CTRCT15
MCID: CTR116
MIFTS: 25

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 57 74 29 6 72
Ctrct15 57 12 74
Cataract, Type 15, Multiple Types 40
Cataract 15 Multiple Types 12

Characteristics:

OMIM:

57
Miscellaneous:
congenital cataract

Inheritance:
autosomal dominant


HPO:

32
cataract 15, multiple types:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110251
MeSH 44 D002386
ICD10 33 Q12.0
UMLS 72 C3809001

Summaries for Cataract 15, Multiple Types

UniProtKB/Swiss-Prot : 74 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 : 57 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:

32
# Description HPO Frequency HPO Source Accession
1 cataract 32 HP:0000518
2 nuclear cataract 32 HP:0100018
3 cortical cataract 32 HP:0100019
4 developmental cataract 32 HP:0000519
5 lamellar cataract 32 HP:0007971

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
cortical cataract
cataract, congenital
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:

26
# 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 29 MIP

Anatomical Context for Cataract 15, Multiple Types

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

41
Eye

Publications for Cataract 15, Multiple Types

Articles related to Cataract 15, Multiple Types:

# Title Authors PMID Year
1
Novel single-base deletional mutation in major intrinsic protein (MIP) in autosomal dominant cataract. 8 71
16564824 2006
2
A new locus for autosomal dominant cataract on chromosome 12q13. 8 71
10937580 2000
3
Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12q. 8 71
10802646 2000
4
Genetic linkage analysis of autosomal dominant congenital cataracts. 8 71
3456204 1986

Variations for Cataract 15, Multiple Types

ClinVar genetic disease variations for Cataract 15, Multiple Types:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MIP NM_012064.4(MIP): c.508dup (p.Leu170fs) duplication Pathogenic rs1057519616 12:56847392-56847392 12:56453608-56453608
2 MIP NM_012064.4(MIP): c.623del (p.Pro208fs) deletion Pathogenic rs1555179713 12:56845233-56845233 12:56451449-56451449
3 MIP NM_012064.4(MIP): c.413C> G (p.Thr138Arg) single nucleotide variant Pathogenic rs121917867 12:56847487-56847487 12:56453703-56453703
4 MIP NM_012064.4(MIP): c.401A> G (p.Glu134Gly) single nucleotide variant Pathogenic rs121917869 12:56847499-56847499 12:56453715-56453715
5 MIP NM_012064.4(MIP): c.638del (p.Gly213fs) deletion Likely pathogenic rs398122378 12:56845218-56845218 12:56451434-56451434
6 MIP NM_012064.4(MIP): c.560G> T (p.Arg187Leu) single nucleotide variant Uncertain significance rs759746926 12:56846902-56846902 12:56453118-56453118
7 MIP NM_012064.4(MIP): c.323C> T (p.Thr108Ile) single nucleotide variant Uncertain significance rs760722691 12:56848075-56848075 12:56454291-56454291
8 MIP NM_012064.4(MIP): c.713A> C (p.Lys238Thr) single nucleotide variant Uncertain significance 12:56845143-56845143 12:56451359-56451359
9 MIP NM_012064.4(MIP): c.319G> A (p.Val107Ile) single nucleotide variant Benign/Likely benign rs74641138 12:56848079-56848079 12:56454295-56454295
10 MIP NM_012064.4(MIP): c.516C> T (p.His172=) single nucleotide variant Benign rs36032520 12:56847384-56847384 12:56453600-56453600

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

74
# 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 rs155517969
7 MIP p.Asp150His VAR_075528 rs778327521
8 MIP p.Gly165Asp VAR_075529

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
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....