ECTOLP
MCID: ECT033
MIFTS: 27

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 57 74 29 6 40
Ectopia Lentis with Ectopia of Pupil 57 72
Ectolp 74

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:



External Ids:

OMIM 57 225200
MedGen 42 C1644196
UMLS 72 C1644196

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 retinal detachment. 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 high myopia

UniProtKB/Swiss-Prot : 74 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:

(showing 23, show less)
# Related Disease Score Top Affiliating Genes
1 isolated ectopia lentis 11.1
2 retinal detachment 10.7
3 myopia 10.7
4 cataract 10.7
5 ectopia pupillae 10.6
6 astigmatism 10.6
7 autosomal recessive disease 10.6
8 coloboma of macula 10.4
9 marfan syndrome 10.4
10 optic nerve hypoplasia, bilateral 10.4
11 strabismus 10.4
12 ectopia lentis 2, isolated, autosomal recessive 10.4
13 intraocular pressure quantitative trait locus 10.4
14 corneal edema 10.4
15 alternating exotropia 10.4
16 exotropia 10.4
17 phacolytic glaucoma 10.4
18 anterior dislocation of lens 10.4
19 homocystinuria 10.4
20 cleft lip 10.4
21 mechanical strabismus 10.4
22 adamtsl4-related eye disorders 10.4
23 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:

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

Symptoms via clinical synopsis from OMIM:

57
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 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:

(showing 36, show less)
# Title Authors PMID Year
1
A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis. 38 8 71
22736615 2012
2
A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae. 38 8 71
20702823 2010
3
Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients. 8 71
20564469 2010
4
ADAMTSL4-Related Eye Disorders 38 71
22338190 2012
5
Ectopia lentis et pupillae syndrome in three generations. 38 8
7696232 1995
6
Ectopia lentis et pupillae: the genetic aspects and differential diagnosis. 38 8
1770538 1991
7
Clinical manifestations of ectopia lentis et pupillae in 16 patients. 38 8
3266004 1988
8
Ectopia lentis et pupillae. 38 8
938292 1976
9
Dominant ectopia lentis et pupillae. 38 8
13661151 1959
10
A homozygous microdeletion within ADAMTSL4 in patients with isolated ectopia lentis: evidence of a founder mutation. 71
21051722 2011
11
[Not Available]. 8
20264072 1947
12
Ectopia Lentis et Pupillae Caused by ADAMTSL4 Pathogenic Variants and an Algorithm for Work-up. 38
31282960 2019
13
Intra-lenticular lens aspiration in paediatric cases with anterior dislocation of lens. 38
30944461 2019
14
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. 38
30661044 2019
15
Genetics of ectopia lentis. 38
24138040 2013
16
Ectopia lentis et pupillae in four generations caused by novel mutations in the ADAMTSL4 gene. 38
23426735 2013
17
ADAMTSL4, a secreted glycoprotein widely distributed in the eye, binds fibrillin-1 microfibrils and accelerates microfibril biogenesis. 38
21989719 2012
18
Congenital ocular malformations (lens subluxation, pupillary displacement, cataract, myopia) and classic galactosaemia associated with Q188R and /or G1391A mutations. 38
20222886 2011
19
Ectopia lentis et pupillae: report of a unilateral case and surgical management. 38
16315041 2006
20
Management of bilateral ectopia lentis et pupillae syndrome. 38
16468556 2006
21
[Ectopia lentis et pupillae: case report]. 38
17344990 2005
22
Functional and structural outcomes following lensectomy for ectopia lentis. 38
16102486 2005
23
Cleft lip and palate with ectopia lentis et pupillae. 38
12939682 2003
24
Vitrectomy for phacolytic glaucoma in a patient with ectopia lentis et pupillae. 38
12640414 2003
25
Ectopia lentis et pupillae with patchy depigmentation of the skin, hair and lashes: a new association. 38
9793775 1998
26
Ectopia lentis et pupillae. A hypothesis revisited. 38
9663242 1998
27
Congenital ectopia lentis. A Danish national survey. 38
9541430 1998
28
Idiopathic tractional corectopia. 38
7714703 1994
29
Hereditary ectopia lentis. A series of 10 cases of ectopia lentis et pupillae. 38
1840993 1991
30
Ectopia lentis et pupillae. 38
2807501 1989
31
Clinical manifestations of ectopia lentis et pupillae in 16 patients. 38
2979048 1988
32
Ectopia lentis et pupillae. 38
314755 1979
33
Iris transillumination and variable expression in ectopia lentis et pupillae. 38
868964 1977
34
Ectopia lentis et pupillae. 38
4434668 1974
35
Ectopia lentis et pupillae. 38
5173136 1971
36
Ectopia Lentis et Pupillae. 38
17948448 1960

Variations for Ectopia Lentis Et Pupillae

ClinVar genetic disease variations for Ectopia Lentis Et Pupillae:

6 (showing 10, show less)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ADAMTSL4 NM_019032.5(ADAMTSL4): c.767_786del (p.Gln256fs) deletion Pathogenic rs199473693 1:150526234-150526253 1:150553758-150553777
2 ADAMTSL4 NM_019032.5(ADAMTSL4): c.826_836del (p.Arg276fs) deletion Pathogenic rs794726688 1:150526293-150526303 1:150553817-150553827
3 ADAMTSL4 NM_019032.5(ADAMTSL4): c.2270dup (p.Gly758fs) duplication Pathogenic rs747160538 1:150530513-150530513 1:150558037-150558037
4 ADAMTSL4 NM_019032.5(ADAMTSL4): c.1234+90G> A single nucleotide variant Uncertain significance 1:150527033-150527033 1:150554557-150554557
5 ADAMTSL4 NM_019032.5(ADAMTSL4): c.1378G> A (p.Gly460Ser) single nucleotide variant Uncertain significance 1:150528644-150528644 1:150556168-150556168
6 ADAMTSL4 NM_019032.5(ADAMTSL4): c.2178-10G> T single nucleotide variant Uncertain significance 1:150530411-150530411 1:150557935-150557935
7 ADAMTSL4 NM_019032.5(ADAMTSL4): c.2560-4G> A single nucleotide variant Uncertain significance 1:150531434-150531434 1:150558958-150558958
8 ADAMTSL4 NM_019032.5(ADAMTSL4): c.2944-7G> A single nucleotide variant Uncertain significance 1:150532230-150532230 1:150559754-150559754
9 ADAMTSL4 NM_019032.5(ADAMTSL4): c.2442T> C (p.Asn814=) single nucleotide variant Benign rs10888382 1:150531008-150531008 1:150558532-150558532
10 ADAMTSL4 NM_019032.5(ADAMTSL4): c.2484G> A (p.Pro828=) single nucleotide variant Benign rs10749657 1:150531050-150531050 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 EFO
18 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
38 LifeMap
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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