Autosomal recessive spastic paraplegia type 26
Synonyms: GM2 synthase deficiency · SPG26
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Childhood
- Status
- active
Autosomal recessive spastic paraplegia type 26 (SPG26) is a rare, complex type of hereditary spastic paraplegia characterized by the onset in childhood/adolescence (ages 2-19) of progressive spastic paraplegia associated mainly with mild to moderate cognitive impairment and developmental delay, cerebellar ataxia, dysarthria, and peripheral neuropathy. Less commonly reported manifestations include skeletal abnormalities (i.e. pes cavus, scoliosis), dyskinesia, dystonia, cataracts, cerebellar signs (i.e. saccadic dysfunction, nystagmus, dysmetria), bladder disturbances, and behavioral problems. SPG26 is caused by mutations in the <i>B4GALNT1</i> gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 1.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive spastic paraplegia type 26 | GM2 synthase deficiency · SPG26 |
| fr | Paraplégie spastique autosomique récessive type 26 | Déficit en GM2 synthase · SPG26 |
| de | Spastische Paraplegie, autosomal-rezessive, Typ 26 | GM2-Synthase-Mangel · SPG26 |
| es | Paraplejía espástica autosómica recesiva tipo 26 | Deficiencia de GM2 sintasa · SPG26 |
| it | Paraplegia spastica autosomica recessiva, tipo 26 | Deficit di GM2 sintasi · SPG26 |
| nl | Autosomaal recessieve spastische paraplegie type 26 | GM2-synthasedeficiëntie · SPG26 |
| pt | Paraplegia espástica autossómica recessiva tipo 26 | SPG26 |
| pl | Autosomalna recesywna paraplegia spastyczna typu 26 | Niedobór syntazy GM2 · SPG26 |
| cs | Autozomálně recesivní spastická paraplegie, typ 26 | Deficit GM2 syntázy · SPG26 |
| uk | Аутосомно-рецесивна спастична параплегія, тип 26 | Дефіцит GM2-синтази · SPG26 |
| zh | 常染色体隐性遗传痉挛性截瘫26型 | 神经节苷脂酶缺乏 |
| tr | Otozomal resesif spastik parapleji tip 26 | SPG26 · GM2 sentaz eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609195 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| ICD-11 | 8B44.01 | NTBT | index | validated |
| MONDO | 0012213 | E | validated | |
| MeSH | C536862 | E | validated | |
| UMLS | C1836632 | E | validated | |
| GARD | 9587 | 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 |
|---|---|---|---|---|---|---|---|---|
| B4GALNT1 | Disease-causing germline mutation(s) in | Assessed | HGNC:4117 | ENSG00000135454 | 601873 | 12q13.3 | beta-1,4-N-acetyl-galactosaminyltransferase 1 | 23746551[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 families | Worldwide | Family(ies) | Validated | 24103911[PMID]_23746551[PMID]_24283893[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24103911[PMID]_23746551[PMID]_24283893[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
22 annotations · validated 2018-04-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0003487 | Babinski sign | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0001288 | Gait disturbance | |
| HP:0030890 | Hyperintensity of cerebral white matter on MRI | |
| HP:0001347 | Hyperreflexia | |
| HP:0001249 | Intellectual disability | |
| HP:0002061 | Lower limb spasticity | |
| HP:0001324 | Muscle weakness | |
| HP:0007141 | Sensorimotor neuropathy | |
| HP:0003202 | Skeletal muscle atrophy | |
| Occasional (29-5%) | ||
| HP:0001317 | Abnormal cerebellum morphology | |
| HP:0000079 | Abnormality of the urinary system | |
| HP:0000518 | Cataract | |
| HP:0100660 | Dyskinesia | |
| HP:0001332 | Dystonia | |
| HP:0006938 | Impaired vibration sensation at ankles | |
| HP:0001761 | Pes cavus | |
| HP:0007024 | Pseudobulbar paralysis | |
| HP:0002650 | Scoliosis | |
| Very rare (<4-1%) | ||
| HP:0040171 | Decreased serum testosterone concentration | |
| HP:0001265 | Hyporeflexia | |
| HP:0008209 | Premature ovarian insufficiency | |
Annotation source: 23746551[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/101006
- This record as JSON: /data/d/101006.json