MCID: RRD062
MIFTS: 16

Rare Disorder with Lens Opacification

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Rare Disorder with Lens Opacification

MalaCards integrated aliases for Rare Disorder with Lens Opacification:

Name: Rare Disorder with Lens Opacification 58
Rare Cataract 58

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 58  
Rare eye diseases


External Ids:

UMLS via Orphanet 72 C0086543
Orphanet 58 ORPHA98640

Summaries for Rare Disorder with Lens Opacification

MalaCards based summary : Rare Disorder with Lens Opacification, also known as rare cataract, is related to cataract. An important gene associated with Rare Disorder with Lens Opacification is IARS2 (Isoleucyl-TRNA Synthetase 2, Mitochondrial). Affiliated tissues include eye, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Related Diseases for Rare Disorder with Lens Opacification

Diseases related to Rare Disorder with Lens Opacification via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cataract 8.8 RHO LIM2 IARS2

Symptoms & Phenotypes for Rare Disorder with Lens Opacification

GenomeRNAi Phenotypes related to Rare Disorder with Lens Opacification according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.32 IARS2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.32 IARS2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.32 IARS2 RHO
4 Increased shRNA abundance (Z-score > 2) GR00366-A-143 9.32 IARS2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.32 RHO
6 Increased shRNA abundance (Z-score > 2) GR00366-A-211 9.32 IARS2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.32 IARS2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.32 IARS2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.32 IARS2

MGI Mouse Phenotypes related to Rare Disorder with Lens Opacification:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 8.8 IARS2 LIM2 RHO

Drugs & Therapeutics for Rare Disorder with Lens Opacification

Search Clinical Trials , NIH Clinical Center for Rare Disorder with Lens Opacification

Genetic Tests for Rare Disorder with Lens Opacification

Anatomical Context for Rare Disorder with Lens Opacification

MalaCards organs/tissues related to Rare Disorder with Lens Opacification:

40
Eye

Publications for Rare Disorder with Lens Opacification

Articles related to Rare Disorder with Lens Opacification:

# Title Authors PMID Year
1
Pseudomonas aeruginosa endophthalmitis caused by contamination of the internal fluid pathways of a phacoemulsifier. 61
10198860 1999
2
[Eye and general illnesses in the public school for blind and visually handicapped students in Saarland. Developments in the last 20 years]. 61
9531802 1998
3
[A rare from of congenital cataract]. 61
6855126 1983

Variations for Rare Disorder with Lens Opacification

ClinVar genetic disease variations for Rare Disorder with Lens Opacification:

6 (show top 50) (show all 136) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IARS2 NM_018060.4(IARS2):c.2726C>T (p.Pro909Leu)SNV Pathogenic 156553 rs587783070 1:220316451-220316451 1:220143109-220143109
2 46;XY;inv(9)(q22.3q34.11)dninversion Pathogenic 267868
3 RHO NM_000539.3(RHO):c.891C>G (p.Ser297Arg)SNV Pathogenic 523376 rs142285818 3:129251570-129251570 3:129532727-129532727
4 LIM2 NM_001161748.2(LIM2):c.388C>T (p.Arg130Cys)SNV Pathogenic 625113 rs1568480054 19:51883831-51883831 19:51380577-51380577
5 WRN NM_000553.5(WRN):c.724+1G>TSNV Likely pathogenic 523380 rs1339616347 8:30925844-30925844 8:31068328-31068328
6 COL5A1 NM_001278074.1(COL5A1):c.608G>T (p.Gly203Val)SNV Likely pathogenic 523328 rs1554781700 9:137593133-137593133 9:134701287-134701287
7 COL18A1 NM_030582.4(COL18A1):c.1469-2A>GSNV Likely pathogenic 373962 rs765919785 21:46897323-46897323 21:45477409-45477409
8 COL18A1 NM_030582.4(COL18A1):c.3979C>T (p.Arg1327Ter)SNV Likely pathogenic 373961 rs1057518802 21:46929468-46929468 21:45509554-45509554
9 HSF4 NM_001040667.3(HSF4):c.1476C>A (p.Pro492=)SNV Conflicting interpretations of pathogenicity 320191 rs367756178 16:67203685-67203685 16:67169782-67169782
10 PITX2 NM_000325.6(PITX2):c.639A>T (p.Ser213=)SNV Conflicting interpretations of pathogenicity 283383 rs141176394 4:111539617-111539617 4:110618461-110618461
11 EPM2A NM_005670.4(EPM2A):c.376A>G (p.Ile126Val)SNV Conflicting interpretations of pathogenicity 167038 rs150452237 6:146007358-146007358 6:145686222-145686222
12 UPF3B NM_080632.2(UPF3B):c.758T>C (p.Ile253Thr)SNV Uncertain significance 284394 rs754982440 X:118975088-118975088 X:119841125-119841125
13 CRYGD NM_006891.4(CRYGD):c.295A>G (p.Arg99Gly)SNV Uncertain significance 333870 rs886055527 2:208986627-208986627 2:208121903-208121903
14 CRYGD NM_006891.4(CRYGD):c.482A>G (p.Asn161Ser)SNV Uncertain significance 333868 rs760434926 2:208986440-208986440 2:208121716-208121716
15 CRYGD NM_006891.3(CRYGD):c.-80A>CSNV Uncertain significance 333880 rs886055528 2:208989277-208989277 2:208124553-208124553
16 XDH NM_000379.4(XDH):c.3647C>A (p.Pro1216His)SNV Uncertain significance 335760 rs143981573 2:31562482-31562482 2:31339616-31339616
17 BFSP2 NM_003571.4(BFSP2):c.422A>C (p.Glu141Ala)SNV Uncertain significance 343407 rs886058009 3:133119349-133119349 3:133400505-133400505
18 BFSP2 NM_003571.4(BFSP2):c.722A>G (p.Tyr241Cys)SNV Uncertain significance 343411 rs886058012 3:133167482-133167482 3:133448638-133448638
19 BFSP2 NM_003571.4(BFSP2):c.*226C>ASNV Uncertain significance 343418 rs574253958 3:133194042-133194042 3:133475198-133475198
20 PITX2 NM_000325.6(PITX2):c.*572T>CSNV Uncertain significance 347289 rs886059003 4:111538709-111538709 4:110617553-110617553
21 PITX2 NM_000325.6(PITX2):c.*373_*375GTT[1]short repeat Uncertain significance 347292 rs886059004 4:111538903-111538905 4:110617747-110617749
22 BFSP2 NM_003571.4(BFSP2):c.865G>A (p.Glu289Lys)SNV Uncertain significance 343412 rs145444931 3:133169282-133169282 3:133450438-133450438
23 BFSP2 NM_003571.4(BFSP2):c.5G>A (p.Ser2Asn)SNV Uncertain significance 343397 rs886058007 3:133118932-133118932 3:133400088-133400088
24 BFSP2 NM_003571.4(BFSP2):c.437G>T (p.Arg146Leu)SNV Uncertain significance 343408 rs148759360 3:133119364-133119364 3:133400520-133400520
25 BFSP2 NM_003571.4(BFSP2):c.701T>C (p.Leu234Pro)SNV Uncertain significance 343410 rs886058011 3:133167461-133167461 3:133448617-133448617
26 BFSP2 NM_003571.4(BFSP2):c.567A>G (p.Lys189=)SNV Uncertain significance 343409 rs886058010 3:133166238-133166238 3:133447394-133447394
27 PITX2 NM_000325.6(PITX2):c.*370G>CSNV Uncertain significance 347293 rs886059005 4:111538911-111538911 4:110617755-110617755
28 PITX2 NM_000325.6(PITX2):c.*264A>CSNV Uncertain significance 347295 rs886059006 4:111539017-111539017 4:110617861-110617861
29 PITX2 NM_000325.6(PITX2):c.412-11deldeletion Uncertain significance 347299 rs886059007 4:111539855-111539855 4:110618699-110618699
30 PITX2 NM_000325.6(PITX2):c.*611A>GSNV Uncertain significance 347288 rs886059002 4:111538670-111538670 4:110617514-110617514
31 PITX2 NM_000325.6(PITX2):c.*522T>CSNV Uncertain significance 347290 rs188349821 4:111538759-111538759 4:110617603-110617603
32 PITX2 NM_000325.6(PITX2):c.*119T>ASNV Uncertain significance 347297 rs765040142 4:111539162-111539162 4:110618006-110618006
33 MIP NM_012064.4(MIP):c.*1777dupduplication Uncertain significance 309861 rs886049688 12:56843286-56843287 12:56449502-56449503
34 MIP NM_012064.4(MIP):c.*1237_*1238dupduplication Uncertain significance 309864 rs111463603 12:56843825-56843826 12:56450041-56450042
35 MIP NM_012064.4(MIP):c.*601G>ASNV Uncertain significance 309874 rs565229690 12:56844463-56844463 12:56450679-56450679
36 HSF4 NM_001040667.3(HSF4):c.1127T>C (p.Leu376Pro)SNV Uncertain significance 320188 rs373962350 16:67202778-67202778 16:67168875-67168875
37 HSF4 NM_001040667.3(HSF4):c.*30deldeletion Uncertain significance 320192 rs756298250 16:67203717-67203717 16:67169814-67169814
38 HSF4 NM_001538.3(HSF4):c.*158_*159dupTTduplication Uncertain significance 320194 rs3215366 16:67203835-67203836 16:67169932-67169933
39 TALDO1 NM_006755.2(TALDO1):c.328A>G (p.Arg110Gly)SNV Uncertain significance 523493 rs766745943 11:759056-759056 11:759056-759056
40 XDH NM_000379.4(XDH):c.1172C>T (p.Pro391Leu)SNV Uncertain significance 598996 rs1558697792 2:31602803-31602803 2:31379937-31379937
41 HSF4 NM_001040667.3(HSF4):c.741G>A (p.Glu247=)SNV Uncertain significance 320186 rs373435397 16:67201389-67201389 16:67167486-67167486
42 MMAA NM_172250.3(MMAA):c.304G>A (p.Ala102Thr)SNV Uncertain significance 523564 rs1328584680 4:146560595-146560595 4:145639443-145639443
43 EPM2A NM_005670.4(EPM2A):c.*1691G>ASNV Uncertain significance 523391 rs750320097 6:145946861-145946861 6:145625725-145625725
44 MIP NM_012064.4(MIP):c.*132deldeletion Uncertain significance 309882 rs886049691 12:56844932-56844932 12:56451148-56451148
45 MIP NM_012064.4(MIP):c.493G>A (p.Gly165Ser)SNV Uncertain significance 309884 rs886049692 12:56847407-56847407 12:56453623-56453623
46 MIP NM_012064.4(MIP):c.361-10C>TSNV Uncertain significance 309886 rs886049693 12:56847549-56847549 12:56453765-56453765
47 MIP NM_012064.4(MIP):c.98G>A (p.Arg33His)SNV Uncertain significance 309887 rs139963297 12:56848300-56848300 12:56454516-56454516
48 HSF4 NM_018378.3(FBXL8):c.896A>G (p.Tyr299Cys)SNV Uncertain significance 320166 rs777343855 16:67197494-67197494 16:67163591-67163591
49 HSF4 NM_001040667.3(HSF4):c.-191C>GSNV Uncertain significance 320174 rs769427775 16:67198524-67198524 16:67164621-67164621
50 HSF4 NM_001040667.3(HSF4):c.1137G>A (p.Pro379=)SNV Uncertain significance 320189 rs369862977 16:67202788-67202788 16:67168885-67168885

Expression for Rare Disorder with Lens Opacification

Search GEO for disease gene expression data for Rare Disorder with Lens Opacification.

Pathways for Rare Disorder with Lens Opacification

GO Terms for Rare Disorder with Lens Opacification

Sources for Rare Disorder with Lens Opacification

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
Content
Loading form....