Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
Synonyms: Lissencephaly type 2 with muscular and ocular involvement · MDDGA
- Type
- Clinical group
- Group
- Group of disorders
- Status
- active
Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies (MDDGA) is a cobblestone lissencephaly characterized by and considered to be pathognomonic of a continuum of recessive autosomal disorders with brain, ocular and muscular involvement. MDDGA includes Walker-Warburg syndrome, muscle-eye-brain disease, Fukuyama muscular and cerebral dystrophy and muscle eye brain disease with bilateral multicystic leukodystrophy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies | Lissencephaly type 2 with muscular and ocular involvement · MDDGA |
| fr | Alpha-dystroglycanopathie musculaire congénitale avec atteinte cérébrale et oculaire | Lissencéphalie type 2 avec atteinte musculaire et oculaire · MDDGA |
| de | Kongenitale muskuläre alpha-Dystroglykanopathie mit Gehirn- und Augenanomalien | Lissenzephalie Typ 2 mit Gehirn- und Augenanomalien · MDDGA |
| es | Alfa-distroglicanopatía muscular congénita con anomalías cerebrales y oculares | Lisencefalia tipo 2 con afectación muscular y ocular · MDDGA |
| it | Alfadestroglicanopatia muscolare congenita con anomalie cerebrali e oculari | Lissencefalia tipo 2 con coinvolgimento oculare e muscolare · MDDGA |
| nl | Congenitale musculaire alfa-dystroglycanopathie met hersen- en ooganomalieën | Lissencefalie type 2 met betrokkenheid van spier en oog · Lissencefalie type 2 met musculaire en oculaire betrokkenheid · MDDGA |
| pt | Alfa-distroglicanopatia muscular congénita com anomalias cerebrais e oculares | |
| pl | Wrodzona alfa-dystroglikanopatia z anomaliami mózgu i oka | Lizencefalia typu 2 z zaangażowaniem mięśni i oczu · MDDGA |
| cs | Vrozená svalová alfa-dystroglykanopatie s anomáliemi mozku a oka | MDDGA · Lissencefalie typ 2 s postižením svalů a oka |
| uk | Вроджена мязова альфа-дистрогліанопатія з аномаліями головного мозку та очей | Лісенцефалія 2 типу з мязовим та очним ураженням · MDDGA |
| zh | 先天性肌源性α-糖代谢不良症伴脑和眼畸形 | 无脑回畸形2型伴肌肉和眼受累 |
| tr | Beyin ve göz anomalileri ile seyreden olan doğumsal musküler alfa-distroglikanopati | MDDGA · Kas ve oküler tutulumu ile seyreden lissensefali tip 2 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 18132 | E | validated | |
| UMLS | C5679924 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:51577Cobblestone lissencephaly
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases - ORPHA:370953Congenital muscular dystrophy due to dystroglycanopathy
rare genetic diseases; rare neurological diseases
Codes that Orphanet moved or referred to this one:
- ORPHA:352694OBSOLETE: Cobblestone lissencephaly type A referred to · inactive
- ORPHA:352699OBSOLETE: Cobblestone lissencephaly type C referred to · inactive
- ORPHA:352704OBSOLETE: Cobblestone lissencephaly type B referred to · inactive
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/352687
- This record as JSON: /data/d/352687.json