Autosomal spastic paraplegia type 72
Synonyms: SPG72
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare autosomal dominant pure hereditary spastic paraplegia characterized by early childhood onset of slowly progressive crural spastic paraparesis presenting with spastic gait, mild stiffness at rest, hyperreflexia (in lower limbs), extensor plantar responses and, in some, mild postural tremor, pes cavus, sphincter disturbances and sensory loss at ankles.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal spastic paraplegia type 72 | SPG72 |
| fr | Paraplégie spastique autosomique type 72 | = en |
| de | Spastische Paraplegie, autosomal-rezessive, Typ 72 | = en |
| es | Paraplejía espástica autosómica tipo 72 | = en |
| it | Paraplegia spastica autosomica recessiva tipo 72 | = en |
| nl | Autosomale spastische paraplegie type 72 | = en |
| pt | Paraplegia espástica autossómica tipo 72 | = en |
| pl | Autosomalna paraplegia spastyczna typu 72 | = en |
| cs | Autozomální spastická paraplegie, typ 72 | = en |
| uk | Аутосомна спастична параплегія, тип 72 | = en |
| zh | 常染色体痉挛性截瘫72型 | = en |
| tr | Otozomal spastik parapleji tip 72 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615625 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| ICD-11 | 8B44.00 | NTBT | attributed | validated |
| ICD-11 | 8B44.01 | NTBT | attributed | validated |
| MONDO | 0014282 | E | validated | |
| UMLS | C3810160 | 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:100980Autosomal dominant pure spastic paraplegia
rare genetic diseases; rare neurological diseases - ORPHA:100982Autosomal recessive pure spastic paraplegia
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| REEP2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:17975 | ENSG00000132563 | 609347 | 5q31.2 | receptor accessory protein 2 | 24388663[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 14 cases | Worldwide | Case(s) | Validated | 24388663[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24388663[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
9 annotations · validated 2018-05-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002063 | Rigidity | |
| HP:0002064 | Spastic gait | |
| Frequent (79-30%) | ||
| HP:0001761 | Pes cavus | |
| HP:0002839 | Urinary bladder sphincter dysfunction | |
| Occasional (29-5%) | ||
| HP:0011446 | Abnormality of higher mental function | |
| HP:0006938 | Impaired vibration sensation at ankles | |
| HP:0002354 | Memory impairment | |
| HP:0012531 | Pain | |
| HP:0002174 | Postural tremor | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 24388663[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/401849
- This record as JSON: /data/d/401849.json