Autosomal recessive spastic paraplegia type 74
Synonyms: SPG74
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Autosomal recessive spastic paraplegia type 74 is a rare, genetic, spastic paraplegia-optic atrophy-neuropathy-related (SPOAN-like) disorder characterized by childhood onset of mild to moderate spastic paraparesis which manifests with gait impairment that very slowly progresses into late adulthood, hyperactive patellar reflex and bilateral extensor plantar response, in association with optic atrophy and typical symptoms of peripheral neuropathy, including reduced or absent ankle reflexes, lower limb atrophy and distal sensory impairment. Reduced visual acuity and pes cavus are frequently reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive spastic paraplegia type 74 | SPG74 |
| fr | Paraplégie spastique autosomique récessive type 74 | = en |
| de | Spastische Paraplegie, autosomal-rezessive, Typ 74 | = en |
| es | Paraplejía espástica autosómica recesiva tipo 74 | = en |
| it | Paraplegia spastica autosomica recessiva tipo 74 | |
| nl | Autosomaal recessieve spastische paraplegie type 74 | = en |
| pt | Paraplegia espástica autossómica recessiva tipo 74 | |
| pl | Autosomalna recesywna paraplegia spastyczna typu 74 | = en |
| cs | Autozomálně recesivní spastická paraplegie, typ 74 | = en |
| uk | Аутосомно-рецесивна спастична параплегія, тип 74 | = en |
| zh | 常染色体显性痉挛性截瘫74型 | = en |
| tr | Otozomal resesif spastik parapleji tip 74 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616451 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| MONDO | 0014644 | E | validated | |
| UMLS | C5568837 | 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 |
|---|---|---|---|---|---|---|---|---|
| IBA57 | Disease-causing germline mutation(s) in | Assessed | HGNC:27302 | ENSG00000181873 | 615316 | 1q42.13 | iron-sulfur cluster assembly factor IBA57 | 25609768[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 11 cases | Worldwide | Case(s) | Validated | 25609768[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25609768[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
19 annotations · validated 2018-10-29| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003477 | Peripheral axonal neuropathy | |
| HP:0007020 | Progressive spastic paraplegia | |
| Frequent (79-30%) | ||
| HP:0009072 | Decreased Achilles reflex | |
| HP:0011923 | Decreased activity of mitochondrial complex I | |
| HP:0008314 | Decreased activity of mitochondrial complex II | |
| HP:0003693 | Distal amyotrophy | |
| HP:0009053 | Distal lower limb muscle weakness | |
| HP:0007067 | Distal peripheral sensory neuropathy | |
| HP:0003445 | EMG: neuropathic changes | |
| HP:0001288 | Gait disturbance | |
| HP:0007083 | Hyperactive patellar reflex | |
| HP:0001761 | Pes cavus | |
| HP:0001123 | Visual field defect | |
| HP:0000505 | Visual impairment | |
| Occasional (29-5%) | ||
| HP:0003487 | Babinski sign | |
| HP:0000648 | Optic atrophy | |
| Very rare (<4-1%) | ||
| HP:0001272 | Cerebellar atrophy | |
| HP:0012762 | Cerebral white matter atrophy | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 25609768[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/468661
- This record as JSON: /data/d/468661.json