ORPHA:456328
X-linked myotubular myopathy-abnormal genitalia syndrome
Synonyms: Xq28 contiguous gene deletion syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Antenatal, Neonatal
- Status
- active
X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked myotubular myopathy-abnormal genitalia syndrome | Xq28 contiguous gene deletion syndrome |
| fr | Syndrome de myopathie centronucléaire liée à l'X-anomalies génitales | Syndrome de délétion de gènes contigus Xq28 |
| de | X-chromosomale myotubuläre Myopathie-Genitalanomalien-Syndrom | Xq28-Contiguous gene deletion-Syndrom |
| es | Síndrome de miopatía miotubular-anomalías genitales ligado al cromosoma X | Miopatía miotubular y genitales ambiguos · Síndrome de deleción de genes contiguos Xq28 |
| it | Sindrome miopatia miotubulare-anomalie genitali legata all'X | Sindrome da delezione di geni contigui Xq28 |
| nl | X-gebonden myotubulaire myopathie - abnormale genitaliën-syndroom | Xq28-'contiguous gene'-deletiesyndroom |
| pt | Síndrome de miopatia microtubular-anomalias genitais ligada ao X | Síndrome de deleção de genes contíguos Xq28 |
| pl | Zespół miopatii miotubularnej sprzężonej z chromosomem X i nieprawidłowych narządów płciowych | Zespół delecji przyległego genu Xq28 |
| cs | Syndrom zahrnující X-vázanou myotubulární myopatii a abnormality genitálu | Mikrodeleční syndrom Xq28 |
| uk | Х-зчеплений синдром міотубулярної міопатії-аномальних геніталій | Синдром делеції суміжного гена Xq28 |
| zh | X连锁-肌管性肌病-生殖器异常综合征 | Xq28连续基因缺失综合征 |
| tr | X'e bağlı miyotübüler miyopati-anormal genital sendrom | Xq28 bitişik gen delesyon sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300219 | E | validated | |
| ICD-10 | Q99.8 | NTBT | attributed | validated |
| MONDO | 0010271 | E | validated | |
| MeSH | C564561 | E | validated | |
| UMLS | C1846169 | 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 (5):
- ORPHA:595Centronuclear myopathy
rare genetic diseases; rare neurological diseases - ORPHA:263756Partial deletion of the long arm of chromosome X syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:207110Qualitative or quantitative defects of myotubularin
rare genetic diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:98087Syndrome with 46,XY difference of sex development
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases; rare endocrine diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MAMLD1 | Role in the phenotype of | Assessed | HGNC:2568 | ENSG00000013619 | 300120 | Xq28 | mastermind like domain containing 1 | 9169146[PMID]_26580071[PMID] |
| MTM1 | Role in the phenotype of | Assessed | HGNC:7448 | ENSG00000171100 | 300415 | Xq28 | myotubularin 1 | 8789451[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 10449925[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_10449925[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
15 annotations · validated 2019-09-10| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001290 | Generalized hypotonia | |
| Frequent (79-30%) | ||
| HP:0000048 | Bifid scrotum | |
| HP:0040314 | Blind vagina | |
| HP:0000028 | Cryptorchidism | |
| HP:0000807 | Glandular hypospadias | |
| HP:0000054 | Micropenis | |
| HP:0003244 | Penile hypospadias | |
| HP:0000808 | Penoscrotal hypospadias | |
| HP:0001561 | Polyhydramnios | |
| HP:0002093 | Respiratory insufficiency | |
| Occasional (29-5%) | ||
| HP:0011968 | Feeding difficulties | |
| HP:0000218 | High palate | |
| HP:0001382 | Joint hypermobility | |
| HP:0000278 | Retrognathia | |
| HP:0000883 | Thin ribs | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 10449925[PMID]_8789451[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/456328
- This record as JSON: /data/d/456328.json