MCID: CTR116
MIFTS: 20

Cataract 15, Multiple Types

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

Aliases & Classifications for Cataract 15, Multiple Types

MalaCards integrated aliases for Cataract 15, Multiple Types:

Name: Cataract 15, Multiple Types 57 75 29 6 73
Ctrct15 57 12 75
Cataract, Type 15, Multiple Types 40
Cataract 15 Multiple Types 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
congenital cataract


HPO:

32
cataract 15, multiple types:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 615274
Disease Ontology 12 DOID:0110251
ICD10 33 Q12.0
MeSH 44 D002386
UMLS 73 C3809001

Summaries for Cataract 15, Multiple Types

UniProtKB/Swiss-Prot : 75 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 phenotype is cataract.

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)

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

Symptoms & Phenotypes for Cataract 15, Multiple Types

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
cataract, congenital
embryonal nuclear cataract with radiating, vacuolar, or dense opacities
pulverulent cortical cataract
cortical cataract
asymmetric anterior and posterior opacification
more

Clinical features from OMIM:

615274

Human phenotypes related to Cataract 15, Multiple Types:

32
# Description HPO Frequency HPO Source Accession
1 cataract 32 HP:0000518

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

Variations for Cataract 15, Multiple Types

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

75
# 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
8 MIP p.Gly165Asp VAR_075529

ClinVar genetic disease variations for Cataract 15, Multiple Types:

6
(show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 MIP NM_012064.3(MIP): c.413C> G (p.Thr138Arg) single nucleotide variant Pathogenic rs121917867 GRCh37 Chromosome 12, 56847487: 56847487
2 MIP NM_012064.3(MIP): c.413C> G (p.Thr138Arg) single nucleotide variant Pathogenic rs121917867 GRCh38 Chromosome 12, 56453703: 56453703
3 MIP NM_012064.3(MIP): c.401A> G (p.Glu134Gly) single nucleotide variant Pathogenic rs121917869 GRCh37 Chromosome 12, 56847499: 56847499
4 MIP NM_012064.3(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_012064.3(MIP): c.319G> A (p.Val107Ile) single nucleotide variant Benign/Likely benign rs74641138 GRCh38 Chromosome 12, 56454295: 56454295
8 MIP NM_012064.3(MIP): c.319G> A (p.Val107Ile) single nucleotide variant Benign/Likely benign rs74641138 GRCh37 Chromosome 12, 56848079: 56848079
9 MIP NM_012064.3(MIP): c.508dupC (p.Leu170Profs) duplication Pathogenic rs1057519616 GRCh38 Chromosome 12, 56453608: 56453608
10 MIP NM_012064.3(MIP): c.508dupC (p.Leu170Profs) duplication Pathogenic rs1057519616 GRCh37 Chromosome 12, 56847392: 56847392
11 MIP NM_012064.3(MIP): c.516C> T (p.His172=) single nucleotide variant Benign rs36032520 GRCh38 Chromosome 12, 56453600: 56453600
12 MIP NM_012064.3(MIP): c.516C> T (p.His172=) single nucleotide variant Benign rs36032520 GRCh37 Chromosome 12, 56847384: 56847384
13 MIP NM_012064.3(MIP): c.323C> T (p.Thr108Ile) single nucleotide variant Uncertain significance rs760722691 GRCh37 Chromosome 12, 56848075: 56848075
14 MIP NM_012064.3(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 GRCh37 Chromosome 12, 56845233: 56845233
16 MIP NM_012064.3(MIP): c.623delC (p.Pro208Glnfs) deletion Pathogenic GRCh38 Chromosome 12, 56451449: 56451449
17 MIP NM_012064.3(MIP): c.560G> T (p.Arg187Leu) single nucleotide variant Uncertain significance rs759746926 GRCh38 Chromosome 12, 56453118: 56453118
18 MIP NM_012064.3(MIP): c.560G> T (p.Arg187Leu) single nucleotide variant Uncertain significance rs759746926 GRCh37 Chromosome 12, 56846902: 56846902

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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