MCID: MTC016
MIFTS: 30

Mitochondrial Neurogastrointestinal Encephalopathy Disease

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

Aliases & Classifications for Mitochondrial Neurogastrointestinal Encephalopathy Disease

MalaCards integrated aliases for Mitochondrial Neurogastrointestinal Encephalopathy Disease:

Name: Mitochondrial Neurogastrointestinal Encephalopathy Disease 24 25
Mitochondrial Neurogastrointestinal Encephalopathy Syndrome 24 53 25 73
Thymidine Phosphorylase Deficiency 24 53 25
Mngie Syndrome 24 53 25
Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, and Intestinal Pseudo-Obstruction 53 25
Myoneurogastrointestinal Encephalopathy Syndrome 53 25
Oculogastrointestinal Muscular Dystrophy 53 25
Mngie 53 55
Ogimd 53 25
Polip 53 25
Mitochondrial Myopathy with Sensorimotor Polyneuropathy, Ophthalmoplegia, and Pseudo-Obstruction 25
Visceral Myopathy Familial External Ophthalmoplegia 73
Thymidine Phosphorylase 13
Mngie Disease 25
Mepop 25

Classifications:



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Summaries for Mitochondrial Neurogastrointestinal Encephalopathy Disease

NIH Rare Diseases : 53 Mitochondrial neurogastrointestinal encephalopathy (MNGIE) syndrome is a condition that mainly affects the digestive system and nervous system. Signs and symptoms 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 and result in early satiety, nausea, dysphagia, gastroesophageal reflux, vomiting after eating (postprandial emesis), episodic abdominal pain and/or distention, and diarrhea . Affected people may also have cachexia, dropped eyelids or weakness of other muscles of the eyes, peripheral neuropathy (manifesting as tingling, numbness, and pain (paresthesias) symmetric weakness, that mainly affect the lower extremities) 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. MNGIE is caused by variations (mutations) in the TYMP gene, important for allowing adequate levels of thymidine in the mitochondria.  Inheritance is autosomal recessive. Diagnosis is confirmed by detecting the TYMP gene variations or the increased levels of thymidine and deoxyuridine in blood. Treatment depends on the problems that present, and may include management of the  swallowing difficulties and airway protection; specific medication for neuropathic symptoms and for  nausea and vomiting. Other treatment may include nutritional support,  antibiotics for intestinal bacterial overgrowth, special education and and physical therapy. It is recommended to avoid medication that interfere with mitochondrial function, such as valproate, phenytoin, chloramphenicol, linezolid, aminoglycosides, and tetracycline.

MalaCards based summary : Mitochondrial Neurogastrointestinal Encephalopathy Disease, also known as mitochondrial neurogastrointestinal encephalopathy syndrome, is related to mitochondrial dna depletion syndrome 1 and mitochondrial neurogastrointestinal encephalomyopathy, 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 rituximab and alemtuzumab have been mentioned in the context of this disorder. Affiliated tissues include brain and eye.

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 : 76 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 24)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
rituximab Approved Phase 2 174722-31-7 10201696
2
alemtuzumab Approved, Investigational Phase 2 216503-57-0
3
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
4
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
5
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
6
Busulfan Approved, Investigational Phase 2 55-98-1 2478
7
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
8
Cysteamine Approved, Investigational Phase 2 60-23-1 6058
9
Tocopherol Approved, Investigational, Nutraceutical Phase 2 1406-66-2 14986
10
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
11 Alkylating Agents Phase 2
12 Thioctic Acid Phase 2
13 Tocopherols Phase 2
14 Tocotrienols Phase 2
15 N-monoacetylcystine Phase 2
16 Vitamins Phase 2
17 Immunosuppressive Agents Phase 2
18 Antilymphocyte Serum Phase 2
19 Antimetabolites Phase 2
20 Antimetabolites, Antineoplastic Phase 2
21 Antineoplastic Agents, Alkylating Phase 2
22 Tocotrienol Investigational, Nutraceutical Phase 2 6829-55-6
23 Alpha-lipoic Acid Nutraceutical Phase 2
24 Ubiquinone

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis Recruiting NCT02171104 Phase 2 IMD Preparative Regimen;Osteopetrosis Only Preparative Regimen;Osteopetrosis Haploidentical Only Preparative Regimen;cALD SR-A (Standard-Risk, Regimen A);cALD SR-B (Standard-Risk, Regimen B);cALD HR-D (High-Risk, Regimen C);cALD HR-D (High-Risk, Regimen D)
2 A Long-term Extension of Study RP103-MITO-001 (NCT02023866) to Assess Cysteamine Bitartrate Delayed-release Capsules (RP103) in Children With Inherited Mitochondrial Disease Terminated NCT02473445 Phase 2 Cysteamine Bitartrate
3 MNGIE Allogeneic Hematopoietic Stem Cell Transplant Safety Study Recruiting NCT02427178 Phase 1
4 The Natural History Study of Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE) Recruiting NCT01694953
5 North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) Recruiting NCT01694940
6 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

Anatomical Context for Mitochondrial Neurogastrointestinal Encephalopathy Disease

MalaCards organs/tissues related to Mitochondrial Neurogastrointestinal Encephalopathy Disease:

41
Brain, Eye

Publications for Mitochondrial Neurogastrointestinal Encephalopathy Disease

Articles related to Mitochondrial Neurogastrointestinal Encephalopathy Disease:

# Title Authors Year
1
Diagnosis of mitochondrial neurogastrointestinal encephalopathy disease in gastrointestinal biopsies. ( 23453626 )
2013
2
Biochemical abnormalities in a patient with thymidine phosphorylase deficiency with fatal outcome. ( 20151198 )
2010
3
Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice. ( 19028666 )
2009
4
Thymidine phosphorylase deficiency causes MNGIE: an autosomal recessive mitochondrial disorder. ( 15571233 )
2004
5
Increased blood-brain barrier permeability with thymidine phosphorylase deficiency. ( 15562405 )
2004
6
Elevated plasma deoxyuridine in patients with thymidine phosphorylase deficiency. ( 12646159 )
2003
7
Site-specific somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase deficiency. ( 12813027 )
2003
8
Deoxyuridine accumulation in urine in thymidine phosphorylase deficiency (MNGIE). ( 12638947 )
2002
9
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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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