MCID: CTR115
MIFTS: 38

Cataract 16, Multiple Types

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

Aliases & Classifications for Cataract 16, Multiple Types

MalaCards integrated aliases for Cataract 16, Multiple Types:

Name: Cataract 16, Multiple Types 54 71 29 69
Posterior Polar Cataract 2 12 24 71
Ctrct16 12 71
Ctpp2 12 71
Early-Onset Posterior Polar Cataract 56
Early-Onset Lamellar Cataract 56
Congenital Lamellar Cataract 71
Cataract, Posterior Polar, 2 69
Cataract, Posterior Polar 2 13
Cataract 16 Multiple Types 12

Characteristics:

Orphanet epidemiological data:

56
early-onset lamellar cataract
Inheritance: Autosomal dominant;
early-onset posterior polar cataract
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

54
Miscellaneous:
one consanguineous family with homozygosity for a cryab mutation has been reported (last curated april 2013)

Inheritance:
autosomal recessive
autosomal dominant


HPO:

32
cataract 16, multiple types:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 613763
Disease Ontology 12 DOID:0110250
ICD10 33 Q12.0
UMLS via Orphanet 70 C0858617
ICD10 via Orphanet 34 Q12.0
MeSH 42 D002386

Summaries for Cataract 16, Multiple Types

UniProtKB/Swiss-Prot : 71 Cataract 16, 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. CTRCT16 includes posterior polar cataract, among others. Posterior polar cataract is a subcapsular opacity, usually disk-shaped, located at the back of the lens.

MalaCards based summary : Cataract 16, Multiple Types, also known as posterior polar cataract 2, is related to postpartum psychosis and cough headache, and has symptoms including congenital cataract, retinal dystrophy and posterior polar cataract. An important gene associated with Cataract 16, Multiple Types is CRYAB (Crystallin Alpha B). Affiliated tissues include eye, and related phenotype is vision/eye.

Disease Ontology : 12 A cataract that has material basis in heterozygous or homozygous mutation in the CRYAB gene on chromosome 11q.

OMIM : 54
Mutations in the CRYAB gene have been found to cause multiple types of cataract, which have been described as congenital posterior polar, congenital lamellar, and juvenile. Autosomal dominant and autosomal recessive forms have been described. The preferred title/symbol of this entry was formerly 'Cataract, Posterior Polar, 2; CTPP2.' (613763)

Related Diseases for Cataract 16, 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 16, Multiple Types via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 22)
id Related Disease Score Top Affiliating Genes
1 postpartum psychosis 10.4 CHMP4B EPHA2
2 cough headache 10.3 CRYAB PITX3
3 cataract 11, multiple types 10.2 CRYGS PITX3
4 cervical ribs, sprengel anomaly, anal atresia, and urethral obstruction 10.2 CRYGD MIP
5 perrault syndrome 6 10.1 CRYAB CRYBA1
6 cataract 10.0
7 female breast lower-outer quadrant cancer 9.9 CRYAA CRYGD CRYGS
8 olmsted syndrome 9.9 CRYAA CRYGB
9 conjugate gaze palsy 9.8 CRYAA CRYGS
10 pancreatic and cerebellar agenesis 9.7 BFSP2 CRYGC CRYGD GJA3
11 palindromic rheumatism 9.5 BFSP2 CRYAA CRYGS MIP
12 late congenital syphilis 9.5 BFSP2 CRYAA CRYGS MIP
13 endometrial stromal nodule 9.5 CRYAA CRYGB CRYGS MIP
14 gilles de la tourette syndrome 9.5 BFSP2 CRYBA1 CRYGS MIP
15 hypermethioninemia 9.4 CRYAB CRYBA1 CRYGD GJA3 PITX3
16 anorectal stricture 9.3 CRYAA CRYAB CRYGS GJA3 MIP PITX3
17 popliteal pterygium syndrome, bartsocas-papas type 9.3 CRYAA CRYGB EPHA2 HSF4 MIP
18 cataract, total congenital 9.0 CRYAA CRYBA4 CRYGC CRYGD
19 double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis 8.2 CRYAA CRYAB CRYBA1 CRYGC CRYGD EPHA2
20 down syndrome 7.5 BFSP2 CRYAA CRYAB CRYBA1 CRYGC CRYGD
21 cerebral palsy 5.6 BFSP2 CRYAA CRYAB CRYBA1 CRYBA4 CRYGB
22 myopathy, myofibrillar, fatal infantile hypertonic, alpha-b crystallin-related 5.2 BFSP2 CHMP4B CRYAA CRYAB CRYBA1 CRYBA4

Graphical network of the top 20 diseases related to Cataract 16, Multiple Types:



Diseases related to Cataract 16, Multiple Types

Symptoms & Phenotypes for Cataract 16, Multiple Types

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Eyes:
retinal dystrophy (rare)
cataract, juvenile-onset (in some patients)
cataract, congenital (in some patients)
cataract, nuclear (in some patients)
cataract, complete (in some patients)
more

Clinical features from OMIM:

613763

Human phenotypes related to Cataract 16, Multiple Types:

32
id Description HPO Frequency HPO Source Accession
1 congenital cataract 32 occasional (7.5%) HP:0000519
2 retinal dystrophy 32 occasional (7.5%) HP:0000556
3 posterior polar cataract 32 HP:0001115

MGI Mouse Phenotypes related to Cataract 16, Multiple Types:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.4 CRYBA1 CRYGB CRYGC CRYGD CRYGS EPHA2

Drugs & Therapeutics for Cataract 16, Multiple Types

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Prevalence of Ocular Disorders in Multiple Myeloma (MM-OO-16) Completed NCT02917239
2 A Randomised Evaluation of Visual Function After Bilateral Implantation of Two Types of Presbyopia-correcting IOLs Recruiting NCT03117426
3 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Cataract 16, Multiple Types

Genetic Tests for Cataract 16, Multiple Types

Genetic tests related to Cataract 16, Multiple Types:

id Genetic test Affiliating Genes
1 Cataract 16, Multiple Types 29
2 Posterior Polar Cataract 2 24 CRYAB

Anatomical Context for Cataract 16, Multiple Types

MalaCards organs/tissues related to Cataract 16, Multiple Types:

39
Eye

Publications for Cataract 16, Multiple Types

Variations for Cataract 16, Multiple Types

ClinVar genetic disease variations for Cataract 16, Multiple Types:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CRYAB CRYAB, 1-BP DEL, 450A deletion Pathogenic
2 CRYAB NM_001885.2(CRYAB): c.418G> A (p.Asp140Asn) single nucleotide variant Pathogenic rs387907336 GRCh37 Chromosome 11, 111779598: 111779598
3 CRYAB NM_001885.2(CRYAB): c.58C> T (p.Pro20Ser) single nucleotide variant Pathogenic rs387907337 GRCh37 Chromosome 11, 111782391: 111782391
4 CRYAB NM_001885.2(CRYAB): c.166C> T (p.Arg56Trp) single nucleotide variant Pathogenic rs387907338 GRCh37 Chromosome 11, 111782283: 111782283

Expression for Cataract 16, Multiple Types

Search GEO for disease gene expression data for Cataract 16, Multiple Types.

Pathways for Cataract 16, Multiple Types

GO Terms for Cataract 16, Multiple Types

Cellular components related to Cataract 16, Multiple Types according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 gap junction GO:0005921 8.62 GJA3 MIP

Biological processes related to Cataract 16, Multiple Types according to GeneCards Suite gene sharing:

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.78 BFSP2 CRYAA CRYGD MIP
2 protein homooligomerization GO:0051260 9.62 CHMP4B CRYAA CRYAB HSF4
3 lens development in camera-type eye GO:0002088 9.5 CRYAB CRYBA1 CRYGB CRYGD CRYGS MIP
4 negative regulation of protein kinase B signaling GO:0051898 9.49 CRYBA1 EPHA2
5 lens fiber cell differentiation GO:0070306 9.46 CRYGD PITX3
6 negative regulation of cytokine production GO:0001818 9.43 CRYBA1 EPHA2
7 lens fiber cell development GO:0070307 9.4 BFSP2 CRYGB
8 camera-type eye development GO:0043010 9.37 CRYBA4 HSF4
9 visual perception GO:0007601 9.32 BFSP2 CRYAA CRYBA1 CRYBA4 CRYGB CRYGC
10 lens fiber cell morphogenesis GO:0070309 9.26 CRYGB EPHA2
11 negative regulation of intracellular transport GO:0032387 9.16 CRYAA CRYAB

Molecular functions related to Cataract 16, Multiple Types according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 structural constituent of eye lens GO:0005212 9.32 BFSP2 CRYAA CRYAB CRYBA1 CRYBA4 CRYGB

Sources for Cataract 16, 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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