CTRCT18
MCID: CTR181
MIFTS: 28

Cataract 18 (CTRCT18)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Oral diseases, Rare diseases

Aliases & Classifications for Cataract 18

MalaCards integrated aliases for Cataract 18:

Name: Cataract 18 56 12 73 15
Cataract, Autosomal Recessive Congenital 2 56 52 29 13 6 71
Catc2 56 12 52 73
Ctrct18 56 12 73
Autosomal Recessive Congenital Cataract 2 12 73
Cataract, Autosomal Recessive Congenital 2; Catc2 56
Cataract 18, Autosomal Recessive 56
Cataract 18 Autosomal Recessive 12
Cataract, Type 18 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
cataract 18:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110238
OMIM 56 610019
OMIM Phenotypic Series 56 PS116200
MeSH 43 D002386
ICD10 32 Q12.0
MedGen 41 C1864908
UMLS 71 C1864908

Summaries for Cataract 18

UniProtKB/Swiss-Prot : 73 Cataract 18: An opacification of the crystalline lens of the eye becoming evident at birth or in infancy. It frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function.

MalaCards based summary : Cataract 18, also known as cataract, autosomal recessive congenital 2, is related to albinism, oculocutaneous, type ii. An important gene associated with Cataract 18 is FYCO1 (FYVE And Coiled-Coil Domain Autophagy Adaptor 1). Affiliated tissues include eye, and related phenotype is cataract.

Disease Ontology : 12 A cataract that has material basis in homozygous mutation in the FYCO1 gene on chromosome 3p21.3.

OMIM : 56 Mutations in the FYCO1 gene have been identified in families with autosomal recessive cataract described as congenital and congenital nuclear. The preferred title/symbol of this entry was formerly 'Cataract, Autosomal Recessive Congenital 2; CATC2.' (610019)

Related Diseases for Cataract 18

Symptoms & Phenotypes for Cataract 18

Human phenotypes related to Cataract 18:

31
# Description HPO Frequency HPO Source Accession
1 cataract 31 HP:0000518

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
cataracts, bilateral nuclear, present at birth or developing in infancy

Clinical features from OMIM:

610019

Drugs & Therapeutics for Cataract 18

Search Clinical Trials , NIH Clinical Center for Cataract 18

Genetic Tests for Cataract 18

Genetic tests related to Cataract 18:

# Genetic test Affiliating Genes
1 Cataract, Autosomal Recessive Congenital 2 29

Anatomical Context for Cataract 18

MalaCards organs/tissues related to Cataract 18:

40
Eye

Publications for Cataract 18

Articles related to Cataract 18:

(show all 19)
# Title Authors PMID Year
1
Mutations in FYCO1 cause autosomal-recessive congenital cataracts. 56 6
21636066 2011
2
A gene causing autosomal recessive cataract maps to the short arm of chromosome 3. 56 6
11519376 2001
3
A nonsense mutation (W9X) in CRYAA causes autosomal recessive cataract in an inbred Jewish Persian family. 56
11006246 2000
4
Ocular manifestations in Gorlin-Goltz syndrome. 61
31533758 2019
5
Congenital rubella syndrome at tertiary care hospital in North India: Results from a retrospective assessment. 61
31158287 2019
6
Outcome of paediatric cataract surgery in Northwest Ethiopia: a retrospective case series. 61
29669781 2019
7
Utility of Ultraportable Echocardiography in the Preoperative Evaluation of Noncardiac Surgery. 61
27982268 2016
8
Rapid assessment of avoidable blindness in two northern provinces of Burundi without eye services. 61
22775276 2012
9
Prognostic factors and visual outcome for fireworks-related burns during spring festival in South China. 61
21959209 2012
10
Treatment of intractable posterior uveitis in pediatric patients with the fluocinolone acetonide intravitreal implant (Retisert). 61
21963487 2012
11
Cataract in chronic cluster headache: two case reports and review of the literature. 61
18716712 2008
12
Leukocoria in children. 61
18524199 2008
13
Incidence of ocular pathologies in Italian children with Down syndrome. 61
17932861 2007
14
[Development and evaluation of the scale of quality of life for children with bilateral congenital cataract]. 61
17605907 2007
15
Effect of beta radiation on success of glaucoma drainage surgery in South Africa: randomised controlled trial. 61
17023435 2006
16
Wavefront analysis in eyes with nuclear or cortical cataract. 61
12095801 2002
17
[Ocular complications in diabetes mellitus in Zaire]. 61
7496566 1995
18
[In vivo autofluorescence. Measurements of human crystalline lenses with cataract and normal findings after excitation with monochromatic light]. 61
1304199 1992
19
Long-term results of vitrectomy and silicone oil in 500 cases of complicated retinal detachments. 61
3688104 1987

Variations for Cataract 18

ClinVar genetic disease variations for Cataract 18:

6 (show all 31) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FYCO1 NM_024513.4(FYCO1):c.1045C>T (p.Gln349Ter)SNV Pathogenic 30645 rs387906963 3:46009781-46009781 3:45968289-45968289
2 FYCO1 NM_024513.4(FYCO1):c.2206C>T (p.Gln736Ter)SNV Pathogenic 30646 rs387906964 3:46008620-46008620 3:45967128-45967128
3 FYCO1 FYCO1, IVS9DS, G-T, +1SNV Pathogenic 30647
4 FYCO1 NM_024513.4(FYCO1):c.3858_3862dup (p.Leu1288fs)duplication Pathogenic 30648 3:45996822-45996823 3:45955330-45955331
5 FYCO1 NM_024513.4(FYCO1):c.4127T>C (p.Leu1376Pro)SNV Pathogenic 30649 rs387906965 3:45972687-45972687 3:45931195-45931195
6 FYCO1 NM_024513.4(FYCO1):c.1546C>T (p.Gln516Ter)SNV Pathogenic 30650 rs387906966 3:46009280-46009280 3:45967788-45967788
7 FYCO1 NM_024513.4(FYCO1):c.4271G>A (p.Arg1424Gln)SNV Pathogenic 430961 rs140159323 3:45965238-45965238 3:45923746-45923746
8 FYCO1 NM_024513.4(FYCO1):c.3325_3326CT[1] (p.Cys1110fs)short repeat Pathogenic 430962 rs747093432 3:46003826-46003827 3:45962334-45962335
9 FYCO1 NM_024513.4(FYCO1):c.2505del (p.Ala836fs)deletion Pathogenic 660217 3:46008321-46008321 3:45966829-45966829
10 FYCO1 NM_024513.4(FYCO1):c.1621C>T (p.Gln541Ter)SNV Likely pathogenic 693984 3:46009205-46009205 3:45967713-45967713
11 FYCO1 NM_024513.4(FYCO1):c.713A>C (p.Glu238Ala)SNV Conflicting interpretations of pathogenicity 345539 rs117543659 3:46010113-46010113 3:45968621-45968621
12 FYCO1 NM_024513.4(FYCO1):c.3825G>A (p.Pro1275=)SNV Conflicting interpretations of pathogenicity 345500 rs748985200 3:45996860-45996860 3:45955368-45955368
13 FYCO1 NM_024513.4(FYCO1):c.1628_1629del (p.Lys543fs)deletion Uncertain significance 345521 rs766571780 3:46009197-46009198 3:45967705-45967706
14 FYCO1 NM_024513.4(FYCO1):c.280A>G (p.Ile94Val)SNV Uncertain significance 468443 rs755356775 3:46021205-46021205 3:45979713-45979713
15 FYCO1 NM_024513.4(FYCO1):c.2690A>G (p.Gln897Arg)SNV Uncertain significance 468442 rs751793566 3:46008136-46008136 3:45966644-45966644
16 FYCO1 NM_024513.4(FYCO1):c.241G>A (p.Val81Met)SNV Uncertain significance 468441 rs1167055520 3:46021244-46021244 3:45979752-45979752
17 FYCO1 NM_024513.4(FYCO1):c.1537C>T (p.Arg513Trp)SNV Uncertain significance 650207 3:46009289-46009289 3:45967797-45967797
18 FYCO1 NM_024513.4(FYCO1):c.854C>T (p.Ala285Val)SNV Uncertain significance 661507 3:46009972-46009972 3:45968480-45968480
19 FYCO1 NM_024513.4(FYCO1):c.457C>G (p.Gln153Glu)SNV Uncertain significance 648973 3:46014662-46014662 3:45973170-45973170
20 FYCO1 NM_024513.4(FYCO1):c.2857G>T (p.Gly953Trp)SNV Uncertain significance 468445 rs150498691 3:46007969-46007969 3:45966477-45966477
21 FYCO1 NM_024513.4(FYCO1):c.632C>T (p.Thr211Ile)SNV Uncertain significance 468450 rs150218695 3:46010194-46010194 3:45968702-45968702
22 FYCO1 NM_024513.4(FYCO1):c.1852A>G (p.Asn618Asp)SNV Uncertain significance 536345 rs745338967 3:46008974-46008974 3:45967482-45967482
23 FYCO1 NM_024513.4(FYCO1):c.1252G>A (p.Glu418Lys)SNV Uncertain significance 536344 rs72889997 3:46009574-46009574 3:45968082-45968082
24 FYCO1 NM_024513.4(FYCO1):c.4292A>G (p.Asn1431Ser)SNV Uncertain significance 655448 3:45965217-45965217 3:45923725-45923725
25 FYCO1 NM_024513.4(FYCO1):c.1659C>T (p.Leu553=)SNV Likely benign 536346 rs746026639 3:46009167-46009167 3:45967675-45967675
26 FYCO1 NM_024513.4(FYCO1):c.4254C>A (p.Val1418=)SNV Likely benign 468448 rs1553620269 3:45965255-45965255 3:45923763-45923763
27 FYCO1 NM_024513.4(FYCO1):c.3789A>G (p.Thr1263=)SNV Benign/Likely benign 345501 rs41289618 3:45999910-45999910 3:45958418-45958418
28 FYCO1 NM_024513.4(FYCO1):c.3419G>A (p.Arg1140Gln)SNV Benign/Likely benign 261731 rs41289620 3:46003735-46003735 3:45962243-45962243
29 FYCO1 NM_024513.4(FYCO1):c.2980G>A (p.Glu994Lys)SNV Benign/Likely benign 261726 rs34801630 3:46007846-46007846 3:45966354-45966354
30 FYCO1 NM_024513.4(FYCO1):c.1843C>T (p.Arg615Trp)SNV Benign/Likely benign 261721 rs149507450 3:46008983-46008983 3:45967491-45967491
31 FYCO1 NM_024513.4(FYCO1):c.1206G>A (p.Glu402=)SNV Benign 261718 rs34147726 3:46009620-46009620 3:45968128-45968128

UniProtKB/Swiss-Prot genetic disease variations for Cataract 18:

73
# Symbol AA change Variation ID SNP ID
1 FYCO1 p.Leu1376Pro VAR_065974 rs387906965

Expression for Cataract 18

Search GEO for disease gene expression data for Cataract 18.

Pathways for Cataract 18

GO Terms for Cataract 18

Sources for Cataract 18

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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