CTRCT18
MCID: CTR181
MIFTS: 24

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 58 12 76 15
Cataract, Autosomal Recessive Congenital 2 58 54 30 13 6 74
Catc2 58 12 54 76
Ctrct18 58 12 76
Autosomal Recessive Congenital Cataract 2 12 76
Cataract, Autosomal Recessive Congenital 2; Catc2 58
Cataract 18, Autosomal Recessive 58
Cataract 18 Autosomal Recessive 12
Cataract, Type 18 ) 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
cataract 18:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110238
OMIM 58 610019
MeSH 45 D002386
ICD10 34 Q12.0
MedGen 43 C1864908
UMLS 74 C1864908

Summaries for Cataract 18

UniProtKB/Swiss-Prot : 76 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 9, multiple types and melanoma, cutaneous malignant 1. An important gene associated with Cataract 18 is FYCO1 (FYVE And Coiled-Coil Domain Containing 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 : 58 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:

33
# Description HPO Frequency HPO Source Accession
1 cataract 33 HP:0000518

Symptoms via clinical synopsis from OMIM:

58
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 30 FYCO1

Anatomical Context for Cataract 18

MalaCards organs/tissues related to Cataract 18:

42
Eye

Publications for Cataract 18

Articles related to Cataract 18:

# Title Authors Year
1
Mutations in FYCO1 cause autosomal-recessive congenital cataracts. ( 21636066 )
2011
2
A gene causing autosomal recessive cataract maps to the short arm of chromosome 3. ( 11519376 )
2001

Variations for Cataract 18

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

76
# Symbol AA change Variation ID SNP ID
1 FYCO1 p.Leu1376Pro VAR_065974 rs387906965

ClinVar genetic disease variations for Cataract 18:

6 (show top 50) (show all 72)
# Gene Variation Type Significance SNP ID Assembly Location
1 FYCO1 NM_024513.3(FYCO1): c.1045C> T (p.Gln349Ter) single nucleotide variant Pathogenic rs387906963 GRCh37 Chromosome 3, 46009781: 46009781
2 FYCO1 NM_024513.3(FYCO1): c.1045C> T (p.Gln349Ter) single nucleotide variant Pathogenic rs387906963 GRCh38 Chromosome 3, 45968289: 45968289
3 FYCO1 NM_024513.3(FYCO1): c.2206C> T (p.Gln736Ter) single nucleotide variant Pathogenic rs387906964 GRCh37 Chromosome 3, 46008620: 46008620
4 FYCO1 NM_024513.3(FYCO1): c.2206C> T (p.Gln736Ter) single nucleotide variant Pathogenic rs387906964 GRCh38 Chromosome 3, 45967128: 45967128
5 FYCO1 FYCO1, IVS9DS, G-T, +1 single nucleotide variant Pathogenic
6 FYCO1 FYCO1, 5-BP DUP, 3858GGAAT duplication Pathogenic
7 FYCO1 NM_024513.3(FYCO1): c.4127T> C (p.Leu1376Pro) single nucleotide variant Pathogenic rs387906965 GRCh37 Chromosome 3, 45972687: 45972687
8 FYCO1 NM_024513.3(FYCO1): c.4127T> C (p.Leu1376Pro) single nucleotide variant Pathogenic rs387906965 GRCh38 Chromosome 3, 45931195: 45931195
9 FYCO1 NM_024513.3(FYCO1): c.1546C> T (p.Gln516Ter) single nucleotide variant Pathogenic rs387906966 GRCh37 Chromosome 3, 46009280: 46009280
10 FYCO1 NM_024513.3(FYCO1): c.1546C> T (p.Gln516Ter) single nucleotide variant Pathogenic rs387906966 GRCh38 Chromosome 3, 45967788: 45967788
11 FYCO1 NM_024513.3(FYCO1): c.4086G> A (p.Glu1362=) single nucleotide variant Benign/Likely benign rs137986696 GRCh37 Chromosome 3, 45972728: 45972728
12 FYCO1 NM_024513.3(FYCO1): c.4086G> A (p.Glu1362=) single nucleotide variant Benign/Likely benign rs137986696 GRCh38 Chromosome 3, 45931236: 45931236
13 FYCO1 NM_024513.3(FYCO1): c.3419G> A (p.Arg1140Gln) single nucleotide variant Benign/Likely benign rs41289620 GRCh37 Chromosome 3, 46003735: 46003735
14 FYCO1 NM_024513.3(FYCO1): c.3419G> A (p.Arg1140Gln) single nucleotide variant Benign/Likely benign rs41289620 GRCh38 Chromosome 3, 45962243: 45962243
15 FYCO1 NM_024513.3(FYCO1): c.2980G> A (p.Glu994Lys) single nucleotide variant Benign/Likely benign rs34801630 GRCh38 Chromosome 3, 45966354: 45966354
16 FYCO1 NM_024513.3(FYCO1): c.2980G> A (p.Glu994Lys) single nucleotide variant Benign/Likely benign rs34801630 GRCh37 Chromosome 3, 46007846: 46007846
17 FYCO1 NM_024513.3(FYCO1): c.1843C> T (p.Arg615Trp) single nucleotide variant Benign/Likely benign rs149507450 GRCh37 Chromosome 3, 46008983: 46008983
18 FYCO1 NM_024513.3(FYCO1): c.1843C> T (p.Arg615Trp) single nucleotide variant Benign/Likely benign rs149507450 GRCh38 Chromosome 3, 45967491: 45967491
19 FYCO1 NM_024513.3(FYCO1): c.1206G> A (p.Glu402=) single nucleotide variant Benign rs34147726 GRCh38 Chromosome 3, 45968128: 45968128
20 FYCO1 NM_024513.3(FYCO1): c.1206G> A (p.Glu402=) single nucleotide variant Benign rs34147726 GRCh37 Chromosome 3, 46009620: 46009620
21 FYCO1 NM_024513.3(FYCO1): c.4319C> T (p.Thr1440Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs41289612 GRCh38 Chromosome 3, 45923698: 45923698
22 FYCO1 NM_024513.3(FYCO1): c.4319C> T (p.Thr1440Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs41289612 GRCh37 Chromosome 3, 45965190: 45965190
23 FYCO1 NM_024513.3(FYCO1): c.2179C> A (p.His727Asn) single nucleotide variant Benign/Likely benign rs36014492 GRCh38 Chromosome 3, 45967155: 45967155
24 FYCO1 NM_024513.3(FYCO1): c.2179C> A (p.His727Asn) single nucleotide variant Benign/Likely benign rs36014492 GRCh37 Chromosome 3, 46008647: 46008647
25 FYCO1 NM_024513.3(FYCO1): c.3789A> G (p.Thr1263=) single nucleotide variant Benign/Likely benign rs41289618 GRCh38 Chromosome 3, 45958418: 45958418
26 FYCO1 NM_024513.3(FYCO1): c.3789A> G (p.Thr1263=) single nucleotide variant Benign/Likely benign rs41289618 GRCh37 Chromosome 3, 45999910: 45999910
27 FYCO1 NM_024513.3(FYCO1): c.1474C> T (p.Arg492Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs143704916 GRCh38 Chromosome 3, 45967860: 45967860
28 FYCO1 NM_024513.3(FYCO1): c.1474C> T (p.Arg492Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs143704916 GRCh37 Chromosome 3, 46009352: 46009352
29 FYCO1 NM_024513.3(FYCO1): c.753G> T (p.Glu251Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs3821885 GRCh38 Chromosome 3, 45968581: 45968581
30 FYCO1 NM_024513.3(FYCO1): c.753G> T (p.Glu251Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs3821885 GRCh37 Chromosome 3, 46010073: 46010073
31 FYCO1 NM_024513.3(FYCO1): c.713A> C (p.Glu238Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs117543659 GRCh38 Chromosome 3, 45968621: 45968621
32 FYCO1 NM_024513.3(FYCO1): c.713A> C (p.Glu238Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs117543659 GRCh37 Chromosome 3, 46010113: 46010113
33 FYCO1 NM_024513.3(FYCO1): c.3825G> A (p.Pro1275=) single nucleotide variant Conflicting interpretations of pathogenicity rs748985200 GRCh38 Chromosome 3, 45955368: 45955368
34 FYCO1 NM_024513.3(FYCO1): c.3825G> A (p.Pro1275=) single nucleotide variant Conflicting interpretations of pathogenicity rs748985200 GRCh37 Chromosome 3, 45996860: 45996860
35 FYCO1 NM_024513.3(FYCO1): c.845G> A (p.Arg282His) single nucleotide variant Benign/Likely benign rs9875356 GRCh38 Chromosome 3, 45968489: 45968489
36 FYCO1 NM_024513.3(FYCO1): c.845G> A (p.Arg282His) single nucleotide variant Benign/Likely benign rs9875356 GRCh37 Chromosome 3, 46009981: 46009981
37 FYCO1 NM_024513.3(FYCO1): c.4271G> A (p.Arg1424Gln) single nucleotide variant Pathogenic rs140159323 GRCh37 Chromosome 3, 45965238: 45965238
38 FYCO1 NM_024513.3(FYCO1): c.4271G> A (p.Arg1424Gln) single nucleotide variant Pathogenic rs140159323 GRCh38 Chromosome 3, 45923746: 45923746
39 FYCO1 NM_024513.3(FYCO1): c.3327_3328delCT (p.Cys1110Profs) deletion Pathogenic rs747093432 GRCh37 Chromosome 3, 46003826: 46003827
40 FYCO1 NM_024513.3(FYCO1): c.3327_3328delCT (p.Cys1110Profs) deletion Pathogenic rs747093432 GRCh38 Chromosome 3, 45962334: 45962335
41 FYCO1 NM_024513.3(FYCO1): c.4146C> T (p.Ala1382=) single nucleotide variant Benign rs34068905 GRCh38 Chromosome 3, 45931176: 45931176
42 FYCO1 NM_024513.3(FYCO1): c.4146C> T (p.Ala1382=) single nucleotide variant Benign rs34068905 GRCh37 Chromosome 3, 45972668: 45972668
43 FYCO1 NM_024513.3(FYCO1): c.2844G> A (p.Glu948=) single nucleotide variant Likely benign rs182162227 GRCh38 Chromosome 3, 45966490: 45966490
44 FYCO1 NM_024513.3(FYCO1): c.2844G> A (p.Glu948=) single nucleotide variant Likely benign rs182162227 GRCh37 Chromosome 3, 46007982: 46007982
45 FYCO1 NM_024513.3(FYCO1): c.1439C> T (p.Thr480Met) single nucleotide variant Benign rs146711260 GRCh38 Chromosome 3, 45967895: 45967895
46 FYCO1 NM_024513.3(FYCO1): c.1439C> T (p.Thr480Met) single nucleotide variant Benign rs146711260 GRCh37 Chromosome 3, 46009387: 46009387
47 FYCO1 NM_024513.3(FYCO1): c.280A> G (p.Ile94Val) single nucleotide variant Uncertain significance rs755356775 GRCh38 Chromosome 3, 45979713: 45979713
48 FYCO1 NM_024513.3(FYCO1): c.280A> G (p.Ile94Val) single nucleotide variant Uncertain significance rs755356775 GRCh37 Chromosome 3, 46021205: 46021205
49 FYCO1 NM_024513.3(FYCO1): c.4265C> T (p.Thr1422Met) single nucleotide variant Benign rs35678722 GRCh38 Chromosome 3, 45923752: 45923752
50 FYCO1 NM_024513.3(FYCO1): c.4265C> T (p.Thr1422Met) single nucleotide variant Benign rs35678722 GRCh37 Chromosome 3, 45965244: 45965244

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
20 FMA
29 GO
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31 HGMD
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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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