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 59
Rare Cataract 59

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 59  
Rare eye diseases


External Ids:

UMLS via Orphanet 73 C0086543
Orphanet 59 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.

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 8.9 RHO LIM2 IARS2

Symptoms & Phenotypes for Rare Disorder with Lens Opacification

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:

41
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. 38
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]. 38
9531802 1998
3
[A rare from of congenital cataract]. 38
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 Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 RHO NM_000539.3(RHO): c.891C> G (p.Ser297Arg) single nucleotide variant Pathogenic rs142285818 3:129251570-129251570 3:129532727-129532727
2 IARS2 NM_018060.4(IARS2): c.2726C> T (p.Pro909Leu) single nucleotide variant Pathogenic rs587783070 1:220316451-220316451 1:220143109-220143109
3 46;XY;inv(9)(q22.3q34.11)dn inversion Pathogenic
4 LIM2 NM_030657.4(LIM2): c.514C> T (p.Arg172Cys) single nucleotide variant Pathogenic 19:51883831-51883831 19:51380577-51380577
5 COL18A1 NM_030582.4(COL18A1): c.1469-2A> G single nucleotide variant Likely pathogenic rs765919785 21:46897323-46897323 21:45477409-45477409
6 COL18A1 NM_030582.4(COL18A1): c.3979C> T (p.Arg1327Ter) single nucleotide variant Likely pathogenic rs1057518802 21:46929468-46929468 21:45509554-45509554
7 WRN NM_000553.5(WRN): c.724+1G> T single nucleotide variant Likely pathogenic rs1339616347 8:30925844-30925844 8:31068328-31068328
8 COL5A1 NM_000093.4(COL5A1): c.608G> T (p.Gly203Val) single nucleotide variant Likely pathogenic rs1554781700 9:137593133-137593133 9:134701287-134701287
9 EPM2A NM_005670.4(EPM2A): c.376A> G (p.Ile126Val) single nucleotide variant Conflicting interpretations of pathogenicity rs150452237 6:146007358-146007358 6:145686222-145686222
10 PITX2 NM_153427.2(PITX2): c.480A> T (p.Ser160=) single nucleotide variant Conflicting interpretations of pathogenicity rs141176394 4:111539617-111539617 4:110618461-110618461
11 HSF4 NM_001040667.3(HSF4): c.1476C> A (p.Pro492=) single nucleotide variant Conflicting interpretations of pathogenicity rs367756178 16:67203685-67203685 16:67169782-67169782
12 HSF4 NM_001040667.3(HSF4): c.741G> A (p.Glu247=) single nucleotide variant Uncertain significance rs373435397 16:67201389-67201389 16:67167486-67167486
13 HSF4 NM_001040667.3(HSF4): c.259G> A (p.Glu87Lys) single nucleotide variant Uncertain significance rs367654370 16:67199648-67199648 16:67165745-67165745
14 HSF4 NM_001040667.3(HSF4): c.394C> T (p.Arg132Cys) single nucleotide variant Uncertain significance rs769736356 16:67199882-67199882 16:67165979-67165979
15 HSF4 NM_001040667.3(HSF4): c.594G> T (p.Ala198=) single nucleotide variant Uncertain significance rs763541172 16:67200493-67200493 16:67166590-67166590
16 HSF4 NM_001040667.3(HSF4): c.1127T> C (p.Leu376Pro) single nucleotide variant Uncertain significance rs373962350 16:67202778-67202778 16:67168875-67168875
17 HSF4 NM_001040667.3(HSF4): c.*30del deletion Uncertain significance rs756298250 16:67203718-67203718 16:67169815-67169815
18 HSF4 NM_001538.3(HSF4): c.*158_*159dupTT duplication Uncertain significance rs3215366 16:67203835-67203836 16:67169932-67169933
19 XDH NM_000379.4(XDH): c.1172C> T (p.Pro391Leu) single nucleotide variant Uncertain significance 2:31602803-31602803 2:31379937-31379937
20 MIP NM_012064.4(MIP): c.*1237_*1238dup duplication Uncertain significance rs111463603 12:56843826-56843827 12:56450042-56450043
21 MIP NM_012064.4(MIP): c.*601G> A single nucleotide variant Uncertain significance rs565229690 12:56844463-56844463 12:56450679-56450679
22 MIP NM_012064.4(MIP): c.*132del deletion Uncertain significance rs886049691 12:56844932-56844932 12:56451148-56451148
23 MIP NM_012064.4(MIP): c.493G> A (p.Gly165Ser) single nucleotide variant Uncertain significance rs886049692 12:56847407-56847407 12:56453623-56453623
24 MIP NM_012064.4(MIP): c.361-10C> T single nucleotide variant Uncertain significance rs886049693 12:56847549-56847549 12:56453765-56453765
25 MIP NM_012064.4(MIP): c.98G> A (p.Arg33His) single nucleotide variant Uncertain significance rs139963297 12:56848300-56848300 12:56454516-56454516
26 HSF4 NM_001538.3(HSF4): c.-759A> G single nucleotide variant Uncertain significance rs777343855 16:67197494-67197494 16:67163591-67163591
27 HSF4 NM_001040667.3(HSF4): c.-191C> G single nucleotide variant Uncertain significance rs769427775 16:67198524-67198524 16:67164621-67164621
28 HSF4 NM_001040667.3(HSF4): c.1137G> A (p.Pro379=) single nucleotide variant Uncertain significance rs369862977 16:67202788-67202788 16:67168885-67168885
29 MIP NM_012064.4(MIP): c.*148dup duplication Uncertain significance rs35639464 12:56844916-56844916 12:56451132-56451132
30 MIP NM_012064.4(MIP): c.*1103C> T single nucleotide variant Uncertain significance rs886049689 12:56843961-56843961 12:56450177-56450177
31 MIP NM_012064.4(MIP): c.*342C> T single nucleotide variant Uncertain significance rs886049690 12:56844722-56844722 12:56450938-56450938
32 HSF4 NM_001040667.3(HSF4): c.-354C> A single nucleotide variant Uncertain significance rs886052214 16:67198361-67198361 16:67164458-67164458
33 HSF4 NM_001040667.3(HSF4): c.-186C> T single nucleotide variant Uncertain significance rs772601480 16:67198529-67198529 16:67164626-67164626
34 HSF4 NM_001040667.3(HSF4): c.-23C> T single nucleotide variant Uncertain significance rs760188385 16:67198692-67198692 16:67164789-67164789
35 HSF4 NM_001040667.3(HSF4): c.32A> G (p.Glu11Gly) single nucleotide variant Uncertain significance rs886052215 16:67198746-67198746 16:67164843-67164843
36 HSF4 NM_001040667.3(HSF4): c.1075C> A (p.Pro359Thr) single nucleotide variant Uncertain significance rs886052216 16:67201843-67201843 16:67167940-67167940
37 HSF4 NM_001040667.3(HSF4): c.-565G> A single nucleotide variant Uncertain significance rs147591659 16:67197688-67197688 16:67163785-67163785
38 HSF4 NM_001040667.3(HSF4): c.-448A> G single nucleotide variant Uncertain significance rs886052213 16:67197971-67197971 16:67164068-67164068
39 HSF4 NM_001040667.3(HSF4): c.203T> C (p.Met68Thr) single nucleotide variant Uncertain significance rs751405773 16:67199504-67199504 16:67165601-67165601
40 HSF4 NM_001040667.3(HSF4): c.523C> G (p.Arg175Gly) single nucleotide variant Uncertain significance rs377009893 16:67200260-67200260 16:67166357-67166357
41 UPF3B NM_080632.2(UPF3B): c.758T> C (p.Ile253Thr) single nucleotide variant Uncertain significance rs754982440 X:118975088-118975088 X:119841125-119841125
42 CRYGD NM_006891.4(CRYGD): c.295A> G (p.Arg99Gly) single nucleotide variant Uncertain significance rs886055527 2:208986627-208986627 2:208121903-208121903
43 CRYGD NM_006891.4(CRYGD): c.482A> G (p.Asn161Ser) single nucleotide variant Uncertain significance rs760434926 2:208986440-208986440 2:208121716-208121716
44 CRYGD NM_006891.3(CRYGD): c.-80A> C single nucleotide variant Uncertain significance rs886055528 2:208989277-208989277 2:208124553-208124553
45 XDH NM_000379.4(XDH): c.3647C> A (p.Pro1216His) single nucleotide variant Uncertain significance rs143981573 2:31562482-31562482 2:31339616-31339616
46 MMAA NM_172250.3(MMAA): c.304G> A (p.Ala102Thr) single nucleotide variant Uncertain significance rs1328584680 4:146560595-146560595 4:145639443-145639443
47 EPM2A NM_005670.4(EPM2A): c.*1691G> A single nucleotide variant Uncertain significance rs750320097 6:145946861-145946861 6:145625725-145625725
48 TALDO1 NM_006755.2(TALDO1): c.328A> G (p.Arg110Gly) single nucleotide variant Uncertain significance rs766745943 11:759056-759056 11:759056-759056
49 BFSP2 NM_003571.4(BFSP2): c.422A> C (p.Glu141Ala) single nucleotide variant Uncertain significance rs886058009 3:133119349-133119349 3:133400505-133400505
50 BFSP2 NM_003571.4(BFSP2): c.722A> G (p.Tyr241Cys) single nucleotide variant Uncertain significance rs886058012 3:133167482-133167482 3:133448638-133448638

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
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
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73 UMLS via Orphanet
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