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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: Diseases (C)
Parent Node: Mitochondrial neurogastrointestinal encephalopathy syndrome (C537477)
..Starting node ..MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
Child Nodes:
Sister Nodes:
..MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
..MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) (OMIM:613662)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

7312

Name:

MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE)

Definition:

Alternative IDs:

ParentIDs:

MESH:C537477

TreeNumbers:

C05.651.460.620/C537477/603041 |C06.405.469.531.492.500/C537477/603041 |C10.228.140.163.540/C537477/603041 |C10.668.491.500.500/C537477/603041 |C18.452.132.540/C537477/603041 |C18.452.660.560.620/C537477/603041

Synonyms:

MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, TYMP-RELATED |MNGIE, TYMP-RELATED |MTDPS1 |MYONEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME |POLIP SYNDROME |POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION

Slim Mappings:

Digestive system disease|Metabolic disease|Musculoskeletal disease|Nervous system disease

Reference:

MedGen: 603041
MeSH: 603041
OMIM: 603041;

Genes: TYMP;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0002027	Abdominal pain
3	HP:0001284	Areflexia
4	HP:0004326	Cachexia
5	HP:0002019	Constipation
6	HP:0003688	Cytochrome C oxidase-negative muscle fibers
7	HP:0100613	Death in early adulthood
8	HP:0003693	Distal amyotrophy
9	HP:0002460	Distal muscle weakness
10	HP:0002936	Distal sensory impairment
11	HP:0002579	Gastrointestinal dysmotility
12	HP:0002578	Gastroparesis
13	HP:0007103	Hypointensity of cerebral white matter on MRI
14	HP:0002254	Intermittent diarrhea
15	HP:0003128	Lactic acidosis
16	HP:0002352	Leukoencephalopathy
17	HP:0002024	Malabsorption
18	HP:0004395	Malnutrition
19	HP:0003737	Mitochondrial myopathy
20	HP:0003689	Multiple mitochondrial DNA deletions
21	HP:0003676	Progressive
22	HP:0000590	Progressive external ophthalmoplegia
23	HP:0000508	Ptosis
24	HP:0003200	Ragged-red muscle fibers
25	HP:0000407	Sensorineural hearing impairment
26	HP:0003548	Subsarcolemmal accumulations of abnormally shaped mitochondria
27	HP:0002013	Vomiting

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
m.8313G>A	4566	MT-TK	Pathogenic	118192101	RCV000010200;	N	MedGen:C0872218,OMIM:603041	M	8313	8313	-	-	NC_012920.1:m.8313G>A	OMIM Allelic Variant:590060.0004	C0872218 603041 Myoneural gastrointestinal encephalopathy syndrome
NM_002693.2(POLG):c.1760C>T (p.Pro587Leu)	5428	POLG	Pathogenic;Uncertain significance	113994096	RCV000186576; RCV000014456; RCV000020473; RCV000188666; RCV000193529;	N	MedGen:C0872218,OMIM:603041; MedGen:C1850303,OMIM:258450,ORPHA:254886; MedGen:C3150914,OMIM:613662; MedGen:CN169374; MedGen:CN221809	15	89868870	89868870	NM_002693.2:c.1760C>T	NP_002684.1:p.Pro587Leu	NC_000015.9:g.89868870G>A	OMIM Allelic Variant:174763.0011	C1850303 258450 Cerebellar ataxia infantile with progressive external ophthalmoplegia; C3150914 613662 Mitochondrial DNA depletion syndrome 4B, MNGIE type; C0872218 603041 Myoneural gastrointestinal encephalopathy syndrome; CN221809 not provided; CN1693
NM_002693.2(POLG):c.752C>T (p.Thr251Ile)	5428	POLG	Pathogenic;Uncertain significance	113994094	RCV000014447; RCV000184009; RCV000014448; RCV000020484; RCV000188641; RCV000194055;	N	MedGen:C0205710,OMIM:203700,ORPHA:726,SNOMED CT:20415001; MedGen:C0872218,OMIM:603041; MedGen:C1850303,OMIM:258450,ORPHA:254886; MedGen:C3150914,OMIM:613662; MedGen:CN169374; MedGen:CN221809	15	89873415	89873415	NM_002693.2:c.752C>T	NP_002684.1:p.Thr251Ile	NC_000015.9:g.89873415G>A	OMIM Allelic Variant:174763.0007	C1850303 258450 Cerebellar ataxia infantile with progressive external ophthalmoplegia; C3150914 613662 Mitochondrial DNA depletion syndrome 4B, MNGIE type; C0872218 603041 Myoneural gastrointestinal encephalopathy syndrome; CN221809 not provided; CN1693