ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE

General Information (adopted from Orphanet):

Synonyms, Signs: ECTOL2
Number of Symptoms 3
OrphanetNr:
OMIM Id: 225100
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:0001083) Ectopia lentis 45 / 7739
2
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
3
(OMIM) Ectopia lentis, uncomplicated 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Ectopia lentis (EL) is defined as an abnormal stretching of the zonular fibers that leads to lens dislocation, resulting in acute or chronic visual impairment (Greene et al., 2010).

An autosomal dominant form of isolated ectopia ...

Clinical Description OMIM Al-Salem (1990) described 2 large consanguineous Arab families of Iraqi and Jordanian origin, respectively, with bilateral isolated ectopia lentis. The condition was generally discovered at school age (5 to 6 years). All patients in both families had normal ...
Genotype-Phenotype Correlations OMIM Chandra et al. (2012) studied 16 patients with isolated ectopia lentis and identified homozygous or compound heterozygous mutations in ADAMTSL4 in 8 patients (see, e.g., 610113.0003) and heterozygous mutations in the FBN1 gene in 4 patients. No mutations ...
Molecular genetics OMIM In a large consanguineous Arab family of Jordanian origin with isolated ectopia lentis, originally reported by Al-Salem (1990), Ahram et al. (2009) identified homozygosity for a nonsense mutation in the ADAMTSL4 gene (610113.0001) that segregated with the phenotype ...