Severe early-onset axonal neuropathy due to MFN2 deficiency
Synonyms: AR-CMT2, Ouvrier type · Autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type · SEOAN due to MFN2 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Severe early-onset axonal neuropathy due to MFN2 deficiency is a rare axonal hereditary motor and sensory neuropathy characterized by early onset (<10 years) progressive distal muscle weakness and wasting of the lower limbs and later, to a lesser extent the upper limbs resulting in foot and wrist drop, areflexia, skeletal deformities (kyphoscoliosis, pes cavus with flattening, joint contractures), mild sensory impairment with vibration sense reduced to a greater extent than pain, optic atrophy and hearing loss. Wheelchair dependence by adolescence is usual and respiratory impairment with diaphragmatic paralysis may develop.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Severe early-onset axonal neuropathy due to MFN2 deficiency | AR-CMT2, Ouvrier type · Autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type · SEOAN due to MFN2 deficiency |
| fr | Neuropathie axonale sévère précoce par déficit en MFN2 | AR-CMT2 type Ouvrier · Maladie de Charcot-Marie-Tooth autosomique récessive type Ouvrier · SEOAN par déficit en MFN2 |
| de | Schwere früh-beginnende axonale Neuropathie durch MFN2-Mangel | AR-CMT2, Typ Ouvrier · Charcot-Marie-Tooth-Krankheit, autosomal-rezessive, Typ Ouvrier · SEOAN durch MFN2-Mangel |
| es | Neuropatía axonal grave de inicio precoz por deficiencia de MFN2 | CMT2-AR tipo Ouvrier · Enfermedad de Charcot-Marie-Tooth autosómica recesiva tipo Ouvrier · SEOAN por deficiencia de MFN2 |
| it | Neuropatia assonale grave a esordio precoce da deficit di MFN2 | AR-CMT2, tipo Ouvrier · Malattia di Charcot-Marie-Tooth autosomica recessiva , tipo Ouvrier · SEOAN da deficit di MFN2 |
| nl | Ernstige axonale neuropathie met vroege aanvang door MFN2-deficiëntie | AR-CMT2, Ouvrier-type · Autosomaal recessieve ziekte van Charcot-Marie-Tooth, Ouvrier-type · SEOAN door MFN2-deficiëntie |
| pt | Neuropatia axonal grave de início precoce por deficiência de MFN2 | Doença de Charcot-Marie-Tooth autossómica recessiva, tipo Ouvrier |
| pl | Ciężka wczesna neuropatia aksonalna spowodowana niedoborem MFN2 | AR-CMT2, typ Ouvriera · Autosomalna recesywna choroba Charcota, Mariego i Tootha, typ Ouvriera · SEOAN z powodu niedoboru MFN2 |
| cs | Těžká axonální neuropatie s časným nástupem na podkladě deficitu MFN2 | AR-CMT2, Ouvrierův typ · Autozomálně recesivní Charcotova-Marieova-Toothova nemoc, Ouvrierův typ · SEOAN na podkladě deficitu MFN2 · Autozomálně recesivní Charcot-Marie-Toothova nemoc, Ouvrierův typ |
| uk | Тяжка рання аксональна нейропатія, спричинена дефіцитом MFN2 | AR-CMT2, тип Ouvrier · Аутосомно-рецесивна хвороба Шарко-Марі-Тута, тип Ouvrier · SEOAN через відсутність режиму найбільшого сприяння (ННС2) |
| zh | MFN2缺乏所致严重早发轴突性神经病 | 常染色体隐性遗传性Charcot-Marie-Tooth病，Ouvrier型 |
| tr | MFN2 eksikliğine bağlı ağır erken başlangıçlı aksonal nöropati | AR-CMT2, Ouvrier tipi · MFN2 eksikliğine bağlı SEOAN · Otozomal Çekinik Charcot-Marie-Tooth hastalığı, Ouvrier tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G60.0 | NTBT | attributed | validated |
| MONDO | 0019549 | E | validated | |
| UMLS | C4707897 | 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 (1):
- ORPHA:91024Autosomal recessive axonal hereditary motor and sensory neuropathy
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MFN2 | Disease-causing germline mutation(s) in | Assessed | HGNC:16877 | ENSG00000116688 | 608507 | 1p36.22 | mitofusin 2 |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/90118
- This record as JSON: /data/d/90118.json