ECTOPIA LENTIS ET PUPILLAE

General Information (adopted from Orphanet):

Synonyms, Signs: ECTOPIA LENTIS WITH ECTOPIA OF PUPIL
Number of Symptoms 14
OrphanetNr:
OMIM Id: 225200
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0009917) Persistent pupillary membrane rare [HPO:skoehler] 6 / 7739
2
(HPO:0000541) Retinal detachment rare [HPO:skoehler] 87 / 7739
3
(HPO:0001083) Ectopia lentis 45 / 7739
4
(HPO:0000518) Cataract 454 / 7739
5
(HPO:0007899) Retinal nonattachment 10 / 7739
6
(HPO:0011003) Severe Myopia rare [HPO:skoehler] 31 / 7739
7
(OMIM) Transillumination of the iris 2 / 7739
8
(OMIM) Enlarged corneal diameters (in some patients) 1 / 7739
9
(OMIM) Iris crypts and clefts underdeveloped 1 / 7739
10
(OMIM) Ectopic pupil 3 / 7739
11
(OMIM) Acute intraocular hypertension (rare) 1 / 7739
12
(OMIM) Ectopic lens 1 / 7739
13
(OMIM) Flat-appearing iris 1 / 7739
14
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Ectopia lentis et pupillae is a congenital hereditary disorder in which there is displacement of the lenses and the pupils, associated with other ocular anomalies, but without systemic manifestations. The condition is usually bilateral, with the lenses and ...
Clinical Description OMIM Colley et al. (1991) described 2 pairs of sibs and a fifth unrelated child with this disorder. The parents were nonconsanguineous in all cases. No skeletal, cardiac, or metabolic abnormalities were detected.

Goldberg (1988) described the ...

Molecular genetics OMIM In 10 affected individuals from 5 Norwegian families with ectopia lentis et pupillae mapping to chromosome 1p, Christensen et al. (2010) sequenced the candidate gene ADAMTSL4 and identified homozygosity for a 20-bp deletion (610113.0003). Obligate heterozygotes had no ...