Aliases & Classifications for Ectopia Lentis Et Pupillae

MalaCards integrated aliases for Ectopia Lentis Et Pupillae:

Name: Ectopia Lentis Et Pupillae 57 75 29 6 40
Ectopia Lentis with Ectopia of Pupil 57 73
Ectolp 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variability in extent of dislocation of lens and/or displacement of pupil, both within families and between eyes in a single individual


HPO:

32
ectopia lentis et pupillae:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ectopia Lentis Et Pupillae

OMIM : 57 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 pupils displaced in opposite directions (summary by Cruysberg and Pinckers, 1995). Additional signs include enlarged corneal diameter, increased corneal astigmatism, increased anterior chamber depth, thinning and flattening of the iris with loss of crypts, angle malformation caused by enlarged iris processes, persistent pupillary membrane, loss of zonular fibers, tilted disc, and increased axial length. Secondary manifestations include refractive errors, glaucoma, early cataract development, and retinal detachment. Membrane formation on the posterior aspect of the iris has been observed both in histologic sections and on ultrasound biomicroscopy (summary by Christensen et al., 2010). (225200)

MalaCards based summary : Ectopia Lentis Et Pupillae, also known as ectopia lentis with ectopia of pupil, is related to isolated ectopia lentis and phacolytic glaucoma. An important gene associated with Ectopia Lentis Et Pupillae is ADAMTSL4 (ADAMTS Like 4). Affiliated tissues include eye and skin, and related phenotypes are cataract and retinal detachment

UniProtKB/Swiss-Prot : 75 Ectopia lentis et pupillae: An ocular abnormality characterized by 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 pupils displaced in opposite directions. Additional signs include enlarged corneal diameter, increased corneal astigmatism, increased anterior chamber depth, thinning and flattening of the iris with loss of crypts, angle malformation caused by enlarged iris processes, persistent pupillary membrane, loss of zonular fibers, tilted disk, and increased axial length. Secondary manifestations include refractive errors, glaucoma, early cataract development, and retinal detachment. Membrane formation on the posterior aspect of the iris has been observed both in histologic sections and on ultrasound biomicroscopy.

Related Diseases for Ectopia Lentis Et Pupillae

Diseases related to Ectopia Lentis Et Pupillae via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 isolated ectopia lentis 10.9
2 phacolytic glaucoma 10.2
3 cleft lip 10.2
4 cleft lip/palate 10.2

Symptoms & Phenotypes for Ectopia Lentis Et Pupillae

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
ectopic lens
ectopic pupil
flat-appearing iris
iris crypts and clefts underdeveloped
enlarged corneal diameters (in some patients)
more

Clinical features from OMIM:

225200

Human phenotypes related to Ectopia Lentis Et Pupillae:

32
# Description HPO Frequency HPO Source Accession
1 cataract 32 HP:0000518
2 retinal detachment 32 occasional (7.5%) HP:0000541
3 ectopia lentis 32 HP:0001083
4 persistent pupillary membrane 32 occasional (7.5%) HP:0009917
5 high myopia 32 occasional (7.5%) HP:0011003

Drugs & Therapeutics for Ectopia Lentis Et Pupillae

Search Clinical Trials , NIH Clinical Center for Ectopia Lentis Et Pupillae

Genetic Tests for Ectopia Lentis Et Pupillae

Genetic tests related to Ectopia Lentis Et Pupillae:

# Genetic test Affiliating Genes
1 Ectopia Lentis Et Pupillae 29 ADAMTSL4

Anatomical Context for Ectopia Lentis Et Pupillae

MalaCards organs/tissues related to Ectopia Lentis Et Pupillae:

41
Eye, Skin

Publications for Ectopia Lentis Et Pupillae

Articles related to Ectopia Lentis Et Pupillae:

(show all 21)
# Title Authors Year
1
Ectopia lentis et pupillae in four generations caused by novel mutations in the ADAMTSL4 gene. ( 23426735 )
2013
2
A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae. ( 20702823 )
2010
3
Management of bilateral ectopia lentis et pupillae syndrome. ( 16468556 )
2006
4
Ectopia lentis et pupillae: report of a unilateral case and surgical management. ( 16315041 )
2006
5
Cleft lip and palate with ectopia lentis et pupillae. ( 12939682 )
2003
6
Vitrectomy for phacolytic glaucoma in a patient with ectopia lentis et pupillae. ( 12640414 )
2003
7
Ectopia lentis et pupillae. A hypothesis revisited. ( 9663242 )
1998
8
Ectopia lentis et pupillae with patchy depigmentation of the skin, hair and lashes: a new association. ( 9793775 )
1998
9
Ectopia lentis et pupillae syndrome in three generations. ( 7696232 )
1995
10
Hereditary ectopia lentis. A series of 10 cases of ectopia lentis et pupillae. ( 1840993 )
1991
11
Ectopia lentis et pupillae: the genetic aspects and differential diagnosis. ( 1770538 )
1991
12
Ectopia lentis et pupillae. ( 2807501 )
1989
13
Clinical manifestations of ectopia lentis et pupillae in 16 patients. ( 3266004 )
1988
14
Clinical manifestations of ectopia lentis et pupillae in 16 patients. ( 2979048 )
1988
15
Ectopia lentis et pupillae. ( 314755 )
1979
16
Iris transillumination and variable expression in ectopia lentis et pupillae. ( 868964 )
1977
17
Ectopia lentis et pupillae. ( 938292 )
1976
18
Ectopia lentis et pupillae. ( 4434668 )
1974
19
Ectopia lentis et pupillae. ( 5173136 )
1971
20
Ectopia Lentis et Pupillae. ( 17948448 )
1960
21
Dominant ectopia lentis et pupillae. ( 13661151 )
1959

Variations for Ectopia Lentis Et Pupillae

ClinVar genetic disease variations for Ectopia Lentis Et Pupillae:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ADAMTSL4 NM_019032.5(ADAMTSL4): c.767_786del20 (p.Gln256Profs) deletion Pathogenic rs199473693 GRCh37 Chromosome 1, 150526234: 150526253
2 ADAMTSL4 NM_019032.5(ADAMTSL4): c.767_786del20 (p.Gln256Profs) deletion Pathogenic rs199473693 GRCh38 Chromosome 1, 150553758: 150553777
3 ADAMTSL4 NM_019032.5(ADAMTSL4): c.826_836delCGTGCATCCCC (p.Arg276Serfs) deletion Pathogenic rs794726688 GRCh37 Chromosome 1, 150526293: 150526303
4 ADAMTSL4 NM_019032.5(ADAMTSL4): c.826_836delCGTGCATCCCC (p.Arg276Serfs) deletion Pathogenic rs794726688 GRCh38 Chromosome 1, 150553817: 150553827
5 ADAMTSL4 NM_019032.5(ADAMTSL4): c.2270dupG (p.Gly758Trpfs) duplication Pathogenic rs794726690 GRCh37 Chromosome 1, 150530513: 150530513
6 ADAMTSL4 NM_019032.5(ADAMTSL4): c.2270dupG (p.Gly758Trpfs) duplication Pathogenic rs794726690 GRCh38 Chromosome 1, 150558037: 150558037
7 ADAMTSL4 NM_019032.5(ADAMTSL4): c.2442T> C (p.Asn814=) single nucleotide variant Benign rs10888382 GRCh37 Chromosome 1, 150531008: 150531008
8 ADAMTSL4 NM_019032.5(ADAMTSL4): c.2442T> C (p.Asn814=) single nucleotide variant Benign rs10888382 GRCh38 Chromosome 1, 150558532: 150558532
9 ADAMTSL4 NM_019032.5(ADAMTSL4): c.2484G> A (p.Pro828=) single nucleotide variant Benign rs10749657 GRCh37 Chromosome 1, 150531050: 150531050
10 ADAMTSL4 NM_019032.5(ADAMTSL4): c.2484G> A (p.Pro828=) single nucleotide variant Benign rs10749657 GRCh38 Chromosome 1, 150558574: 150558574

Expression for Ectopia Lentis Et Pupillae

Search GEO for disease gene expression data for Ectopia Lentis Et Pupillae.

Pathways for Ectopia Lentis Et Pupillae

GO Terms for Ectopia Lentis Et Pupillae

Sources for Ectopia Lentis Et Pupillae

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
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40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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