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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: Genetic Diseases, X-Linked (D040181)
Parent Node: Metabolism, Inborn Errors (D008661)
..Starting node ..Phosphoglycerate Kinase 1 Deficiency (C567067)
Child Nodes:
Sister Nodes:
..3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency (C567784)
..3-Hydroxyacyl-CoA Dehydrogenase Deficiency (C535310)
..3-Methylglutaconic Aciduria (C579867)
..3-Methylglutaconic Aciduria Type IV (C565393)
..3-Methylglutaconic Aciduria, Type I (C562801)
..3-Methylglutaconic Aciduria, Type V (C565706)
..5-Nucleotidase syndrome (C535321)
..6-Phosphogluconolactonase Deficiency (C566803)
..Acetylcarnitine deficiency (C536006)
..Acholinesterasemia (C566750)
..Acid Phosphatase Deficiency (C562645)
..Adenine phosphoribosyltransferase deficiency (C538228)
..AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY (OMIM:608688)
..alpha-Fetoprotein Deficiency (C566300)
..Amino Acid Metabolism, Inborn Errors (D000592) 169
..Amino Acid Transport Disorders, Inborn (D020157) 3
..Amobarbital, Deficient N-Hydroxylation of (C565959)
..Amyloidosis, Familial (D028226) 13
..Arene Oxide Detoxification Defect (C565043)
..Aromatase deficiency (C537436)
..Aryl Hydrocarbon Hydroxylase Inducibility (C566250)
..BISPHOSPHOGLYCERATE MUTASE DEFICIENCY (OMIM:222800)
..Brain Diseases, Metabolic, Inborn (D020739) 218
..Butyrylcholinesterase deficiency (C537417)
..Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type (C566751)
..Carbohydrate Metabolism, Inborn Errors (D002239) 169
..Carnitine Acetyltransferase Deficiency (C563249)
..Carnitine palmitoyl transferase 2 deficiency (C535589)
..Chromate Resistance (C566125)
..COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
..Combined Malonic and Methylmalonic Aciduria (C580002)
..Combined Oxidative Phosphorylation Deficiency 1 (C563797)
..Combined Oxidative Phosphorylation Deficiency 4 (C565690)
..Combined Oxidative Phosphorylation Deficiency 5 (C567126)
..Congenital chloride diarrhea (C536210)
..Copper deficiency, familial benign (C535468)
..Costeff optic atrophy syndrome (C535311)
..Coumarin Resistance (C563039)
..Coumarin Sensitivity (C567276)
..CREATINE PHOSPHOKINASE, ELEVATED SERUM (OMIM:123320)
..Cytochrome-c Oxidase Deficiency (D030401) 2
..Deafness hyperuricemia neurologic ataxia (C535995)
..Deoxyribose-5-Phosphate Aldolase Deficiency (C565112)
..Diarrhea 3, Secretory Sodium, Congenital (C562576)
..Diarrhea 3, Secretory Sodium, Congenital, Syndromic (C567490)
..Diarrhea, Glucose-Stimulated Secretory, with Common Variable Immunodeficiency (C565099)
..Dihydropyrimidinase Deficiency (C562815)
..Diphenylhydantoin, Defect in Hydroxylation of (C565044)
..Drug Metabolism, Poor, CYP2C19-Related (C563703)
..Drug Metabolism, Poor, CYP2D6-Related (C563835)
..Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency (C562657)
..Enterokinase Deficiency (C562649)
..Ethanolaminosis (C562651)
..Familial gynecomastia, due to increased aromatase activity (C000591739)
..Finnish lethal neonatal metabolic syndrome (C537934)
..Fumaric aciduria (C538191)
..Glucocorticoid Receptor Deficiency (C564221)
..Glutamate formiminotransferase deficiency (C537425)
..Glycoprotein Storage Disease (C565538)
..Glyoxalase II Deficiency (C564215)
..Growth Factors, Combined Defect of (C565529)
..HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY (OMIM:613470)
..HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY (OMIM:235700)
..Hyaluronan Metabolism, Defect in (C565742)
..Hyperbilirubinemia, Hereditary (D006933) 7
..Hypercalcemia, Idiopathic, of Infancy (C562581)
..HYPERCHLORHIDROSIS, ISOLATED (OMIM:143860)
..Hypoadiponectinemia (C567258)
..Hypokalemia, Familial (C562654)
..Hypoproteinemia, Hypercatabolic (C565476)
..Inosine Triphosphatase Deficiency (C564127)
..Intrinsic Factor and R Binder, Combined Congenital Deficiency of (C565461)
..Kallikrein, Decreased Urinary Activity of (C563653)
..L-Gulonolactone Oxidase, Nonfunctional (C565486)
..Lactate Dehydrogenase B Deficiency (C563641)
..Lactic Aciduria due to D-Lactic Acid (C565446)
..Leukotriene C4 Synthase Deficiency (C565439)
..Lipid Metabolism, Inborn Errors (D008052) 135
..LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:609016)
..Lysosomal Storage Diseases (D016464) 106
..Malonic aciduria (C535702)
..Mannose 6-Phosphate Receptor Recognition Defect, Lebanese Type (C563601)
..Mannose-Binding Protein Deficiency (C563602)
..Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency (C566566)
..Metal Metabolism, Inborn Errors (D008664) 55
..Methemoglobin Reductase Deficiency (C563171)
..Methylcobalamin Deficiency, CblG Type (C565394)
..Methylmalonyl-Coenzyme A mutase deficiency (C537573)
..Mitochondrial Complex II Deficiency (C565375)
..Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive (C567624)
..Myeloperoxidase Deficiency (C562864)
..N acetyltransferase deficiency (C536107)
..Pancreatic Insufficiency, Combined Exocrine (C564907)
..Peroxisomal Disorders (D018901) 39
..Phenacetin O-Deethylase, Deficiency of (C565127)
..Phenol sulfotransferase deficiency (C537895)
..Phosphoglycerate Kinase 1 Deficiency (C567067)
..Porphyrias (D011164) 18
..Progeria (D011371) 11
..Proguanil, Poor Metabolism of (C563704)
..Purine-Pyrimidine Metabolism, Inborn Errors (D011686) 24
..Renal Tubular Transport, Inborn Errors (D015499) 76
..Retinol-Binding Protein Deficiency (C566711)
..Steroid Metabolism, Inborn Errors (D043202) 34
..Stomatocytosis I (C566111)
..Stomatocytosis II (C566110)
..Succinic Acidemia (C563952)
..THYROTROPIN-RELEASING HORMONE DEFICIENCY (OMIM:275120)
..Transcobalamin I Deficiency (C562798)
..Trimethylaminuria (C536561)
..Warfarin Sensitivity (C567080)
..Weinstein Kliman Scully syndrome (C536688)
..Wiedemann Oldigs Oppermann syndrome (C536705)
..Xanthinuria, Type I (C562584)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

8907

Name:

Phosphoglycerate Kinase 1 Deficiency

Definition:

Alternative IDs:

OMIM:300653

ParentIDs:

MESH:D008661|MESH:D040181

TreeNumbers:

C16.320.322/C567067 |C16.320.565/C567067 |C18.452.648/C567067

Synonyms:

PGK1 Deficiency |PGK Deficiency |Phosphoglycerate Kinase Deficiency

Slim Mappings:

Genetic disease (inborn)|Metabolic disease

Reference:

MedGen: C567067
MeSH: C567067
OMIM: 300653;

Genes: PGK1;

Phenotypes

1	HP:0001419	X-linked recessive inheritance
2	HP:0001251	Ataxia
3	HP:0000750	Delayed speech and language development
4	HP:0000712	Emotional lability
5	HP:0003546	Exercise intolerance
6	HP:0003710	Exercise-induced muscle cramps
7	HP:0008305	Exercise-induced myoglobinuria
8	HP:0001263	Global developmental delay	HP:0040284
9	HP:0001878	Hemolytic anemia	HP:0040284
10	HP:0001249	Intellectual disability
11	HP:0002076	Migraine
12	HP:0003198	Myopathy	HP:0040284
13	HP:0003812	Phenotypic variability
14	HP:0000083	Renal insufficiency	HP:0040283
15	HP:0001923	Reticulocytosis
16	HP:0000556	Retinal dystrophy	HP:0040283
17	HP:0003201	Rhabdomyolysis
18	HP:0001250	Seizure
19	HP:0000572	Visual loss	HP:0040283

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_000291.3(PGK1):c.140T>A (p.Ile47Asn)	5230	PGK1	Pathogenic	137852536	RCV000010630;	N	MedGen:C1970848,OMIM:300653	X	77369264	77369264	NM_000291.3:c.140T>A	NP_000282.1:p.Ile47Asn	NC_000023.10:g.77369264T>A	OMIM Allelic Variant:311800.0011	C1970848 300653 Phosphoglycerate kinase 1 deficiency
NM_000291.3(PGK1):c.263T>C (p.Leu88Pro)	5230	PGK1	Pathogenic	137852531	RCV000010624;	N	MedGen:C1970848,OMIM:300653	X	77369387	77369387	NM_000291.3:c.263T>C	NP_000282.1:p.Leu88Pro	NC_000023.10:g.77369387T>C	OMIM Allelic Variant:311800.0005	C1970848 300653 Phosphoglycerate kinase 1 deficiency
NM_000291.3(PGK1):c.473G>T (p.Gly158Val)	5230	PGK1	Pathogenic	137852532	RCV000010625;	N	MedGen:C1970848,OMIM:300653	X	77372864	77372864	NM_000291.3:c.473G>T	NP_000282.1:p.Gly158Val	NC_000023.10:g.77372864G>T	OMIM Allelic Variant:311800.0006	C1970848 300653 Phosphoglycerate kinase 1 deficiency
NM_000291.3(PGK1):c.491A>T (p.Asp164Val)	5230	PGK1	Pathogenic	137852538	RCV000010632;	N	MedGen:C1970848,OMIM:300653	X	77372882	77372882	NM_000291.3:c.491A>T	NP_000282.1:p.Asp164Val	NC_000023.10:g.77372882A>T	OMIM Allelic Variant:311800.0013	C1970848 300653 Phosphoglycerate kinase 1 deficiency
NM_000291.3(PGK1):c.574_576delAAG (p.Lys192del)	5230	PGK1	Pathogenic	431905502	RCV000010627;	N	MedGen:C1970848,OMIM:300653	X	77373600	77373602	NM_000291.3:c.574_576delAAG	NP_000282.1:p.Lys192del	NC_000023.10:g.77373600_77373602delAAG	OMIM Allelic Variant:311800.0008	C1970848 300653 Phosphoglycerate kinase 1 deficiency
NM_000291.3(PGK1):c.617G>C (p.Arg206Pro)	5230	PGK1	Pathogenic	137852529	RCV000010621;	N	MedGen:C1970848,OMIM:300653	X	77373643	77373643	NM_000291.3:c.617G>C	NP_000282.1:p.Arg206Pro	NC_000023.10:g.77373643G>C	OMIM Allelic Variant:311800.0002	C1970848 300653 Phosphoglycerate kinase 1 deficiency
NM_000291.3(PGK1):c.756+5G>A	5230	PGK1	Pathogenic	431905503	RCV000010633;	N	MedGen:C1970848,OMIM:300653	X	77378451	77378451	NM_000291.3:c.756+5G>A		NC_000023.10:g.77378451G>A	OMIM Allelic Variant:311800.0014	C1970848 300653 Phosphoglycerate kinase 1 deficiency
NM_000291.3(PGK1):c.758T>C (p.Ile253Thr)	5230	PGK1	Pathogenic	137852534	RCV000010628;	N	MedGen:C1970848,OMIM:300653	X	77378693	77378693	NM_000291.3:c.758T>C	NP_000282.1:p.Ile253Thr	NC_000023.10:g.77378693T>C	OMIM Allelic Variant:311800.0009	C1970848 300653 Phosphoglycerate kinase 1 deficiency
NM_000291.3(PGK1):c.796_798delGTCinsATG (p.Val266Met)	5230	PGK1	Pathogenic	431905501	RCV000010622;	N	MedGen:C1970848,OMIM:300653	X	77378731	77378733	NM_000291.3:c.796_798delGTCinsATG	NP_000282.1:p.Val266Met	NC_000023.10:g.77378731_77378733delGTCinsATG	OMIM Allelic Variant:311800.0003	C1970848 300653 Phosphoglycerate kinase 1 deficiency
NM_000291.3(PGK1):c.802G>A (p.Asp268Asn)	5230	PGK1	Pathogenic	137852528	RCV000010620;	N	MedGen:C1970848,OMIM:300653	X	77378737	77378737	NM_000291.3:c.802G>A	NP_000282.1:p.Asp268Asn	NC_000023.10:g.77378737G>A	OMIM Allelic Variant:311800.0001	C1970848 300653 Phosphoglycerate kinase 1 deficiency
NM_000291.3(PGK1):c.854A>T (p.Asp285Val)	5230	PGK1	Pathogenic	137852535	RCV000010629;	N	MedGen:C1970848,OMIM:300653	X	77378789	77378789	NM_000291.3:c.854A>T	NP_000282.1:p.Asp285Val	NC_000023.10:g.77378789A>T	OMIM Allelic Variant:311800.0010	C1970848 300653 Phosphoglycerate kinase 1 deficiency
NM_000291.3(PGK1):c.946T>C (p.Cys316Arg)	5230	PGK1	Pathogenic	137852533	RCV000010626;	N	MedGen:C1970848,OMIM:300653	X	77380380	77380380	NM_000291.3:c.946T>C	NP_000282.1:p.Cys316Arg	NC_000023.10:g.77380380T>C	OMIM Allelic Variant:311800.0007	C1970848 300653 Phosphoglycerate kinase 1 deficiency
NM_000291.3(PGK1):c.959G>A (p.Ser320Asn)	5230	PGK1	Pathogenic	137852537	RCV000010631;	N	MedGen:C1970848,OMIM:300653	X	77380393	77380393	NM_000291.3:c.959G>A	NP_000282.1:p.Ser320Asn	NC_000023.10:g.77380393G>A	OMIM Allelic Variant:311800.0012	C1970848 300653 Phosphoglycerate kinase 1 deficiency
NM_000291.3(PGK1):c.1132A>C (p.Thr378Pro)	5230	PGK1	Pathogenic	137852539	RCV000010634;	N	MedGen:C1970848,OMIM:300653	X	77380841	77380841	NM_000291.3:c.1132A>C	NP_000282.1:p.Thr378Pro	NC_000023.10:g.77380841A>C	OMIM Allelic Variant:311800.0015	C1970848 300653 Phosphoglycerate kinase 1 deficiency