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 ⁵⁶ ⁷³ ²⁹ ⁶ ⁷¹

Ctrct16 ⁵⁶ ¹² ⁷³

Ctpp2 ⁵⁶ ¹² ⁷³

Cataract, Posterior Polar, 2 ⁵⁶ ⁷¹

Cataract 16 Multiple Types ¹² ¹⁵

Posterior Polar Cataract 2 ¹² ⁷³

Cataract, Posterior Polar, 2; Ctpp2 ⁵⁶

Cataract, Congenital Lamellar ⁵⁶

Congenital Lamellar Cataract ⁷³

Cataract, Posterior Polar 2 ¹³

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal recessive
autosomal dominant

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

HPO:

³¹

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

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³²

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of eye, ear, face and neck

Congenital lens malformations

Congenital cataract

External Ids:

Disease Ontology ¹² DOID:0110250

OMIM ⁵⁶ 613763

OMIM Phenotypic Series ⁵⁶ PS116200

MeSH ⁴³ D002386

ICD10 ³² Q12.0

MedGen ⁴¹ C3151065 C3552997 C3808377

SNOMED-CT via HPO ⁶⁸ 258211005 263681008 314407005 more

UMLS ⁷¹ C3151065 C3808377

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Summaries for Cataract 16, Multiple Types

UniProtKB/Swiss-Prot : ⁷³ 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 early-onset posterior polar cataract and cataract. An important gene associated with Cataract 16, Multiple Types is CRYAB (Crystallin Alpha B), and among its related pathways/superpathways are Protein processing in endoplasmic reticulum and Autophagy Pathway. Affiliated tissues include eye, and related phenotypes are developmental 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 : ⁵⁶ 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 25)

#	Related Disease	Score	Top Affiliating Genes
1	early-onset posterior polar cataract	29.3	CRYBA1 CRYAB CHMP4B
2	cataract	28.2	TMEM114 CRYBA1 CRYAB CRYAA CHMP4B
3	cataract 5, multiple types	10.0
4	yemenite deaf-blind hypopigmentation syndrome	10.0
5	myopia	10.0
6	early-onset zonular cataract	10.0
7	early-onset non-syndromic cataract	10.0
8	early-onset partial cataract	10.0
9	alexander disease	9.9	CRYAB CRYAA
10	leukocoria	9.9	CRYBA1 CRYAA
11	galactokinase deficiency	9.9	TMEM114 CRYAA
12	amblyopia	9.9	CRYAA CHMP4B
13	nance-horan syndrome	9.8	CRYBA1 CRYAA
14	myofibrillar myopathy	9.8	CRYAB CRYAA
15	aniridia 1	9.7	CRYBA1 CRYAA
16	early-onset lamellar cataract	9.6	CRYBA1 CRYAB CRYAA
17	intraocular pressure quantitative trait locus	9.6	CRYAB CRYAA
18	early-onset nuclear cataract	9.6	CRYBA1 CRYAB CRYAA
19	lens disease	9.6	CRYBA1 CRYAB CRYAA
20	disuse amblyopia	9.2	CRYAA CHMP4B CHMP4A
21	posterior polar cataract	9.2	CRYBA1 CRYAB CRYAA CHMP4B
22	cataract 31, multiple types	8.9	CRYBA1 CRYAA CHMP4B CHMP4A
23	cataract 32, multiple types	8.5	TMEM114 CRYBA1 CRYAA CHMP4B CHMP4A
24	cataract 11, multiple types	8.5	TMEM114 CRYBA1 CRYAA CHMP4B CHMP4A
25	cataract 6, multiple types	8.5	TMEM114 CRYBA1 CRYAA CHMP4B CHMP4A

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:

³¹

#	Description	HPO Frequency	HPO Source Accession
1	developmental cataract ³¹	occasional (7.5%)	HP:0000519
2	retinal dystrophy ³¹	occasional (7.5%)	HP:0000556
3	posterior polar cataract ³¹		HP:0001115

Symptoms via clinical synopsis from OMIM:

⁵⁶

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

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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:

⁴⁰

Eye

Sources

Publications for Cataract 16, Multiple Types

Articles related to Cataract 16, Multiple Types:

(show all 16)

#	Title	Authors	PMID	Year
1	A novel alphaB-crystallin mutation associated with autosomal dominant congenital lamellar cataract. ⁶¹ ⁵⁶ ⁶	Liu Y...Shang F	16505043	2006
2	Identification of a novel CRYAB mutation associated with autosomal recessive juvenile cataract in a Saudi family. ⁵⁶ ⁶	Safieh LA...Alkuraya FS	19461931	2009
3	Identification of a CRYAB mutation associated with autosomal dominant posterior polar cataract in a Chinese family. ⁵⁶ ⁶	Liu M...Wang QK	16877416	2006
4	Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans. ⁵⁶ ⁶	Berry V...Quinlan RA	11577372	2001
5	Clinical characteristics and genome wide linkage study of congenital lamellar cataract and myopia in a Chinese family. ⁶¹	Liu Q...Zhu S	32010934	2020
6	Whole-genome sequencing reveals a recurrent missense mutation in the Connexin 46 (GJA3) gene causing autosomal-dominant lamellar cataract. ⁶¹	Berry V...Michaelides M	29934635	2018
7	A novel missense mutation in HSF4 causes autosomal-dominant congenital lamellar cataract in a British family. ⁶¹	Berry V...Michaelides M	29243736	2018
8	[Congenital lamellar cataract]. ⁶¹	Tijani M...Cherkaoui O	28506473	2017
9	Congenital lamellar cataract. ⁶¹	Gerth-Kahlert C...Gautschy U	25032728	2014
10	An MIP/AQP0 mutation with impaired trafficking and function underlies an autosomal dominant congenital lamellar cataract. ⁶¹	Senthil Kumar G...Santhiya ST	23116563	2013
11	Intraocular lens opacification mimicking the appearance of a congenital lamellar cataract. ⁶¹	Patel C...Saleh GM	22935667	2012
12	A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts. ⁶¹	Ma X...Zhu SQ	18958306	2008
13	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. ⁶¹	Jamieson RV...Black GC	17492639	2007
14	Mutation causing self-aggregation in human gammaC-crystallin leading to congenital cataract. ⁶¹	Talla V...Balasubramanian D	17122105	2006
15	Central compaction in the process of lens growth as indicated by lamellar cataract. ⁶¹	Brown NA...Bron AJ	3415946	1988
16	[Hereditary congenital lamellar cataract, a case report (author's transl)]. ⁶¹	Chang RK	121723	1979

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Genes for Cataract 16, Multiple Types

Genes related to Cataract 16, Multiple Types (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CRYAB	Crystallin Alpha B	Protein Coding	1024.59	Molecular basis known ⁵⁶ Pathogenic ⁶ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	11577372 19461931 16505043 (more) 16877416
2	CRYAA	Crystallin Alpha A	Protein Coding	13.2	DISEASES inferred ¹⁵ ¹⁵
3	CRYBA1	Crystallin Beta A1	Protein Coding	6.72	DISEASES inferred ¹⁵
4	CHMP4B	Charged Multivesicular Body Protein 4B	Protein Coding	6.59	DISEASES inferred ¹⁵
5	CHMP4A	Charged Multivesicular Body Protein 4A	Protein Coding	6.49	DISEASES inferred ¹⁵
6	TMEM114	Transmembrane Protein 114	Protein Coding	6.11	DISEASES inferred ¹⁵

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Variations for Cataract 16, Multiple Types

ClinVar genetic disease variations for Cataract 16, Multiple Types:

⁶ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	CRYAB	NM_001289808.2(CRYAB):c.450del (p.Lys150fs)	deletion	Pathogenic	16954	rs1566402656	11:111779566-111779566	11:111908842-111908842
2	CRYAB	NM_001289808.2(CRYAB):c.166C>T (p.Arg56Trp)	SNV	Pathogenic	41929	rs387907338	11:111782283-111782283	11:111911559-111911559
3	CRYAB	NM_001289808.2(CRYAB):c.418G>A (p.Asp140Asn)	SNV	Pathogenic	41927	rs387907336	11:111779598-111779598	11:111908874-111908874
4	CRYAB	NM_001289808.2(CRYAB):c.58C>T (p.Pro20Ser)	SNV	Pathogenic	41928	rs387907337	11:111782391-111782391	11:111911667-111911667
5	CRYAB	NM_001289808.2(CRYAB):c.115C>G (p.Pro39Ala)	SNV	Uncertain significance	571646	rs145768025	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

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

#	Super pathways	Score	Top Affiliating Genes
1	Protein processing in endoplasmic reticulum ³⁶	11.38	CRYAB CRYAA
2	Autophagy Pathway ⁶⁴ Show member pathways Autophagy - other ³⁶ Macroautophagy ⁶⁵ Nanoparticle triggered autophagic cell death ¹	11.13	CHMP4B CHMP4A
3	Budding and maturation of HIV virion ⁶⁵ Show member pathways Endosomal Sorting Complex Required For Transport (ESCRT) ⁶⁵ Membrane binding and targetting of GAG proteins ⁶⁵ Synthesis And Processing Of GAG, GAGPOL Polyproteins ⁶⁵	10.5	CHMP4B CHMP4A

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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	midbody	GO:0030496	9.32	CHMP4B CHMP4A
2	late endosome membrane	GO:0031902	9.26	CHMP4B CHMP4A
3	cytoplasmic side of plasma membrane	GO:0009898	9.16	CHMP4B CHMP4A
4	membrane coat	GO:0030117	8.96	CHMP4B CHMP4A
5	ESCRT III complex	GO:0000815	8.62	CHMP4B CHMP4A

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

(show all 15)

#	Name	GO ID	Score	Top Affiliating Genes
1	macroautophagy	GO:0016236	9.55	CHMP4B CHMP4A
2	endosomal transport	GO:0016197	9.54	CHMP4B CHMP4A
3	negative regulation of neuron death	GO:1901215	9.52	CHMP4B CHMP4A
4	lens development in camera-type eye	GO:0002088	9.51	CRYBA1 CRYAB
5	mitotic metaphase plate congression	GO:0007080	9.49	CHMP4B CHMP4A
6	multivesicular body assembly	GO:0036258	9.48	CHMP4B CHMP4A
7	viral life cycle	GO:0019058	9.46	CHMP4B CHMP4A
8	nucleus organization	GO:0006997	9.43	CHMP4B CHMP4A
9	viral budding via host ESCRT complex	GO:0039702	9.4	CHMP4B CHMP4A
10	midbody abscission	GO:0061952	9.37	CHMP4B CHMP4A
11	vacuolar transport	GO:0007034	9.32	CHMP4B CHMP4A
12	negative regulation of autophagosome assembly	GO:1902902	9.26	CHMP4B CHMP4A
13	posttranslational protein targeting to endoplasmic reticulum membrane	GO:0006620	9.16	CHMP4B CHMP4A
14	negative regulation of intracellular transport	GO:0032387	8.96	CRYAB CRYAA
15	protein homooligomerization	GO:0051260	8.92	CRYAB CRYAA CHMP4B CHMP4A

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

#	Name	GO ID	Score	Top Affiliating Genes
1	identical protein binding	GO:0042802	9.26	CRYAB CRYAA CHMP4B CHMP4A
2	unfolded protein binding	GO:0051082	9.16	CRYAB CRYAA
3	structural constituent of eye lens	GO:0005212	8.8	CRYBA1 CRYAB CRYAA

Sources

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 HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Cataract 16, Multiple Types (CTRCT16)

Aliases & Classifications for Cataract 16, Multiple Types

MalaCards integrated aliases for Cataract 16, Multiple Types:

Characteristics:

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:

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 (1 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

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

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