ORPHA:726677
Global developmental delay-bilateral cataract-cerebellar atrophy-movement disorder syndrome
Synonyms: MED27-related neurodevelopmental disorder
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Global developmental delay-bilateral cataract-cerebellar atrophy-movement disorder syndrome | MED27-related neurodevelopmental disorder |
| fr | Syndrome de retard global de développement-cataracte bilatérale-atrophie cérébelleuse-anomalie du mouvement | Trouble du neurodéveloppement associé à MED27 |
| de | Globale Entwicklungsverzögerung-beidseitige Katarakt-Kleinhirnatrophie-Bewegungsstörung-Syndrom | MED27-assoziierte neurologische Entwicklungsstörung |
| es | Síndrome de retraso global del desarrollo-cataratas bilaterales-atrofia cerebelosa-trastornos del movimiento | Trastorno del neurodesarrollo asociado al gen MED27 |
| it | Sindrome ritardo dello sviluppo globale -cataratta bilaterale-atrofia cerebellare-disturbi del movimento | Malattia del neurosviluppo correlata a MED27 |
| nl | Algehele ontwikkelingsachterstand - bilateraal cataract - cerebellaire atrofie - bewegingsstoornis-syndroom | MED27-gerelateerde neurologische ontwikkelingsstoornis |
| pt | Global developmental delay-bilateral cataracts-cerebellar atrophy-movement disorder syndrome | |
| pl | Global developmental delay-bilateral cataract-cerebellar atrophy-movement disorder syndrome | = en |
| cs | Global developmental delay-bilateral cataract-cerebellar atrophy-movement disorder syndrome | = en |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 619286 | 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 (6):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:269567Genetic syndrome with a cerebellar malformation as a major feature
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:269523Syndrome with a cerebellar malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MED27 | Disease-causing germline mutation(s) in | Assessed | HGNC:2377 | ENSG00000160563 | 605044 | 9q34.13 | mediator complex subunit 27 | 33443317[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 57 cases | Worldwide | Case(s) | Validated | 33443317[PMID]_37517035[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 33443317[PMID]_37517035[PMID]_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
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/726677
- This record as JSON: /data/d/726677.json