ORPHA:588
Muscle-eye-brain disease
Synonyms: MEB syndrome · Muscle-eye-brain syndrome · Santavuori congenital muscular dystrophy
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare, congenital muscular dystrophy due to dystroglycanopathy characterized by early onset muscular dystrophy, severe muscular hypotonia, severe intellectual disability and typical brain and eye malformations including pachygyria, polymicrogyria, agyria, brainstem and cerebellar structural anomalies, severe myopia, glaucoma, optic nerve and retinal hypoplasia. A broad clinical spectrum is observed with variable involvement of each organ system.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Muscle-eye-brain disease | MEB syndrome · Muscle-eye-brain syndrome · Santavuori congenital muscular dystrophy |
| fr | Syndrome muscle-oeil-cerveau | Dystrophie musculaire congénitale de Santavuori · MEB disease · Syndrome MEB · Syndrome muscle-eye-brain |
| de | Muskel-Augen-Gehirn-Krankheit | Kongenitale Muskeldystrophie Typ Santavuori · MEB-Krankheit · MEBD · Muscle-Eye-Brain-Erkrankung · Santavuori-Krankheit |
| es | Enfermedad de músculo-ojo-cerebro | Distrofia muscular congénita de Santavuori · Síndrome MEB · Síndrome de músculo-ojo-cerebro |
| it | Malattia muscolo-occhio-cervello | Distrofia muscolare congenita di Santavuori · Sindrome MEB · Sindrome muscolo-occhio-cervello |
| nl | Spier-oog-hersenziekte | MEB-syndroom · Muscle-eye-brain disease · Muscle-eye-brain syndroom · Santavuori congenitale musculaire dystrofie · Spier-oog-hersenen-syndroom · Spier-oog-hersensyndroom |
| pt | Doença músculo-olho-cérebro | Doença de Santavuori · Síndrome MEB |
| pl | Choroba mięsień-oko-mózg | Wrodzona dystrofia mięśniowa Santavuori · Zespół MEB · Zespół mięsień-oko-mózg |
| cs | Choroba s postižením svalů, očí a mozku | MEB syndrom · Santavuoriho vrozená svalová dystrofie · Syndrom s postižením svalů, očí a mozku |
| uk | Хвороба мязів-очей-мозку | MEB-синдром · Мязово-очно-мозковий синдром · Вроджена мязова дистрофія Сантавуорі |
| zh | 肌-眼-脑病 | Santavuori型先天性肌营养不良症 |
| tr | Kas-göz-beyin hastalığı | MEB sendromu · Kas-göz-beyin sendromu · Santavuori Doğumsal kas distrofisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 236670 | NTBT | validated | |
| OMIM | 253280 | BTNT | validated | |
| OMIM | 253800 | BTNT | validated | |
| OMIM | 613150 | BTNT | validated | |
| OMIM | 613153 | BTNT | validated | |
| OMIM | 613154 | BTNT | validated | |
| OMIM | 615181 | BTNT | validated | |
| OMIM | 615350 | BTNT | validated | |
| ICD-10 | G71.2 | NTBT | attributed | validated |
| ICD-11 | 8C70.6 | NTBT | index | validated |
| MONDO | 0018939 | E | validated | |
| UMLS | C0457133 | E | validated | |
| GARD | 156 | E | validated | |
| MedDRA | 10089751 | 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 (12):
- ORPHA:371235Congenital disorder of glycosylation with developmental anomaly
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:371071Congenital disorder of glycosylation with epilepsy as a major feature
rare genetic diseases; rare neurological diseases - ORPHA:352687Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases - ORPHA:309469Disorder of O-mannosylglycan synthesis
rare inborn errors of metabolism; rare genetic diseases - ORPHA:98644Metabolic disease with cataract
rare genetic diseases; rare ophthalmic disorders - ORPHA:207119Qualitative or quantitative defects of FKRP
rare genetic diseases - ORPHA:207122Qualitative or quantitative defects of fukutin
rare genetic diseases - ORPHA:209024Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase
rare genetic diseases - ORPHA:209033Qualitative or quantitative defects of protein O-mannosyltransferase 2
rare genetic diseases - ORPHA:98638Rare disease with glaucoma as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:98683Syndromic disorder with strabismus
rare ophthalmic disorders - ORPHA:522520Syndromic genetic disorder with strabismus
rare genetic diseases
No children.
4
Genes
9 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LARGE1 | Candidate gene tested in | Not yet assessed | HGNC:6511 | ENSG00000133424 | 603590 | 22q12.3 | LARGE xylosyl- and glucuronyltransferase 1 | 19067344[PMID] |
| B3GALNT2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:28596 | ENSG00000162885 | 610194 | 1q42.3 | beta-1,3-N-acetylgalactosaminyltransferase 2 | 23453667[PMID] |
| POMGNT1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:19139 | ENSG00000085998 | 606822 | 1p34.1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | 12788071[PMID] |
| CRPPA | Disease-causing germline mutation(s) in | Assessed | HGNC:37276 | ENSG00000214960 | 614631 | 7p21.2 | CDP-L-ribitol pyrophosphorylase A | 35863218[PMID]_33816389[PMID] |
| FKRP | Disease-causing germline mutation(s) in | Assessed | HGNC:17997 | ENSG00000181027 | 606596 | 19q13.32 | fukutin related protein | 15121789[PMID]_19299310[PMID] |
| FKTN | Disease-causing germline mutation(s) in | Assessed | HGNC:3622 | ENSG00000106692 | 607440 | 9q31.2 | fukutin | 17878207[PMID] |
| GMPPB | Disease-causing germline mutation(s) in | Assessed | HGNC:22932 | ENSG00000173540 | 615320 | 3p21.31 | GDP-mannose pyrophosphorylase B | 23768512[PMID] |
| POMT1 | Disease-causing germline mutation(s) in | Assessed | HGNC:9202 | ENSG00000130714 | 607423 | 9q34.13 | protein O-mannosyltransferase 1 | 19299310[PMID]_17878207[PMID] |
| POMT2 | Disease-causing germline mutation(s) in | Assessed | HGNC:19743 | ENSG00000009830 | 607439 | 14q24.3 | protein O-mannosyltransferase 2 | 19299310[PMID]_17878207[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
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
23 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0100543 | Cognitive impairment | |
| HP:0002353 | EEG abnormality | |
| HP:0003457 | EMG abnormality | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0001288 | Gait disturbance | |
| HP:0000501 | Glaucoma | |
| HP:0000238 | Hydrocephalus | |
| HP:0003198 | Myopathy | |
| HP:0000545 | Myopia | |
| HP:0000648 | Optic atrophy | |
| HP:0000486 | Strabismus | |
| HP:0000505 | Visual impairment | |
| Frequent (79-30%) | ||
| HP:0100022 | Abnormality of movement | |
| HP:0001608 | Abnormality of the voice | |
| HP:0000518 | Cataract | |
| HP:0001276 | Hypertonia | |
| HP:0001252 | Hypotonia | |
| HP:0001250 | Seizure | |
| Occasional (29-5%) | ||
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | |
| HP:0004374 | Hemiplegia/hemiparesis | |
| HP:0001360 | Holoprosencephaly | |
| HP:0002435 | Meningocele | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/588
- This record as JSON: /data/d/588.json