MCID: LNS008
MIFTS: 20

Lens Position Anomaly

Categories: Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Lens Position Anomaly

MalaCards integrated aliases for Lens Position Anomaly:

Name: Lens Position Anomaly 58
Abnormality of Lens Position 6

Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q12.1
Orphanet 58 ORPHA98653

Summaries for Lens Position Anomaly

MalaCards based summary : Lens Position Anomaly, also known as abnormality of lens position, is related to lens position anomaly of genetic origin and ectopia lentis et pupillae. An important gene associated with Lens Position Anomaly is FBN1 (Fibrillin 1). Affiliated tissues include eye, and related phenotype is pigmentation.

Related Diseases for Lens Position Anomaly

Graphical network of the top 20 diseases related to Lens Position Anomaly:



Diseases related to Lens Position Anomaly

Symptoms & Phenotypes for Lens Position Anomaly

MGI Mouse Phenotypes related to Lens Position Anomaly:

46 (showing 1, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.62 ADAMTSL4 FBN1

Drugs & Therapeutics for Lens Position Anomaly

Search Clinical Trials , NIH Clinical Center for Lens Position Anomaly

Genetic Tests for Lens Position Anomaly

Anatomical Context for Lens Position Anomaly

MalaCards organs/tissues related to Lens Position Anomaly:

40
Eye

Publications for Lens Position Anomaly

Articles related to Lens Position Anomaly:

(showing 4, show less)
# Title Authors PMID Year
1
NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield. 6
28642162 2017
2
A homozygous microdeletion within ADAMTSL4 in patients with isolated ectopia lentis: evidence of a founder mutation. 6
21051722 2011
3
A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae. 6
20702823 2010
4
Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients. 6
20564469 2010

Variations for Lens Position Anomaly

ClinVar genetic disease variations for Lens Position Anomaly:

6 (showing 54, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ADAMTSL4 , ADAMTSL4-AS2 NM_019032.6(ADAMTSL4):c.767_786del (p.Gln256fs) Deletion Pathogenic 39555 rs199473693 GRCh37: 1:150526234-150526253
GRCh38: 1:150553750-150553769
2 FBN1 NM_000138.5(FBN1):c.5788+5G>A SNV Pathogenic 42394 rs193922219 GRCh37: 15:48738898-48738898
GRCh38: 15:48446701-48446701
3 FBN1 NM_000138.5(FBN1):c.3757_3760del (p.Gln1253fs) Deletion Pathogenic 978559 GRCh37: 15:48776093-48776096
GRCh38: 15:48483896-48483899
4 FBN1 NM_000138.4(FBN1):c.8016T>G (p.Cys2672Trp) SNV Likely pathogenic 374081 rs1057518883 GRCh37: 15:48707768-48707768
GRCh38: 15:48415571-48415571
5 FBN1 NM_000138.4(FBN1):c.478T>C (p.Cys160Arg) SNV Likely pathogenic 374203 rs1057518973 GRCh37: 15:48888540-48888540
GRCh38: 15:48596343-48596343
6 FBN1 NM_000138.4(FBN1):c.*1943G>T SNV Uncertain significance 316321 rs886051229 GRCh37: 15:48701244-48701244
GRCh38: 15:48409047-48409047
7 FBN1 NM_000138.4(FBN1):c.*1007G>T SNV Uncertain significance 316343 rs886051236 GRCh37: 15:48702180-48702180
GRCh38: 15:48409983-48409983
8 ADAMTSL4 NM_019032.5(ADAMTSL4):c.2178-7C>A SNV Uncertain significance 292546 rs587746986 GRCh37: 1:150530414-150530414
GRCh38: 1:150557938-150557938
9 FBN1 NM_000138.4(FBN1):c.-98G>T SNV Uncertain significance 316395 rs886051254 GRCh37: 15:48937064-48937064
GRCh38: 15:48644867-48644867
10 FBN1 NM_000138.4(FBN1):c.*286C>T SNV Uncertain significance 316355 rs886051241 GRCh37: 15:48702901-48702901
GRCh38: 15:48410704-48410704
11 FBN1 NM_000138.4(FBN1):c.*1635C>A SNV Uncertain significance 316326 rs886051232 GRCh37: 15:48701552-48701552
GRCh38: 15:48409355-48409355
12 FBN1 NM_000138.4(FBN1):c.-371T>C SNV Uncertain significance 316399 rs886051257 GRCh37: 15:48937961-48937961
GRCh38: 15:48645764-48645764
13 FBN1 NM_000138.4(FBN1):c.*2078G>T SNV Uncertain significance 316314 rs886051228 GRCh37: 15:48701109-48701109
GRCh38: 15:48408912-48408912
14 FBN1 NM_000138.4(FBN1):c.*1733A>G SNV Uncertain significance 316322 rs886051230 GRCh37: 15:48701454-48701454
GRCh38: 15:48409257-48409257
15 FBN1 NM_000138.4(FBN1):c.*202_*203del Deletion Uncertain significance 316358 rs766125141 GRCh37: 15:48702984-48702985
GRCh38: 15:48410787-48410788
16 FBN1 NM_000138.4(FBN1):c.*2578C>T SNV Uncertain significance 316299 rs761025257 GRCh37: 15:48700609-48700609
GRCh38: 15:48408412-48408412
17 FBN1 NM_000138.4(FBN1):c.*987C>T SNV Uncertain significance 316344 rs886051237 GRCh37: 15:48702200-48702200
GRCh38: 15:48410003-48410003
18 ADAMTSL4 NM_019032.5(ADAMTSL4):c.3026_3028CTC[1] (p.Pro1010del) Microsatellite Uncertain significance 292565 rs755998186 GRCh37: 1:150532318-150532320
GRCh38: 1:150559842-150559844
19 FBN1 NM_000138.4(FBN1):c.*2260C>A SNV Uncertain significance 316308 rs886051225 GRCh37: 15:48700927-48700927
GRCh38: 15:48408730-48408730
20 ADAMTSL4 NM_019032.5(ADAMTSL4):c.1750-10_1750-6del Microsatellite Uncertain significance 292536 rs886045267 GRCh37: 1:150529398-150529402
GRCh38: 1:150556922-150556926
21 FBN1 NM_000138.4(FBN1):c.6264G>C (p.Lys2088Asn) SNV Uncertain significance 316368 rs886051247 GRCh37: 15:48730014-48730014
GRCh38: 15:48437817-48437817
22 FBN1 NM_000138.4(FBN1):c.*1396C>T SNV Uncertain significance 316335 rs886051235 GRCh37: 15:48701791-48701791
GRCh38: 15:48409594-48409594
23 FBN1 NM_000138.4(FBN1):c.-387_-384delTCTC Microsatellite Uncertain significance 316400 rs886051258 GRCh37: 15:48937974-48937977
GRCh38: 15:48645777-48645780
24 ADAMTSL4 NM_019032.5(ADAMTSL4):c.1893G>A (p.Pro631=) SNV Uncertain significance 292542 rs112045022 GRCh37: 1:150529657-150529657
GRCh38: 1:150557181-150557181
25 FBN1 NM_000138.4(FBN1):c.*2594G>T SNV Uncertain significance 316298 rs886051220 GRCh37: 15:48700593-48700593
GRCh38: 15:48408396-48408396
26 FBN1 NM_000138.4(FBN1):c.6357G>C (p.Val2119=) SNV Uncertain significance 316367 rs886051246 GRCh37: 15:48729541-48729541
GRCh38: 15:48437344-48437344
27 FBN1 NM_000138.4(FBN1):c.*2421C>A SNV Uncertain significance 316304 rs886051224 GRCh37: 15:48700766-48700766
GRCh38: 15:48408569-48408569
28 FBN1 NM_000138.4(FBN1):c.*1672G>A SNV Uncertain significance 316325 rs886051231 GRCh37: 15:48701515-48701515
GRCh38: 15:48409318-48409318
29 FBN1 NM_000138.4(FBN1):c.1468+4C>A SNV Uncertain significance 316385 rs765579667 GRCh37: 15:48807580-48807580
GRCh38: 15:48515383-48515383
30 FBN1 NM_000138.4(FBN1):c.-132A>C SNV Uncertain significance 316396 rs886051255 GRCh37: 15:48937098-48937098
GRCh38: 15:48644901-48644901
31 FBN1 NM_000138.4(FBN1):c.*2443G>T SNV Uncertain significance 316303 rs886051223 GRCh37: 15:48700744-48700744
GRCh38: 15:48408547-48408547
32 FBN1 NM_000138.4(FBN1):c.*406G>T SNV Uncertain significance 316353 rs886051240 GRCh37: 15:48702781-48702781
GRCh38: 15:48410584-48410584
33 FBN1 NM_000138.4(FBN1):c.*2533C>A SNV Uncertain significance 316301 rs886051222 GRCh37: 15:48700654-48700654
GRCh38: 15:48408457-48408457
34 ADAMTSL4 NM_019032.5(ADAMTSL4):c.*457_*458GT[1] Microsatellite Uncertain significance 292575 rs886045271 GRCh37: 1:150533128-150533129
GRCh38: 1:150560652-150560653
35 FBN1 NM_000138.4(FBN1):c.5788+4C>A SNV Uncertain significance 316370 rs577301285 GRCh37: 15:48738899-48738899
GRCh38: 15:48446702-48446702
36 FBN1 NM_000138.4(FBN1):c.5672-15C>G SNV Uncertain significance 316372 rs776163620 GRCh37: 15:48739034-48739034
GRCh38: 15:48446837-48446837
37 FBN1 NM_000138.4(FBN1):c.4313G>A (p.Ser1438Asn) SNV Uncertain significance 155792 rs587782945 GRCh37: 15:48764771-48764771
GRCh38: 15:48472574-48472574
38 FBN1 NM_000138.4(FBN1):c.*938G>T SNV Uncertain significance 316348 rs886051238 GRCh37: 15:48702249-48702249
GRCh38: 15:48410052-48410052
39 FBN1 NM_000138.4(FBN1):c.*1477C>A SNV Uncertain significance 316332 rs886051233 GRCh37: 15:48701710-48701710
GRCh38: 15:48409513-48409513
40 FBN1 NM_000138.4(FBN1):c.1602T>C (p.Cys534=) SNV Uncertain significance 316384 rs377386372 GRCh37: 15:48802353-48802353
GRCh38: 15:48510156-48510156
41 FBN1 NM_000138.4(FBN1):c.2420-8T>C SNV Likely benign 137302 rs140582 GRCh37: 15:48787793-48787793
GRCh38: 15:48495596-48495596
42 FBN1 NM_000138.4(FBN1):c.8227-3C>T SNV Likely benign 316361 rs200822151 GRCh37: 15:48703579-48703579
GRCh38: 15:48411382-48411382
43 ADAMTSL4 , ADAMTSL4-AS1 NR_104133.1(ADAMTSL4-AS1):n.982A>T SNV Likely benign 368832 rs111660862 GRCh37: 1:150533425-150533425
GRCh38: 1:150560949-150560949
44 FBN1 NM_000138.4(FBN1):c.8363C>T (p.Thr2788Met) SNV Likely benign 263832 rs143007898 GRCh37: 15:48703440-48703440
GRCh38: 15:48411243-48411243
45 FBN1 NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile) SNV Likely benign 42367 rs183306990 GRCh37: 15:48760242-48760242
GRCh38: 15:48468045-48468045
46 FBN1 NM_000138.4(FBN1):c.5917+3A>G SNV Likely benign 199950 rs202158568 GRCh37: 15:48737570-48737570
GRCh38: 15:48445373-48445373
47 FBN1 NM_000138.4(FBN1):c.*1950dup Duplication Likely benign 316319 rs535798341 GRCh37: 15:48701236-48701237
GRCh38: 15:48409039-48409040
48 FBN1 NM_000138.4(FBN1):c.*960del Deletion Likely benign 316346 rs527621676 GRCh37: 15:48702227-48702227
GRCh38: 15:48410030-48410030
49 FBN1 NM_000138.4(FBN1):c.*2360C>G SNV Likely benign 316307 rs144404153 GRCh37: 15:48700827-48700827
GRCh38: 15:48408630-48408630
50 FBN1 NM_000138.4(FBN1):c.*1437G>A SNV Likely benign 316333 rs549498511 GRCh37: 15:48701750-48701750
GRCh38: 15:48409553-48409553
51 FBN1 NM_000138.5(FBN1):c.5442C>T (p.Asn1814=) SNV Likely benign 42384 rs397515822 GRCh37: 15:48744862-48744862
GRCh38: 15:48452665-48452665
52 FBN1 NM_000138.4(FBN1):c.3171C>T (p.Ser1057=) SNV Likely benign 316379 rs144400069 GRCh37: 15:48780602-48780602
GRCh38: 15:48488405-48488405
53 FBN1 NM_000138.4(FBN1):c.5066-14dup Duplication Benign 178599 rs3833018 GRCh37: 15:48755450-48755451
GRCh38: 15:48463253-48463254
54 FBN1 NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) SNV not provided 16451 rs137854475 GRCh37: 15:48779352-48779352
GRCh38: 15:48487155-48487155

Expression for Lens Position Anomaly

Search GEO for disease gene expression data for Lens Position Anomaly.

Pathways for Lens Position Anomaly

GO Terms for Lens Position Anomaly

Cellular components related to Lens Position Anomaly according to GeneCards Suite gene sharing:

(showing 3, show less)
# Name GO ID Score Top Affiliating Genes
1 collagen-containing extracellular matrix GO:0062023 9.16 FBN1 ADAMTSL4
2 endoplasmic reticulum lumen GO:0005788 8.96 FBN1 ADAMTSL4
3 extracellular matrix GO:0031012 8.62 FBN1 ADAMTSL4

Biological processes related to Lens Position Anomaly according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 8.62 FBN1 ADAMTSL4

Sources for Lens Position Anomaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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