Hereditary sensorimotor neuropathy with hyperelastic skin
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
A rare, genetic, demyelinating hereditary motor and sensory neuropathy disorder characterized by slowly progressive, mild to moderate, distal muscle weakness and atrophy of the upper and lower limbs and variable distal sensory impairment, associated with variable hyperextensible skin and age-related macular degeneration. Hypermobility of distal joints, high palate, and minor skeletal abnormalities (e.g. pectus excavatum, dolichocephaly) may also be associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary sensorimotor neuropathy with hyperelastic skin | |
| fr | Neuropathie sensitivo-motrice héréditaire avec hyperélasticité de la peau | |
| de | Sensorimotorische Neuropathie mit hyperelastischer Haut, hereditäre Form | |
| es | Neuropatía sensitivo-motora hereditaria con piel hiperelástica | |
| it | Neuropatia sensitivo-motoria ereditaria con iperelasticità cutanea | |
| nl | Erfelijke sensomotorische neuropathie met hyperelastische huid | |
| pt | Neuropatia sensitivomotora hereditária com pele hiperelástica | |
| pl | Dziedziczna neuropatia czuciowo-ruchowa z nadmiernie elastyczną skórą | |
| cs | Hereditární senzorimotorická neuropatie s hyperelastickou kůží | |
| uk | Спадкова сенсомоторна нейропатія з гіпереластичною шкірою | |
| zh | 遗传性感觉运动神经病伴皮肤高弹性 | |
| tr | Hiperelastik deri ile seyreden kalıtsal sensörimotor nöropati |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608895 | NTBT | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| ICD-11 | 8C20.0 | NTBT | index | validated |
| MONDO | 0017237 | E | validated | |
| UMLS | C5190690 | E | validated | |
| GARD | 11010 | 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:140453Autosomal dominant hereditary demyelinating 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 |
|---|---|---|---|---|---|---|---|---|
| FBLN5 | Disease-causing germline mutation(s) in | Assessed | HGNC:3602 | ENSG00000140092 | 604580 | 14q32.12 | fibulin 5 | 21576112[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 21576112[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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/280598
- This record as JSON: /data/d/280598.json