CTRCT11
MCID: CTR113
MIFTS: 28

Cataract 11, Multiple Types (CTRCT11)

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

Aliases & Classifications for Cataract 11, Multiple Types

MalaCards integrated aliases for Cataract 11, Multiple Types:

Name: Cataract 11, Multiple Types 58 76 13
Ctpp4 58 12 54 76
Cpp4 58 12 54 76
Cataract, Posterior Polar, 4 58 54 74
Ctrct11 58 12 76
Cataract 11 with Microphthalmia and Neurodevelopmental Abnormalities 76 30
Cataract 11 Multiple Types 12 15
Cataract 11, Syndromic, Autosomal Recessive 58
Cataract, Type 11, Multiple Types ) 41
Cataract, Posterior Polar, 4; Ctpp4 58
Posterior Polar Cataract, 4 54
Posterior Polar Cataract 4 12
Cataract Posterior Polar 4 76
Syndromic Cataract 11 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant
autosomal recessive (in 2 patients)

Miscellaneous:
two individuals in a large lebanese ctrct11 family were homozygous for the pitx3 mutation and had severe ocular disease and neurologic features


HPO:

33
cataract 11, multiple types:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



Summaries for Cataract 11, Multiple Types

UniProtKB/Swiss-Prot : 76 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 ctpp4, is related to anterior segment dysgenesis 1 and cataract. An important gene associated with Cataract 11, Multiple Types is PITX3 (Paired Like Homeodomain 3). Affiliated tissues include eye, and related phenotypes are intellectual disability and chorea

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

OMIM : 58 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)

Related Diseases for Cataract 11, Multiple Types

Symptoms & Phenotypes for Cataract 11, Multiple Types

Human phenotypes related to Cataract 11, Multiple Types:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 chorea 33 HP:0002072
3 cataract 33 HP:0000518
4 blindness 33 HP:0000618
5 hypertonia 33 HP:0001276
6 reduced tendon reflexes 33 HP:0001315
7 microphthalmia 33 HP:0000568

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
cataract, posterior polar, congenital progressive
anterior segment mesenchymal dysgenesis (in some patients)
microphthalmia (in homozygous patients)
blindness (in homozygous patients)

Neurologic Central Nervous System:
mental retardation (in homozygous patients)
choreiform movements (in homozygous patients)
increased muscle tone (in homozygous patients)
decreased deep tendon reflexes (in homozygous patients)

Clinical features from OMIM:

610623

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

27 (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-23 9.58 PITX3
9 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.58 PPP1R2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.58 PITX3
11 Increased shRNA abundance (Z-score > 2) GR00366-A-65 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 11 with Microphthalmia and Neurodevelopmental Abnormalities 30

Anatomical Context for Cataract 11, Multiple Types

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

42
Eye

Publications for Cataract 11, Multiple Types

Articles related to Cataract 11, Multiple Types:

# Title Authors Year
1
A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD. ( 9620774 )
1998

Variations for Cataract 11, Multiple Types

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

76
# 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.38G> A (p.Ser13Asn) single nucleotide variant Pathogenic rs104894175 GRCh37 Chromosome 10, 103991800: 103991800
2 PITX3 NM_005029.3(PITX3): c.38G> A (p.Ser13Asn) single nucleotide variant Pathogenic rs104894175 GRCh38 Chromosome 10, 102232043: 102232043
3 PITX3 NM_005029.3(PITX3): c.640_656dup (p.Gly220Profs) duplication Pathogenic rs1411557416 GRCh37 Chromosome 10, 103990524: 103990540
4 PITX3 NM_005029.3(PITX3): c.640_656dup (p.Gly220Profs) duplication Pathogenic rs1411557416 GRCh38 Chromosome 10, 102230767: 102230783
5 PITX3 NM_005029.3(PITX3): c.414G> T (p.Gly138=) single nucleotide variant Uncertain significance rs1554934124 GRCh38 Chromosome 10, 102231009: 102231009
6 PITX3 NM_005029.3(PITX3): c.414G> T (p.Gly138=) single nucleotide variant Uncertain significance rs1554934124 GRCh37 Chromosome 10, 103990766: 103990766
7 PITX3 NM_005029.3(PITX3): c.640_656delGCCCTGCAGGGCCTGGG (p.Ala214Argfs) deletion Uncertain significance rs1411557416 GRCh37 Chromosome 10, 103990524: 103990540
8 PITX3 NM_005029.3(PITX3): c.640_656delGCCCTGCAGGGCCTGGG (p.Ala214Argfs) deletion Uncertain significance rs1411557416 GRCh38 Chromosome 10, 102230767: 102230783
9 PITX3 NM_005029.3(PITX3): c.388A> T (p.Lys130Ter) single nucleotide variant Uncertain significance GRCh38 Chromosome 10, 102231035: 102231035
10 PITX3 NM_005029.3(PITX3): c.388A> T (p.Lys130Ter) single nucleotide variant Uncertain significance GRCh37 Chromosome 10, 103990792: 103990792

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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
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38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
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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