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 ⁷³ ⁷¹

Cataract 16 Multiple Types ¹¹ ²⁸ ⁵ ¹⁴

Ctrct16 ⁵⁷ ¹¹ ⁷³

Ctpp2 ⁵⁷ ¹¹ ⁷³

Cataract, Posterior Polar, 2 ⁵⁷ ⁷¹

Posterior Polar Cataract 2 ¹¹ ⁷³

Cataract, Congenital Lamellar ⁵⁷

Congenital Lamellar Cataract ⁷³

Characteristics:

Inheritance:

Autosomal dominant ⁵⁷

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

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

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³¹

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of eye, ear, face and neck

Congenital lens malformations

Congenital cataract

External Ids:

Disease Ontology ¹¹ DOID:0110250

OMIM® ⁵⁷ 613763

OMIM Phenotypic Series ⁵⁷ PS116200

MeSH ⁴³ D002386

ICD10 ³¹ Q12.0

MedGen ⁴⁰ C3151065 C3552997 C3808377

SNOMED-CT via HPO ⁶⁹ 314407005 609587005 79410001

UMLS ⁷¹ C3151065 C3808377

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Summaries for Cataract 16, Multiple Types

UniProtKB/Swiss-Prot: ⁷³ 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 cataract 16 multiple types, is related to cataract and contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a. An important gene associated with Cataract 16, Multiple Types is CRYAB (Crystallin Alpha B), and among its related pathways/superpathways is Budding and maturation of HIV virion. Affiliated tissues include eye, skeletal muscle and heart, and related phenotypes are retinal dystrophy and developmental cataract

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) (Updated 08-Dec-2022)

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

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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 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 49	Cataract 30
Cataract 33	Cataract Congenital Autosomal Dominant

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

(show all 31)

#	Related Disease	Score	Top Affiliating Genes
1	cataract	29.6	CRYBA1 CRYAB CRYAA CHMP4B
2	contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a	10.2
3	neuronopathy, distal hereditary motor, type iic	10.0	CRYAB CRYAA
4	presbyopia	10.0	CRYAB CRYAA
5	myopathy, myofibrillar, 2	10.0	CRYAB CRYAA
6	cataract 9, multiple types	10.0
7	myopia	10.0
8	distal hereditary motor neuronopathy type 2	10.0	CRYAB CRYAA
9	alexander disease	9.9	CRYAB CRYAA
10	ullrich congenital muscular dystrophy 1	9.9	CRYAA COL12A1
11	amblyopia	9.9	CRYBA1 CRYAA
12	bethlem myopathy 1	9.9	CRYAA COL12A1
13	axenfeld-rieger syndrome, type 3	9.9	CRYBA1 CRYAA
14	myofibrillar myopathy	9.9	CRYAB CRYAA
15	nance-horan syndrome	9.9	CRYBA1 CRYAA
16	persistent hyperplastic primary vitreous	9.9	CRYBA1 CRYAA
17	esotropia	9.9	CRYBA1 CRYAA
18	deprivation amblyopia	9.8	CRYAA CHMP4B
19	aniridia 1	9.8	CRYBA1 CRYAA
20	intraocular pressure quantitative trait locus	9.8	CRYAB CRYAA
21	ayme-gripp syndrome	9.8	CRYAA CHMP4B
22	early-onset lamellar cataract	9.7	CRYBA1 CRYAB CRYAA
23	early-onset nuclear cataract	9.7	CRYBA1 CRYAB CRYAA
24	lens disease	9.7	CRYBA1 CRYAB CRYAA
25	anterior segment dysgenesis	9.6	CRYAA CHMP4B
26	early-onset posterior polar cataract	9.6	CRYBA1 CRYAB CHMP4B
27	fundus dystrophy	9.4	CRYBA1 CRYAB CRYAA
28	posterior polar cataract	9.3	CRYBA1 CRYAB CRYAA CHMP4B
29	cataract 32, multiple types	9.2	CRYBA1 CRYAA CHMP4B CHMP4A
30	cataract 31, multiple types	9.2	CRYBA1 CRYAA CHMP4B CHMP4A
31	cataract 11, multiple types	9.2	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:

³⁰

#	Description	HPO Frequency	HPO Source Accession
1	retinal dystrophy ³⁰	Occasional (7.5%)	HP:0000556
2	developmental cataract ³⁰	Occasional (7.5%)	HP:0000519
3	posterior polar cataract ³⁰		HP:0001115

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

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 (Updated 08-Dec-2022)

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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 ²⁸	CRYAB

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Anatomical Context for Cataract 16, Multiple Types

Organs/tissues related to Cataract 16, Multiple Types:

MalaCards : Eye, Skeletal Muscle, Heart

ODiseA: Eye, Skeletal Muscle, Heart

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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. ⁶² ⁵⁷ ⁵	Liu Y...Shang F	16505043	2006
2	Identification of a novel CRYAB mutation associated with autosomal recessive juvenile cataract in a Saudi family. ⁵⁷ ⁵	Safieh LA...Alkuraya FS	19461931	2009
3	Identification of a CRYAB mutation associated with autosomal dominant posterior polar cataract in a Chinese family. ⁵⁷ ⁵	Liu M...Wang QK	16877416	2006
4	Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans. ⁵⁷ ⁵	Berry V...Quinlan RA	11577372	2001
5	Clinical characteristics of congenital lamellar cataract and myopia in a Chinese family. ⁶²	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. ⁶²	Berry V...Michaelides M	29934635	2018
7	A novel missense mutation in HSF4 causes autosomal-dominant congenital lamellar cataract in a British family. ⁶²	Berry V...Michaelides M	29243736	2018
8	[Congenital lamellar cataract]. ⁶²	Tijani M...Cherkaoui O	28506473	2017
9	Congenital lamellar cataract. ⁶²	Gerth-Kahlert C...Gautschy U	25032728	2014
10	An MIP/AQP0 mutation with impaired trafficking and function underlies an autosomal dominant congenital lamellar cataract. ⁶²	Senthil Kumar G...Santhiya ST	23116563	2013
11	Intraocular lens opacification mimicking the appearance of a congenital lamellar cataract. ⁶²	Patel C...Saleh GM	22935667	2012
12	A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts. ⁶²	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. ⁶²	Jamieson RV...Black GC	17492639	2007
14	Mutation causing self-aggregation in human gammaC-crystallin leading to congenital cataract. ⁶²	Talla V...Balasubramanian D	17122105	2006
15	Central compaction in the process of lens growth as indicated by lamellar cataract. ⁶²	Brown NA...Bron AJ	3415946	1988
16	[Hereditary congenital lamellar cataract, a case report (author's transl)]. ⁶²	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	PubMed IDs
1	CRYAB	Crystallin Alpha B	Protein Coding	1039.19	Molecular basis known ⁵⁷ Pathogenic ⁵ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)	11577372 16505043 16877416 (more) 19461931
2	COL12A1	Collagen Type XII Alpha 1 Chain	Protein Coding	25	Likely pathogenic ⁵
3	CRYAA	Crystallin Alpha A	Protein Coding	12.47	DISEASES inferred ¹⁴ ¹⁴
4	CRYBA1	Crystallin Beta A1	Protein Coding	6.36	DISEASES inferred ¹⁴
5	CHMP4B	Charged Multivesicular Body Protein 4B	Protein Coding	6	DISEASES inferred ¹⁴
6	CHMP4A	Charged Multivesicular Body Protein 4A	Protein Coding	5.86	DISEASES inferred ¹⁴

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Variations for Cataract 16, Multiple Types

ClinVar genetic disease variations for Cataract 16, Multiple Types:

⁵ (show all 23)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	CRYAB	NM_001289808.2(CRYAB):c.450del (p.Lys150fs)	DEL	Pathogenic	16954	rs1566402656	GRCh37: 11:111779566-111779566 GRCh38: 11:111908842-111908842
2	CRYAB	NM_001289808.2(CRYAB):c.418G>A (p.Asp140Asn)	SNV	Pathogenic	41927	rs387907336	GRCh37: 11:111779598-111779598 GRCh38: 11:111908874-111908874
3	CRYAB	NM_001289808.2(CRYAB):c.58C>T (p.Pro20Ser)	SNV	Pathogenic	41928	rs387907337	GRCh37: 11:111782391-111782391 GRCh38: 11:111911667-111911667
4	CRYAB	NM_001289808.2(CRYAB):c.166C>T (p.Arg56Trp)	SNV	Pathogenic	41929	rs387907338	GRCh37: 11:111782283-111782283 GRCh38: 11:111911559-111911559
5	CRYAB	NM_001289808.2(CRYAB):c.525del (p.Lys175fs)	DEL	Likely Pathogenic	1184448		GRCh37: 11:111779491-111779491 GRCh38: 11:111908767-111908767
6	COL12A1	NM_004370.6(COL12A1):c.5467G>A (p.Val1823Ile)	SNV	Likely Pathogenic	475877	rs201408175	GRCh37: 6:75844499-75844499 GRCh38: 6:75134783-75134783
7	CRYAB	NM_001289808.2(CRYAB):c.148C>T (p.Arg50Trp)	SNV	Uncertain Significance	1486651		GRCh37: 11:111782301-111782301 GRCh38: 11:111911577-111911577
8	CRYAB	NM_001289808.2(CRYAB):c.*60G>A	SNV	Uncertain Significance	877466	rs540926728	GRCh37: 11:111779428-111779428 GRCh38: 11:111908704-111908704
9	CRYAB	NM_001289808.2(CRYAB):c.482T>C (p.Ile161Thr)	SNV	Uncertain Significance	810752	rs1592506005	GRCh37: 11:111779534-111779534 GRCh38: 11:111908810-111908810
10	CRYAB	NM_001289808.2(CRYAB):c.176G>A (p.Ser59Asn)	SNV	Uncertain Significance	879070	rs1555165546	GRCh37: 11:111782273-111782273 GRCh38: 11:111911549-111911549
11	CRYAB	NM_001289808.2(CRYAB):c.375A>C (p.Pro125=)	SNV	Uncertain Significance	302431	rs886047687	GRCh37: 11:111779641-111779641 GRCh38: 11:111908917-111908917
12	CRYAB	NM_001289808.2(CRYAB):c.102G>T (p.Glu34Asp)	SNV	Uncertain Significance	302432	rs886047688	GRCh37: 11:111782347-111782347 GRCh38: 11:111911623-111911623
13	CRYAB	NM_001289808.2(CRYAB):c.*107A>G	SNV	Uncertain Significance	302428	rs886047686	GRCh37: 11:111779381-111779381 GRCh38: 11:111908657-111908657
14	CRYAB	NM_001289808.2(CRYAB):c.115C>G (p.Pro39Ala)	SNV	Uncertain Significance	571646	rs145768025	GRCh37: 11:111782334-111782334 GRCh38: 11:111911610-111911610
15	CRYAB	NM_001289808.2(CRYAB):c.10G>A (p.Ala4Thr)	SNV	Uncertain Significance	931448	rs1264081192	GRCh37: 11:111782439-111782439 GRCh38: 11:111911715-111911715
16	CRYAB	NM_001289808.2(CRYAB):c.-21C>T	SNV	Likely Benign	302433	rs376222434	GRCh37: 11:111782469-111782469 GRCh38: 11:111911745-111911745
17	CRYAB	NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser)	SNV	Likely Benign	41926	rs150516929	GRCh37: 11:111779556-111779556 GRCh38: 11:111908832-111908832
18	CRYAB	NM_001289808.2(CRYAB):c.60C>T (p.Pro20=)	SNV	Benign	44239	rs4252582	GRCh37: 11:111782389-111782389 GRCh38: 11:111911665-111911665
19	CRYAB	NM_001289808.2(CRYAB):c.165G>A (p.Leu55=)	SNV	Benign	44233	rs2228387	GRCh37: 11:111782284-111782284 GRCh38: 11:111911560-111911560
20	CRYAB	NM_001289808.2(CRYAB):c.152C>T (p.Pro51Leu)	SNV	Benign	44232	rs2234704	GRCh37: 11:111782297-111782297 GRCh38: 11:111911573-111911573
21	CRYAB	NM_001289808.2(CRYAB):c.324+4T>G	SNV	Benign	44234	rs11603779	GRCh37: 11:111781047-111781047 GRCh38: 11:111910323-111910323
22	CRYAB	NM_001289808.2(CRYAB):c.116C>T (p.Pro39Leu)	SNV	Benign	178013	rs149787233	GRCh37: 11:111782333-111782333 GRCh38: 11:111911609-111911609
23	CRYAB	NM_001289808.2(CRYAB):c.*38G>C	SNV	Benign	302430	rs781853968	GRCh37: 11:111779450-111779450 GRCh38: 11:111908726-111908726

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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	Budding and maturation of HIV virion ⁶⁶ Show member pathways Chaperone Mediated Autophagy ⁶⁶ Endosomal Sorting Complex Required For Transport (ESCRT) ⁶⁶ Late endosomal microautophagy ⁶⁶ Membrane binding and targetting of GAG proteins ⁶⁶ Synthesis And Processing Of GAG, GAGPOL Polyproteins ⁶⁶	10.79	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	cytoplasmic side of plasma membrane	GO:0009898	9.73	CHMP4B CHMP4A
2	autophagosome membrane	GO:0000421	9.71	CHMP4B CHMP4A
3	multivesicular body	GO:0005771	9.67	CHMP4B CHMP4A
4	multivesicular body membrane	GO:0032585	9.62	CHMP4B CHMP4A
5	kinetochore microtubule	GO:0005828	9.56	CHMP4B CHMP4A
6	membrane coat	GO:0030117	9.46	CHMP4B CHMP4A
7	amphisome membrane	GO:1904930	9.26	CHMP4B CHMP4A
8	ESCRT III complex	GO:0000815	8.92	CHMP4B CHMP4A

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

(show all 29)

#	Name	GO ID	Score	Top Affiliating Genes
1	macroautophagy	GO:0016236	9.94	CHMP4B CHMP4A
2	negative regulation of neuron death	GO:1901215	9.94	CHMP4B CHMP4A
3	response to heat	GO:0009408	9.93	CRYAB CRYAA
4	autophagosome maturation	GO:0097352	9.92	CHMP4B CHMP4A
5	mitotic metaphase plate congression	GO:0007080	9.92	CHMP4B CHMP4A
6	membrane fission	GO:0090148	9.91	CHMP4B CHMP4A
7	ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	GO:0043162	9.91	CHMP4A CHMP4B
8	multivesicular body assembly	GO:0036258	9.9	CHMP4B CHMP4A
9	plasma membrane repair	GO:0001778	9.89	CHMP4B CHMP4A
10	nucleus organization	GO:0006997	9.88	CHMP4B CHMP4A
11	regulation of mitotic spindle assembly	GO:1901673	9.88	CHMP4B CHMP4A
12	protein refolding	GO:0042026	9.87	CRYAB CRYAA
13	multivesicular body sorting pathway	GO:0071985	9.86	CHMP4B CHMP4A
14	viral budding via host ESCRT complex	GO:0039702	9.85	CHMP4A CHMP4B
15	late endosome to lysosome transport	GO:1902774	9.84	CHMP4B CHMP4A
16	midbody abscission	GO:0061952	9.83	CHMP4B CHMP4A
17	nuclear membrane reassembly	GO:0031468	9.81	CHMP4B CHMP4A
18	negative regulation of autophagosome assembly	GO:1902902	9.8	CHMP4B CHMP4A
19	protein polymerization	GO:0051258	9.78	CHMP4B CHMP4A
20	vesicle budding from membrane	GO:0006900	9.76	CHMP4B CHMP4A
21	viral budding from plasma membrane	GO:0046761	9.73	CHMP4A CHMP4B
22	late endosome to vacuole transport via multivesicular body sorting pathway	GO:0032511	9.71	CHMP4B CHMP4A
23	endosome to lysosome transport	GO:0008333	9.63	CHMP4B CHMP4A
24	multivesicular body-lysosome fusion	GO:0061763	9.62	CHMP4B CHMP4A
25	vesicle fusion with vacuole	GO:0051469	9.56	CHMP4B CHMP4A
26	post-translational protein targeting to endoplasmic reticulum membrane	GO:0006620	9.46	CHMP4B CHMP4A
27	vacuolar transport	GO:0007034	9.37	CHMP4B CHMP4A
28	negative regulation of intracellular transport	GO:0032387	9.26	CRYAB CRYAA
29	lens development in camera-type eye	GO:0002088	9.1	CRYBA1 CRYAB CRYAA

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	9.1	CRYBA1 CRYAB CRYAA

Sources

Sources for Cataract 16, Multiple Types

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

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 NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

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 Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

CTRCT16 MCID: CTR115 MIFTS: 39	Cataract 16, Multiple Types (CTRCT16) Categories: Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Oral diseases, Rare diseases, Skin diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Cataract 16, Multiple Types (CTRCT16)

Aliases & Classifications for Cataract 16, Multiple Types

MalaCards integrated aliases for Cataract 16, Multiple Types:

Characteristics:

Inheritance:

OMIM®:

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

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