ORPHA:363454
BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
Synonyms: BICD2-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures · SMALED2
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Childhood, Infancy, Neonatal
- Status
- active
This disease is described under Autosomal dominant childhood-onset proximal spinal muscular atrophy
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy | BICD2-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures · SMALED2 |
| fr | Amyotrophie spinale proximale autosomique dominante de l'enfance associée à BICD2 | Amyotrophie spinale proximale autosomique dominante de l'enfance avec prédominance des membres inférieurs associée à BICD2 · SMALED2 |
| de | BICD2-assoziierte proximale spinale Muskelatrophie mit Beginn im Kindesalter, autosomal-dominant | BICD2-assoziierte autosomal dominante spinale Muskelatrophie mit vorwiegender Beinbeteiligung Typ 2 · SMALED2 |
| es | Atrofia muscular espinal proximal asociada a BICD2 autosómica dominante de inicio en la infancia | Atrofia muscular espinal proximal asociada a BICD2 con predominio en extremidades inferiores autosómica dominante con contracturas · SMALED2 |
| it | Atrofia muscolare spinale prossimale, autosomica dominante, a esordio nell'infanzia, con contratture | Atrofia muscolare spinale prossimale, autosomica dominante, con coinvolgimento prevalente degli arti inferiori, con contratture · SMALED2 |
| nl | BICD2-gerelateerde autosomaal dominante proximale spinale musculaire atrofie met aanvang in de kindertijd | BICD2-gerelateerde autosomaal dominante proximale spinale musculaire atrofie van voornamelijk de onderste ledematen met contracturen · SMALED2 |
| pt | Atrofia muscular espinhal proximal de início na infância autossómica dominante BICD2-relacionada | Atrofia muscular espinhal proximal com contracturas de início na infância autossómica dominante |
| pl | Autosomalny dominujący zanik mięśni odcinka bliższego kręgosłupa związany z BICD2 objawiający się w dzieciństwie | Autosomalny dominujący proksymalny rdzeniowy zanik mieśni z przykurczami dominujący w kończynach dolnych · SMALED2 |
| cs | Autozomálně dominantní proximální spinální svalová atrofie s kontrakturami s nástupem v dětství | SMALED2 · Autozomálně dominantní proximální spinální svalová atrofie s kontrakturami, predominantně na dolních končetinách |
| uk | Аутосомно-домінантна BICD2-повязана проксимальна спінальна мязова атрофія, що починається в дитячому віці | BICD2-асоційована аутосомно-домінантна проксимальна спінальна мязова атрофія нижніх кінцівок з контрактурами · SMALED2 |
| zh | BICD2基因相关儿童起病常染色体显性近端脊髓性肌萎缩症 | = en |
| tr | BICD2-ilişkili otozomal dominant, çocuklukta başlayan proksimal spinal kas atrofisi | Kontraktürler ile seyreden BICD2-ilişkili alt ekstremite baskın otozomal dominant proksimal spinal kas atrofisi · SMALED2 |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615290 | BTNT | validated | |
| OMIM | 618291 | BTNT | validated | |
| ICD-10 | G12.1 | NTBT | attributed | validated |
| MONDO | 0014121 | E | validated | |
| UMLS | C4747715 | E | validated | |
| GARD | 13222 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:363447Autosomal dominant childhood-onset proximal spinal muscular atrophy
rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BICD2 | Disease-causing germline mutation(s) in | Assessed | HGNC:17208 | ENSG00000185963 | 609797 | 9q22.31 | BICD cargo adaptor 2 | 23664119[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 60 cases | Worldwide | Case(s) | Validated | 26594138[PMID]_26998597[PMID]_27784775[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26594138[PMID]_27784775[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.
6
HPO phenotypes
17 annotations · validated 2018-06-28| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0005853 | Congenital foot contraction deformities | |
| HP:0008944 | Distal lower limb amyotrophy | |
| HP:0002460 | Distal muscle weakness | |
| HP:0001288 | Gait disturbance | |
| HP:0003391 | Gowers sign | |
| HP:0003701 | Proximal muscle weakness | |
| HP:0002515 | Waddling gait | |
| Occasional (29-5%) | ||
| HP:0005109 | Abnormality of the Achilles tendon | |
| HP:0001558 | Decreased fetal movement | |
| HP:0001371 | Flexion contracture | |
| HP:0001385 | Hip dysplasia | |
| HP:0003307 | Hyperlordosis | |
| HP:0001347 | Hyperreflexia | |
| HP:0001265 | Hyporeflexia | |
| HP:0001270 | Motor delay | |
| Very rare (<4-1%) | ||
| HP:0030237 | Hand muscle weakness | |
| HP:0003547 | Shoulder girdle muscle weakness | |
Annotation source: 22628388[PMID]_23664120[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/363454
- This record as JSON: /data/d/363454.json