CTRCT15
MCID: CTR116
MIFTS: 23

Cataract 15, Multiple Types (CTRCT15)

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

Aliases & Classifications for Cataract 15, Multiple Types

MalaCards integrated aliases for Cataract 15, Multiple Types:

Name: Cataract 15, Multiple Types 58 76 30 6 74
Ctrct15 58 12 76
Cataract, Type 15, Multiple Types 41
Cataract 15 Multiple Types 12

Characteristics:

OMIM:

58
Miscellaneous:
congenital cataract

Inheritance:
autosomal dominant


HPO:

33
cataract 15, multiple types:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cataract 15, Multiple Types

UniProtKB/Swiss-Prot : 76 Cataract 15, multiple types: An opacification of the crystalline lens of the eye that 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. CTRCT15 includes polymorphic, progressive punctate lamellar, cortical, anterior and posterior polar, nonprogressive lamellar with sutural opacities, embryonic nuclear, and pulverulent cortical, among others.

MalaCards based summary : Cataract 15, Multiple Types, is also known as ctrct15. An important gene associated with Cataract 15, Multiple Types is MIP (Major Intrinsic Protein Of Lens Fiber). Affiliated tissues include eye, and related phenotypes are cataract and nuclear cataract

Disease Ontology : 12 A cataract that has material basis in heterozygous mutation in the MIP gene on chromosome 12q13.

OMIM : 58 Mutations in the MIP gene have been found to cause multiple types of cataract, which have been described as 'polymorphic,' progressive punctate lamellar, cortical, anterior and posterior polar, nonprogressive lamellar with sutural opacities, embryonic nuclear, and pulverulent cortical. (615274)

Symptoms & Phenotypes for Cataract 15, Multiple Types

Human phenotypes related to Cataract 15, Multiple Types:

33
# Description HPO Frequency HPO Source Accession
1 cataract 33 HP:0000518
2 nuclear cataract 33 HP:0100018
3 lamellar cataract 33 HP:0007971
4 cortical cataract 33 HP:0100019
5 developmental cataract 33 HP:0000519

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
cataract, congenital
cortical cataract
embryonal nuclear cataract with radiating, vacuolar, or dense opacities
pulverulent cortical cataract
asymmetric anterior and posterior opacification
more

Clinical features from OMIM:

615274

GenomeRNAi Phenotypes related to Cataract 15, Multiple Types according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased gamma-H2AX phosphorylation GR00053-A 8.62 MIP TIMELESS

Drugs & Therapeutics for Cataract 15, Multiple Types

Search Clinical Trials , NIH Clinical Center for Cataract 15, Multiple Types

Genetic Tests for Cataract 15, Multiple Types

Genetic tests related to Cataract 15, Multiple Types:

# Genetic test Affiliating Genes
1 Cataract 15, Multiple Types 30 MIP

Anatomical Context for Cataract 15, Multiple Types

MalaCards organs/tissues related to Cataract 15, Multiple Types:

42
Eye

Publications for Cataract 15, Multiple Types

Variations for Cataract 15, Multiple Types

UniProtKB/Swiss-Prot genetic disease variations for Cataract 15, Multiple Types:

76
# Symbol AA change Variation ID SNP ID
1 MIP p.Glu134Gly VAR_011497 rs121917869
2 MIP p.Thr138Arg VAR_011498 rs121917867
3 MIP p.Arg33Cys VAR_071601 rs864309693
4 MIP p.Val107Ile VAR_071602 rs74641138
5 MIP p.Arg187Cys VAR_071603 rs267603585
6 MIP p.Arg233Lys VAR_071604
7 MIP p.Asp150His VAR_075528 rs778327521
8 MIP p.Gly165Asp VAR_075529

ClinVar genetic disease variations for Cataract 15, Multiple Types:

6 (show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 MIP NM_012064.4(MIP): c.413C> G (p.Thr138Arg) single nucleotide variant Pathogenic rs121917867 GRCh37 Chromosome 12, 56847487: 56847487
2 MIP NM_012064.4(MIP): c.413C> G (p.Thr138Arg) single nucleotide variant Pathogenic rs121917867 GRCh38 Chromosome 12, 56453703: 56453703
3 MIP NM_012064.4(MIP): c.401A> G (p.Glu134Gly) single nucleotide variant Pathogenic rs121917869 GRCh37 Chromosome 12, 56847499: 56847499
4 MIP NM_012064.4(MIP): c.401A> G (p.Glu134Gly) single nucleotide variant Pathogenic rs121917869 GRCh38 Chromosome 12, 56453715: 56453715
5 MIP NM_012064.3(MIP): c.638delG (p.Gly213Valfs) deletion Likely pathogenic rs398122378 GRCh37 Chromosome 12, 56845218: 56845218
6 MIP NM_012064.3(MIP): c.638delG (p.Gly213Valfs) deletion Likely pathogenic rs398122378 GRCh38 Chromosome 12, 56451434: 56451434
7 MIP NM_012064.4(MIP): c.319G> A (p.Val107Ile) single nucleotide variant Benign/Likely benign rs74641138 GRCh38 Chromosome 12, 56454295: 56454295
8 MIP NM_012064.4(MIP): c.319G> A (p.Val107Ile) single nucleotide variant Benign/Likely benign rs74641138 GRCh37 Chromosome 12, 56848079: 56848079
9 MIP NM_012064.4(MIP): c.508dup (p.Leu170Profs) duplication Pathogenic rs1057519616 GRCh38 Chromosome 12, 56453608: 56453608
10 MIP NM_012064.4(MIP): c.508dup (p.Leu170Profs) duplication Pathogenic rs1057519616 GRCh37 Chromosome 12, 56847392: 56847392
11 MIP NM_012064.4(MIP): c.516C> T (p.His172=) single nucleotide variant Benign rs36032520 GRCh38 Chromosome 12, 56453600: 56453600
12 MIP NM_012064.4(MIP): c.516C> T (p.His172=) single nucleotide variant Benign rs36032520 GRCh37 Chromosome 12, 56847384: 56847384
13 MIP NM_012064.4(MIP): c.323C> T (p.Thr108Ile) single nucleotide variant Uncertain significance rs760722691 GRCh37 Chromosome 12, 56848075: 56848075
14 MIP NM_012064.4(MIP): c.323C> T (p.Thr108Ile) single nucleotide variant Uncertain significance rs760722691 GRCh38 Chromosome 12, 56454291: 56454291
15 MIP NM_012064.3(MIP): c.623delC (p.Pro208Glnfs) deletion Pathogenic rs1555179713 GRCh37 Chromosome 12, 56845233: 56845233
16 MIP NM_012064.3(MIP): c.623delC (p.Pro208Glnfs) deletion Pathogenic rs1555179713 GRCh38 Chromosome 12, 56451449: 56451449
17 MIP NM_012064.4(MIP): c.560G> T (p.Arg187Leu) single nucleotide variant Uncertain significance rs759746926 GRCh38 Chromosome 12, 56453118: 56453118
18 MIP NM_012064.4(MIP): c.560G> T (p.Arg187Leu) single nucleotide variant Uncertain significance rs759746926 GRCh37 Chromosome 12, 56846902: 56846902
19 MIP NM_012064.3(MIP): c.713A> C (p.Lys238Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 56451359: 56451359
20 MIP NM_012064.3(MIP): c.713A> C (p.Lys238Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 56845143: 56845143

Expression for Cataract 15, Multiple Types

Search GEO for disease gene expression data for Cataract 15, Multiple Types.

Pathways for Cataract 15, Multiple Types

GO Terms for Cataract 15, Multiple Types

Sources for Cataract 15, Multiple Types

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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