CTRCT18
MCID: CTR181
MIFTS: 37

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 57 12 72 29 6 15
Cataract, Autosomal Recessive Congenital 2 57 20 13 70
Catc2 57 12 20 72
Ctrct18 57 12 72
Autosomal Recessive Congenital Cataract 2 12 72
Cataract, Autosomal Recessive Congenital 2; Catc2 57
Cataract 18, Autosomal Recessive 57
Cataract 18 Autosomal Recessive 12
Cataract, Type 18 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
cataract 18:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110238
OMIM® 57 610019
OMIM Phenotypic Series 57 PS116200
MeSH 44 D002386
ICD10 32 Q12.0
MedGen 41 C1864908
UMLS 70 C1864908

Summaries for Cataract 18

UniProtKB/Swiss-Prot : 72 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 cataract and acute diarrhea. An important gene associated with Cataract 18 is FYCO1 (FYVE And Coiled-Coil Domain Autophagy Adaptor 1), and among its related pathways/superpathways is Melanin biosynthesis. Affiliated tissues include eye and skin, and related phenotypes are cataract and pigmentation

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

OMIM® : 57 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) (Updated 20-May-2021)

Related Diseases for Cataract 18

Diseases in the Cataract family:

Cataract 32, Multiple Types Cataract 7
Cataract 8, Multiple Types Cataract 4, Multiple Types
Cataract 29 Cataract 42
Cataract 20, Multiple Types Cataract 1, Multiple Types
Cataract 30, Multiple Types Cataract 41
Cataract 6, Multiple Types Cataract 5, Multiple Types
Cataract 40 Cataract 10, Multiple Types
Cataract 24 Cataract 3, Multiple Types
Cataract 14, Multiple Types Cataract 9, Multiple Types
Cataract 2, Multiple Types Cataract 31, Multiple Types
Cataract 25 Cataract 26, Multiple Types
Cataract 27 Cataract 28
Cataract 35 Cataract 22, Multiple Types
Cataract 18 Cataract 21, Multiple Types
Cataract 23, Multiple Types Cataract 11, Multiple Types
Cataract 33, Multiple Types Cataract 17, Multiple Types
Cataract 12, Multiple Types Cataract 47
Cataract 34, Multiple Types Cataract 16, Multiple Types
Cataract 36 Cataract 37
Cataract 38 Cataract 39, Multiple Types
Cataract 15, Multiple Types Cataract 19, Multiple Types
Cataract 43 Cataract 44
Cataract 45 Cataract 48
Cataract 30 Cataract 33
Cataract Congenital Autosomal Dominant Cataract, Total Congenital

Diseases related to Cataract 18 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 23)
# Related Disease Score Top Affiliating Genes
1 cataract 10.0
2 acute diarrhea 9.9 SH2D3A S100A9
3 albinism, oculocutaneous, type v 9.8 TYRP1 OCA2
4 albinism 9.8 TYRP1 OCA2
5 acute contagious conjunctivitis 9.8 TYRP1 OCA2
6 acute conjunctivitis 9.8 TYRP1 OCA2
7 albinism, oculocutaneous, type ib 9.8 TYRP1 OCA2
8 albinism, oculocutaneous, type ia 9.8 TYRP1 OCA2
9 albinism, oculocutaneous, type vii 9.8 TYRP1 OCA2
10 albinism, oculocutaneous, type iv 9.8 TYRP1 OCA2
11 nystagmus 6, congenital, x-linked 9.8 TYRP1 OCA2
12 albinism, oculocutaneous, type ii 9.8 TYRP1 OCA2
13 albinism, oculocutaneous, type iii 9.8 TYRP1 OCA2
14 iris disease 9.8 TYRP1 FBN1
15 piebald trait 9.7 TYRP1 OCA2
16 ocular albinism 9.7 TYRP1 OCA2
17 griscelli syndrome 9.7 TYRP1 OCA2
18 waardenburg's syndrome 9.7 TYRP1 OCA2
19 oculocutaneous albinism 9.7 TYRP1 OCA2
20 pathologic nystagmus 9.6 TYRP1 OCA2
21 melanoma, cutaneous malignant 1 9.5 TYRP1 OCA2
22 skin melanoma 9.5 TYRP1 OCA2 FBN1
23 skin carcinoma 9.3 TYRP1 OCA2 FBN1

Graphical network of the top 20 diseases related to Cataract 18:



Diseases related to 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®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
cataracts, bilateral nuclear, present at birth or developing in infancy

Clinical features from OMIM®:

610019 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Cataract 18:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.8 FBN1 OCA2 TYRP1

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 18 29 FYCO1

Anatomical Context for Cataract 18

MalaCards organs/tissues related to Cataract 18:

40
Eye, Skin

Publications for Cataract 18

Articles related to Cataract 18:

(show all 23)
# Title Authors PMID Year
1
Mutations in FYCO1 cause autosomal-recessive congenital cataracts. 6 57
21636066 2011
2
A gene causing autosomal recessive cataract maps to the short arm of chromosome 3. 57 6
11519376 2001
3
A nonsense mutation (W9X) in CRYAA causes autosomal recessive cataract in an inbred Jewish Persian family. 57
11006246 2000
4
Prevalence and Associated Factors of Drug-Related Problems Among Older People: A Cross-Sectional Study at King Chulalongkorn Memorial Hospital in Bangkok. 61
33184768 2021
5
Autosomal recessive cataract (CTRCT18) in the Yakut population isolate of Eastern Siberia: a novel founder variant in the FYCO1 gene. 61
33767456 2021
6
Ophthalmic manifestations and vision impairment in Lassa fever survivors. 61
33301526 2020
7
Making Blind Children See: Impact of Correcting Moderate and Severe Visual Impairment in Schools for the Blind. 61
32153333 2019
8
Ocular manifestations in Gorlin-Goltz syndrome. 61
31533758 2019
9
Congenital rubella syndrome at tertiary care hospital in North India: Results from a retrospective assessment. 61
31158287 2019
10
Outcome of paediatric cataract surgery in Northwest Ethiopia: a retrospective case series. 61
29669781 2019
11
Utility of Ultraportable Echocardiography in the Preoperative Evaluation of Noncardiac Surgery. 61
27982268 2016
12
Rapid assessment of avoidable blindness in two northern provinces of Burundi without eye services. 61
22775276 2012
13
Prognostic factors and visual outcome for fireworks-related burns during spring festival in South China. 61
21959209 2012
14
Treatment of intractable posterior uveitis in pediatric patients with the fluocinolone acetonide intravitreal implant (Retisert). 61
21963487 2012
15
Cataract in chronic cluster headache: two case reports and review of the literature. 61
18716712 2008
16
Leukocoria in children. 61
18524199 2008
17
Incidence of ocular pathologies in Italian children with Down syndrome. 61
17932861 2007
18
[Development and evaluation of the scale of quality of life for children with bilateral congenital cataract]. 61
17605907 2007
19
Effect of beta radiation on success of glaucoma drainage surgery in South Africa: randomised controlled trial. 61
17023435 2006
20
Wavefront analysis in eyes with nuclear or cortical cataract. 61
12095801 2002
21
[Ocular complications in diabetes mellitus in Zaire]. 61
7496566 1995
22
[In vivo autofluorescence. Measurements of human crystalline lenses with cataract and normal findings after excitation with monochromatic light]. 61
1304199 1992
23
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 top 50) (show all 229)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FYCO1 NM_024513.4(FYCO1):c.1045C>T (p.Gln349Ter) SNV Pathogenic 30645 rs387906963 GRCh37: 3:46009781-46009781
GRCh38: 3:45968289-45968289
2 FYCO1 NM_024513.4(FYCO1):c.2206C>T (p.Gln736Ter) SNV Pathogenic 30646 rs387906964 GRCh37: 3:46008620-46008620
GRCh38: 3:45967128-45967128
3 FYCO1 FYCO1, IVS9DS, G-T, +1 SNV Pathogenic 30647 GRCh37:
GRCh38:
4 FYCO1 NM_024513.4(FYCO1):c.3858_3862dup (p.Leu1288fs) Duplication Pathogenic 30648 rs1240503246 GRCh37: 3:45996822-45996823
GRCh38: 3:45955330-45955331
5 FYCO1 NM_024513.4(FYCO1):c.4127T>C (p.Leu1376Pro) SNV Pathogenic 30649 rs387906965 GRCh37: 3:45972687-45972687
GRCh38: 3:45931195-45931195
6 FYCO1 NM_024513.4(FYCO1):c.1546C>T (p.Gln516Ter) SNV Pathogenic 30650 rs387906966 GRCh37: 3:46009280-46009280
GRCh38: 3:45967788-45967788
7 FYCO1 NM_024513.4(FYCO1):c.3325_3326CT[1] (p.Cys1110fs) Microsatellite Pathogenic 430962 rs747093432 GRCh37: 3:46003826-46003827
GRCh38: 3:45962334-45962335
8 FYCO1 NM_024513.4(FYCO1):c.2505del (p.Ala836fs) Deletion Pathogenic 660217 rs1575369255 GRCh37: 3:46008321-46008321
GRCh38: 3:45966829-45966829
9 FYCO1 NM_024513.4(FYCO1):c.1411C>T (p.Arg471Ter) SNV Pathogenic 982778 GRCh37: 3:46009415-46009415
GRCh38: 3:45967923-45967923
10 FYCO1 NM_024513.4(FYCO1):c.793dup (p.Ala265fs) Duplication Likely pathogenic 982651 GRCh37: 3:46010032-46010033
GRCh38: 3:45968540-45968541
11 FYCO1 NM_024513.4(FYCO1):c.1621C>T (p.Gln541Ter) SNV Likely pathogenic 693984 rs200557771 GRCh37: 3:46009205-46009205
GRCh38: 3:45967713-45967713
12 FYCO1 NM_024513.4(FYCO1):c.3825G>A (p.Pro1275=) SNV Conflicting interpretations of pathogenicity 345500 rs748985200 GRCh37: 3:45996860-45996860
GRCh38: 3:45955368-45955368
13 FYCO1 NM_024513.4(FYCO1):c.4271G>A (p.Arg1424Gln) SNV Conflicting interpretations of pathogenicity 430961 rs140159323 GRCh37: 3:45965238-45965238
GRCh38: 3:45923746-45923746
14 FYCO1 NM_024513.4(FYCO1):c.280A>G (p.Ile94Val) SNV Uncertain significance 468443 rs755356775 GRCh37: 3:46021205-46021205
GRCh38: 3:45979713-45979713
15 FYCO1 NM_024513.4(FYCO1):c.*2286T>C SNV Uncertain significance 345462 rs886058557 GRCh37: 3:45960971-45960971
GRCh38: 3:45919479-45919479
16 FYCO1 NM_024513.4(FYCO1):c.150G>A (p.Glu50=) SNV Uncertain significance 345542 rs886058572 GRCh37: 3:46023074-46023074
GRCh38: 3:45981582-45981582
17 FYCO1 NM_024513.4(FYCO1):c.241G>A (p.Val81Met) SNV Uncertain significance 468441 rs1167055520 GRCh37: 3:46021244-46021244
GRCh38: 3:45979752-45979752
18 FYCO1 NM_024513.4(FYCO1):c.632C>T (p.Thr211Ile) SNV Uncertain significance 468450 rs150218695 GRCh37: 3:46010194-46010194
GRCh38: 3:45968702-45968702
19 FYCO1 NM_024513.4(FYCO1):c.2690A>G (p.Gln897Arg) SNV Uncertain significance 468442 rs751793566 GRCh37: 3:46008136-46008136
GRCh38: 3:45966644-45966644
20 FYCO1 NM_024513.4(FYCO1):c.3993C>T (p.Pro1331=) SNV Uncertain significance 345498 rs752606656 GRCh37: 3:45977987-45977987
GRCh38: 3:45936495-45936495
21 FYCO1 NM_024513.4(FYCO1):c.*1185A>T SNV Uncertain significance 345473 rs538032998 GRCh37: 3:45962072-45962072
GRCh38: 3:45920580-45920580
22 FYCO1 NM_024513.4(FYCO1):c.1464A>T (p.Ala488=) SNV Uncertain significance 345524 rs886058569 GRCh37: 3:46009362-46009362
GRCh38: 3:45967870-45967870
23 FYCO1 NM_024513.4(FYCO1):c.2552G>A (p.Arg851His) SNV Uncertain significance 345509 rs145893350 GRCh37: 3:46008274-46008274
GRCh38: 3:45966782-45966782
24 FYCO1 NM_024513.4(FYCO1):c.4394C>T (p.Thr1465Met) SNV Uncertain significance 345493 rs201764993 GRCh37: 3:45963300-45963300
GRCh38: 3:45921808-45921808
25 FYCO1 NM_024513.4(FYCO1):c.325C>T (p.Arg109Cys) SNV Uncertain significance 345541 rs886058571 GRCh37: 3:46016801-46016801
GRCh38: 3:45975309-45975309
26 FYCO1 NM_024513.4(FYCO1):c.*2757C>A SNV Uncertain significance 345450 rs186073318 GRCh37: 3:45960500-45960500
GRCh38: 3:45919008-45919008
27 FYCO1 NM_024513.4(FYCO1):c.*709C>T SNV Uncertain significance 345479 rs559852330 GRCh37: 3:45962548-45962548
GRCh38: 3:45921056-45921056
28 FYCO1 NM_024513.4(FYCO1):c.1098C>T (p.Ala366=) SNV Uncertain significance 345530 rs201904937 GRCh37: 3:46009728-46009728
GRCh38: 3:45968236-45968236
29 FYCO1 NM_024513.4(FYCO1):c.1144G>A (p.Ala382Thr) SNV Uncertain significance 345527 rs886058570 GRCh37: 3:46009682-46009682
GRCh38: 3:45968190-45968190
30 FYCO1 NM_024513.4(FYCO1):c.748C>T (p.Arg250Trp) SNV Uncertain significance 345538 rs142017802 GRCh37: 3:46010078-46010078
GRCh38: 3:45968586-45968586
31 FYCO1 NM_024513.4(FYCO1):c.*3283G>A SNV Uncertain significance 345442 rs886058551 GRCh37: 3:45959974-45959974
GRCh38: 3:45918482-45918482
32 FYCO1 NM_024513.4(FYCO1):c.457C>G (p.Gln153Glu) SNV Uncertain significance 648973 rs1460800228 GRCh37: 3:46014662-46014662
GRCh38: 3:45973170-45973170
33 FYCO1 NM_024513.4(FYCO1):c.1537C>T (p.Arg513Trp) SNV Uncertain significance 650207 rs141828619 GRCh37: 3:46009289-46009289
GRCh38: 3:45967797-45967797
34 FYCO1 NM_024513.4(FYCO1):c.4292A>G (p.Asn1431Ser) SNV Uncertain significance 655448 rs372021321 GRCh37: 3:45965217-45965217
GRCh38: 3:45923725-45923725
35 FYCO1 NM_024513.4(FYCO1):c.2857G>T (p.Gly953Trp) SNV Uncertain significance 468445 rs150498691 GRCh37: 3:46007969-46007969
GRCh38: 3:45966477-45966477
36 FYCO1 NM_024513.4(FYCO1):c.1252G>A (p.Glu418Lys) SNV Uncertain significance 536344 rs72889997 GRCh37: 3:46009574-46009574
GRCh38: 3:45968082-45968082
37 FYCO1 NM_024513.4(FYCO1):c.1852A>G (p.Asn618Asp) SNV Uncertain significance 536345 rs745338967 GRCh37: 3:46008974-46008974
GRCh38: 3:45967482-45967482
38 FYCO1 NM_024513.4(FYCO1):c.854C>T (p.Ala285Val) SNV Uncertain significance 661507 rs762929660 GRCh37: 3:46009972-46009972
GRCh38: 3:45968480-45968480
39 FYCO1 NM_024513.4(FYCO1):c.*3278G>A SNV Uncertain significance 899964 GRCh37: 3:45959979-45959979
GRCh38: 3:45918487-45918487
40 FYCO1 NM_024513.4(FYCO1):c.*3063G>A SNV Uncertain significance 899965 GRCh37: 3:45960194-45960194
GRCh38: 3:45918702-45918702
41 FYCO1 NM_024513.4(FYCO1):c.*3006G>A SNV Uncertain significance 899966 GRCh37: 3:45960251-45960251
GRCh38: 3:45918759-45918759
42 FYCO1 NM_024513.4(FYCO1):c.*1398G>A SNV Uncertain significance 900039 GRCh37: 3:45961859-45961859
GRCh38: 3:45920367-45920367
43 FYCO1 NM_024513.4(FYCO1):c.*1349T>C SNV Uncertain significance 900040 GRCh37: 3:45961908-45961908
GRCh38: 3:45920416-45920416
44 FYCO1 NM_024513.4(FYCO1):c.*1270T>C SNV Uncertain significance 900041 GRCh37: 3:45961987-45961987
GRCh38: 3:45920495-45920495
45 FYCO1 NM_024513.4(FYCO1):c.*1211C>A SNV Uncertain significance 900042 GRCh37: 3:45962046-45962046
GRCh38: 3:45920554-45920554
46 FYCO1 NM_024513.4(FYCO1):c.*59C>G SNV Uncertain significance 900103 GRCh37: 3:45963198-45963198
GRCh38: 3:45921706-45921706
47 FYCO1 NM_024513.4(FYCO1):c.4251+11G>A SNV Uncertain significance 900104 GRCh37: 3:45972552-45972552
GRCh38: 3:45931060-45931060
48 FYCO1 NM_024513.4(FYCO1):c.3269+10A>T SNV Uncertain significance 900168 GRCh37: 3:46005818-46005818
GRCh38: 3:45964326-45964326
49 FYCO1 NM_024513.4(FYCO1):c.3151-12G>A SNV Uncertain significance 900170 GRCh37: 3:46005958-46005958
GRCh38: 3:45964466-45964466
50 FYCO1 NM_024513.4(FYCO1):c.3047G>A (p.Ser1016Asn) SNV Uncertain significance 900171 GRCh37: 3:46007779-46007779
GRCh38: 3:45966287-45966287

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

72
# 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

Pathways related to Cataract 18 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 9.32 TYRP1 OCA2

GO Terms for Cataract 18

Cellular components related to Cataract 18 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 melanosome membrane GO:0033162 8.62 TYRP1 OCA2

Biological processes related to Cataract 18 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 pigmentation GO:0043473 9.16 TYRP1 OCA2
2 melanocyte differentiation GO:0030318 8.96 TYRP1 OCA2
3 melanin biosynthetic process GO:0042438 8.62 TYRP1 OCA2

Sources for Cataract 18

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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