CTRCT11
MCID: CTR113
MIFTS: 31

Cataract 11, Multiple Types (CTRCT11) malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Cataract 11, Multiple Types

Aliases & Descriptions for Cataract 11, Multiple Types:

Name: Cataract 11, Multiple Types 54 66 13
Ctpp4 12 50 66
Cpp4 12 50 66
Cataract 11 with Microphthalmia and Neurodevelopmental Abnormalities 66 29
Cataract, Posterior Polar, 4 50 69
Cataract 11 Multiple Types 12 14
Cataract Posterior Polar 4 66 29
Ctrct11 12 66
Posterior Polar Cataract, 4 50
Posterior Polar Cataract 4 12
Cataract 11, Syndromic 54
Syndromic Cataract 11 66

Characteristics:

HPO:

32
cataract 11, multiple types:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 610623
Disease Ontology 12 DOID:0110249
ICD10 33 Q12.0
MedGen 40 C1864567
MeSH 42 D002386

Summaries for Cataract 11, Multiple Types

UniProtKB/Swiss-Prot : 66 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 2-methylbutyrylglycinuria and cataract, and has symptoms including cataract and microphthalmia. An important gene associated with Cataract 11, Multiple Types is PITX3 (Paired Like Homeodomain 3). The drugs Busulfan and Cyclosporine have been mentioned in the context of this disorder. Affiliated tissues include eye, and related phenotype is Increased shRNA abundance (Z-score > 2).

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

OMIM : 54 Mutations in the PITX3 gene have been found to cause multiple types of cataract, which have been described as... (610623) more...

Related Diseases for Cataract 11, Multiple Types

Symptoms & Phenotypes for Cataract 11, Multiple Types

Symptoms by clinical synopsis from OMIM:

610623

Clinical features from OMIM:

610623

Human phenotypes related to Cataract 11, Multiple Types:

32
id Description HPO Frequency HPO Source Accession
1 cataract 32 HP:0000518
2 microphthalmia 32 HP:0000568

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

26
id 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

Drugs for Cataract 11, Multiple Types (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 43)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Busulfan Approved, Investigational Phase 1, Phase 2 55-98-1 2478
2
Cyclosporine Approved, Investigational, Vet_approved Phase 1, Phase 2 79217-60-0, 59865-13-3 5284373 6435893
3
Fludarabine Approved Phase 1, Phase 2 21679-14-1, 75607-67-9 30751
4
Lenograstim Approved Phase 1, Phase 2 135968-09-1
5
Methotrexate Approved Phase 1, Phase 2 1959-05-2, 59-05-2 126941
6
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
7
Mycophenolate mofetil Approved, Investigational Phase 1, Phase 2 128794-94-5 5281078
8
Mycophenolic acid Approved Phase 1, Phase 2 24280-93-1 446541
9
Phenytoin Approved, Vet_approved Phase 1, Phase 2 57-41-0 1775
10
Vidarabine Approved Phase 1, Phase 2 24356-66-9 32326 21704
11
Folic Acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 59-30-3 6037
12
leucovorin Approved, Nutraceutical Phase 1, Phase 2 58-05-9 54575, 6560146 143
13 Adjuvants, Immunologic Phase 1, Phase 2
14 Alkylating Agents Phase 1, Phase 2
15 Anti-Bacterial Agents Phase 1, Phase 2
16 Antibiotics, Antitubercular Phase 1, Phase 2
17 Antibodies Phase 1, Phase 2
18 Anticonvulsants Phase 1, Phase 2
19 Antifungal Agents Phase 1, Phase 2
20 Anti-Infective Agents Phase 1, Phase 2
21 Antimetabolites Phase 1, Phase 2
22 Antimetabolites, Antineoplastic Phase 1, Phase 2
23 Antineoplastic Agents, Alkylating Phase 1, Phase 2
24 Antirheumatic Agents Phase 1, Phase 2
25 Antiviral Agents Phase 1, Phase 2
26 Calcineurin Inhibitors Phase 1, Phase 2
27 Calcium, Dietary Phase 1, Phase 2
28 Dermatologic Agents Phase 1, Phase 2
29 Disinfectants Phase 1, Phase 2
30 Diuretics, Potassium Sparing Phase 1, Phase 2
31 Folic Acid Antagonists Phase 1, Phase 2
32 Hormones Phase 1, Phase 2
33 Immunoglobulins Phase 1, Phase 2
34 Immunosuppressive Agents Phase 1, Phase 2
35 Interleukin-2 Phase 1, Phase 2
36 Interleukin-4 Phase 1, Phase 2
37 Krestin Phase 1, Phase 2
38 Mitogens Phase 1, Phase 2
39 Nucleic Acid Synthesis Inhibitors Phase 1, Phase 2
40 Sodium Channel Blockers Phase 1, Phase 2
41 Vitamin B Complex Phase 1, Phase 2
42 Folate Nutraceutical Phase 1, Phase 2
43 Vitamin B9 Nutraceutical Phase 1, Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase
1 Busulfan, Fludarabine, and Total-Body Irradiation in Treating Patients Who Are Undergoing a Donor Stem Cell Transplant for Hematologic Cancer Completed NCT00245037 Phase 1, Phase 2
2 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Cataract 11, Multiple Types

Genetic Tests for Cataract 11, Multiple Types

Genetic tests related to Cataract 11, Multiple Types:

id Genetic test Affiliating Genes
1 Cataract, Posterior Polar, 4 29
2 Cataract 11 with Microphthalmia and Neurodevelopmental Abnormalities 29

Anatomical Context for Cataract 11, Multiple Types

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

39
Eye

Publications for Cataract 11, Multiple Types

Variations for Cataract 11, Multiple Types

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

66
id 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

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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....