CTRCT11
MCID: CTR113
MIFTS: 37

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 57 72 13
Cataract, Posterior Polar, 4 57 20 6 70
Ctpp4 57 12 20 72
Cpp4 57 12 20 72
Ctrct11 57 12 72
Cataract 11 with Microphthalmia and Neurodevelopmental Abnormalities 72 29
Cataract 11, Syndromic, Autosomal Recessive 57 29
Cataract 11 Multiple Types 12 15
Cataract, Posterior Polar, 4; Ctpp4 57
Cataract, Type 11, Multiple Types 39
Posterior Polar Cataract, 4 20
Posterior Polar Cataract 4 12
Cataract Posterior Polar 4 72
Syndromic Cataract 11 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
cataract 11, multiple types:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110249
OMIM® 57 610623
OMIM Phenotypic Series 57 PS116200
MeSH 44 D002386
ICD10 32 Q12.0
MedGen 41 C1864567
UMLS 70 C1864567

Summaries for Cataract 11, Multiple Types

UniProtKB/Swiss-Prot : 72 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 anterior segment dysgenesis 1 and posterior polar cataract. An important gene associated with Cataract 11, Multiple Types is PITX3 (Paired Like Homeodomain 3), and among its related pathways/superpathways is Endocytosis. 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® : 57 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) (Updated 05-Apr-2021)

Related Diseases for Cataract 11, Multiple Types

Diseases in the Cataract family:

Cataract 32, Multiple Types Cataract 7
Cataract 8, Multiple Types Cataract 4, Multiple Types
Cataract 29 Cataract 42
Cataract 20, Multiple Types Cataract 1, Multiple Types
Cataract 30, Multiple Types Cataract 41
Cataract 6, Multiple Types Cataract 5, Multiple Types
Cataract 40 Cataract 10, Multiple Types
Cataract 24 Cataract 3, Multiple Types
Cataract 14, Multiple Types Cataract 9, Multiple Types
Cataract 2, Multiple Types Cataract 31, Multiple Types
Cataract 25 Cataract 26, Multiple Types
Cataract 27 Cataract 28
Cataract 35 Cataract 22, Multiple Types
Cataract 18 Cataract 21, Multiple Types
Cataract 23, Multiple Types Cataract 11, Multiple Types
Cataract 33, Multiple Types Cataract 17, Multiple Types
Cataract 12, Multiple Types Cataract 47
Cataract 34, Multiple Types Cataract 16, Multiple Types
Cataract 36 Cataract 37
Cataract 38 Cataract 39, Multiple Types
Cataract 15, Multiple Types Cataract 19, Multiple Types
Cataract 43 Cataract 44
Cataract 45 Cataract 48
Cataract 30 Cataract 33
Cataract Congenital Autosomal Dominant Cataract, Total Congenital

Diseases related to Cataract 11, Multiple Types via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 29)
# Related Disease Score Top Affiliating Genes
1 anterior segment dysgenesis 1 30.1 PITX3 GBF1
2 posterior polar cataract 29.5 PITX3 GBF1 CRYBA1 CRYAA CHMP4B
3 cataract 28.9 TMEM114 PITX3 GBF1 CRYBA1 CRYAA CHMP4B
4 amblyopia 10.3 PITX3 CRYAA
5 ayme-gripp syndrome 10.2 PITX3 CRYAA
6 early-onset lamellar cataract 10.2 CRYBA1 CRYAA
7 scleral staphyloma 10.2 CRYBA1 CRYAA
8 leukocoria 10.2 CRYBA1 CRYAA
9 axenfeld-rieger syndrome, type 1 10.2 PITX3 CRYAA
10 night blindness, congenital stationary, type 2a 10.1 CRYBA1 CRYAA
11 early-onset nuclear cataract 10.1 CRYBA1 CRYAA
12 iris disease 10.1 PITX3 CRYAA
13 juvenile glaucoma 10.1 PITX3 CRYAA
14 lens disease 10.1 PITX3 CRYBA1 CRYAA
15 cardiofaciocutaneous syndrome 3 10.1 CPZ AGBL3
16 cardiofaciocutaneous syndrome 2 10.1 CPZ AGBL3
17 early-onset posterior polar cataract 10.0 PITX3 CRYBA1 CHMP4B
18 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 10.0 CHMP4B CHMP4A
19 early-onset parkinson's disease 10.0 PITX3 CRYAA
20 early-onset non-syndromic cataract 9.9 PITX3 GBF1 CRYBA1 CHMP4B
21 galactosemia ii 9.9 TMEM114 CRYAA
22 erythrokeratodermia variabilis et progressiva 1 9.9 CRYBA1 CRYAA
23 disuse amblyopia 9.8 PITX3 CRYAA CHMP4B CHMP4A
24 anterior segment dysgenesis 9.7 TMEM114 PITX3 GBF1 CRYAA
25 axenfeld-rieger syndrome, type 3 9.6 TMEM114 PITX3 CRYBA1 CRYAA
26 cataract 32, multiple types 9.3 TMEM114 CRYBA1 CRYAA CHMP4B CHMP4A
27 cataract 6, multiple types 9.3 TMEM114 CRYBA1 CRYAA CHMP4B CHMP4A
28 cataract 16, multiple types 9.2 TMEM114 PITX3 CRYBA1 CRYAA CHMP4B CHMP4A
29 cataract 31, multiple types 9.1 CRYBA1 CRYAA CPZ CHMP4B CHMP4A AGBL3

Graphical network of the top 20 diseases related to Cataract 11, Multiple Types:



Diseases related to Cataract 11, Multiple Types

Symptoms & Phenotypes for Cataract 11, Multiple Types

Human phenotypes related to Cataract 11, Multiple Types:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 chorea 31 HP:0002072
3 cataract 31 HP:0000518
4 blindness 31 HP:0000618
5 hypertonia 31 HP:0001276
6 reduced tendon reflexes 31 HP:0001315
7 microphthalmia 31 HP:0000568

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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

26 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-105 9.47 PITX3
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.47 AGBL3 PITX3
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-151 9.47 PITX3
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-168 9.47 PITX3
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-191 9.47 PITX3
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.47 PPP1R2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-22 9.47 PITX3
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.47 PPP1R2
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 9.47 PPP1R2
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-65 9.47 PITX3
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-77 9.47 PITX3
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-95 9.47 PPP1R2
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-96 9.47 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 29
2 Cataract 11, Syndromic, Autosomal Recessive 29

Anatomical Context for Cataract 11, Multiple Types

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

40
Eye

Publications for Cataract 11, Multiple Types

Articles related to Cataract 11, Multiple Types:

# Title Authors PMID Year
1
A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD. 6 57
9620774 1998
2
Recurrent 17 bp duplication in PITX3 is primarily associated with posterior polar cataract (CPP4). 57 61
15286169 2004
3
Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics. 6
24555714 2014
4
Functional analysis of human mutations in homeodomain transcription factor PITX3. 6
17888164 2007
5
Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities. 57
16565358 2006

Variations for Cataract 11, Multiple Types

ClinVar genetic disease variations for Cataract 11, Multiple Types:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GBF1 , PITX3 NM_005029.4(PITX3):c.38G>A (p.Ser13Asn) SNV Pathogenic 6938 rs104894175 GRCh37: 10:103991800-103991800
GRCh38: 10:102232043-102232043
2 GBF1 , PITX3 NM_005029.4(PITX3):c.640_656dup (p.Gly220fs) Duplication Pathogenic 468353 rs1411557416 GRCh37: 10:103990523-103990524
GRCh38: 10:102230766-102230767
3 GBF1 , PITX3 NM_005029.4(PITX3):c.726_728CGC[6] (p.Ala250dup) Microsatellite Uncertain significance 665913 rs749538425 GRCh37: 10:103990439-103990440
GRCh38: 10:102230682-102230683
4 GBF1 , PITX3 NM_005029.4(PITX3):c.388A>T (p.Lys130Ter) SNV Uncertain significance 583055 rs1564991469 GRCh37: 10:103990792-103990792
GRCh38: 10:102231035-102231035
5 GBF1 , PITX3 NM_005029.4(PITX3):c.414G>T (p.Gly138=) SNV Uncertain significance 468251 rs1554934124 GRCh37: 10:103990766-103990766
GRCh38: 10:102231009-102231009
6 GBF1 , PITX3 NM_005029.4(PITX3):c.640_656del (p.Ala214fs) Deletion Uncertain significance 468252 rs1411557416 GRCh37: 10:103990524-103990540
GRCh38: 10:102230767-102230783

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

72
# Symbol AA change Variation ID SNP ID
1 PITX3 p.Ser13Asn VAR_003767 rs104894175

Expression for Cataract 11, Multiple Types

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

Pathways for Cataract 11, Multiple Types

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

# Super pathways Score Top Affiliating Genes
1 11.2 GBF1 CHMP4B CHMP4A

GO Terms for Cataract 11, Multiple Types

Cellular components related to Cataract 11, Multiple Types according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasmic side of plasma membrane GO:0009898 9.32 CHMP4B CHMP4A
2 multivesicular body GO:0005771 9.26 CHMP4B CHMP4A
3 membrane coat GO:0030117 9.16 CHMP4B CHMP4A
4 ESCRT III complex GO:0000815 8.96 CHMP4B CHMP4A
5 ELL-EAF complex GO:0032783 8.62 AFF4 AFF3

Biological processes related to Cataract 11, Multiple Types according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 lens development in camera-type eye GO:0002088 9.52 PITX3 CRYBA1
2 mitotic metaphase plate congression GO:0007080 9.51 CHMP4B CHMP4A
3 multivesicular body assembly GO:0036258 9.49 CHMP4B CHMP4A
4 viral life cycle GO:0019058 9.48 CHMP4B CHMP4A
5 nucleus organization GO:0006997 9.46 CHMP4B CHMP4A
6 viral budding via host ESCRT complex GO:0039702 9.43 CHMP4B CHMP4A
7 vacuolar transport GO:0007034 9.4 CHMP4B CHMP4A
8 negative regulation of autophagosome assembly GO:1902902 9.37 CHMP4B CHMP4A
9 midbody abscission GO:0061952 9.32 CHMP4B CHMP4A
10 vesicle budding from membrane GO:0006900 9.26 CHMP4B CHMP4A
11 protein polymerization GO:0051258 9.16 CHMP4B CHMP4A
12 late endosome to vacuole transport via multivesicular body sorting pathway GO:0032511 8.96 CHMP4B CHMP4A
13 posttranslational protein targeting to endoplasmic reticulum membrane GO:0006620 8.62 CHMP4B CHMP4A

Molecular functions related to Cataract 11, Multiple Types according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 carboxypeptidase activity GO:0004180 9.16 CPZ AGBL3
2 metallocarboxypeptidase activity GO:0004181 8.96 CPZ AGBL3
3 structural constituent of eye lens GO:0005212 8.62 CRYBA1 CRYAA

Sources for Cataract 11, Multiple Types

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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