Mutilating hereditary sensory neuropathy with spastic paraplegia
Synonyms: Mutilating HSAN with spastic paraplegia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A rare genetic neurological disorder characterized by infantile to childhood onset of progressive sensory neuropathy in association with spastic paraplegia and mutilating acropathy. Patients present lower limb spasticity and progressive severe sensory loss leading to chronic ulcerations in both upper and lower limbs. Electrophysiological studies are consistent with axonal sensory neuropathy, and nerve biopsy shows axonopathy with loss of myelinated nerve fibers of all diameters as well as of unmyelinated axons.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mutilating hereditary sensory neuropathy with spastic paraplegia | Mutilating HSAN with spastic paraplegia |
| fr | Neuropathie héréditaire sensitive mutilante avec paraplégie spastique | NHSA mutilante avec paraplégie spastique |
| de | Mutilierende hereditäre sensorische Neuropathie mit spastischer Paraplegie | HSAN mit spastischer Paraplegie · Mutilierende HSAN mit spastischer Paraplegie |
| es | Neuropatía sensitiva hereditaria mutilante con paraplejía espástica | NSAH mutilante con paraplejía espástica |
| it | Neuropatia autonomica e sensoriale ereditaria - paraplegia spastica | HSAN con paraplegia spastica |
| nl | Mutilerende erfelijke sensorische neuropathie met spastische paraplegie | Mutilerende HSAN met spastische paraplegie |
| pt | Neuropatia sensorial hereditária mutilante com paraplegia espástica | HSAN mutilante com paraplegia espástica |
| pl | Dziedziczna neuropatia czuciowa i autonomiczna ze spastycznym porażeniem poprzecznym | HSAN ze spastycznym porażeniem poprzecznym |
| cs | Hereditární senzorická a autonomní neuropatie se spastickou paraplegií | HSAN se spastickou paraplegií |
| uk | Інівалідизуюча спадкова сенсорна нейропатія зі спастичною параплегією | Каліцтво HSAN зі спастичною параплегією |
| zh | 残废性遗传性感觉神经病变伴痉挛性截瘫 | 残毁性HSAN伴痉挛性截瘫 |
| tr | Spastik parapleji ile kalıtsal, kopmaya yol açan duyusal nöropati | Spastik parapleji ile seyreden mutilating HSAN |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 256840 | E | validated | |
| ICD-10 | G60.8 | NTBT | attributed | validated |
| MONDO | 0009748 | E | validated | |
| MONDO | 9748 | E | validated | |
| UMLS | C5679610 | 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:100981Autosomal recessive complex spastic paraplegia
rare genetic diseases; rare neurological diseases - ORPHA:140477Autosomal recessive hereditary sensory and autonomic neuropathy
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CCT5 | Disease-causing germline mutation(s) in | Assessed | HGNC:1618 | ENSG00000150753 | 610150 | 5p15.2 | chaperonin containing TCP1 subunit 5 | 16399879[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 14 cases | Worldwide | Case(s) | Validated | 218673[PMID]_7922454[PMID]_16333315[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_16333315[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
18 annotations · validated 2017-12-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012332 | Abnormal autonomic nervous system physiology | |
| HP:0003409 | Distal sensory impairment of all modalities | |
| HP:0001288 | Gait disturbance | |
| HP:0001347 | Hyperreflexia | |
| HP:0007328 | Impaired pain sensation | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0200042 | Skin ulcer | |
| HP:0001258 | Spastic paraplegia | |
| HP:0001257 | Spasticity | |
| Frequent (79-30%) | ||
| HP:0002143 | Abnormality of the spinal cord | |
| HP:0003487 | Babinski sign | |
| HP:0002169 | Clonus | |
| HP:0003431 | Decreased motor nerve conduction velocity | |
| HP:0003693 | Distal amyotrophy | |
| HP:0007020 | Progressive spastic paraplegia | |
| HP:0003390 | Sensory axonal neuropathy | |
| Occasional (29-5%) | ||
| HP:0006121 | Acral ulceration | |
| HP:0001886 | Foot osteomyelitis | |
Run the differential on the 9 obligate / very frequent terms
Annotation source: 16333315[PMID]_218673[PMID]_7922454[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/139578
- This record as JSON: /data/d/139578.json