MCID: CTR129
MIFTS: 39

Cataract 31, Multiple Types

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

Aliases & Classifications for Cataract 31, Multiple Types

MalaCards integrated aliases for Cataract 31, Multiple Types:

Name: Cataract 31, Multiple Types 54 24 71
Cataract, Posterior Polar, 3 50 29 13 69
Ctpp3 12 50 24 71
Ctrct31 12 24 71
Cpp3 12 24 71
Cataract 31 Multiple Types 12 14
Posterior Polar Cataract 3 12 71
Cataract, Posterior Polar 3 24

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
onset is usually in childhood


HPO:

32
cataract 31, multiple types:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 605387
Disease Ontology 12 DOID:0110265
ICD10 33 Q12.0
MedGen 40 C1854311
MeSH 42 D002386
SNOMED-CT via HPO 65 263681008 315353005

Summaries for Cataract 31, Multiple Types

UniProtKB/Swiss-Prot : 71 Cataract 31, 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. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT31 includes posterior polar, progressive posterior subcapsular, nuclear, and anterior subcapsular cataracts.

MalaCards based summary : Cataract 31, Multiple Types, also known as cataract, posterior polar, 3, is related to xeroderma pigmentosum, group f and tolosa-hunt syndrome, and has symptoms including posterior subcapsular cataract An important gene associated with Cataract 31, Multiple Types is CHMP4B (Charged Multivesicular Body Protein 4B), and among its related pathways/superpathways are Colorectal Cancer Metastasis and NRF2 pathway. The drugs Basiliximab and Methylprednisolone have been mentioned in the context of this disorder. Affiliated tissues include eye, and related phenotype is Decreased viability with paclitaxel.

OMIM : 54
Mutations in the CHMP4B gene have been found to cause multiple types of cataract, which have been described as posterior polar, progressive posterior subcapsular, nuclear, and anterior subcapsular. The preferred title/symbol of this entry was formerly 'Cataract, Posterior Polar, 3; CTPP3.' (605387)

Disease Ontology : 12 A cataract that has material basis in heterozygous mutation in the CHMP4B gene on chromosome 20q11.

Related Diseases for Cataract 31, Multiple Types

Diseases in the Cataract family:

Cataract 8, Multiple Types Cataract 6, Multiple Types
Cataract 34, Multiple Types Cataract 1, Multiple Types
Cataract 39, Multiple Types, Autosomal Dominant Cataract 2, Multiple Types
Cataract 4, Multiple Types Cataract 42
Cataract 18, Autosomal Recessive Cataract 12, Multiple Types
Cataract 20, Multiple Types Cataract 41
Cataract 46, Juvenile-Onset Cataract 38, Autosomal Recessive
Cataract 26, Multiple Types Cataract 36
Cataract 11, Multiple Types Cataract 16, Multiple Types
Cataract 15, Multiple Types Cataract 14, Multiple Types
Cataract 32, Multiple Types Cataract 25
Cataract 5, Multiple Types Cataract 21, Multiple Types
Cataract 43 Cataract 10, Multiple Types
Cataract 7 Cataract 45
Cataract 19, Multiple Types Cataract 33, Multiple Types
Cataract 31, Multiple Types Cataract 9, Multiple Types
Cataract 44 Cataract 17, Multiple Types
Cataract 3, Multiple Types Cataract 22
Cataract 23 Cataract 28
Cataract 37 Cataract 35
Cataract 33 Cataract Congenital Autosomal Dominant
Cataract, Total Congenital Cataract 19
Cataract, Autosomal Dominant Congenital 4 Cataracts, Autosomal Recessive
Foxe3-Related Cataracts, Autosomal Dominant

Diseases related to Cataract 31, Multiple Types via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
id Related Disease Score Top Affiliating Genes
1 xeroderma pigmentosum, group f 10.2 F9 HP
2 tolosa-hunt syndrome 9.9 GGT1 GGT2
3 malignant visceral pleura tumor 9.8 GGT1 GGT2
4 stenosis of lacrimal punctum 9.8 GGT1 GGT2
5 microphthalmia, syndromic 13 9.8 ACP1 HP
6 chorioangioma 9.7 GGT1 GGT2
7 limb ischemia 9.6 GGT1 GGT2 KRAS
8 pancreatic cystadenocarcinoma 9.6 GGT1 GGT2
9 tricuspid valve insufficiency 9.6 GGT1 GGT2 KRAS
10 acinar cell cystadenocarcinoma 9.6 GGT1 GGT2 KRAS
11 autoimmune disease, multisystem, with facial dysmorphism 5.3 ACP1 BFSP1 CHMP4B ENSG00000264813 F9 GABARAP

Graphical network of the top 20 diseases related to Cataract 31, Multiple Types:



Diseases related to Cataract 31, Multiple Types

Symptoms & Phenotypes for Cataract 31, Multiple Types

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Eyes:
nuclear cataract
posterior subcapsular cataract, progressive
anterior subcapsular cataract


Clinical features from OMIM:

605387

Human phenotypes related to Cataract 31, Multiple Types:

32
id Description HPO Frequency HPO Source Accession
1 posterior subcapsular cataract 32 HP:0007787

GenomeRNAi Phenotypes related to Cataract 31, Multiple Types according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability with paclitaxel GR00179-A-1 8.92 MAPK3 TGFB1
2 Decreased viability with paclitaxel GR00179-A-3 8.92 MAPK3 TGFB1

Drugs & Therapeutics for Cataract 31, Multiple Types

Drugs for Cataract 31, Multiple Types (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 31)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Basiliximab Approved, Investigational Phase 4 152923-56-3, 179045-86-4
2
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
3
Mycophenolate mofetil Approved, Investigational Phase 4 128794-94-5 5281078
4
Mycophenolic acid Approved Phase 4 24280-93-1 446541
5
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
6
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
7
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492
8 Anti-Bacterial Agents Phase 4
9 Antibiotics, Antitubercular Phase 4
10 Antibodies Phase 4
11 Antibodies, Monoclonal Phase 4
12 Antiemetics Phase 4
13 Anti-Inflammatory Agents Phase 4
14 Antineoplastic Agents, Hormonal Phase 4
15 Autonomic Agents Phase 4
16 Calcineurin Inhibitors Phase 4
17 Gastrointestinal Agents Phase 4
18 glucocorticoids Phase 4
19 Hormone Antagonists Phase 4
20 Hormones Phase 4
21 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
22 Immunoglobulins Phase 4
23 Immunosuppressive Agents Phase 4
24 Methylprednisolone acetate Phase 4
25 Methylprednisolone Hemisuccinate Phase 4
26 Neuroprotective Agents Phase 4
27 Peripheral Nervous System Agents Phase 4
28 Prednisolone acetate Phase 4
29 Prednisolone hemisuccinate Phase 4
30 Prednisolone phosphate Phase 4
31 Protective Agents Phase 4

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Phase IV Study to Evaluate Calcineurin Inhibitor Reduced, Steroid Free Immunosuppression After Renal Transplantation Completed NCT00724022 Phase 4 Basiliximab, Tacrolimus, MMF, Prednisolon;Basiliximab, Tacrolimus, MMF;Tacrolimus, MMF, rATG
2 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Cataract 31, Multiple Types

Genetic Tests for Cataract 31, Multiple Types

Genetic tests related to Cataract 31, Multiple Types:

id Genetic test Affiliating Genes
1 Cataract, Posterior Polar, 3 29
2 Cataract 31, Multiple Types 24 CHMP4B

Anatomical Context for Cataract 31, Multiple Types

MalaCards organs/tissues related to Cataract 31, Multiple Types:

39
Eye

Publications for Cataract 31, Multiple Types

Variations for Cataract 31, Multiple Types

UniProtKB/Swiss-Prot genetic disease variations for Cataract 31, Multiple Types:

71
id Symbol AA change Variation ID SNP ID
1 CHMP4B p.Asp129Val VAR_037579 rs118203965
2 CHMP4B p.Glu161Lys VAR_037580 rs118203966

ClinVar genetic disease variations for Cataract 31, Multiple Types:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CHMP4B NM_176812.4(CHMP4B): c.386A> T (p.Asp129Val) single nucleotide variant Pathogenic rs118203965 GRCh37 Chromosome 20, 32438775: 32438775
2 CHMP4B NM_176812.4(CHMP4B): c.481G> A (p.Glu161Lys) single nucleotide variant Pathogenic rs118203966 GRCh37 Chromosome 20, 32438870: 32438870

Expression for Cataract 31, Multiple Types

Search GEO for disease gene expression data for Cataract 31, Multiple Types.

Pathways for Cataract 31, Multiple Types

GO Terms for Cataract 31, Multiple Types

Biological processes related to Cataract 31, Multiple Types according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.55 ENSG00000264813 F9 GGT1 GGT2 HP
2 positive regulation of protein phosphorylation GO:0001934 9.5 KRAS MAPK3 TGFB1
3 positive regulation of histone acetylation GO:0035066 9.26 MAPK3 TGFB1
4 glutathione catabolic process GO:0006751 8.96 GGT1 GGT2
5 zymogen activation GO:0031638 8.8 F9 GGT1 GGT2

Molecular functions related to Cataract 31, Multiple Types according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 glutathione hydrolase activity GO:0036374 8.62 GGT1 GGT2

Sources for Cataract 31, 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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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