiency, Infantile Type 58
Pyruvate Carboxylase Deficiency, Benign Type 58
Pyruvate Carboxylase Deficiency Type C 58
Pyruvate Carboxylase Deficiency Type a 58
Pyruvate Carboxylase Deficiency Type B 58
Ataxia with Lactic Acidosis, Type Ii 43
Type Ii Ataxia with Lactic Acidosis 43
Ataxia with Lactic Acidosis Type Ii 58
Leigh Syndrome Due to Pc Deficiency 58
Ataxia with Lactic Acidosis Type 2 58
Deficiency of Pyruvic Carboxylase 12
Ataxia with Lactic Acidosis Ii 57
Ataxia with Lactic Acidosis 2 20

Characteristics:

Orphanet epidemiological data:

58
pyruvate carboxylase deficiency
Inheritance: Autosomal recessive,Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: early childhood;
pyruvate carboxylase deficiency, benign type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;
pyruvate carboxylase deficiency, infantile type
Inheritance: Autosomal recessive; Age of onset: Infancy; Age of death: early childhood,infantile;
pyruvate carboxylase deficiency, severe neonatal type
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth or in early infancy
some patients may respond to thiamine treatment
can be categorized into 3 groups
group a, found in north american indians, has lactic acidosis and psychomotor retardation
group a patients die in the first years of life
group b, found in france and united kingdom, severe phenotype
group b patients die by 3 months of age
group c is relatively benign


HPO:

31
pyruvate carboxylase deficiency:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:

Orphanet: 58  
Inborn errors of metabolism


Summaries for Pyruvate Carboxylase Deficiency

MedlinePlus Genetics : 43 Pyruvate carboxylase deficiency is an inherited disorder that causes lactic acid and other potentially toxic compounds to accumulate in the blood. High levels of these substances can damage the body's organs and tissues, particularly in the nervous system.Researchers have identified at least three types of pyruvate carboxylase deficiency, which are distinguished by the severity of their signs and symptoms. Type A, which has been identified mostly in people from North America, has severe symptoms that begin in infancy. Characteristic features include developmental delay and a buildup of lactic acid in the blood (lactic acidosis). Increased acidity in the blood can lead to vomiting, abdominal pain, extreme tiredness (fatigue), muscle weakness, and difficulty breathing. In some cases, episodes of lactic acidosis are triggered by an illness or periods without food (fasting). Children with pyruvate carboxylase deficiency type A typically survive only into infancy or early childhood.Pyruvate carboxylase deficiency type B has life-threatening signs and symptoms that become apparent shortly after birth. This form of the condition has been reported mostly in Europe, particularly France. Affected infants have severe lactic acidosis, a buildup of ammonia in the blood (hyperammonemia), and liver failure. They experience neurological problems including weak muscle tone (hypotonia), abnormal movements, seizures, and coma. Infants with this form of the condition usually survive for less than 3 months after birth.A milder form of pyruvate carboxylase deficiency, sometimes called type C, has also been described. This type is characterized by slightly increased levels of lactic acid in the blood and minimal signs and symptoms affecting the nervous system.

MalaCards based summary : Pyruvate Carboxylase Deficiency, also known as pyruvate carboxylase deficiency disease, is related to propionic acidemia and thrombophilia due to protein c deficiency, autosomal recessive, and has symptoms including periodic lactate elevations, seizures and clonus. An important gene associated with Pyruvate Carboxylase Deficiency is PC (Pyruvate Carboxylase), and among its related pathways/superpathways are Pyruvate metabolism and Citrate cycle (TCA cycle). The drug pyruvate has been mentioned in the context of this disorder. Affiliated tissues include brain, eye and cortex, and related phenotypes are increased serum lactate and lactic acidosis

Disease Ontology : 12 A carbohydrate metabolic disorder that is characterized by deficiency of pyruvate carboxylase causing decreased utilization of carbohydrates and toxic accumulation of lactic acid, possibly has symptom periodic lactate elevations, gastrointestinal upset, neonatal onset of metabolic acidosis, failure to thrive, developmental delay, seizures, death, and has material basis in autosomal recessive inheritance of mutation in the PC gene, which encodes pyruvate carboxylase, a critical protein in the citric acid cycle and in gluconeogenesis.

GARD : 20 Pyruvate carboxylase deficiency is an inherited disorder that causes lactic acid and other potentially toxic compounds to accumulate in the blood. High levels of these substances can damage the body's organs and tissues, particularly in the nervous system. Researchers have identified at least three types of pyruvate carboxylase deficiency, types A, B, and C, which are distinguished by the severity of their signs and symptoms. This condition is caused by mutations in the PC gene and inherited in an autosomal recessive pattern.

KEGG : 36 Pyruvate carboxylase deficiency is an autosomal recessive disorder caused by deficient activity of pyruvate carboxylase, an enzyme that catalyzes conversion from pyruvate to oxaloacetate.

UniProtKB/Swiss-Prot : 72 Pyruvate carboxylase deficiency: Leads to lactic acidosis, mental retardation and death. It occurs in three forms: mild or type A, severe neonatal or type B, and a very mild lacticacidemia.

Wikipedia : 73 Pyruvate carboxylase deficiency is an inherited disorder that causes lactic acid to accumulate in the... more...

More information from OMIM: 266150
GeneReviews: NBK6852

Related Diseases for Pyruvate Carboxylase Deficiency

Diseases related to Pyruvate Carboxylase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 44)
# Related Disease Score Top Affiliating Genes
1 propionic acidemia 11.4
2 thrombophilia due to protein c deficiency, autosomal recessive 11.3
3 mitochondrial complex iv deficiency, nuclear type 5 11.2
4 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 11.2
5 protein c deficiency 11.1
6 lactic acidosis 10.7
7 metabolic acidosis 10.6
8 carbonic anhydrase va deficiency, hyperammonemia due to 10.5
9 citrullinemia, classic 10.4
10 hypoglycemia 10.4
11 hypotonia 10.4
12 autosomal recessive disease 10.3
13 renal tubular acidosis 10.3
14 renal tubular acidosis, proximal 10.3
15 hyper-beta-alaninemia 10.3
16 abdominal obesity-metabolic syndrome 1 10.3
17 hyperlysinemia, type i 10.2
18 periventricular leukomalacia 10.2
19 encephalopathy 10.2
20 tremor 10.2
21 hypercholesterolemia, familial, 1 10.0
22 cystinuria 10.0
23 glycogen storage disease ia 10.0
24 glycogen storage disease iii 10.0
25 leigh syndrome 10.0
26 diabetes mellitus, ketosis-prone 10.0
27 pyruvate dehydrogenase e1-beta deficiency 10.0
28 alacrima, achalasia, and mental retardation syndrome 10.0
29 west syndrome 10.0
30 biotin deficiency 10.0
31 parkinsonism 10.0
32 bronchopneumonia 10.0
33 telangiectasis 10.0
34 status epilepticus 10.0
35 constipation 10.0
36 glycogen storage disease 10.0
37 nemaline myopathy 10.0
38 myopathy 10.0
39 multiple carboxylase deficiency 10.0
40 pathologic nystagmus 10.0
41 anoxia 10.0
42 seizure disorder 10.0
43 spasticity 10.0
44 glycogen storage disease due to glucose-6-phosphatase deficiency 10.0

Graphical network of the top 20 diseases related to Pyruvate Carboxylase Deficiency:



Diseases related to Pyruvate Carboxylase Deficiency

Symptoms & Phenotypes for Pyruvate Carboxylase Deficiency

Human phenotypes related to Pyruvate Carboxylase Deficiency:

58 31 (show top 50) (show all 80)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 increased serum lactate 58 31 hallmark (90%) Very frequent (99-80%) HP:0002151
2 lactic acidosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0003128
3 elevated lactate:pyruvate ratio 58 31 hallmark (90%) Very frequent (99-80%) HP:0032653
4 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
5 growth delay 58 31 frequent (33%) Frequent (79-30%) HP:0001510
6 hyperammonemia 58 31 frequent (33%) Frequent (79-30%) HP:0001987
7 increased csf lactate 58 31 frequent (33%) Frequent (79-30%) HP:0002490
8 increased serum pyruvate 58 31 frequent (33%) Frequent (79-30%) HP:0003542
9 metabolic acidosis 58 31 frequent (33%) Frequent (79-30%) HP:0001942
10 hyperalaninemia 58 31 frequent (33%) Frequent (79-30%) HP:0003348
11 hyperprolinemia 58 31 frequent (33%) Frequent (79-30%) HP:0008358
12 reduced brain n-acetyl aspartate level by mrs 58 31 frequent (33%) Frequent (79-30%) HP:0012708
13 elevated brain choline level by mrs 58 31 frequent (33%) Frequent (79-30%) HP:0012706
14 hyperlysinemia 58 31 frequent (33%) Frequent (79-30%) HP:0002161
15 elevated brain lactate level by mrs 58 31 frequent (33%) Frequent (79-30%) HP:0012707
16 lacticaciduria 58 31 frequent (33%) Frequent (79-30%) HP:0003648
17 elevated plasma citrulline 58 31 frequent (33%) Frequent (79-30%) HP:0011966
18 hyperketonemia 58 31 frequent (33%) Frequent (79-30%) HP:0410175
19 increased caudate lactate level 58 31 frequent (33%) Frequent (79-30%) HP:0012644
20 increased level of l-glutamic acid in blood 58 31 frequent (33%) Frequent (79-30%) HP:0410068
21 hypoglutaminemia 58 31 frequent (33%) Frequent (79-30%) HP:0500147
22 hypertaurinemia 58 31 frequent (33%) Frequent (79-30%) HP:0500181
23 decreased csf glutamine concentration 58 31 frequent (33%) Frequent (79-30%) HP:0500198
24 increased csf glutamate concentration 58 31 frequent (33%) Frequent (79-30%) HP:0500200
25 increased csf alanine concentration 58 31 frequent (33%) Frequent (79-30%) HP:0500233
26 increased csf citrulline concentration 58 31 frequent (33%) Frequent (79-30%) HP:0500246
27 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
28 agenesis of corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0001274
29 abnormal pyramidal sign 58 31 occasional (7.5%) Occasional (29-5%) HP:0007256
30 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
31 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
32 tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0001337
33 hepatomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002240
34 dyskinesia 58 31 occasional (7.5%) Occasional (29-5%) HP:0100660
35 dehydration 58 31 occasional (7.5%) Occasional (29-5%) HP:0001944
36 vomiting 58 31 occasional (7.5%) Occasional (29-5%) HP:0002013
37 hypoglycemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001943
38 anorexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002039
39 obsessive-compulsive behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000722
40 ventriculomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002119
41 dystonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001332
42 infantile spasms 58 31 occasional (7.5%) Occasional (29-5%) HP:0012469
43 poor eye contact 58 31 occasional (7.5%) Occasional (29-5%) HP:0000817
44 tachypnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002789
45 abnormal temper tantrums 58 31 occasional (7.5%) Occasional (29-5%) HP:0025160
46 generalized hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001290
47 apathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000741
48 excessive daytime somnolence 58 31 occasional (7.5%) Occasional (29-5%) HP:0001262
49 hyperglycemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003074
50 poor speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0002465

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
clonus
psychomotor retardation
periventricular leukomalacia
neuronal loss in the cerebral cortex
more
Laboratory Abnormalities:
hypoglycemia
increased serum lactate
increased serum pyruvate
increased serum alanine
decreased pyruvate carboxylase (pc) activity (less than 5%)
more
Genitourinary Kidneys:
renal tubular acidosis, proximal

Abdomen Liver:
hepatomegaly

Metabolic Features:
lactic acidosis

Clinical features from OMIM®:

266150 (Updated 05-Apr-2021)

Symptoms:

12
  • periodic lactate elevations

UMLS symptoms related to Pyruvate Carboxylase Deficiency:


seizures; clonus

Drugs & Therapeutics for Pyruvate Carboxylase Deficiency

Drugs for Pyruvate Carboxylase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 pyruvate

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Dietary Therapy for Inherited Disorders of Energy Metabolism No longer available NCT01461304 triheptanoin

Search NIH Clinical Center for Pyruvate Carboxylase Deficiency

Cochrane evidence based reviews: pyruvate carboxylase deficiency disease

Genetic Tests for Pyruvate Carboxylase Deficiency

Genetic tests related to Pyruvate Carboxylase Deficiency:

# Genetic test Affiliating Genes
1 Pyruvate Carboxylase Deficiency 29 PC

Anatomical Context for Pyruvate Carboxylase Deficiency

MalaCards organs/tissues related to Pyruvate Carboxylase Deficiency:

40
Brain, Eye, Cortex, Liver, Skin

Publications for Pyruvate Carboxylase Deficiency

Articles related to Pyruvate Carboxylase Deficiency:

(show top 50) (show all 105)
# Title Authors PMID Year
1
Amerindian pyruvate carboxylase deficiency is associated with two distinct missense mutations. 25 6 61 57
9585612 1998
2
Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency. 57 6 61
19306334 2009
3
Intron retention and frameshift mutations result in severe pyruvate carboxylase deficiency in two male siblings. 61 6 57
12112657 2002
4
Molecular characterization of pyruvate carboxylase deficiency in two consanguineous families. 61 6 57
9585002 1998
5
The molecular basis of pyruvate carboxylase deficiency: mosaicism correlates with prolonged survival. 25 6 61
18676167 2008
6
Pyruvate carboxylase deficiency: a benign variant with normal development. 61 25 57
1909777 1991
7
Novel Mutations in the PC Gene in Patients with Type B Pyruvate Carboxylase Deficiency. 61 6
23430542 2013
8
A case of pyruvate carboxylase deficiency with atypical clinical and neuroradiological presentation. 57 61
16325442 2006
9
Pyruvate carboxylase deficiency: prenatal onset of ischemia-like brain lesions in two sibs with the acute neonatal form. 57 61
10323732 1999
10
An atypical French form of pyruvate carboxylase deficiency. 57 61
7503391 1995
11
The French and North American phenotypes of pyruvate carboxylase deficiency, correlation with biotin containing protein by 3H-biotin incorporation, 35S-streptavidin labeling, and Northern blotting with a cloned cDNA probe. 61 57
3101494 1987
12
Pyruvate carboxylase deficiency in twins. 57 61
3088322 1986
13
Prenatal diagnosis of pyruvate carboxylase deficiency. 57 61
3919380 1985
14
The molecular basis for the two different clinical presentations of classical pyruvate carboxylase deficiency. 57 61
6424438 1984
15
Pyruvate carboxylase deficiency. 57 61
6434849 1984
16
Leigh's necrotizing encephalopathy with pyruvate carboxylase deficiency. 57 61
6402999 1983
17
A case of pyruvate carboxylase deficiency with later prenatal diagnosis of an unaffected sibling. 57 61
6422150 1983
18
Neonatal pyruvate carboxylase deficiency with renal tubular acidosis and cystinuria. 61 57
6422151 1983
19
Secondary citrullinemia with hyperammonemia in four neonatal cases of pyruvate carboxylase deficiency. 61 57
6798542 1981
20
Lactic acidosis due to pyruvate carboxylase deficiency. 57 61
6790846 1981
21
Carrier detection of pyruvate carboxylase deficiency in fibroblasts and lymphocytes. 57 61
116187 1979
22
Pyruvate carboxylase deficiency and lactic acidosis in a retarded child without Leigh's disease. 61 57
219411 1979
23
Neonatal congenital lactic acidosis with pyruvate carboxylase deficiency in two siblings. 57 61
826106 1976
24
Hyperalaninemia hyperpyruvicemia and lactic acidosis due to pyruvate carboxylase deficiency of the liver; treatment with thiamine and lipoic acid. 61 57
817914 1976
25
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. 6
25058219 2014
26
Pyruvate carboxylase deficiency: metabolic characteristics and new neurological aspects. 61 25
16278852 2006
27
Pyruvate carboxylase deficiency: clinical and biochemical response to anaplerotic diet therapy. 25 61
15781190 2005
28
Pyruvate carboxylase deficiency--insights from liver transplantation. 61 25
12359142 2002
29
Pyruvate carboxylase deficiency. Report of a case and additional evidence for the "mild" phenotype. 61 25
11583052 2001
30
Treatment of pyruvate carboxylase deficiency with high doses of citrate and aspartate. 25 61
10588840 1999
31
Mapping FRA11A, a folate-sensitive fragile site in human chromosome band 11q13.3. 57
9533019 1997
32
Prolonged survival in pyruvate carboxylase deficiency: lack of correlation with enzyme activity in cultured fibroblasts. 25 61
7720232 1995
33
Assignment of the human pyruvate carboxylase gene (PC) to 11q13.4 by fluorescence in situ hybridisation. 57
7698008 1995
34
A linkage map of mouse chromosome 19: definition of comparative mapping relationships with human chromosomes 10 and 11 including the MEN1 locus. 57
1358795 1992
35
Molecular cloning of a cDNA for human pyruvate carboxylase. Structural relationship to other biotin-containing carboxylases and regulation of mRNA content in differentiating preadipocytes. 57
6548474 1984
36
The clinical and biochemical implications of pyruvate carboxylase deficiency. 61 25
412860 1977
37
Hyperalaninemia with pyruvicemia (preliminary report). 57
5771860 1969
38
Mitochondrial disorders in the nervous system. 25
18333761 2008
39
Anaplerotic diet therapy in inherited metabolic disease: therapeutic potential. 25
16763896 2006
40
Structure, function and regulation of pyruvate carboxylase. 25
10229653 1999
41
[Congenital oculomotor apraxia and partial deficiency of pyruvate carboxylase]. 25
9575131 1997
42
Challenges in the management of an ignored cause of hyperammonemic encephalopathy: pyruvate carboxylase deficiency. 61
32145058 2020
43
Pyruvate carboxylase deficiency type A and type C: Characterization of five novel pathogenic variants in PC and analysis of the genotype-phenotype correlation. 61
30870574 2019
44
Pyruvate Carboxylase Deficiency Type C: A Rare Cause of Acute Transient Flaccid Paralysis with Ketoacidosis. 61
30045381 2018
45
Prenatal sonographic description of fetuses affected by pyruvate dehydrogenase or pyruvate carboxylase deficiency. 61
29752808 2018
46
Pyruvate Carboxylase Deficiency Mimicking Diabetic Ketoacidosis. 61
28831725 2017
47
Triheptanoin for the treatment of brain energy deficit: A 14-year experience. 61
28688166 2017
48
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder. 61
27106218 2016
49
Pyruvate carboxylase deficiency: An underestimated cause of lactic acidosis. 61
28649521 2015
50
Unsuccessful treatment of severe pyruvate carboxylase deficiency with triheptanoin. 61
24114256 2014

Variations for Pyruvate Carboxylase Deficiency

ClinVar genetic disease variations for Pyruvate Carboxylase Deficiency:

6 (show top 50) (show all 241)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PC NM_001040716.2(PC):c.1828G>A (p.Ala610Thr) SNV Pathogenic 2094 rs28940589 GRCh37: 11:66619415-66619415
GRCh38: 11:66851944-66851944
2 PC NM_001040716.2(PC):c.2229G>T (p.Met743Ile) SNV Pathogenic 2095 rs28940590 GRCh37: 11:66618389-66618389
GRCh38: 11:66850918-66850918
3 PC NM_001040716.2(PC):c.434T>C (p.Val145Ala) SNV Pathogenic 2096 rs28940591 GRCh37: 11:66638839-66638839
GRCh38: 11:66871368-66871368
4 PC NM_001040716.2(PC):c.1351C>T (p.Arg451Cys) SNV Pathogenic 2097 rs113994143 GRCh37: 11:66631262-66631262
GRCh38: 11:66863791-66863791
5 PC PC, IVS15, 4-BP DEL, TAGG, +2-5 Deletion Pathogenic 2098 GRCh37:
GRCh38:
6 PC PC, 2-BP DEL, 2491GT Deletion Pathogenic 2099 GRCh37:
GRCh38:
7 PC NM_001040716.2(PC):c.1705A>G (p.Thr569Ala) SNV Pathogenic 21220 rs113994144 GRCh37: 11:66620030-66620030
GRCh38: 11:66852559-66852559
8 PC NM_001040716.2(PC):c.184C>T (p.Arg62Cys) SNV Pathogenic 21221 rs113994141 GRCh37: 11:66639295-66639295
GRCh38: 11:66871824-66871824
9 PC NM_001040716.2(PC):c.2114C>A (p.Ser705Ter) SNV Pathogenic 21223 rs113994146 GRCh37: 11:66618620-66618620
GRCh38: 11:66851149-66851149
10 PC NM_001040716.2(PC):c.1748G>T (p.Arg583Leu) SNV Pathogenic 2101 rs119103242 GRCh37: 11:66619987-66619987
GRCh38: 11:66852516-66852516
11 PC NM_001040716.2(PC):c.2540C>T (p.Ala847Val) SNV Pathogenic 21226 rs113994147 GRCh37: 11:66617869-66617869
GRCh38: 11:66850398-66850398
12 PC NM_001040716.2(PC):c.3409_3410del (p.Leu1137fs) Deletion Pathogenic 21229 rs113994148 GRCh37: 11:66616497-66616498
GRCh38: 11:66849026-66849027
13 PC NM_001040716.2(PC):c.796T>A (p.Ser266Thr) SNV Pathogenic 21230 rs113994142 GRCh37: 11:66637880-66637880
GRCh38: 11:66870409-66870409
14 PC NM_001040716.2(PC):c.2668G>T (p.Val890Phe) SNV Pathogenic 487339 rs1555014957 GRCh37: 11:66617741-66617741
GRCh38: 11:66850270-66850270
15 PC NM_001040716.2(PC):c.2491_2492GT[1] (p.Val831_Phe832insTer) Microsatellite Pathogenic 556347 rs756355930 GRCh37: 11:66617915-66617916
GRCh38: 11:66850444-66850445
16 PC NM_001040716.2(PC):c.2876dup (p.Glu961fs) Duplication Pathogenic 2102 rs1565209327 GRCh37: 11:66617429-66617430
GRCh38: 11:66849958-66849959
17 PC NM_001040716.2(PC):c.368_371AGCG[1] (p.Ala125fs) Microsatellite Pathogenic 575715 rs1565245427 GRCh37: 11:66638898-66638901
GRCh38: 11:66871427-66871430
18 PC NM_001040716.2(PC):c.1168dup (p.Asp390fs) Duplication Pathogenic 950725 GRCh37: 11:66633674-66633675
GRCh38: 11:66866203-66866204
19 PC NM_001040716.2(PC):c.1480C>T (p.Gln494Ter) SNV Pathogenic 982091 GRCh37: 11:66620743-66620743
GRCh38: 11:66853272-66853272
20 PC NM_001040716.2(PC):c.1357C>T (p.Arg453Ter) SNV Pathogenic 436166 rs768514713 GRCh37: 11:66631256-66631256
GRCh38: 11:66863785-66863785
21 PC NM_001040716.2(PC):c.449_451dup (p.Gly150dup) Duplication Pathogenic 976713 GRCh37: 11:66638821-66638822
GRCh38: 11:66871350-66871351
22 PC NM_001040716.2(PC):c.1892G>A (p.Arg631Gln) SNV Pathogenic 21222 rs113994145 GRCh37: 11:66619351-66619351
GRCh38: 11:66851880-66851880
23 LRFN4 , PC NM_001040716.2(PC):c.1368+3605C>A SNV Pathogenic 1030920 GRCh37: 11:66627640-66627640
GRCh38: 11:66860169-66860169
24 PC NM_001040716.2(PC):c.286del (p.Tyr96fs) Deletion Pathogenic 1032491 GRCh37: 11:66639193-66639193
GRCh38: 11:66871722-66871722
25 PC NM_001040716.2(PC):c.3306dup (p.Lys1103fs) Duplication Likely pathogenic 930539 GRCh37: 11:66616600-66616601
GRCh38: 11:66849129-66849130
26 PC NM_001040716.2(PC):c.2095G>A (p.Val699Met) SNV Likely pathogenic 242443 rs760108147 GRCh37: 11:66618639-66618639
GRCh38: 11:66851168-66851168
27 PC NM_001040716.2(PC):c.3141_3142delinsA (p.Phe1048fs) Indel Likely pathogenic 554982 rs1555014332 GRCh37: 11:66617087-66617088
GRCh38: 11:66849616-66849617
28 PC NM_001040716.2(PC):c.3359_3362dup (p.Ile1123fs) Duplication Likely pathogenic 555085 rs1555013840 GRCh37: 11:66616544-66616545
GRCh38: 11:66849073-66849074
29 PC NM_001040716.2(PC):c.1022+1G>A SNV Likely pathogenic 556666 rs1555025823 GRCh37: 11:66636316-66636316
GRCh38: 11:66868845-66868845
30 PC NM_001040716.2(PC):c.1368+1G>A SNV Likely pathogenic 448903 rs755640269 GRCh37: 11:66631244-66631244
GRCh38: 11:66863773-66863773
31 PC NM_001040716.2(PC):c.815A>G (p.Gln272Arg) SNV Likely pathogenic 802690 rs1591186383 GRCh37: 11:66637861-66637861
GRCh38: 11:66870390-66870390
32 PC NM_001040716.2(PC):c.1514-2A>G SNV Likely pathogenic 939515 GRCh37: 11:66620309-66620309
GRCh38: 11:66852838-66852838
33 PC NM_001040716.2(PC):c.903+2T>A SNV Likely pathogenic 944546 GRCh37: 11:66637771-66637771
GRCh38: 11:66870300-66870300
34 PC NM_001040716.2(PC):c.633+2T>C SNV Likely pathogenic 551488 rs763433647 GRCh37: 11:66638521-66638521
GRCh38: 11:66871050-66871050
35 PC NM_001040716.2(PC):c.52C>T (p.Arg18Ter) SNV Likely pathogenic 554170 rs144583275 GRCh37: 11:66639579-66639579
GRCh38: 11:66872108-66872108
36 PC NM_001040716.2(PC):c.879C>T (p.Ser293=) SNV Conflicting interpretations of pathogenicity 305631 rs183131461 GRCh37: 11:66637797-66637797
GRCh38: 11:66870326-66870326
37 PC NM_001040716.2(PC):c.3483T>C (p.His1161=) SNV Conflicting interpretations of pathogenicity 795761 rs190223302 GRCh37: 11:66616424-66616424
GRCh38: 11:66848953-66848953
38 PC NM_001040716.2(PC):c.2899-9G>A SNV Conflicting interpretations of pathogenicity 770976 rs372755874 GRCh37: 11:66617339-66617339
GRCh38: 11:66849868-66849868
39 PC NM_001040716.2(PC):c.1233C>T (p.Ser411=) SNV Conflicting interpretations of pathogenicity 305627 rs747247743 GRCh37: 11:66631380-66631380
GRCh38: 11:66863909-66863909
40 PC NM_001040716.2(PC):c.2719-5_2719-3del Microsatellite Conflicting interpretations of pathogenicity 305619 rs566558597 GRCh37: 11:66617590-66617592
GRCh38: 11:66850119-66850121
41 PC NM_001040716.2(PC):c.3435G>T (p.Met1145Ile) SNV Conflicting interpretations of pathogenicity 305616 rs201796252 GRCh37: 11:66616472-66616472
GRCh38: 11:66849001-66849001
42 PC NM_001040716.2(PC):c.1530C>T (p.Asn510=) SNV Conflicting interpretations of pathogenicity 743393 rs755162836 GRCh37: 11:66620291-66620291
GRCh38: 11:66852820-66852820
43 PC NM_001040716.2(PC):c.3531C>T (p.Ile1177=) SNV Conflicting interpretations of pathogenicity 744899 rs144982348 GRCh37: 11:66616376-66616376
GRCh38: 11:66848905-66848905
44 PC NM_001040716.2(PC):c.1589C>T (p.Pro530Leu) SNV Conflicting interpretations of pathogenicity 792985 rs370248734 GRCh37: 11:66620232-66620232
GRCh38: 11:66852761-66852761
45 PC NM_001040716.2(PC):c.806G>A (p.Arg269Gln) SNV Conflicting interpretations of pathogenicity 550614 rs1349343839 GRCh37: 11:66637870-66637870
GRCh38: 11:66870399-66870399
46 PC NM_001040716.2(PC):c.715A>G (p.Ile239Val) SNV Conflicting interpretations of pathogenicity 305632 rs148805312 GRCh37: 11:66638282-66638282
GRCh38: 11:66870811-66870811
47 PC NM_001040716.2(PC):c.3198C>T (p.Ser1066=) SNV Conflicting interpretations of pathogenicity 305618 rs144087445 GRCh37: 11:66616791-66616791
GRCh38: 11:66849320-66849320
48 PC NM_001040716.2(PC):c.2550C>T (p.Cys850=) SNV Conflicting interpretations of pathogenicity 138580 rs61749179 GRCh37: 11:66617859-66617859
GRCh38: 11:66850388-66850388
49 PC NM_001040716.2(PC):c.788G>A (p.Arg263Gln) SNV Conflicting interpretations of pathogenicity 203921 rs769177104 GRCh37: 11:66637888-66637888
GRCh38: 11:66870417-66870417
50 PC NM_001040716.2(PC):c.616G>T (p.Val206Leu) SNV Conflicting interpretations of pathogenicity 203920 rs147945506 GRCh37: 11:66638540-66638540
GRCh38: 11:66871069-66871069

UniProtKB/Swiss-Prot genetic disease variations for Pyruvate Carboxylase Deficiency:

72
# Symbol AA change Variation ID SNP ID
1 PC p.Ala610Thr VAR_008095 rs28940589
2 PC p.Met743Ile VAR_008096 rs28940590
3 PC p.Val145Ala VAR_015199 rs28940591
4 PC p.Arg451Cys VAR_015200 rs113994143
5 PC p.Arg156Gln VAR_058957 rs119103241
6 PC p.Arg270Trp VAR_058958 rs125849475
7 PC p.Tyr304Cys VAR_058959
8 PC p.Arg583Leu VAR_058960 rs119103242
9 PC p.Arg631Gln VAR_058961 rs113994145

Expression for Pyruvate Carboxylase Deficiency

Search GEO for disease gene expression data for Pyruvate Carboxylase Deficiency.

Pathways for Pyruvate Carboxylase Deficiency

Pathways related to Pyruvate Carboxylase Deficiency according to KEGG:

36
# Name Kegg Source Accession
1 Pyruvate metabolism hsa00620
2 Citrate cycle (TCA cycle) hsa00020

GO Terms for Pyruvate Carboxylase Deficiency

Sources for Pyruvate Carboxylase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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