MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

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: congenital anemia (MONDO:0000577)
Parent Node: constitutional neutropenia with extra-hematopoietic manifestations (MONDO:0018032)
Parent Node: constitutional sideroblastic anemia (MONDO:0020099)
Parent Node: metabolic disease with intestinal involvement (MONDO:0015188)
Parent Node: mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA (MONDO:0016792)
Parent Node: syndrome with hypoparathyroidism (MONDO:0015895)
..Starting node ..Pearson syndrome ()
Child Nodes:
Sister Nodes:
..22q11.2 deletion syndrome ()
..Bartter syndrome with hypocalcemia ()
..Dahlberg-borer-Newcomer syndrome ()
..hypoparathyroidism-deafness-renal disease syndrome ()
..hypoparathyroidism-retardation-dysmorphism syndrome ()
..Kearns-Sayre syndrome () L: 00143;
..Kenny-Caffey syndrome ()
..long chain 3-hydroxyacyl-CoA dehydrogenase deficiency () L: 00474;
..Pearson syndrome () L: 00169;
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

10797

Name:

Pearson syndrome

Definition:

Pearson syndrome is characterized by refractory sideroblastic anemia, vacuolization of bone marrow precursors and exocrine pancreatic dysfunction.

Alternative IDs:

557000

ParentIDs:

TreeNumbers:

Synonyms:

Pearson marrow-pancreas syndrome; Pearson's marrow/pancreas syndrome; Pearson's syndrome; sideroblastic Anemia with marrow cell vacuolization and exocrine pancreatic dysfunction; sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction (formerly)

Slim Mappings:

Reference:

MedGen:
MeSH:
OMIM: 557000;
MSeqDR : 00169;
Genes:

Phenotypes

1	HP:0001427	Mitochondrial inheritance
2	HP:0003344	3-Methylglutaric aciduria
3	HP:0008336	Complex organic aciduria
4	HP:0000819	Diabetes mellitus NAMDC: Diabetes mellitus
5	HP:0001508	Failure to thrive
6	HP:0003128	Lactic acidosis
7	HP:0002024	Malabsorption
8	HP:0001942	Metabolic acidosis
9	HP:0100732	Pancreatic fibrosis
10	HP:0004864	Refractory sideroblastic anemia
11	HP:0001994	Renal Fanconi syndrome
12	HP:0001518	Small for gestational age
13	HP:0100651	Type I diabetes mellitus

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_000018.4(ACADVL):c.325G>A (p.Val109Met)	37	ACADVL	Uncertain significance	754207297	RCV000626269\|RCV002529784;	N	MONDO:MONDO:0010797,MedGen:C0342784,OMIM:557000, Orphanet:699\|MONDO:MONDO:0008723,MedGen:C3887523,OMIM:201475, Orphanet:26793	17	7124132	7124132	17:g.7124132G>A	ClinGen:CA8337650	C0342784 557000 Pearson marrow-pancreas syndrome;
NC_012920.1:m.8480_13440del	-1	covers 12 genes, none of which curated to show dos	Pathogenic	-1	RCV000790614;	N	MONDO:MONDO:0010797,MedGen:C0342784,OMIM:557000, Orphanet:699	M	8480	13440	m.8480_13440del	-
NC_012920.1:m.8350_13450del	-1	covers 13 genes, none of which curated to show dos	Pathogenic	-1	RCV000790615;	N	MONDO:MONDO:0010797,MedGen:C0342784,OMIM:557000, Orphanet:699	M	8350	13450	m.8350_13450del	-
Single allele	-1	MT-TL2;MT-TS2;MT-CYB;MT-ND4;MT-ND5;MT-ND6;MT-TE;MT	Pathogenic	-1	RCV003223355;	N	MONDO:MONDO:0010797,MedGen:C0342784,OMIM:557000, Orphanet:699	M	10947	15537	NC_000007.13:g.30999250_31006943delinsAGAGATCCA	-	C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;

MSeqDR Portal

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen