ORPHA:25980
X-linked myopathy with excessive autophagy
Synonyms: XMEA
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Adolescent, Adult, Childhood, Infancy, Neonatal
- Status
- active
A rare X-linked myopathy characterized by childhood or adult-onset of slowly progressive muscle weakness and unique histopathological findings (autophagic vacuoles with sarcolemmal features).
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked myopathy with excessive autophagy | XMEA |
| fr | Myopathie avec autophagie excessive liée à l'X | |
| de | X-chromosomale Myopathie mit exzessiver Autophagie | = en |
| es | Miopatía con autofagia excesiva ligada al cromosoma X | = en |
| it | Miopatia con autofagia eccessiva | Miopatia vacuolare |
| nl | X-gebonden myopathie met overmatige autofagie | = en |
| pt | Miopatia ligada ao X com autofagia excessiva | Miopatia vacuolar |
| pl | Miopatia sprzężona z chromosomem X ze wzmożoną autofagią | Miopatia wakuolarna · XMEA |
| cs | X-vázaná myopatie s excesivní autofagií | Vakuolární myopatie · XMEA |
| uk | Х-зчеплена міопатія з надмірною аутофагією | = en |
| zh | X连锁肌病伴过度自噬 | = en |
| tr | Aşırı otofaji ile seyreden X'e bağlı miyopati | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 310440 | E | validated | |
| ICD-10 | G71.8 | NTBT | attributed | validated |
| ICD-11 | 4A41.21 | NTBT | index | validated |
| MONDO | 0010684 | E | validated | |
| MeSH | C564093 | E | validated | |
| UMLS | C1839615 | E | validated | |
| GARD | 3892 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:206662Inclusion myopathy
rare genetic diseases; rare neurological diseases - ORPHA:206644Progressive muscular dystrophy
rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| VMA21 | Disease-causing germline mutation(s) in | Assessed | HGNC:22082 | ENSG00000160131 | 300913 | Xq28 | vacuolar ATPase assembly factor VMA21 | 23315026[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 36 families | Worldwide | Family(ies) | Validated | 25809233[PMID]_38517523[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25809233[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
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/25980
- This record as JSON: /data/d/25980.json