Cataract 16, Multiple Types disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Cataract 16, Multiple Types

MalaCards integrated aliases for Cataract 16, Multiple Types:

Name: Cataract 16, Multiple Types ⁵⁸ ⁷⁶ ³⁰ ⁶ ⁷⁴

Ctrct16 ⁵⁸ ¹² ⁷⁶

Ctpp2 ⁵⁸ ¹² ⁷⁶

Cataract, Posterior Polar, 2 ⁵⁸ ⁷⁴

Posterior Polar Cataract 2 ¹² ⁷⁶

Early-Onset Posterior Polar Cataract ⁶⁰

Cataract, Posterior Polar, 2; Ctpp2 ⁵⁸

Cataract, Congenital Lamellar ⁵⁸

Congenital Lamellar Cataract ⁷⁶

Cataract, Posterior Polar 2 ¹³

Cataract 16 Multiple Types ¹²

Characteristics:

Orphanet epidemiological data:

⁶⁰

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

OMIM:

⁵⁸

Inheritance:
autosomal recessive
autosomal dominant

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

HPO:

³³

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

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Metabolic diseases
Anatomical: Eye diseases Nephrological diseases Oral diseases Neuronal diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴ ³⁵

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of eye, ear, face and neck

Congenital lens malformations

Congenital cataract

Orphanet: ⁶⁰

Rare eye diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:0110250

OMIM ⁵⁸ 613763

MeSH ⁴⁵ D002386

ICD10 ³⁴ Q12.0

ICD10 via Orphanet ³⁵ Q12.0

UMLS via Orphanet ⁷⁵ C0858617

Orphanet ⁶⁰ ORPHA98993

MedGen ⁴³ C3151065 C3552997 C3808377

SNOMED-CT via HPO ⁷⁰ 258211005 263681008 314407005 more

UMLS ⁷⁴ C3151065 C3808377

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Summaries for Cataract 16, Multiple Types

UniProtKB/Swiss-Prot : ⁷⁶ 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 ctrct16, is related to cataract and cataract 5, multiple types. An important gene associated with Cataract 16, Multiple Types is CRYAB (Crystallin Alpha B). Affiliated tissues include eye, and related phenotypes are retinal dystrophy and developmental cataract

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

OMIM : ⁵⁸ 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)

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Related Diseases for Cataract 16, 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 46, Juvenile-Onset	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 16, Multiple Types via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)

#	Related Disease	Score	Top Affiliating Genes
1	cataract	28.5	CRYAB CRYBA1 EPHA2 GJA3 MIP PITX3
2	cataract 5, multiple types	10.2
3	early-onset posterior subcapsular cataract	10.0	CHMP4B EPHA2
4	myofibrillar myopathy	9.9	CRYAB HSPB2
5	corticobasal degeneration	9.9	CRYAB HSPB2 PITX3
6	cataract 44	9.9	EPHA2 MIP
7	cataract 10, multiple types	9.8	CRYAB CRYBA1
8	cataract 25	9.7	CRYBA1 MIP
9	lens disease	9.7	CRYAB GJA3 PITX3
10	posterior polar cataract	9.2	CRYAB CRYBA1 GJA3 PITX3
11	early-onset nuclear cataract	9.0	CRYAB CRYBA1 EPHA2 GJA3 MIP

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

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Symptoms & Phenotypes for Cataract 16, Multiple Types

Human phenotypes related to Cataract 16, Multiple Types:

³³

#	Description	HPO Frequency	HPO Source Accession
1	retinal dystrophy ³³	occasional (7.5%)	HP:0000556
2	developmental cataract ³³	occasional (7.5%)	HP:0000519
3	posterior polar cataract ³³		HP:0001115

Symptoms via clinical synopsis from OMIM:

⁵⁸

Head And Neck Eyes:
cataract, congenital (in some patients)
retinal dystrophy (rare)
cataract, nuclear (in some patients)
cataract, posterior polar (in some patients)
cataract, lamellar (in some patients)
more

Clinical features from OMIM:

613763

MGI Mouse Phenotypes related to Cataract 16, Multiple Types:

⁴⁷

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	vision/eye	MP:0005391	9.1	CRYAB CRYBA1 EPHA2 GJA3 MIP PITX3

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Drugs & Therapeutics for Cataract 16, Multiple Types

Search Clinical Trials , NIH Clinical Center for Cataract 16, Multiple Types

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Genetic Tests for Cataract 16, Multiple Types

Genetic tests related to Cataract 16, Multiple Types:

#	Genetic test	Affiliating Genes
1	Cataract 16, Multiple Types ³⁰	CRYAB

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Anatomical Context for Cataract 16, Multiple Types

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

⁴²

Eye

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Publications for Cataract 16, Multiple Types

Articles related to Cataract 16, Multiple Types:

#	Title	Authors	Year
1	A novel missense mutation in HSF4 causes autosomal-dominant congenital lamellar cataract in a British family. ( 29243736 )	Berry V...Michaelides M	2018
2	An MIP/AQP0 mutation with impaired trafficking and function underlies an autosomal dominant congenital lamellar cataract. ( 23116563 )	Senthil Kumar G...Santhiya ST	2013
3	Identification of a novel CRYAB mutation associated with autosomal recessive juvenile cataract in a Saudi family. ( 19461931 )	Safieh LA...Alkuraya FS	2009
4	Identification of a CRYAB mutation associated with autosomal dominant posterior polar cataract in a Chinese family. ( 16877416 )	Liu M...Wang QK	2006
5	A novel alphaB-crystallin mutation associated with autosomal dominant congenital lamellar cataract. ( 16505043 )	Liu Y...Shang F	2006
6	Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans. ( 11577372 )	Berry V...Quinlan RA	2001

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Genes for Cataract 16, Multiple Types

Genes related to Cataract 16, Multiple Types (7 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CRYAB	Crystallin Alpha B	Protein Coding	1377.77	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Genetic Tests ³⁰ GeneCards inferred via : Disorders Variants (show sections)	11577372 16505043 16877416 (more) 19461931
2	EPHA2	EPH Receptor A2	Protein Coding	350	Causative germline mutation ⁶⁰
3	CHMP4B	Charged Multivesicular Body Protein 4B	Protein Coding	350	Causative germline mutation ⁶⁰
4	MIP	Major Intrinsic Protein Of Lens Fiber	Protein Coding	350	Causative germline mutation ⁶⁰
5	GJA3	Gap Junction Protein Alpha 3	Protein Coding	350	Causative germline mutation ⁶⁰
6	CRYBA1	Crystallin Beta A1	Protein Coding	350	Causative germline mutation ⁶⁰
7	PITX3	Paired Like Homeodomain 3	Protein Coding	350	Causative germline mutation ⁶⁰
8	HSPB2	Heat Shock Protein Family B (Small) Member 2	Protein Coding	7.99	GeneCards inferred via : Variants (show sections)
9	HSPB2-C11orf52	HSPB2-C11orf52 Readthrough (NMD Candidate)	RNA Gene	7.99	GeneCards inferred via : Variants (show sections)

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Variations for Cataract 16, Multiple Types

ClinVar genetic disease variations for Cataract 16, Multiple Types:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	CRYAB	NM_001885.2(CRYAB): c.450delA (p.Lys150Asnfs)	deletion	Pathogenic		GRCh37	Chromosome 11, 111779566: 111779566
2	CRYAB	NM_001885.2(CRYAB): c.450delA (p.Lys150Asnfs)	deletion	Pathogenic		GRCh38	Chromosome 11, 111908842: 111908842
3	CRYAB	NM_001885.2(CRYAB): c.418G> A (p.Asp140Asn)	single nucleotide variant	Pathogenic	rs387907336	GRCh37	Chromosome 11, 111779598: 111779598
4	CRYAB	NM_001885.2(CRYAB): c.418G> A (p.Asp140Asn)	single nucleotide variant	Pathogenic	rs387907336	GRCh38	Chromosome 11, 111908874: 111908874
5	CRYAB	NM_001885.2(CRYAB): c.58C> T (p.Pro20Ser)	single nucleotide variant	Pathogenic	rs387907337	GRCh37	Chromosome 11, 111782391: 111782391
6	CRYAB	NM_001885.2(CRYAB): c.58C> T (p.Pro20Ser)	single nucleotide variant	Pathogenic	rs387907337	GRCh38	Chromosome 11, 111911667: 111911667
7	CRYAB	NM_001885.2(CRYAB): c.166C> T (p.Arg56Trp)	single nucleotide variant	Pathogenic	rs387907338	GRCh37	Chromosome 11, 111782283: 111782283
8	CRYAB	NM_001885.2(CRYAB): c.166C> T (p.Arg56Trp)	single nucleotide variant	Pathogenic	rs387907338	GRCh38	Chromosome 11, 111911559: 111911559
9	CRYAB	NM_001885.2(CRYAB): c.115C> G (p.Pro39Ala)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 11, 111911610: 111911610
10	CRYAB	NM_001885.2(CRYAB): c.115C> G (p.Pro39Ala)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 11, 111782334: 111782334

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Expression for Cataract 16, Multiple Types

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

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Pathways for Cataract 16, Multiple Types

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GO Terms for Cataract 16, Multiple Types

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

#	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:

#	Name	GO ID	Score	Top Affiliating Genes
1	visual perception	GO:0007601	9.33	CRYBA1 GJA3 MIP
2	negative regulation of protein kinase B signaling	GO:0051898	9.26	CRYBA1 EPHA2
3	negative regulation of cytokine production	GO:0001818	8.96	CRYBA1 EPHA2
4	lens development in camera-type eye	GO:0002088	8.8	CRYAB CRYBA1 PITX3

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

#	Name	GO ID	Score	Top Affiliating Genes
1	structural constituent of eye lens	GO:0005212	8.8	CRYAB CRYBA1 MIP

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Sources for Cataract 16, Multiple Types

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

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¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Cataract 16, Multiple Types (CTRCT16)

Aliases & Classifications for Cataract 16, Multiple Types

MalaCards integrated aliases for Cataract 16, Multiple Types:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Cataract 16, Multiple Types

Related Diseases for Cataract 16, Multiple Types

Diseases in the Cataract family:

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

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

Symptoms & Phenotypes for Cataract 16, Multiple Types

Human phenotypes related to Cataract 16, Multiple Types:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

MGI Mouse Phenotypes related to Cataract 16, Multiple Types:

Drugs & Therapeutics for Cataract 16, Multiple Types

Genetic Tests for Cataract 16, Multiple Types

Genetic tests related to Cataract 16, Multiple Types:

Anatomical Context for Cataract 16, Multiple Types

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

Publications for Cataract 16, Multiple Types

Articles related to Cataract 16, Multiple Types:

Genes for Cataract 16, Multiple Types

Genes related to Cataract 16, Multiple Types (7 elite genes):

Variations for Cataract 16, Multiple Types

ClinVar genetic disease variations for Cataract 16, Multiple Types:

Expression 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:

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

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

Sources for Cataract 16, Multiple Types