MCID: LNS008
MIFTS: 17

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 1, isolated, autosomal dominant. 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
# 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

Variations for Lens Position Anomaly

ClinVar genetic disease variations for Lens Position Anomaly:

6 (show top 50) (show all 54)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ADAMTSL4 NM_019032.6(ADAMTSL4):c.767_786del (p.Gln256fs) Deletion Pathogenic 39555 rs199473693 1:150526234-150526253 1:150553750-150553769
2 FBN1 NM_000138.5(FBN1):c.3757_3760del (p.Gln1253fs) Deletion Pathogenic 978559 15:48776093-48776096 15:48483896-48483899
3 FBN1 NM_000138.5(FBN1):c.5788+5G>A SNV Pathogenic 42394 rs193922219 15:48738898-48738898 15:48446701-48446701
4 FBN1 NM_000138.4(FBN1):c.8016T>G (p.Cys2672Trp) SNV Likely pathogenic 374081 rs1057518883 15:48707768-48707768 15:48415571-48415571
5 FBN1 NM_000138.4(FBN1):c.478T>C (p.Cys160Arg) SNV Likely pathogenic 374203 rs1057518973 15:48888540-48888540 15:48596343-48596343
6 FBN1 NM_000138.4(FBN1):c.*938G>T SNV Uncertain significance 316348 rs886051238 15:48702249-48702249 15:48410052-48410052
7 FBN1 NM_000138.4(FBN1):c.*286C>T SNV Uncertain significance 316355 rs886051241 15:48702901-48702901 15:48410704-48410704
8 FBN1 NM_000138.4(FBN1):c.*1635C>A SNV Uncertain significance 316326 rs886051232 15:48701552-48701552 15:48409355-48409355
9 FBN1 NM_000138.4(FBN1):c.-371T>C SNV Uncertain significance 316399 rs886051257 15:48937961-48937961 15:48645764-48645764
10 ADAMTSL4 NM_019032.5(ADAMTSL4):c.3026_3028CTC[1] (p.Pro1010del) Microsatellite Uncertain significance 292565 rs755998186 1:150532318-150532320 1:150559842-150559844
11 FBN1 NM_000138.4(FBN1):c.-98G>T SNV Uncertain significance 316395 rs886051254 15:48937064-48937064 15:48644867-48644867
12 ADAMTSL4 NM_019032.5(ADAMTSL4):c.1750-10_1750-6del Microsatellite Uncertain significance 292536 rs886045267 1:150529398-150529402 1:150556922-150556926
13 ADAMTSL4 NM_019032.5(ADAMTSL4):c.1893G>A (p.Pro631=) SNV Uncertain significance 292542 rs112045022 1:150529657-150529657 1:150557181-150557181
14 ADAMTSL4 NM_019032.5(ADAMTSL4):c.*457_*458GT[1] Microsatellite Uncertain significance 292575 rs886045271 1:150533128-150533129 1:150560652-150560653
15 ADAMTSL4 NM_019032.5(ADAMTSL4):c.2178-7C>A SNV Uncertain significance 292546 rs587746986 1:150530414-150530414 1:150557938-150557938
16 FBN1 NM_000138.4(FBN1):c.*2260C>A SNV Uncertain significance 316308 rs886051225 15:48700927-48700927 15:48408730-48408730
17 FBN1 NM_000138.4(FBN1):c.6264G>C (p.Lys2088Asn) SNV Uncertain significance 316368 rs886051247 15:48730014-48730014 15:48437817-48437817
18 FBN1 NM_000138.4(FBN1):c.*1396C>T SNV Uncertain significance 316335 rs886051235 15:48701791-48701791 15:48409594-48409594
19 FBN1 NM_000138.4(FBN1):c.-387_-384delTCTC Microsatellite Uncertain significance 316400 rs886051258 15:48937974-48937977 15:48645777-48645780
20 FBN1 NM_000138.4(FBN1):c.*2594G>T SNV Uncertain significance 316298 rs886051220 15:48700593-48700593 15:48408396-48408396
21 FBN1 NM_000138.4(FBN1):c.5672-15C>G SNV Uncertain significance 316372 rs776163620 15:48739034-48739034 15:48446837-48446837
22 FBN1 NM_000138.4(FBN1):c.4313G>A (p.Ser1438Asn) SNV Uncertain significance 155792 rs587782945 15:48764771-48764771 15:48472574-48472574
23 FBN1 NM_000138.4(FBN1):c.6357G>C (p.Val2119=) SNV Uncertain significance 316367 rs886051246 15:48729541-48729541 15:48437344-48437344
24 FBN1 NM_000138.4(FBN1):c.*2421C>A SNV Uncertain significance 316304 rs886051224 15:48700766-48700766 15:48408569-48408569
25 FBN1 NM_000138.4(FBN1):c.*1672G>A SNV Uncertain significance 316325 rs886051231 15:48701515-48701515 15:48409318-48409318
26 FBN1 NM_000138.4(FBN1):c.1468+4C>A SNV Uncertain significance 316385 rs765579667 15:48807580-48807580 15:48515383-48515383
27 FBN1 NM_000138.4(FBN1):c.-132A>C SNV Uncertain significance 316396 rs886051255 15:48937098-48937098 15:48644901-48644901
28 FBN1 NM_000138.4(FBN1):c.*2443G>T SNV Uncertain significance 316303 rs886051223 15:48700744-48700744 15:48408547-48408547
29 FBN1 NM_000138.4(FBN1):c.*406G>T SNV Uncertain significance 316353 rs886051240 15:48702781-48702781 15:48410584-48410584
30 FBN1 NM_000138.4(FBN1):c.*2533C>A SNV Uncertain significance 316301 rs886051222 15:48700654-48700654 15:48408457-48408457
31 FBN1 NM_000138.4(FBN1):c.5788+4C>A SNV Uncertain significance 316370 rs577301285 15:48738899-48738899 15:48446702-48446702
32 FBN1 NM_000138.4(FBN1):c.*987C>T SNV Uncertain significance 316344 rs886051237 15:48702200-48702200 15:48410003-48410003
33 FBN1 NM_000138.4(FBN1):c.*1943G>T SNV Uncertain significance 316321 rs886051229 15:48701244-48701244 15:48409047-48409047
34 FBN1 NM_000138.4(FBN1):c.*1007G>T SNV Uncertain significance 316343 rs886051236 15:48702180-48702180 15:48409983-48409983
35 FBN1 NM_000138.4(FBN1):c.*1477C>A SNV Uncertain significance 316332 rs886051233 15:48701710-48701710 15:48409513-48409513
36 FBN1 NM_000138.4(FBN1):c.*2078G>T SNV Uncertain significance 316314 rs886051228 15:48701109-48701109 15:48408912-48408912
37 FBN1 NM_000138.4(FBN1):c.*1733A>G SNV Uncertain significance 316322 rs886051230 15:48701454-48701454 15:48409257-48409257
38 FBN1 NM_000138.4(FBN1):c.*202_*203del Deletion Uncertain significance 316358 rs766125141 15:48702984-48702985 15:48410787-48410788
39 FBN1 NM_000138.4(FBN1):c.*2578C>T SNV Uncertain significance 316299 rs761025257 15:48700609-48700609 15:48408412-48408412
40 FBN1 NM_000138.4(FBN1):c.1602T>C (p.Cys534=) SNV Uncertain significance 316384 rs377386372 15:48802353-48802353 15:48510156-48510156
41 FBN1 NM_000138.4(FBN1):c.2420-8T>C SNV Likely benign 137302 rs140582 15:48787793-48787793 15:48495596-48495596
42 FBN1 NM_000138.4(FBN1):c.*960del Deletion Likely benign 316346 rs527621676 15:48702227-48702227 15:48410030-48410030
43 FBN1 NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile) SNV Likely benign 42367 rs183306990 15:48760242-48760242 15:48468045-48468045
44 FBN1 NM_000138.4(FBN1):c.*1437G>A SNV Likely benign 316333 rs549498511 15:48701750-48701750 15:48409553-48409553
45 FBN1 NM_000138.4(FBN1):c.5917+3A>G SNV Likely benign 199950 rs202158568 15:48737570-48737570 15:48445373-48445373
46 FBN1 NM_000138.4(FBN1):c.8227-3C>T SNV Likely benign 316361 rs200822151 15:48703579-48703579 15:48411382-48411382
47 FBN1 NM_000138.4(FBN1):c.8363C>T (p.Thr2788Met) SNV Likely benign 263832 rs143007898 15:48703440-48703440 15:48411243-48411243
48 FBN1 NM_000138.4(FBN1):c.*1950dup Duplication Likely benign 316319 rs535798341 15:48701236-48701237 15:48409039-48409040
49 FBN1 NM_000138.5(FBN1):c.5442C>T (p.Asn1814=) SNV Likely benign 42384 rs397515822 15:48744862-48744862 15:48452665-48452665
50 FBN1 NM_000138.4(FBN1):c.3171C>T (p.Ser1057=) SNV Likely benign 316379 rs144400069 15:48780602-48780602 15:48488405-48488405

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:

# 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:

# 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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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