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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

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: pyruvate dehydrogenase deficiency (MONDO:0019169)
..Starting node ..pyruvate dehydrogenase phosphatase deficiency ()
Child Nodes:
Sister Nodes:
..lipoic acid synthetase deficiency () L: 00479;
..pyruvate dehydrogenase E1-alpha deficiency () L: 00442;
..pyruvate dehydrogenase E1-beta deficiency () L: 00478;
..pyruvate dehydrogenase E2 deficiency () L: 00475;
..pyruvate dehydrogenase E3 deficiency ()
..pyruvate dehydrogenase E3-binding protein deficiency ()
..pyruvate dehydrogenase phosphatase deficiency () L: 00477;
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

12120

Name:

pyruvate dehydrogenase phosphatase deficiency

Definition:

Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by lactic acidemia in the neonatal period.

Alternative IDs:

608782

ParentIDs:

TreeNumbers:

Synonyms:

lactic acidemia with pyruvate dehydrogenase phosphatase deficiency; PDH phosphatase deficiency; PDHPD; pyruvate dehydrogenase phosphatase deficiency; pyruvate dehydrogenase phosphatase deficiency; PDHPD

Slim Mappings:

Reference:

MedGen:
MeSH:
OMIM: 608782;
MSeqDR : 00477;
Genes: PDP1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003593	Infantile onset
3	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex
4	HP:0002015	Dysphagia NAMDC: Dysphagia
5	HP:0002066	Gait ataxia
6	HP:0001290	Generalized hypotonia
7	HP:0001263	Global developmental delay NAMDC: Mental retardation
8	HP:0001263	Global developmental delay NAMDC: Delayed development (evidence of at least one of A through F)
9	HP:0001249	Intellectual disability
10	HP:0003128	Lactic acidosis
11	HP:0001252	Muscular hypotonia NAMDC: Hypotonia
12	HP:0000639	Nystagmus
13	HP:0001250	Seizures NAMDC: Seizures

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_000925.4(PDHB):c.782T>C (p.Val261Ala)	5162	PDHB	Uncertain significance	761614417	RCV001218776\|RCV001833896;	N	MONDO:MONDO:0013580,MedGen:C3279841,OMIM:614111, Orphanet:255138, Orphanet:765\|MONDO:MONDO:0012120,MedGen:C1837429,OMIM:608782, Orphanet:79246	3	58415445	58415445	3:g.58415445A>G	-
NM_000925.4(PDHB):c.501G>T (p.Gly167=)	5162	PDHB	Likely benign	759053641	RCV000896374\|RCV001275616;	N	MONDO:MONDO:0013580,MedGen:C3279841,OMIM:614111, Orphanet:255138, Orphanet:765\|MONDO:MONDO:0012120,MedGen:C1837429,OMIM:608782, Orphanet:79246	3	58416472	58416472	3:g.58416472C>A	-
NM_000925.4(PDHB):c.438G>A (p.Gly146=)	5162	PDHB	Benign	1126551	RCV000117898\|RCV000367428\|RCV000676649\|RCV001831909;	N	MedGen:CN169374\|MONDO:MONDO:0013580,MedGen:C3279841,OMIM:614111, Orphanet:255138, Orphanet:765\|MedGen:C3661900\|MONDO:MONDO:0012120,MedGen:C1837429,OMIM:608782, Orphanet:79246	3	58416535	58416535	3:g.58416535C>T	ClinGen:CA154227	CN517202 not provided;
NM_000925.4(PDHB):c.435A>G (p.Arg145=)	5162	PDHB	Benign	4264746	RCV000676650\|RCV001517918\|RCV001830474;	N	MedGen:C3661900\|MONDO:MONDO:0013580,MedGen:C3279841,OMIM:614111, Orphanet:255138, Orphanet:765\|MONDO:MONDO:0012120,MedGen:C1837429,OMIM:608782, Orphanet:79246	3	58416538	58416538	3:g.58416538T>C	-	CN517202 not provided;
NM_000925.4(PDHB):c.38G>A (p.Arg13Gln)	5162	PDHB	Uncertain significance	202185395	RCV001339391\|RCV001831053;	N	MONDO:MONDO:0013580,MedGen:C3279841,OMIM:614111, Orphanet:255138, Orphanet:765\|MONDO:MONDO:0012120,MedGen:C1837429,OMIM:608782, Orphanet:79246	3	58419499	58419499	58419499	-
NM_018444.4(PDP1):c.277G>T (p.Glu93Ter)	54704	PDP1	Pathogenic	267606938	RCV000004928;	N	MONDO:MONDO:0012120,MedGen:C1837429,OMIM:608782, Orphanet:79246	8	94934564	94934564	8:g.94934564G>T	OMIM:605993.0002,ClinGen:CA116999	C1837429 608782 Pyruvate dehydrogenase phosphatase deficiency;
NM_018444.4(PDP1):c.500dup (p.Leu167fs)	54704	PDP1	Pathogenic	1810312864	RCV001262122;	N	MONDO:MONDO:0012120,MedGen:C1837429,OMIM:608782, Orphanet:79246	8	94934784	94934785	8:g.94934784_94934785insT	OMIM:605993.0003
NM_018444.4(PDP1):c.851_853del (p.Leu284del)	54704	PDP1	Pathogenic	1554572756	RCV000004927;	N	MONDO:MONDO:0012120,MedGen:C1837429,OMIM:608782, Orphanet:79246	8	94935137	94935139	NC_000008.10:g.94935138_94935140del	ClinGen:CA658683537,OMIM:605993.0001	C1837429 608782 Pyruvate dehydrogenase phosphatase deficiency;
NM_018444.3(PDP1):c.-273T>A	54704	PDP1	Benign	4469422	RCV000367981\|RCV001653778;	N	MONDO:MONDO:0012120,MedGen:C1837429,OMIM:608782, Orphanet:79246\|MedGen:C3661900	8	94929079	94929079	8:g.94929079T>A	ClinGen:CA10654729	C1837429 608782 Pyruvate dehydrogenase phosphatase deficiency;
NM_018444.4(PDP1):c.202G>A (p.Gly68Arg)	54704	PDP1	Uncertain significance	374758737	RCV002036694\|RCV003147736;	N	MedGen:C3661900\|MONDO:MONDO:0012120,MedGen:C1837429,OMIM:608782, Orphanet:79246	8	94934489	94934489	94934489	-
NM_018444.4(PDP1):c.1355A>G (p.Lys452Arg)	54704	PDP1	Uncertain significance	749767366	RCV001225413\|RCV003132297;	N	MedGen:CN517202\|MONDO:MONDO:0012120,MedGen:C1837429,OMIM:608782, Orphanet:79246	8	94935642	94935642	8:g.94935642A>G	-
NM_018444.4(PDP1):c.*36T>C	54704	PDP1	Benign	4735258	RCV001639321\|RCV001788649;	N	MedGen:C3661900\|MONDO:MONDO:0012120,MedGen:C1837429,OMIM:608782, Orphanet:79246	8	94935937	94935937	NC_000008.10:g.94935937T>C	-	C1837429 608782 Pyruvate dehydrogenase phosphatase deficiency;
NM_018444.4(PDP1):c.*724del	54704	PDP1	Uncertain significance	886063179	RCV000395149;	N	MONDO:MONDO:0012120,MedGen:C1837429,OMIM:608782, Orphanet:79246	8	94936619	94936619	NC_000008.10:g.94936625del	ClinGen:CA10628385	C1837429 608782 Pyruvate dehydrogenase phosphatase deficiency;
NM_018444.4(PDP1):c.*898CTT[1]	54704	PDP1	Uncertain significance	756226872	RCV000261046;	N	MONDO:MONDO:0012120,MedGen:C1837429,OMIM:608782, Orphanet:79246	8	94936799	94936801	NC_000008.10:g.94936799CTT[1]	ClinGen:CA10628387	C1837429 608782 Pyruvate dehydrogenase phosphatase deficiency;
NM_018444.4(PDP1):c.*1661del	54704	PDP1	Uncertain significance	60316663	RCV000401886;	N	MONDO:MONDO:0012120,MedGen:C1837429,OMIM:608782, Orphanet:79246	8	94937550	94937550	NC_000008.10:g.94937562del	ClinGen:CA10625932	C1837429 608782 Pyruvate dehydrogenase phosphatase deficiency;
NM_018444.4(PDP1):c.1649_1650insG	54704	PDP1	Uncertain significance	886063184	RCV000293390;	N	MONDO:MONDO:0012120,MedGen:C1837429,OMIM:608782, Orphanet:79246	8	94937550	94937551	NC_000008.10:g.94937550_94937551insG	ClinGen:CA10628396	C1837429 608782 Pyruvate dehydrogenase phosphatase deficiency;