ECTOLP
MCID: ECT033
MIFTS: 25

Ectopia Lentis Et Pupillae (ECTOLP)

Categories: Genetic diseases

Aliases & Classifications for Ectopia Lentis Et Pupillae

MalaCards integrated aliases for Ectopia Lentis Et Pupillae:

Name: Ectopia Lentis Et Pupillae 58 76 30 6 41
Ectopia Lentis with Ectopia of Pupil 58 74
Ectolp 76

Characteristics:

OMIM:

58
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:

33
ectopia lentis et pupillae:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ectopia Lentis Et Pupillae

OMIM : 58 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 ectopia lentis 2, isolated, autosomal recessive. An important gene associated with Ectopia Lentis Et Pupillae is ADAMTSL4 (ADAMTS Like 4). Affiliated tissues include eye and skin, and related phenotypes are retinal detachment and persistent pupillary membrane

UniProtKB/Swiss-Prot : 76 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 11.1
2 ectopia lentis 2, isolated, autosomal recessive 10.4
3 phacolytic glaucoma 10.4
4 anterior dislocation of lens 10.4
5 cleft lip 10.4
6 cleft lip/palate 10.4

Graphical network of the top 20 diseases related to Ectopia Lentis Et Pupillae:



Diseases related to Ectopia Lentis Et Pupillae

Symptoms & Phenotypes for Ectopia Lentis Et Pupillae

Human phenotypes related to Ectopia Lentis Et Pupillae:

33
# Description HPO Frequency HPO Source Accession
1 retinal detachment 33 occasional (7.5%) HP:0000541
2 persistent pupillary membrane 33 occasional (7.5%) HP:0009917
3 high myopia 33 occasional (7.5%) HP:0011003
4 cataract 33 HP:0000518
5 ectopia lentis 33 HP:0001083

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
cataract
retinal detachment (rare)
ectopic pupil
high myopia (in some patients)
ectopic lens
more

Clinical features from OMIM:

225200

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 30 ADAMTSL4

Anatomical Context for Ectopia Lentis Et Pupillae

MalaCards organs/tissues related to Ectopia Lentis Et Pupillae:

42
Eye, Skin

Publications for Ectopia Lentis Et Pupillae

Articles related to Ectopia Lentis Et Pupillae:

(show all 25)
# Title Authors Year
1
Spontaneous anterior dislocation of lens in a case of ectopia lentis et pupillae: a rare entity treated by a novel technique of microscope integrated optical coherence tomography (MIOCT) guided intralenticular lens aspiration. ( 30661044 )
2019
2
Ectopia lentis et pupillae in four generations caused by novel mutations in the ADAMTSL4 gene. ( 23426735 )
2013
3
A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis. ( 22736615 )
2012
4
A homozygous microdeletion within ADAMTSL4 in patients with isolated ectopia lentis: evidence of a founder mutation. ( 21051722 )
2011
5
A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae. ( 20702823 )
2010
6
Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients. ( 20564469 )
2010
7
Ectopia lentis et pupillae: report of a unilateral case and surgical management. ( 16315041 )
2006
8
Management of bilateral ectopia lentis et pupillae syndrome. ( 16468556 )
2006
9
Vitrectomy for phacolytic glaucoma in a patient with ectopia lentis et pupillae. ( 12640414 )
2003
10
Cleft lip and palate with ectopia lentis et pupillae. ( 12939682 )
2003
11
Ectopia lentis et pupillae. A hypothesis revisited. ( 9663242 )
1998
12
Ectopia lentis et pupillae with patchy depigmentation of the skin, hair and lashes: a new association. ( 9793775 )
1998
13
Ectopia lentis et pupillae syndrome in three generations. ( 7696232 )
1995
14
Ectopia lentis et pupillae: the genetic aspects and differential diagnosis. ( 1770538 )
1991
15
Hereditary ectopia lentis. A series of 10 cases of ectopia lentis et pupillae. ( 1840993 )
1991
16
Ectopia lentis et pupillae. ( 2807501 )
1989
17
Clinical manifestations of ectopia lentis et pupillae in 16 patients. ( 2979048 )
1988
18
Clinical manifestations of ectopia lentis et pupillae in 16 patients. ( 3266004 )
1988
19
Ectopia lentis et pupillae. ( 314755 )
1979
20
Iris transillumination and variable expression in ectopia lentis et pupillae. ( 868964 )
1977
21
Ectopia lentis et pupillae. ( 938292 )
1976
22
Ectopia lentis et pupillae. ( 4434668 )
1974
23
Ectopia lentis et pupillae. ( 5173136 )
1971
24
Ectopia Lentis et Pupillae. ( 17948448 )
1960
25
Dominant ectopia lentis et pupillae. ( 13661151 )
1959

Variations for Ectopia Lentis Et Pupillae

ClinVar genetic disease variations for Ectopia Lentis Et Pupillae:

6 (show all 20)
# 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_836del11 (p.Arg276Serfs) deletion Pathogenic rs794726688 GRCh37 Chromosome 1, 150526293: 150526303
4 ADAMTSL4 NM_019032.5(ADAMTSL4): c.826_836del11 (p.Arg276Serfs) deletion Pathogenic rs794726688 GRCh38 Chromosome 1, 150553817: 150553827
5 ADAMTSL4 NM_019032.5(ADAMTSL4): c.2270dupG (p.Gly758Trpfs) duplication Pathogenic rs747160538 GRCh37 Chromosome 1, 150530513: 150530513
6 ADAMTSL4 NM_019032.5(ADAMTSL4): c.2270dupG (p.Gly758Trpfs) duplication Pathogenic rs747160538 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
11 ADAMTSL4 NM_019032.5(ADAMTSL4): c.1234+90G> A single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 150527033: 150527033
12 ADAMTSL4 NM_019032.5(ADAMTSL4): c.1234+90G> A single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 150554557: 150554557
13 ADAMTSL4 NM_019032.5(ADAMTSL4): c.1378G> A (p.Gly460Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 150528644: 150528644
14 ADAMTSL4 NM_019032.5(ADAMTSL4): c.1378G> A (p.Gly460Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 150556168: 150556168
15 ADAMTSL4 NM_019032.5(ADAMTSL4): c.2178-10G> T single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 150530411: 150530411
16 ADAMTSL4 NM_019032.5(ADAMTSL4): c.2178-10G> T single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 150557935: 150557935
17 ADAMTSL4 NM_019032.5(ADAMTSL4): c.2560-4G> A single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 150531434: 150531434
18 ADAMTSL4 NM_019032.5(ADAMTSL4): c.2560-4G> A single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 150558958: 150558958
19 ADAMTSL4 NM_019032.5(ADAMTSL4): c.2944-7G> A single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 150532230: 150532230
20 ADAMTSL4 NM_019032.5(ADAMTSL4): c.2944-7G> A single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 150559754: 150559754

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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