ORPHA:139557
X-linked distal spinal muscular atrophy type 3
Synonyms: ATP7A-related distal motor neuropathy · DSMAX · SMAX3 · X-linked dHMN3 · X-linked dSMA3 · X-linked distal hereditary motor neuropathy type 3
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- Status
- active
X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked distal spinal muscular atrophy type 3 | ATP7A-related distal motor neuropathy · DSMAX · SMAX3 · X-linked dHMN3 · X-linked dSMA3 · X-linked distal hereditary motor neuropathy type 3 |
| fr | Atrophie musculaire spinale distale liée à l'X type 3 | Atrophie musculaire spinale distale liée à ATP7A · DSMAX · Neuropathie motrice distale héréditaire liée à l'X de type 3 · SMAX3 · dHMN3 liée à l'X · dSMA3 liée à l'X |
| de | Spinale Muskelatrophie, distale, X-chromosomale, Typ 3 | ATP7A-assoziierte distale motorische Neuropathie · DSMAX · Neuropathie, distale hereditäre motorische, X-chromosomale, Typ 3 · SMAX3 · dHMN, X-chromosomale, Typ 3 · dSMA, X-chromosomale, Typ 3 |
| es | Atrofia muscular espinal distal ligada al cromosoma X tipo 3 | DSMAX · Neuropatía motora distal asociada a ATP7A · Neuropatía motora distal hereditaria ligada al cromosoma X tipo 3 · SMAX3 · dHMN3 ligada al cromosoma X · dSMA3 ligada al cromosoma X |
| it | Atrofia muscolare spinale distale legata all'X tipo 3 | Atrofia muscolare spinale distale SMAX3-correlata · Neuropatia motoria ereditaria distale legata all'X, tipo 3 · dHMN legata all'X, tipo 3 · dSMA legata all'X, tipo 3 |
| nl | X-gebonden distale spinale spieratrofie type 3 | ATP7A-gerelateerde distale motorische neuropathie · DSMAX · SMAX3 · X-gebonden dHMN3 · X-gebonden dSMA3 · X-gebonden distale hereditaire motorische neuropathie type 3 |
| pt | Atrofia muscular espinhal distal ligada ao X | |
| pl | Dystalny rdzeniowy zanik mięśni typu 3 sprzężony z chromosomem X | DSMAX · SMAX3 · dHMN typu 3 sprzężony z chromosomem X · dSMA typu 3 sprzężony z chromosomem X · Dystalna neuropatia ruchowa zależna od ATP7A · Dystalna dziedziczna neuropatia ruchowa typu 3 sprzężona z chromosomem X |
| cs | X-vázaná distální spinální svalová atrofie, typ 3 | SMAX3-vázaná distální spinální svalová atrofie · X-vázaná dHMN, typ 3 · X-vázaná dSMA, typ 3 · X-vázaná distální hereditární motorická neuropatie, typ 3 |
| uk | Х-зчеплена дистальна спінальна мязова атрофія, тип 3 | Дистальна моторна нейропатія, повязана з ATP7A · DSMAX · SMAX3 · Х-звязаний dHMN3 · Х-зчеплена дистальна спадкова моторна нейропатія типу 3 · Х-звязаний dSMA3 |
| zh | X连锁遗传远端脊髓性肌萎缩症3型 | ATP7A基因相关远端运动神经病 |
| tr | X'e bağlı distal spinal müsküler atrofi tip 3 | DSMAX · SMAX3 · X'e bağlı dHMN3 · X bağlantılı dSMA3 · ATP7A-ilişkili distal motor nöropati · X'e bağlı distal kalıtsal motor nöropati tip 3 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300489 | E | validated | |
| ICD-10 | G12.1 | NTBT | attributed | validated |
| ICD-11 | 8B61.4 | NTBT | attributed | validated |
| MONDO | 10338 | E | validated | |
| MeSH | C564506 | E | validated | |
| UMLS | C1845359 | 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 (3):
- ORPHA:309839Disorder of copper metabolism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:404538X-linked distal hereditary motor neuropathy
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ATP7A | Disease-causing germline mutation(s) in | Assessed | HGNC:869 | ENSG00000165240 | 300011 | Xq21.1 | ATPase copper transporting alpha | 20170900[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 families | Worldwide | Family(ies) | Validated | 14985388[PMID]_19153371[PMID]_20170900[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_14985388[PMID]_19153371[PMID]_20170900[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.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/139557
- This record as JSON: /data/d/139557.json