ECTOLP
MCID: ECT033
MIFTS: 29

Ectopia Lentis Et Pupillae (ECTOLP)

Categories: Eye diseases, Genetic diseases

Aliases & Classifications for Ectopia Lentis Et Pupillae

MalaCards integrated aliases for Ectopia Lentis Et Pupillae:

Name: Ectopia Lentis Et Pupillae 56 12 73 29 6 39
Ectopia Lentis with Ectopia of Pupil 56 12 43 71
Ectolp 73

Characteristics:

OMIM:

56
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:

31
ectopia lentis et pupillae:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111648
OMIM 56 225200
MedGen 41 C1644196
UMLS 71 C1644196

Summaries for Ectopia Lentis Et Pupillae

OMIM : 56 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

Disease Ontology : 12 An eye disease characterized by displacement of the lenses and the pupils in association with other ocular anomalies that has material basis in homozygous or compound heterozygous mutation mutation in ADAMTSL4 on chromosome 1q21.2.

UniProtKB/Swiss-Prot : 73 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:

(show all 23)
# Related Disease Score Top Affiliating Genes
1 isolated ectopia lentis 11.1
2 retinal detachment 10.7
3 myopia 10.7
4 ectopia pupillae 10.6
5 astigmatism 10.6
6 autosomal recessive disease 10.6
7 cataract 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:

31
# Description HPO Frequency HPO Source Accession
1 retinal detachment 31 occasional (7.5%) HP:0000541
2 high myopia 31 occasional (7.5%) HP:0011003
3 persistent pupillary membrane 31 occasional (7.5%) HP:0009917
4 cataract 31 HP:0000518
5 ectopia lentis 31 HP:0001083

Symptoms via clinical synopsis from OMIM:

56
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

Cochrane evidence based reviews: ectopia lentis with ectopia of pupil

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:

40
Eye, Skin

Publications for Ectopia Lentis Et Pupillae

Articles related to Ectopia Lentis Et Pupillae:

(show all 36)
# Title Authors PMID Year
1
A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis. 61 56 6
22736615 2012
2
A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae. 61 56 6
20702823 2010
3
Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients. 56 6
20564469 2010
4
ADAMTSL4-Related Eye Disorders 61 6
22338190 2012
5
Ectopia lentis et pupillae syndrome in three generations. 61 56
7696232 1995
6
Ectopia lentis et pupillae: the genetic aspects and differential diagnosis. 61 56
1770538 1991
7
Clinical manifestations of ectopia lentis et pupillae in 16 patients. 61 56
3266004 1988
8
Ectopia lentis et pupillae. 61 56
938292 1976
9
Dominant ectopia lentis et pupillae. 61 56
13661151 1959
10
A homozygous microdeletion within ADAMTSL4 in patients with isolated ectopia lentis: evidence of a founder mutation. 6
21051722 2011
11
[Not Available]. 56
20264072 1947
12
Intra-lenticular lens aspiration in paediatric cases with anterior dislocation of lens. 61
30944461 2019
13
Ectopia Lentis et Pupillae Caused by ADAMTSL4 Pathogenic Variants and an Algorithm for Work-up. 61
31282960 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. 61
30661044 2019
15
Genetics of ectopia lentis. 61
24138040 2013
16
Ectopia lentis et pupillae in four generations caused by novel mutations in the ADAMTSL4 gene. 61
23426735 2013
17
ADAMTSL4, a secreted glycoprotein widely distributed in the eye, binds fibrillin-1 microfibrils and accelerates microfibril biogenesis. 61
21989719 2012
18
Congenital ocular malformations (lens subluxation, pupillary displacement, cataract, myopia) and classic galactosaemia associated with Q188R and /or G1391A mutations. 61
20222886 2011
19
Ectopia lentis et pupillae: report of a unilateral case and surgical management. 61
16315041 2006
20
Management of bilateral ectopia lentis et pupillae syndrome. 61
16468556 2006
21
[Ectopia lentis et pupillae: case report]. 61
17344990 2005
22
Functional and structural outcomes following lensectomy for ectopia lentis. 61
16102486 2005
23
Cleft lip and palate with ectopia lentis et pupillae. 61
12939682 2003
24
Vitrectomy for phacolytic glaucoma in a patient with ectopia lentis et pupillae. 61
12640414 2003
25
Ectopia lentis et pupillae with patchy depigmentation of the skin, hair and lashes: a new association. 61
9793775 1998
26
Ectopia lentis et pupillae. A hypothesis revisited. 61
9663242 1998
27
Congenital ectopia lentis. A Danish national survey. 61
9541430 1998
28
Idiopathic tractional corectopia. 61
7714703 1994
29
Hereditary ectopia lentis. A series of 10 cases of ectopia lentis et pupillae. 61
1840993 1991
30
Ectopia lentis et pupillae. 61
2807501 1989
31
Clinical manifestations of ectopia lentis et pupillae in 16 patients. 61
2979048 1988
32
Ectopia lentis et pupillae. 61
314755 1979
33
Iris transillumination and variable expression in ectopia lentis et pupillae. 61
868964 1977
34
Ectopia lentis et pupillae. 61
4434668 1974
35
Ectopia lentis et pupillae. 61
5173136 1971
36
Ectopia Lentis et Pupillae. 61
17948448 1960

Variations for Ectopia Lentis Et Pupillae

ClinVar genetic disease variations for Ectopia Lentis Et Pupillae:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ADAMTSL4 NM_019032.5(ADAMTSL4):c.767_786del (p.Gln256fs)deletion Pathogenic 39555 rs199473693 1:150526234-150526253 1:150553750-150553769
2 ADAMTSL4 NM_019032.5(ADAMTSL4):c.826_836del (p.Arg276fs)deletion Pathogenic 39556 rs794726688 1:150526292-150526302 1:150553816-150553826
3 ADAMTSL4 NM_019032.5(ADAMTSL4):c.2270dup (p.Gly758fs)duplication Pathogenic 39559 rs747160538 1:150530505-150530506 1:150558029-150558030
4 ADAMTSL4 NM_019032.5(ADAMTSL4):c.2560-4G>ASNV Conflicting interpretations of pathogenicity 626059 rs374389962 1:150531434-150531434 1:150558958-150558958
5 ADAMTSL4 NM_019032.5(ADAMTSL4):c.2944-7G>ASNV Conflicting interpretations of pathogenicity 626060 rs193025475 1:150532230-150532230 1:150559754-150559754
6 ADAMTSL4 NM_019032.5(ADAMTSL4):c.1234+90G>ASNV Uncertain significance 626056 rs762772611 1:150527033-150527033 1:150554557-150554557
7 ADAMTSL4 NM_019032.5(ADAMTSL4):c.1378G>A (p.Gly460Ser)SNV Uncertain significance 626057 rs587749107 1:150528644-150528644 1:150556168-150556168
8 ADAMTSL4 NM_019032.5(ADAMTSL4):c.2178-10G>TSNV Uncertain significance 626058 rs766540875 1:150530411-150530411 1:150557935-150557935
9 ADAMTSL4 NM_019032.5(ADAMTSL4):c.2442T>C (p.Asn814=)SNV Benign 261076 rs10888382 1:150531008-150531008 1:150558532-150558532
10 ADAMTSL4 NM_019032.5(ADAMTSL4):c.2484G>A (p.Pro828=)SNV Benign 261077 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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