Microcephaly-complex motor and sensory axonal neuropathy syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
Microcephaly-complex motor and sensory axonal neuropathy syndrome is an extremely rare subtype of hereditary motor and sensory neuropathy characterized by severe, rapidly-progressing, distal, symmetric polyneuropathy and microcephaly (which can be evident in utero) with intact cognition. Clinically it presents with delayed motor development, hypotonia, absent or reduced deep tendon reflexes, progressive muscle wasting and weakness and scoliosis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Microcephaly-complex motor and sensory axonal neuropathy syndrome | |
| fr | Syndrome de microcephalie-neuropathie sensitivo-motrice axonale complexe | |
| de | Mikrozephalie - komplexe motorische und sensorische axonale Neuropathie | |
| es | Síndrome de microcefalia-neuropatía axonal sensitivo-motora compleja | |
| it | Sindrome microcefalia-neuropatia assonale sensitivo-motoria complessa | |
| nl | Microcefalie - complexe motorische en sensorische axonale neuropathie-syndroom | |
| pt | Síndrome de microcefalia-neuropatia axonal sensitivo-motora complexa | |
| pl | Małogłowie i złożona neuropatia aksonalna ruchowa i czuciowa | |
| cs | Syndrom zahrnující mikrocefalii a komplexní motorickou a senzorickou axonální neuropatii | |
| uk | Синдром мікроцефалії-комплексної моторної та сенсорної аксональної нейропатії | |
| zh | 小头-复杂运动和感觉神经轴突性神经病综合征 | |
| tr | Mikrosefali-kompleks motor ve duyusal aksonal nöropati sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 620542 | E | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| MONDO | 0018507 | E | validated | |
| UMLS | C4706585 | 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 |
|---|---|---|---|---|---|---|---|---|
| VRK1 | Disease-causing germline mutation(s) in | Assessed | HGNC:12718 | ENSG00000100749 | 602168 | 14q32.2 | VRK serine/threonine kinase 1 | 24126608[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 24126608[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24126608[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/423894
- This record as JSON: /data/d/423894.json