MCID: MTC016
MIFTS: 28

Mitochondrial Neurogastrointestinal Encephalopathy Disease malady

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

Aliases & Classifications for Mitochondrial Neurogastrointestinal Encephalopathy Disease

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Aliases & Descriptions for Mitochondrial Neurogastrointestinal Encephalopathy Disease:

Name: Mitochondrial Neurogastrointestinal Encephalopathy Disease 21 22 23
Mitochondrial Neurogastrointestinal Encephalopathy Syndrome 21 45 22 23 65
Thymidine Phosphorylase Deficiency 21 45 22 23
Mngie Syndrome 21 45 22 23
Myoneurogastrointestinal Encephalopathy Syndrome 45 22 23
Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, and Intestinal Pseudo-Obstruction 45 23
Oculogastrointestinal Muscular Dystrophy 45 23
 
Ogimd 45 23
Polip 45 23
Mngie 45 47
Mitochondrial Myopathy with Sensorimotor Polyneuropathy, Ophthalmoplegia, and Pseudo-Obstruction 23
Visceral Myopathy Familial External Ophthalmoplegia 65
Mngie Disease 23
Mepop 23

Classifications:



External Ids:

UMLS65 C0872218, C1848586

Summaries for Mitochondrial Neurogastrointestinal Encephalopathy Disease

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NIH Rare Diseases:45 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 mitochondrial dna depletion syndrome 8a, and has symptoms including diffuse abdominal pain, chronic constipation and intermittent diarrhea. An important gene associated with Mitochondrial Neurogastrointestinal Encephalopathy Disease is TYMP (Thymidine Phosphorylase). Affiliated tissues include brain, eye and pancreas.

Genetics Home Reference:23 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.

GeneReviews summary for NBK1179

Related Diseases for Mitochondrial Neurogastrointestinal Encephalopathy Disease

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



Diseases related to mitochondrial neurogastrointestinal encephalopathy disease

Symptoms for Mitochondrial Neurogastrointestinal Encephalopathy Disease

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UMLS symptoms related to Mitochondrial Neurogastrointestinal Encephalopathy Disease:


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

Drugs & Therapeutics for Mitochondrial Neurogastrointestinal Encephalopathy Disease

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Cysteamineapproved, investigationalPhase 2, Phase 32360-23-16058
Synonyms:
(2-Mercaptoethyl)amine
(Mercaptoethyl)ammonium toluene-p-sulphonate
.beta.-Mercaptoethylamine
1-Amino-2-mercaptoethylamine
139720-70-0
156-57-0 (hydrochloride)
16904-32-8 (di-hydrochloride)
2-AMINO-ETHANETHIOL
2-AMINO-ethanethiol
2-Amino-1-ethanethiol
2-Aminoethanethiol
2-Aminoethyl mercaptan
2-Mercaptoethanamine
2-Mercaptoethylamine
2-Mercaptoethylamine, polymer-bound
27761-19-9 (tartrate (1:1))
2DFDA1F8-7010-4225-8280-AB1C4C43F546
30070_FLUKA
30070_SIGMA
3037-04-5
3037-04-5 (tosylate)
42954-15-4 (hydrobromide)
60-23-1
60-23-1 (Parent)
641022_ALDRICH
93965-19-6 (maleate (1:1))
A0648
AC1L1LPL
AC1Q54NL
AKOS003793343
Aminoethyl mercaptan
Becaptan
C-9500
C01678
C2H7NS
CASH
CCRIS 3083
CHEBI:17141
CHEMBL602
CID6058
CYSTEAMINE
Cisteamina
Cisteamina [Italian]
Cystagon
Cystaran
Cystavision
Cysteamide
Cysteamin
Cysteamine
Cysteamine (USAN)
Cysteamine Bitartrate
Cysteamine Hydrochloride
Cysteamine [USAN:BAN]
Cysteamine bitartate
Cysteamine hydrochloride
Cysteaminium
Cysteinamine
D03634
DB00847
 
Decarboxycysteine
DivK1c_006750
EINECS 200-463-0
EINECS 221-235-7
Ethanethiolamine
HSDB 7353
KBio1_001694
KBio2_002235
KBio2_004803
KBio2_007371
KBioSS_002235
L 1573
L-1573
LS-65761
Lambraten
Lambratene
Lopac-M-6500
M9768_ALDRICH
M9768_SIGMA
MEA
MEA (mercaptan)
Mecramine
Mercamin
Mercamine
Mercaptamin
Mercaptamina
Mercaptamina [INN-Spanish]
Mercaptamine
Mercaptamine (INN)
Mercaptaminum
Mercaptaminum [INN-Latin]
Mercaptoethylamine
Merkamin
MolPort-001-662-635
NCGC00015691-01
NCGC00015691-04
NCGC00162236-01
NCI60_002000
NSC 647528
NSC647528
Riacon
STK315355
SpecPlus_000654
Spectrum_001755
Thioethanolamine
UNII-5UX2SD1KE2
WR 347
b-Aminoethanethiol
b-Aminoethylthiol
b-Mercaptoethylamine
beta-Aminoethanethiol
beta-Aminoethylthiol
beta-MEA
beta-Mercaptoethylamine
bmse000388
cysteamine bitartrate
nchembio.315-comp1
nchembio.316-comp1
β-MEA
β-aminoethylthiol

Interventional clinical trials:

idNameStatusNCT IDPhase
1Open-Label, Dose-Escalating Study to Assess Safety, Tolerability, Efficacy, PK and PD of RP103 in Children With Inherited Mitochondrial DiseaseEnrolling by invitationNCT02023866Phase 2, Phase 3
2A Long-Term Extension Study of RP103-MITO-001 to Assess RP103 in Children With Inherited Mitochondrial DiseaseEnrolling by invitationNCT02473445Phase 2
3MNGIE Allogeneic Hematopoietic Stem Cell Transplant Safety StudyRecruitingNCT02427178Phase 1
4The Natural History Study of Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE)RecruitingNCT01694953
5Tissue Sample Study for Mitochondrial DisordersRecruitingNCT01803906

Search NIH Clinical Center for Mitochondrial Neurogastrointestinal Encephalopathy Disease

Genetic Tests for Mitochondrial Neurogastrointestinal Encephalopathy Disease

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Genetic tests related to Mitochondrial Neurogastrointestinal Encephalopathy Disease:

id Genetic test Affiliating Genes
1 Mitochondrial Neurogastrointestinal Encephalopathy Disease22 TYMP

Anatomical Context for Mitochondrial Neurogastrointestinal Encephalopathy Disease

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MalaCards organs/tissues related to Mitochondrial Neurogastrointestinal Encephalopathy Disease:

33
Brain, Eye, Pancreas, Lung, Testes

Animal Models for Mitochondrial Neurogastrointestinal Encephalopathy Disease or affiliated genes

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Publications for Mitochondrial Neurogastrointestinal Encephalopathy Disease

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Articles related to Mitochondrial Neurogastrointestinal Encephalopathy Disease:

idTitleAuthorsYear
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

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Expression for genes affiliated with Mitochondrial Neurogastrointestinal Encephalopathy Disease

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

Pathways for genes affiliated with Mitochondrial Neurogastrointestinal Encephalopathy Disease

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GO Terms for genes affiliated with Mitochondrial Neurogastrointestinal Encephalopathy Disease

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Sources for Mitochondrial Neurogastrointestinal Encephalopathy Disease

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet