Autosomal recessive spastic paraplegia type 75
Synonyms: SPG75
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare, complex hereditary spastic paraplegia characterized by an early onset and slow progression of spastic paraplegia associated with cerebellar signs, nystagmus, peripheral neuropathy, extensor plantar responses and borderline to mild intellectual disability. Additional features of hypo- or areflexia, mild upper limb involvement and significant visual impairment (optic atrophy, vision loss, astigmatism) have been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive spastic paraplegia type 75 | SPG75 |
| fr | Paraplégie spastique autosomique récessive type 75 | = en |
| de | Spastische Paraplegie, autosomal-rezessive, Typ 75 | = en |
| es | Paraplejía espástica autosómica recesiva tipo 75 | = en |
| it | Paraplegia spastica autosomica recessiva tipo 75 | |
| nl | Autosomaal recessieve spastische paraplegie type 75 | = en |
| pt | Paraplegia espástica autossómica recessiva tipo 75 | |
| pl | Autosomalna recesywna paraplegia spastyczna typu 75 | = en |
| cs | Autozomálně recesivní spastická paraplegie, typ 75 | = en |
| uk | Аутосомно-рецесивна спастична параплегія, тип 75 | = en |
| zh | 常染色体显性痉挛性截瘫75型 | = en |
| tr | Otozomal resesif spastik parapleji tip 75 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616680 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| MONDO | 0014729 | E | validated | |
| UMLS | C4225250 | 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:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MAG | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:6783 | ENSG00000105695 | 159460 | 19q13.1 | myelin associated glycoprotein | 26179919[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 24482476[PMID]_26179919[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24482476[PMID]_26179919[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
16 annotations · validated 2018-05-25| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0003487 | Babinski sign | |
| HP:0008944 | Distal lower limb amyotrophy | |
| HP:0001310 | Dysmetria | |
| HP:0001263 | Global developmental delay | |
| HP:0002495 | Impaired vibratory sensation | |
| HP:0001249 | Intellectual disability | |
| HP:0001258 | Spastic paraplegia | |
| HP:0001257 | Spasticity | |
| Frequent (79-30%) | ||
| HP:0000483 | Astigmatism | |
| HP:0001290 | Generalized hypotonia | |
| HP:0000540 | Hypermetropia | |
| HP:0001265 | Hyporeflexia | |
| HP:0000639 | Nystagmus | |
| HP:0012511 | Temporal optic disc pallor | |
| Occasional (29-5%) | ||
| HP:0030187 | Titubation | |
Run the differential on the 9 obligate / very frequent terms
Annotation source: 26179919[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/459056
- This record as JSON: /data/d/459056.json