Isolated ectopia lentis

General Information (adopted from Orphanet):

Synonyms, Signs: Ectopia lentis syndrome
Familial ectopia lentis
Number of Symptoms 15
OrphanetNr: 1885
OMIM Id: 129600
225100
225200
ICD-10: Q12.1
UMLs: C0013581
MeSH: C536184
D004479
MedDRA: 10014145
Snomed: 74969002

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Autosomal recessive
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Lens position anomaly
 -Rare eye disease
 -Rare genetic disease
Marfan and Marfan-related disorder
 -Rare genetic disease
 -Rare systemic or rheumatologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001083) Ectopia lentis Very frequent [Orphanet] 45 / 7739
2
 (HPO:0000541) Retinal detachment Occasional [Orphanet] 87 / 7739
3
 (HPO:0000501) Glaucoma Frequent [Orphanet] 180 / 7739
4
 (HPO:0000540) Hypermetropia Occasional [Orphanet] 99 / 7739
5
 (HPO:0100719) Lens coloboma Occasional [Orphanet] 4 / 7739
6
 (HPO:0000483) Astigmatism Frequent [Orphanet] 67 / 7739
7
 (HPO:0000615) Abnormality of the pupil Occasional [Orphanet] 39 / 7739
8
 (HPO:0001131) Corneal dystrophy Very frequent [Orphanet] 56 / 7739
9
 (HPO:0007700) Anterior segment dysgenesis Occasional [Orphanet] 9 / 7739
10
 (HPO:0000517) Abnormality of the lens Occasional [Orphanet] 12 / 7739
11
 (HPO:0007720) Flat cornea Very frequent [Orphanet] 6 / 7739
12
 (HPO:0000572) Visual loss Occasional [Orphanet] 272 / 7739
13
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
14
 (HPO:0001519) Disproportionate tall stature Occasional [Orphanet] 39 / 7739
15
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: