ORPHA:370997
Muscle-eye-brain disease with bilateral multicystic leucodystrophy
Synonyms: MEB disease with bilateral multicystic leucodystrophy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare congenital muscular alpha-dystroglycanopathy with brain and eye anomalies disease characterized by a severe muscle-eye-brain disease-like phenotype associated with intellectual disability, muscular dystrophy, macrocephaly and extended bilateral multicystic white matter disease.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Muscle-eye-brain disease with bilateral multicystic leucodystrophy | MEB disease with bilateral multicystic leucodystrophy |
| fr | Syndrome muscle-oeil-cerveau avec leucodystrophie multikystique bilatérale | Syndrome MEB avec leucodystrophie multikystique bilatérale |
| de | Muskel-Auge-Gehirn-Krankheit mit bilateraler multizystischer Leukodystrophie | MEB-Krankheit mit bilateraler multizystischer Leukodystrophie · Muscle-Eye-Brain-Erkrankung mit bilateraler multizystischer Leukodystrophie |
| es | Enfermedad de músculo-ojo-cerebro con leucodistrofia multiquística bilateral | |
| it | Malattia muscolo-occhio-cervello con leucodistrofia multicistica bilaterale | Malattia MEB con leucodistrofia multicistica bilaterale |
| nl | Spier-oog-hersenziekte met bilaterale multicystische leukodystrofie | MEB-ziekte met bilaterale multicystische leukodystrofie |
| pt | Doença do músculo-olho-cérebro com leucodistrofia multiquística bilateral | |
| pl | Choroba miesień-oko-mózg z obustronną wielotorbielowatą leukodystrofią | Choroba MEB z obustronną wielotorbielowatą leukodystrofią |
| cs | Postižení svalů, očí a mozku s oboustrannou multicystickou leukodystrofií | MEB nemoc s oboustrannou multicystickou leukodystrofií |
| uk | Мязово-очно-мозкова хвороба з двобічною мультикістозною лейкодистрофією | Хвороба MEB з двобічною мультикістозною лейкодистрофією |
| zh | 肌眼脑疾病伴双侧多囊性脑白质营养不良 | MEB病伴双侧多囊性脑白质营养不良 |
| tr | Bilateral multikistik lökodistrofi ile seyreden kas-göz-beyin hastalığı | Bilateral multikistik lökodistrofi ile seyreden MEB hastalığı |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616538 | NTBT | validated | |
| ICD-10 | G71.0 | NTBT | attributed | validated |
| MONDO | 0018280 | E | validated | |
| UMLS | C5191414 | 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 (2):
- ORPHA:352687Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases - ORPHA:371040Primary qualitative or quantitative defects of alpha-dystroglycan
rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DAG1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2666 | ENSG00000173402 | 128239 | 3p21.31 | dystroglycan 1 | 24052401[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 24052401[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24052401[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
23 annotations · validated 2020-06-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0002363 | Abnormal brainstem morphology | |
| HP:0007361 | Abnormality of the pons | |
| HP:0001344 | Absent speech | |
| HP:0031882 | Agyria | |
| HP:0002350 | Cerebellar cyst | |
| HP:0001320 | Cerebellar vermis hypoplasia | |
| HP:0025336 | Delayed ability to sit | |
| HP:0031936 | Delayed ability to walk | |
| HP:0011197 | EEG with focal spike waves | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0008947 | Floppy infant | |
| HP:0030046 | Hypoglycosylation of alpha-dystroglycan | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0002415 | Leukodystrophy | |
| HP:0002126 | Polymicrogyria | |
| HP:0002421 | Poor head control | |
| HP:0011344 | Severe global developmental delay | |
| HP:0002119 | Ventriculomegaly | |
| Occasional (29-5%) | ||
| HP:0000557 | Buphthalmos | |
| HP:0000518 | Cataract | |
| HP:0011003 | High myopia | |
| HP:0000556 | Retinal dystrophy | |
Annotation source: 24052401[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/370997
- This record as JSON: /data/d/370997.json