MEPOP
MCID: MTC016
MIFTS: 27

Mitochondrial Neurogastrointestinal Encephalopathy Disease (MEPOP) malady

Categories: Rare diseases, Genetic diseases, Gastrointestinal diseases, Neuronal diseases, Muscle diseases

Aliases & Classifications for Mitochondrial Neurogastrointestinal Encephalopathy Disease

Aliases & Descriptions for Mitochondrial Neurogastrointestinal Encephalopathy Disease:

Name: Mitochondrial Neurogastrointestinal Encephalopathy Disease 23 24 25
Mitochondrial Neurogastrointestinal Encephalopathy Syndrome 23 50 24 25 69
Thymidine Phosphorylase Deficiency 23 50 24 25
Mngie Syndrome 23 50 24 25
Myoneurogastrointestinal Encephalopathy Syndrome 50 24 25
Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, and Intestinal Pseudo-Obstruction 50 25
Oculogastrointestinal Muscular Dystrophy 50 25
Mngie 50 52
Ogimd 50 25
Polip 50 25
Mitochondrial Myopathy with Sensorimotor Polyneuropathy, Ophthalmoplegia, and Pseudo-Obstruction 25
Visceral Myopathy Familial External Ophthalmoplegia 69
Thymidine Phosphorylase 13
Mngie Disease 25
Mepop 25

Classifications:



Summaries for Mitochondrial Neurogastrointestinal Encephalopathy Disease

NIH Rare Diseases : 50 mitochondrial neurogastrointestinal encephalopathy (mngie) syndrome is a condition that particularly affects the digestive system and nervous system. signs and symptoms of this condition most often begin by age 20 and worsen with time. almost all people with mngie have gastrointestinal dysmotility, in which the muscles and nerves of the digestive system do not move food through the digestive tract efficiently. affected individuals also experience peripheral neuropathy, droopy eyelids (ptosis), weakness of the muscles that control eye movement (ophthalmoplegia), and hearing loss. leukoencephalopathy, which is the deterioration of a type of brain tissue known as white matter, is a hallmark of mngie; however it does not usually cause symptoms in people with this disorder. mutations in the tymp gene cause mngie, and this condition is inherited in an autosomal recessive pattern. last updated: 9/24/2014

MalaCards based summary : Mitochondrial Neurogastrointestinal Encephalopathy Disease, also known as mitochondrial neurogastrointestinal encephalopathy syndrome, is related to mitochondrial dna depletion syndrome 1 and polg-related mitochondrial dna depletion syndrome, mngie form, and has symptoms including abdominal pain, vomiting and intermittent diarrhea. An important gene associated with Mitochondrial Neurogastrointestinal Encephalopathy Disease is TYMP (Thymidine Phosphorylase). The drugs Cysteamine and Acetylcysteine have been mentioned in the context of this disorder. Affiliated tissues include eye and brain.

Genetics Home Reference : 25 Mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease is a condition that affects several parts of the body, particularly the digestive system and nervous system. The major features of MNGIE disease can appear anytime from infancy to adulthood, but signs and symptoms most often begin by age 20. The medical problems associated with this disorder worsen with time.

Wikipedia : 71 Mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE) is a rare autosomal recessive... more...

GeneReviews: NBK1179

Related Diseases for Mitochondrial Neurogastrointestinal Encephalopathy Disease

Graphical network of the top 20 diseases related to Mitochondrial Neurogastrointestinal Encephalopathy Disease:



Diseases related to Mitochondrial Neurogastrointestinal Encephalopathy Disease

Symptoms & Phenotypes for Mitochondrial Neurogastrointestinal Encephalopathy Disease

UMLS symptoms related to Mitochondrial Neurogastrointestinal Encephalopathy Disease:


abdominal pain, vomiting, intermittent diarrhea, chronic constipation, diffuse abdominal pain

Drugs & Therapeutics for Mitochondrial Neurogastrointestinal Encephalopathy Disease

Drugs for Mitochondrial Neurogastrointestinal Encephalopathy Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 23)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cysteamine Approved, Investigational Phase 2 60-23-1 6058
2
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
3
alemtuzumab Approved, Investigational Phase 2 216503-57-0
4
Busulfan Approved, Investigational Phase 2 55-98-1 2478
5
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
6
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
7
rituximab Approved Phase 2 174722-31-7 10201696
8
Thiotepa Approved Phase 2 52-24-4 5453
9
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
10 Alkylating Agents Phase 2
11 Antilymphocyte Serum Phase 2
12 Antimetabolites Phase 2
13 Antimetabolites, Antineoplastic Phase 2
14 Antineoplastic Agents, Alkylating Phase 2
15 Immunosuppressive Agents Phase 2
16 N-monoacetylcystine Phase 2
17 Thioctic Acid Phase 2
18 Tocopherols Phase 2
19 Tocotrienols Phase 2
20 Vitamins Phase 2
21 Alpha-lipoic Acid Nutraceutical Phase 2
22 Tocopherol Nutraceutical Phase 2
23 Tocotrienol Nutraceutical Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase
1 A Long-Term Extension Study of RP103-MITO-001 (NCT02023866) to Assess RP103 in Children With Inherited Mitochondrial Disease Completed NCT02473445 Phase 2
2 Open-Label, Dose-Escalating Study Assessing Safety, Tolerability, Efficacy, of RP103 in Mitochondrial Disease Completed NCT02023866 Phase 2
3 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis Recruiting NCT02171104 Phase 2
4 MNGIE Allogeneic Hematopoietic Stem Cell Transplant Safety Study Recruiting NCT02427178 Phase 1
5 The Natural History Study of Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE) Recruiting NCT01694953
6 North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) Recruiting NCT01694940
7 Tissue Sample Study for Mitochondrial Disorders Enrolling by invitation NCT01803906

Search NIH Clinical Center for Mitochondrial Neurogastrointestinal Encephalopathy Disease

Genetic Tests for Mitochondrial Neurogastrointestinal Encephalopathy Disease

Genetic tests related to Mitochondrial Neurogastrointestinal Encephalopathy Disease:

id Genetic test Affiliating Genes
1 Mitochondrial Neurogastrointestinal Encephalopathy Disease 24 TYMP

Anatomical Context for Mitochondrial Neurogastrointestinal Encephalopathy Disease

MalaCards organs/tissues related to Mitochondrial Neurogastrointestinal Encephalopathy Disease:

39
Eye, Brain

Publications for Mitochondrial Neurogastrointestinal Encephalopathy Disease

Articles related to Mitochondrial Neurogastrointestinal Encephalopathy Disease:

id Title Authors Year
1
Diagnosis of mitochondrial neurogastrointestinal encephalopathy disease in gastrointestinal biopsies. ( 23453626 )
2013
2
Mitochondrial Neurogastrointestinal Encephalopathy Disease ( 20301358 )
1993

Variations for Mitochondrial Neurogastrointestinal Encephalopathy Disease

Expression for Mitochondrial Neurogastrointestinal Encephalopathy Disease

Search GEO for disease gene expression data for Mitochondrial Neurogastrointestinal Encephalopathy Disease.

Pathways for Mitochondrial Neurogastrointestinal Encephalopathy Disease

GO Terms for Mitochondrial Neurogastrointestinal Encephalopathy Disease

Sources for Mitochondrial Neurogastrointestinal Encephalopathy Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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