Morning glory syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: MORNING GLORY DISC, INCLUDED
Ectasic coloboma
Volubilis syndrome
Number of Symptoms 10
OrphanetNr: 35737
OMIM Id: 120430
ICD-10: Q14.2
UMLs: C0549307
MeSH:
MedDRA: 10027974
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Unknown
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Optic neuropathy
 -Rare eye disease
 -Rare genetic disease
Rare eye disease due to a differentiation anomaly
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000541) Retinal detachment Occasional [Orphanet] 87 / 7739
2
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
3
 (HPO:0000639) Nystagmus Occasional [Orphanet] 555 / 7739
4
 (HPO:0000510) Rod-cone dystrophy Very frequent [Orphanet] 266 / 7739
5
 (HPO:0000486) Strabismus Very frequent [Orphanet] 576 / 7739
6
 (HPO:0000588) Optic nerve coloboma Occasional [Orphanet] 27 / 7739
7
 (HPO:0000572) Visual loss Very frequent [Orphanet] 272 / 7739
8
 (HPO:0012795) Abnormality of the optic disc Very frequent [Orphanet] 187 / 7739
9
 (OMIM) Bilateral coloboma of optic nerve 1 / 7739
10
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Congenital coloboma of the optic nerve is often associated with serious detachment of the macula. Savell and Cook (1976) observed 15 affected persons in 1 kindred. In 21 of the 30 eyes, present or past detachment of the ...
Molecular genetics OMIM In a 5-year-old girl with bilateral morning glory disc anomaly and in a 1-year-old boy who had iris anomaly, large coloboma of the optic nerve, retina, and choroid (120200), a remnant of hyaloid vessel proliferation (persistent hyperplastic primary ...