Morning glory disc anomaly
Synonyms: Ectasic coloboma · Morning glory syndrome
- Type
- Morphological anomaly
- Group
- Disorder
- Age of onset
- Childhood
- Status
- active
A congenital optic disc anomaly characterized by a funnel shaped excavation of the posterior fundus that incorporates the optic disc. Clinically, the optic disc malformation resembles the morning glory flower. Morning glory disc anomaly (MGDA) is usually unilateral and often results in a decrease in best-corrected visual acuity (BCVA). MGDA can be isolated or associated with other ocular or non-ocular anomalies.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Morning glory disc anomaly | Ectasic coloboma · Morning glory syndrome |
| fr | Anomalie papillaire morning glory | Colobome ectasique · Syndrome de l'anthémis du matin · Syndrome de la fleur de liseron · Syndrome morning glory |
| de | Morning-Glory-Papille | Ektatisches Kolobom · Morning glory-Anomalie · Morning-Glory-Syndrom |
| es | Síndrome de ''morning glory''' | Coloboma ectásico · Síndrome de la flor de enredadera |
| it | Anomalia del dico ottico "morning glory" | |
| nl | Morning glory-papilanomalie | Ectasisch coloboom · Morning glory-syndroom · Volubilissyndroom |
| pt | Síndrome Morning glory | Coloboma ectásico |
| pl | Anomalia tarczy nerwu wzrokowego w kształcie kwiatu powoju, syn.: zespół kwiatu powoju | Ectasic coloboma |
| cs | Svlačcový syndrom | Ektatický kolobom · Syndrom svlačcového květu |
| uk | Аномалія диску зорового нерву по типу ранкова іпомея (або аномалія по типу morning glory) | Ектазна колобома · Синдром іпомеї |
| zh | 牵牛花综合征 | 牵牛花综合症 |
| tr | Gündüz sefası diski anomalisi | Ekazik kolobom · Morning glory sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 120430 | NTBT | validated | |
| ICD-10 | Q14.2 | NTBT | attributed | validated |
| ICD-11 | LA13.7Y | NTBT | index | validated |
| MONDO | 0018169 | E | validated | |
| UMLS | C3554721 | E | validated | |
| GARD | 13354 | E | validated | |
| MedDRA | 10027974 | 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 (4):
- ORPHA:519333Congenital optic disc excavation
rare developmental anomalies during embryogenesis; rare ophthalmic disorders - ORPHA:522514Congenital optic disc excavation of genetic origin
rare genetic diseases - ORPHA:98683Syndromic disorder with strabismus
rare ophthalmic disorders - ORPHA:522520Syndromic genetic disorder with strabismus
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PAX6 | Candidate gene tested in | Not yet assessed | HGNC:8620 | ENSG00000007372 | 607108 | 11p13 | paired box 6 | 12721955[PMID] |
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.
HPO phenotypes
7 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0000646 | Amblyopia | |
| HP:0000486 | Strabismus | |
| Occasional (29-5%) | ||
| HP:0000518 | Cataract | |
| HP:0000639 | Nystagmus | |
| HP:0000588 | Optic disc coloboma | |
| HP:0000541 | Retinal detachment | |
Run the differential on the 3 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/35737
- This record as JSON: /data/d/35737.json