Navajo neurohepatopathy
Synonyms: Navajo neuropathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A rare, life-threatening, mitochondrial DNA depletion syndrome disease characterized by severe, progressive sensorimotor neuropathy associated with corneal ulceration, scarring or anesthesia, acral mutilation, metabolic and immunologic derangement, and hepatopathy (which can manifest with fulminant hepatic failure, a Reye-like syndrome or indolent progression to liver cirrhosis, depending on clinical form involved), present in the Navajo Native American population. Clinical presentation includes failure to thrive, distal limb weakness with reduced sensation, limb contractures with loss of function, areflexia, recurrent metabolic acidosis with intercurrent illness, immunologic anomalies manifesting with severe systemic infections, and sexual infantilism.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Navajo neurohepatopathy | Navajo neuropathy |
| fr | Neurohépatopathie type Navajo | Neuropathie type Navajo |
| de | Navajo-Neurohepatopathie | Navajo-Neuropathie |
| es | Neurohepatopatía tipo Navajo | Neuropatía tipo Navajo |
| it | Neuroepatopatia tipo Navajo | Neuropatia, tipo Navajo |
| nl | Navajo neurohepatopathie | Navajo neuropathie |
| pt | Neuro-hepatopatia de Navajo | Neuropatia de Navajo |
| pl | Neurohepatopatia Navajo | Neuropatia Navajo |
| cs | Navažská neurohepatopatie | Navažská neuropatie |
| uk | Нейрогепатопатія Навахо | Невропатія Навахо |
| zh | 纳瓦霍神经性肝病 | 纳瓦霍神经性肝病 |
| tr | Navajo nörohepatopati | Navajo nöropati |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 256810 | E | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5C53.20 | NTBT | index | validated |
| MONDO | 0009747 | E | validated | |
| MeSH | C538344 | E | validated | |
| UMLS | C1850406 | E | validated | |
| GARD | 3972 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:254871Mitochondrial DNA depletion syndrome, hepatocerebral form
rare inborn errors of metabolism; rare genetic diseases; rare hepatic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MPV17 | Disease-causing germline mutation(s) in | Assessed | HGNC:7224 | ENSG00000115204 | 137960 | 2p23.3 | mitochondrial inner membrane protein MPV17 | 22593919[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 49 cases | Worldwide | Case(s) | Validated | 23714749[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 23714749[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/255229
- This record as JSON: /data/d/255229.json