MCID: CTR113
MIFTS: 27

Cataract 11, Multiple Types

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

Aliases & Classifications for Cataract 11, Multiple Types

MalaCards integrated aliases for Cataract 11, Multiple Types:

Name: Cataract 11, Multiple Types 53 71 13
Cataract, Posterior Polar, 4 53 49 28 69
Ctpp4 53 12 49 71
Cpp4 53 12 49 71
Ctrct11 53 12 71
Cataract 11 with Microphthalmia and Neurodevelopmental Abnormalities 71 28
Cataract 11 Multiple Types 12 14
Cataract, Posterior Polar, 4; Ctpp4 53
Posterior Polar Cataract, 4 49
Posterior Polar Cataract 4 12
Cataract Posterior Polar 4 71
Cataract 11, Syndromic 53
Syndromic Cataract 11 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
cataract 11, multiple types:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 610623
Disease Ontology 12 DOID:0110249
ICD10 32 Q12.0
MedGen 39 C1864567
MeSH 41 D002386
UMLS 69 C1864567

Summaries for Cataract 11, Multiple Types

UniProtKB/Swiss-Prot : 71 Cataract 11, 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. CTRCT11 includes posterior polar cataract, among others. Posterior polar cataract is a subcapsular opacity, usually disk-shaped, located at the back of the lens. Some CTRCT11 patients can present a severe phenotype including microphthalmia and neurological dysfunction.

MalaCards based summary : Cataract 11, Multiple Types, also known as cataract, posterior polar, 4, is related to popliteal pterygium syndrome, lethal type and cataract, and has symptoms including cataract and microphthalmia. An important gene associated with Cataract 11, Multiple Types is PITX3 (Paired Like Homeodomain 3). Affiliated tissues include eye, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

OMIM : 53 Mutations in the PITX3 gene have been found to cause multiple types of cataract, which have been described as congenital total and posterior polar. The preferred title/symbol for this entry was formerly 'Cataract, Posterior Polar, 4; CTPP4.' (610623)

Disease Ontology : 12 A cataract that has material basis in heterozygous mutation in the PITX3 gene on chromosome 10q24.

Related Diseases for Cataract 11, Multiple Types

Symptoms & Phenotypes for Cataract 11, Multiple Types

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
cataract, posterior polar, congenital progressive
anterior segment mesenchymal dysgenesis (in some patients)


Clinical features from OMIM:

610623

Human phenotypes related to Cataract 11, Multiple Types:

31
# Description HPO Frequency HPO Source Accession
1 cataract 31 HP:0000518
2 microphthalmia 31 HP:0000568

GenomeRNAi Phenotypes related to Cataract 11, Multiple Types according to GeneCards Suite gene sharing:

25 (show all 17)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.58 PITX3
2 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.58 PITX3
3 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.58 PITX3
4 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.58 PITX3
5 Increased shRNA abundance (Z-score > 2) GR00366-A-172 9.58 PITX3
6 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.58 PITX3
7 Increased shRNA abundance (Z-score > 2) GR00366-A-215 9.58 PPP1R2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-22 9.58 PITX3
9 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.58 PITX3
10 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.58 PPP1R2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.58 PITX3
12 Increased shRNA abundance (Z-score > 2) GR00366-A-70 9.58 PITX3
13 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.58 PPP1R2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-92 9.58 PITX3
15 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.58 PITX3
16 Increased shRNA abundance (Z-score > 2) GR00366-A-96 9.58 PPP1R2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.58 PITX3 PPP1R2

Drugs & Therapeutics for Cataract 11, Multiple Types

Search Clinical Trials , NIH Clinical Center for Cataract 11, Multiple Types

Genetic Tests for Cataract 11, Multiple Types

Genetic tests related to Cataract 11, Multiple Types:

# Genetic test Affiliating Genes
1 Cataract, Posterior Polar, 4 28 PITX3
2 Cataract 11 with Microphthalmia and Neurodevelopmental Abnormalities 28

Anatomical Context for Cataract 11, Multiple Types

MalaCards organs/tissues related to Cataract 11, Multiple Types:

38
Eye

Publications for Cataract 11, Multiple Types

Articles related to Cataract 11, Multiple Types:

# Title Authors Year
1
Recurrent 17 bp duplication in PITX3 is primarily associated with posterior polar cataract (CPP4). ( 15286169 )
2004

Variations for Cataract 11, Multiple Types

UniProtKB/Swiss-Prot genetic disease variations for Cataract 11, Multiple Types:

71
# Symbol AA change Variation ID SNP ID
1 PITX3 p.Ser13Asn VAR_003767 rs104894175

ClinVar genetic disease variations for Cataract 11, Multiple Types:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PITX3 NM_005029.3(PITX3): c.640_656dup (p.Gly220Profs) duplication Pathogenic GRCh37 Chromosome 10, 103990524: 103990540

Expression for Cataract 11, Multiple Types

Search GEO for disease gene expression data for Cataract 11, Multiple Types.

Pathways for Cataract 11, Multiple Types

GO Terms for Cataract 11, Multiple Types

Sources for Cataract 11, Multiple Types

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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