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 ⁷⁵ ²⁹ ⁶ ⁷³

Ctrct16 ⁵⁷ ¹² ⁷⁵

Ctpp2 ⁵⁷ ¹² ⁷⁵

Cataract, Posterior Polar, 2 ⁵⁷ ⁷³

Posterior Polar Cataract 2 ¹² ⁷⁵

Early-Onset Posterior Polar Cataract ⁵⁹

Cataract, Posterior Polar, 2; Ctpp2 ⁵⁷

Cataract, Congenital Lamellar ⁵⁷

Early-Onset Lamellar Cataract ⁵⁹

Congenital Lamellar Cataract ⁷⁵

Cataract, Posterior Polar 2 ¹³

Cataract 16 Multiple Types ¹²

Characteristics:

Orphanet epidemiological data:

⁵⁹

early-onset lamellar cataract
Inheritance: Autosomal dominant;

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

OMIM:

⁵⁷

Inheritance:
autosomal dominant
autosomal recessive

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 Oral diseases Neuronal diseases Nephrological 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:

OMIM ⁵⁷ 613763

Disease Ontology ¹² DOID:0110250

ICD10 ³³ Q12.0

Orphanet ⁵⁹ ORPHA441452 ORPHA98993

ICD10 via Orphanet ³⁴ Q12.0

UMLS via Orphanet ⁷⁴ C0858617

MedGen ⁴² C3808377 C3151065 C3552997

MeSH ⁴⁴ D002386

SNOMED-CT via HPO ⁶⁹ 263681008 258211005 609587005 more

UMLS ⁷³ C3808377 C3151065

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Summaries for Cataract 16, Multiple Types

UniProtKB/Swiss-Prot : ⁷⁵ 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 corticobasal degeneration. An important gene associated with Cataract 16, Multiple Types is CRYAB (Crystallin Alpha B). Affiliated tissues include eye, and related phenotypes are congenital cataract and retinal dystrophy

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 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 21)

#	Related Disease	Score	Top Affiliating Genes
1	cataract	21.2	BFSP2 CHMP4B CRYAA CRYAB CRYBA1 CRYBA4
2	corticobasal degeneration	10.3	CRYAB HSPB2 PITX3
3	cerulean cataract	10.3	CRYGD MIP
4	cataract 10, multiple types	10.2	CRYAB CRYBA1
5	anterior segment dysgenesis 1	10.2	CRYGS PITX3
6	cataract 5, multiple types	10.1
7	early-onset posterior subcapsular cataract	10.1	CHMP4B EPHA2
8	cortical senile cataract	9.9	CRYAA EPHA2
9	cataract 30, multiple types	9.6	BFSP2 CRYGC CRYGD GJA3
10	nuclear senile cataract	9.6	CRYAA CRYGD CRYGS
11	cataract 24	9.6	CRYAA CRYGB
12	cataract 25	9.5	BFSP2 CRYBA1 CRYGS MIP
13	posterior polar cataract	9.5	CRYAB CRYBA1 CRYGD GJA3 PITX3
14	blood group, globoside system	9.3	CRYAA CRYGS
15	mature cataract	9.2	CRYAA CRYGB CRYGS MIP
16	eye accommodation disease	9.1	BFSP2 CRYAA CRYGS MIP
17	presbyopia	9.1	BFSP2 CRYAA CRYGS MIP
18	cataract microcornea syndrome	8.9	CRYAA CRYBA4 CRYGC CRYGD
19	cataract 44	8.7	CRYAA CRYGB EPHA2 HSF4 MIP
20	lens disease	8.1	CRYAA CRYAB CRYBA4 CRYGS GJA3 MIP
21	early-onset nuclear cataract	7.7	CRYAA CRYAB CRYBA1 CRYGC CRYGD EPHA2

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

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Symptoms & Phenotypes for Cataract 16, Multiple Types

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

Clinical features from OMIM:

613763

Human phenotypes related to Cataract 16, Multiple Types:

³²

#	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:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	vision/eye	MP:0005391	9.4	BFSP2 CRYAB CRYBA1 CRYGB CRYGC CRYGD

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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

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Publications for Cataract 16, Multiple Types

Articles related to Cataract 16, Multiple Types:

#	Title	Authors	Year
1	An MIP/AQP0 mutation with impaired trafficking and function underlies an autosomal dominant congenital lamellar cataract. ( 23116563 )	Senthil Kumar G....Santhiya S.T.	2013
2	A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts. ( 18958306 )	Ma X....Zhu S.Q.	2008
3	A novel alphaB-crystallin mutation associated with autosomal dominant congenital lamellar cataract. ( 16505043 )	Liu Y....Shang F.	2006

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Genes for Cataract 16, Multiple Types

Genes related to Cataract 16, Multiple Types (15 elite genes):

(show all 17)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CRYAB	Crystallin Alpha B	Protein Coding	1377.94	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	11577372 16505043 16877416 (more) 19461931
2	CRYGS	Crystallin Gamma S	Protein Coding	350	Causative germline mutation ⁵⁹
3	CRYGD	Crystallin Gamma D	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	PITX3	Paired Like Homeodomain 3	Protein Coding	350	Causative germline mutation ⁵⁹
7	MIP	Major Intrinsic Protein Of Lens Fiber	Protein Coding	350	Causative germline mutation ⁵⁹
8	HSF4	Heat Shock Transcription Factor 4	Protein Coding	350	Causative germline mutation ⁵⁹
9	CRYGC	Crystallin Gamma C	Protein Coding	350	Causative germline mutation ⁵⁹
10	CRYGB	Crystallin Gamma B	Protein Coding	350	Causative germline mutation ⁵⁹
11	BFSP2	Beaded Filament Structural Protein 2	Protein Coding	350	Causative germline mutation ⁵⁹
12	CRYBA4	Crystallin Beta A4	Protein Coding	350	Causative germline mutation ⁵⁹
13	CHMP4B	Charged Multivesicular Body Protein 4B	Protein Coding	350	Causative germline mutation ⁵⁹
14	CRYAA	Crystallin Alpha A	Protein Coding	350	Causative germline mutation ⁵⁹
15	CRYBA1	Crystallin Beta A1	Protein Coding	350	Causative germline mutation ⁵⁹
16	HSPB2-C11orf52	HSPB2-C11orf52 Readthrough (NMD Candidate)	RNA Gene	8.09	GeneCards inferred via : Variants (show sections)
17	HSPB2	Heat Shock Protein Family B (Small) Member 2	Protein Coding	8.09	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	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.418G> A (p.Asp140Asn)	single nucleotide variant	Pathogenic	rs387907336	GRCh38	Chromosome 11, 111908874: 111908874
4	CRYAB	NM_001885.2(CRYAB): c.58C> T (p.Pro20Ser)	single nucleotide variant	Pathogenic	rs387907337	GRCh37	Chromosome 11, 111782391: 111782391
5	CRYAB	NM_001885.2(CRYAB): c.58C> T (p.Pro20Ser)	single nucleotide variant	Pathogenic	rs387907337	GRCh38	Chromosome 11, 111911667: 111911667
6	CRYAB	NM_001885.2(CRYAB): c.166C> T (p.Arg56Trp)	single nucleotide variant	Pathogenic	rs387907338	GRCh37	Chromosome 11, 111782283: 111782283
7	CRYAB	NM_001885.2(CRYAB): c.166C> T (p.Arg56Trp)	single nucleotide variant	Pathogenic	rs387907338	GRCh38	Chromosome 11, 111911559: 111911559

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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	response to stimulus	GO:0050896	9.76	BFSP2 CRYAA CRYGD MIP
2	protein homooligomerization	GO:0051260	9.62	CHMP4B CRYAA CRYAB HSF4
3	camera-type eye development	GO:0043010	9.54	CRYAB CRYBA4 HSF4
4	lens development in camera-type eye	GO:0002088	9.5	CRYAB CRYBA1 CRYGB CRYGD CRYGS MIP
5	lens fiber cell differentiation	GO:0070306	9.43	CRYGD PITX3
6	lens fiber cell development	GO:0070307	9.4	BFSP2 CRYGB
7	visual perception	GO:0007601	9.32	BFSP2 CRYAA CRYBA1 CRYBA4 CRYGB CRYGC
8	lens fiber cell morphogenesis	GO:0070309	9.26	CRYGB EPHA2
9	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:

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

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Sources for Cataract 16, Multiple Types

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

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¹⁰ dbSNP

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²⁰ GeneAnalytics

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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 SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia