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 ⁵⁷ ⁷⁴ ²⁹ ⁶ ⁷²

Ctrct16 ⁵⁷ ¹² ⁷⁴

Ctpp2 ⁵⁷ ¹² ⁷⁴

Cataract, Posterior Polar, 2 ⁵⁷ ⁷²

Posterior Polar Cataract 2 ¹² ⁷⁴

Early-Onset Posterior Polar Cataract ⁵⁹

Cataract, Posterior Polar, 2; Ctpp2 ⁵⁷

Cataract, Congenital Lamellar ⁵⁷

Congenital Lamellar Cataract ⁷⁴

Cataract, Posterior Polar 2 ¹³

Cataract 16 Multiple Types ¹²

Characteristics:

Orphanet epidemiological data:

⁵⁹

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

OMIM:

⁵⁷

Inheritance:
autosomal recessive
autosomal dominant

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

HPO:

³²

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 Neuronal diseases Oral diseases

See all MalaCards categories (disease lists)

ICD10: ³³ ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of eye, ear, face and neck

Congenital lens malformations

Congenital cataract

Orphanet: ⁵⁹

Rare eye diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:0110250

OMIM ⁵⁷ 613763 PS116200

MeSH ⁴⁴ D002386

ICD10 ³³ Q12.0

ICD10 via Orphanet ³⁴ Q12.0

UMLS via Orphanet ⁷³ C0858617

Orphanet ⁵⁹ ORPHA98993

MedGen ⁴² C3151065 C3552997 C3808377

UMLS ⁷² C3151065 C3808377

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Summaries for Cataract 16, Multiple Types

UniProtKB/Swiss-Prot : ⁷⁴ 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 : ⁵⁷ 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 15)

#	Related Disease	Score	Top Affiliating Genes
1	cataract	27.0	PITX3 MIP GJA3 EPHA2 CRYBA1 CRYAB
2	cataract 5, multiple types	10.1
3	cataract 10, multiple types	10.0	CRYBA1 CRYAB
4	yemenite deaf-blind hypopigmentation syndrome	10.0
5	early-onset zonular cataract	10.0
6	early-onset non-syndromic cataract	10.0
7	early-onset partial cataract	10.0
8	early-onset posterior subcapsular cataract	10.0	EPHA2 CHMP4B
9	myofibrillar myopathy	9.8	HSPB2 CRYAB
10	corticobasal degeneration	9.8	PITX3 HSPB2 CRYAB
11	cataract 25	9.6	MIP CRYBA1
12	lens disease	9.5	PITX3 GJA3 CRYAB
13	cataract 44	9.4	MIP EPHA2
14	posterior polar cataract	9.1	PITX3 GJA3 CRYBA1 CRYAB
15	early-onset nuclear cataract	8.4	MIP GJA3 EPHA2 CRYBA1 CRYAB

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:

³²

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

Symptoms via clinical synopsis from OMIM:

⁵⁷

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:

⁴⁶

#	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 ²⁹	CRYAB

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Anatomical Context for Cataract 16, Multiple Types

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

⁴¹

Eye

Sources

Publications for Cataract 16, Multiple Types

Articles related to Cataract 16, Multiple Types:

(show all 15)

#	Title	Authors	PMID	Year
1	A novel alphaB-crystallin mutation associated with autosomal dominant congenital lamellar cataract. ³⁸ ⁸ ⁷¹	Liu Y...Shang F	16505043	2006
2	Identification of a novel CRYAB mutation associated with autosomal recessive juvenile cataract in a Saudi family. ⁸ ⁷¹	Safieh LA...Alkuraya FS	19461931	2009
3	Identification of a CRYAB mutation associated with autosomal dominant posterior polar cataract in a Chinese family. ⁸ ⁷¹	Liu M...Wang QK	16877416	2006
4	Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans. ⁸ ⁷¹	Berry V...Quinlan RA	11577372	2001
5	Whole-genome sequencing reveals a recurrent missense mutation in the Connexin 46 (GJA3) gene causing autosomal-dominant lamellar cataract. ³⁸	Berry V...Michaelides M	29934635	2018
6	A novel missense mutation in HSF4 causes autosomal-dominant congenital lamellar cataract in a British family. ³⁸	Berry V...Michaelides M	29243736	2018
7	[Congenital lamellar cataract]. ³⁸	Tijani M...Cherkaoui O	28506473	2017
8	Congenital lamellar cataract. ³⁸	Gerth-Kahlert C...Gautschy U	25032728	2014
9	An MIP/AQP0 mutation with impaired trafficking and function underlies an autosomal dominant congenital lamellar cataract. ³⁸	Senthil Kumar G...Santhiya ST	23116563	2013
10	Intraocular lens opacification mimicking the appearance of a congenital lamellar cataract. ³⁸	Patel C...Saleh GM	22935667	2012
11	A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts. ³⁸	Ma X...Zhu SQ	18958306	2008
12	Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene, TMEM114, expressed in the lens and disrupted by the translocation. ³⁸	Jamieson RV...Black GC	17492639	2007
13	Mutation causing self-aggregation in human gammaC-crystallin leading to congenital cataract. ³⁸	Talla V...Balasubramanian D	17122105	2006
14	Central compaction in the process of lens growth as indicated by lamellar cataract. ³⁸	Brown NA...Bron AJ	3415946	1988
15	[Hereditary congenital lamellar cataract, a case report (author's transl)]. ³⁸	Chang RK	121723	1979

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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	1377.99	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	16505043 11577372 16877416 (more) 19461931
2	CHMP4B	Charged Multivesicular Body Protein 4B	Protein Coding	350	Causative germline mutation ⁵⁹
3	CRYBA1	Crystallin Beta A1	Protein Coding	350	Causative germline mutation ⁵⁹
4	EPHA2	EPH Receptor A2	Protein Coding	350	Causative germline mutation ⁵⁹
5	GJA3	Gap Junction Protein Alpha 3	Protein Coding	350	Causative germline mutation ⁵⁹
6	MIP	Major Intrinsic Protein Of Lens Fiber	Protein Coding	350	Causative germline mutation ⁵⁹
7	PITX3	Paired Like Homeodomain 3	Protein Coding	350	Causative germline mutation ⁵⁹
8	HSPB2	Heat Shock Protein Family B (Small) Member 2	Protein Coding	8.17	GeneCards inferred via : Variants (show sections)
9	HSPB2-C11orf52	HSPB2-C11orf52 Readthrough (NMD Candidate)	RNA Gene	8.17	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	GRCh37 Pos	GRCh38 Pos
1	CRYAB	NM_001885.3(CRYAB): c.450del (p.Lys150fs)	deletion	Pathogenic		11:111779566-111779566	11:111908842-111908842
2	CRYAB	NM_001885.3(CRYAB): c.166C> T (p.Arg56Trp)	single nucleotide variant	Pathogenic	rs387907338	11:111782283-111782283	11:111911559-111911559
3	CRYAB	NM_001885.3(CRYAB): c.58C> T (p.Pro20Ser)	single nucleotide variant	Pathogenic	rs387907337	11:111782391-111782391	11:111911667-111911667
4	CRYAB	NM_001885.3(CRYAB): c.418G> A (p.Asp140Asn)	single nucleotide variant	Pathogenic	rs387907336	11:111779598-111779598	11:111908874-111908874
5	CRYAB	NM_001885.3(CRYAB): c.115C> G (p.Pro39Ala)	single nucleotide variant	Uncertain significance		11:111782334-111782334	11:111911610-111911610

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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	MIP GJA3

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	MIP GJA3 CRYBA1
2	negative regulation of protein kinase B signaling	GO:0051898	9.26	EPHA2 CRYBA1
3	negative regulation of cytokine production	GO:0001818	8.96	EPHA2 CRYBA1
4	lens development in camera-type eye	GO:0002088	8.92	PITX3 MIP CRYBA1 CRYAB

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	MIP CRYBA1 CRYAB

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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

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ TGDB

⁷¹ Tocris

⁷² UMLS

⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ 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