ORPHA:298
Mitochondrial neurogastrointestinal encephalomyopathy
Synonyms: MNGIE
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome is characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mitochondrial neurogastrointestinal encephalomyopathy | MNGIE |
| fr | Encéphalopathie myo-neuro-gastrointestinale | Encéphalomyopathie mitochondriale neuro-gastro-intestinale · MNGIE |
| de | Enzephalomyopathie, mitochondriale neurogastrointestinale | MNGIE-Syndrom |
| es | Encefalomiopatía neurogastrointestinal mitocondrial | = en |
| it | Encefalomiopatia neurogastrointestinale mitocondriale | = en |
| nl | Mitochondriale neurogastro-intestinale encefalomyopathie | = en |
| pt | Encefalomiopatia neurogastrointestinal mitocondrial | = en |
| pl | Zespół mitochondrialnej encefalomiopatii dotyczącej układu nerwowego, żołądka i jelit | = en |
| cs | Mitochondriální neurogastrointestinální encefalomyopatie | = en |
| uk | Мітохондріальна нейрогастроінтестинальна енцефаломіопатія | = en |
| zh | 线粒体神经胃肠型脑肌病 | = en |
| tr | Mitokondriyal nörogastrointestinal ensefalomiyopati | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 603041 | NTBT | validated | |
| OMIM | 612075 | NTBT | validated | |
| OMIM | 613662 | NTBT | validated | |
| OMIM | 619780 | BTNT | validated | |
| ICD-10 | G71.3 | NTBT | attributed | validated |
| ICD-11 | 5C53.20 | NTBT | index | validated |
| MONDO | 0017575 | E | validated | |
| UMLS | C0872218 | E | validated | |
| GARD | 9920 | E | validated | |
| MedDRA | 10065271 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (12):
- ORPHA:79193Disorder of pyrimidine metabolism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:104013Metabolic disease with intestinal involvement
rare gastroenterological diseases; rare genetic diseases - ORPHA:352456Mitochondrial DNA maintenance syndrome
rare inborn errors of metabolism; rare genetic diseases - ORPHA:225700Mitochondrial disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:225703Mitochondrial disease with peripheral neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:206966Mitochondrial myopathy
rare genetic diseases; rare neurological diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:98578Rare disorder with ptosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders - ORPHA:522522Rare genetic neuromuscular disorder with ocular motility/alignment anomaly
rare genetic diseases - ORPHA:717874Rare inborn error of metabolism with inflammatory bowel disease
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:519347Rare neuromuscular disorder with ocular motility/alignment anomaly
rare ophthalmic disorders - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
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Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TYMP | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:3148 | ENSG00000025708 | 131222 | 22q13.33 | thymidine phosphorylase | 21933806[PMID] |
| LIG3 | Disease-causing germline mutation(s) in | Assessed | HGNC:6600 | ENSG00000005156 | 600940 | 17q12 | DNA ligase 3 | 33855352[PMID] |
| POLG | Disease-causing germline mutation(s) in | Assessed | HGNC:9179 | ENSG00000140521 | 174763 | 15q26.1 | DNA polymerase gamma, catalytic subunit | 12825077[PMID] |
| RRM2B | Disease-causing germline mutation(s) in | Assessed | HGNC:17296 | ENSG00000048392 | 604712 | 8q22.3 | ribonucleotide reductase regulatory TP53 inducible subunit M2B | 19667227[PMID] |
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Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.1 / 100 000 | Europe | Value and class | Validated | European Medicines Agency[OTHER] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.3 / 100 000 | Israel | Value and class | Validated | 33239050[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.5 / 100 000 | Specific population | Value and class | Validated | 33239050[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
48 annotations · validated 2017-12-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003270 | Abdominal distention | |
| HP:0002027 | Abdominal pain | |
| HP:0025149 | Atrophic muscularis propria | |
| HP:0004326 | Cachexia | |
| HP:0002015 | Dysphagia | |
| HP:0000544 | External ophthalmoplegia | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0002579 | Gastrointestinal dysmotility | |
| HP:0002352 | Leukoencephalopathy | |
| HP:0002018 | Nausea | |
| HP:0004396 | Poor appetite | |
| HP:0007141 | Sensorimotor neuropathy | |
| HP:0012850 | Small intestinal dysmotility | |
| HP:0002013 | Vomiting | |
| Frequent (79-30%) | ||
| HP:0002500 | Abnormal cerebral white matter morphology | |
| HP:0008049 | Abnormality of the extraocular muscles | |
| HP:0011024 | Abnormality of the gastrointestinal tract | |
| HP:0001155 | Abnormality of the hand | |
| HP:0012103 | Abnormality of the mitochondrion | |
| HP:0003431 | Decreased motor nerve conduction velocity | |
| HP:0003387 | Decreased number of large peripheral myelinated nerve fibers | |
| HP:0003448 | Decreased sensory nerve conduction velocity | |
| HP:0007108 | Demyelinating peripheral neuropathy | |
| HP:0002014 | Diarrhea | |
| HP:0002460 | Distal muscle weakness | |
| HP:0003388 | Easy fatigability | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0009027 | Foot dorsiflexor weakness | |
| HP:0003348 | Hyperalaninemia | |
| HP:0002922 | Increased CSF protein concentration | |
| HP:0003128 | Lactic acidosis | |
| HP:0000597 | Ophthalmoparesis | |
| HP:0003401 | Paresthesia | |
| HP:0003477 | Peripheral axonal neuropathy | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0000508 | Ptosis | |
| HP:0003200 | Ragged-red muscle fibers | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0001824 | Weight loss | |
| Occasional (29-5%) | ||
| HP:0025461 | Abnormal cell morphology | |
| HP:0001903 | Anemia | |
| HP:0001394 | Cirrhosis | |
| HP:0003199 | Decreased muscle mass | |
| HP:0000815 | Hypergonadotropic hypogonadism | |
| HP:0000044 | Hypogonadotropic hypogonadism | |
| HP:0001249 | Intellectual disability | |
| HP:0001403 | Macrovesicular hepatic steatosis | |
| Very rare (<4-1%) | ||
| HP:0000726 | Dementia | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 20301358[PMID]_17437622[PMID]_22908072[PMID]_22908072[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/298
- This record as JSON: /data/d/298.json