Autosomal recessive spastic paraplegia type 57
Synonyms: SPG57 · Spastic paraplegia due to partial TFG deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
Autosomal recessive spastic paraplegia type 57 (SPG57) is an extremely rare, complex type of hereditary spastic paraplegia, characterized by onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy, and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. SPG57 is caused by mutations in the <i>TFG </i> gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive spastic paraplegia type 57 | SPG57 · Spastic paraplegia due to partial TFG deficiency |
| fr | Paraplégie spastique autosomique récessive type 57 | Paraplégie spastique par déficit partiel en TFG · SPG57 |
| de | Spastische Paraplegie, autosomal-rezessive, Typ 57 | SPG57 · Spastische Paraplegie durch partiellen TFG-Mangel |
| es | Paraplejía espástica autosómica recesiva tipo 57 | Paraplejía espástica por deficiencia parcial de TFG · SPG57 |
| it | Paraplegia spastica autosomica recessiva, tipo 57 | Paraplegia spastica da deficit parziale di TFG · SPG57 |
| nl | Autosomaal recessieve spastische paraplegie type 57 | SPG57 · Spastische paraplegie door partiële TFG-deficiëntie |
| pt | Paraplegia espástica autossómica recessiva tipo 57 | |
| pl | Autosomalna recesywna paraplegia spastyczna typu 57 | Paraplegia spastyczna spowodowana częściowym niedoborem TFG · SPG57 |
| cs | Autozomálně recesivní spastická paraplegie, typ 57 | SPG57 · Spastická paraplegie způsobená parciálním deficitem TFG |
| uk | Аутосомно-рецесивна спастична параплегія, тип 57 | Спастична параплегія внаслідок часткового дефіциту ТФГ · SPG57 |
| zh | 常染色体隐性遗传性痉挛性截瘫57型 | 部分TFG缺乏导致的痉挛性截瘫 |
| tr | Otozomal resesif spastik parapleji tip 57 | SPG57 · Kısmi TFG eksikliğine bağlı spastik parapleji |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615658 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| ICD-11 | 8B44.01 | NTBT | attributed | validated |
| MONDO | 0014295 | E | validated | |
| UMLS | C3714897 | E | validated | |
| GARD | 17712 | 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:431320Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder
rare genetic diseases; rare neurological diseases; rare ophthalmic disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TFG | Disease-causing germline mutation(s) in | Assessed | HGNC:11758 | ENSG00000114354 | 602498 | 3q12.2 | trafficking from ER to golgi regulator | 23479643[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 23479643[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_23479643[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
14 annotations · validated 2017-01-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0003134 | Abnormality of peripheral nerve conduction | |
| HP:0003551 | Difficulty climbing stairs | |
| HP:0003698 | Difficulty standing | |
| Very frequent (99-80%) | ||
| HP:0012447 | Abnormal myelination | |
| HP:0005109 | Abnormality of the Achilles tendon | |
| HP:0003487 | Babinski sign | |
| HP:0008944 | Distal lower limb amyotrophy | |
| HP:0002540 | Inability to walk | |
| HP:0007178 | Motor polyneuropathy | |
| HP:0000648 | Optic atrophy | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0007141 | Sensorimotor neuropathy | |
| HP:0001258 | Spastic paraplegia | |
| HP:0001257 | Spasticity | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 2347964[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/431329
- This record as JSON: /data/d/431329.json