MCID: CTR103
MIFTS: 51

Cataract 4, Multiple Types malady

Genetic diseases, Eye diseases, Fetal diseases, Rare diseases, Oral diseases, Cancer diseases categories

Summaries for Cataract 4, Multiple Types

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OMIM:46 Cerulean cataract, first described by Vogt (1922), is an autosomal dominant, early-onset, bilateral cataract with... (115660) more...

MalaCards based summary: Cataract 4, Multiple Types, also known as early-onset non-syndromic cataract, is related to posterior polar cataract and microphthalmia, and has symptoms including nuclear cataract, autosomal dominant inheritance and anterior polar cataract. An important gene associated with Cataract 4, Multiple Types is CRYGD (crystallin, gamma D), and among its related pathways are Gap junction trafficking and Clathrin derived vesicle budding. The compounds gap 27 and succinimide have been mentioned in the context of this disorder. Affiliated tissues include cortex and eye, and related mouse phenotype vision/eye.

Descriptions from OMIM:46 115700, 601547, 610202, 611391, 614422 615274, 115650, 115665, 115800, 115900, 116100, 116200, 116300, 116400, 116600, 116700, 116800, 212500, 302200, 600881, 601202, 601371, 601885, 604219, 604307, 605387, 605728, 605749, 607304, 609376, 609741, 610019, 610425, 610623, 611544, 611597, 612968, 613763, 614691, 615188, 615277 more

Aliases & Classifications for Cataract 4, Multiple Types

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Sources:
46OMIM, 48Orphanet, 61UMLS, 27ICD10 via Orphanet, 35MESH via Orphanet, 62UMLS via Orphanet
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Cataract 4, Multiple Types, Aliases & Descriptions:

Name: Cataract 4, Multiple Types 46
Early-Onset Non-Syndromic Cataract 48 46
Non-Syndromic Congenital Cataract 48 46
Cerulean Cataract 48 46
Nuclear Cataract 48 61
 
Congenital Lamellar Cataract 61
Coralliform Cataract 48
Lamellar Cataract 48
Blue-Dot Cataract 48
Zonular Cataract 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
non-syndromic congenital cataract:
Age of onset: Neonatal/infancy
coralliform cataract:
Age of onset: Neonatal/infancy
cerulean cataract:
Age of onset: Childhood
lamellar cataract:
Age of onset: Neonatal/infancy
nuclear cataract:
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: Neonatal/infancy


External Ids:

ICD10 via Orphanet27 H26.0, Q12.0
MESH via Orphanet35 C537955, C535342
UMLS via Orphanet62 C0392557, C1112705

Related Diseases for Cataract 4, Multiple Types

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Diseases in the Cataract 4, Multiple Types family:

Cataract Cataract Congenital Autosomal Dominant
Cataract, Autosomal Recessive Congenital 2 Cataract, Total Congenital
Cataracts, Autosomal Dominant Cataracts, Autosomal Recessive
Cataract, Autosomal Recessive Congenital 1 Cataract, Autosomal Recessive Congenital 4
Cataract, Autosomal Recessive Congenital 5 Cataract, Autosomal Dominant, Multiple Types 1
Foxe3-Related Cataracts, Autosomal Dominant Cataract 8, Multiple Types
Cataract 6, Multiple Types Cataract 34, Multiple Types
Cataract 1, Multiple Types Cataract 39, Multiple Types, Autosomal Dominant
Cataract 2, Multiple Types Cataract 42
Cataract 18, Autosomal Recessive Cataract 12, Multiple Types
Cataract 20, Multiple Types Cataract 41
Cataract 38, Autosomal Recessive Cataract 26, Multiple Types
Cataract 36 Cataract 11, Multiple Types
Cataract 16, Multiple Types Cataract 15, Multiple Types
Cataract 37, Autosomal Dominant Cataract 14, Multiple Types
Cataract 32, Multiple Types Cataract, Congenital
Cataract 25 Cataract 5, Multiple Types
Cataract 10, Multiple Types Cataract 7
Cataract 19 Cataract 33
Cataract 31, Multiple Types Cataract 9, Multiple Types
Cataract 17, Multiple Types Cataract 3, Multiple Types
Cataract 22, Autosomal Recessive Cataract 23

Diseases related to Cataract 4, Multiple Types via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 37)
idRelated DiseaseScoreTop Affiliating Genes
1posterior polar cataract30.7CRYBA1
2microphthalmia30.1GJA8, CRYAA, CRYBA4
3cataract28.6GJA3, GJA8, CRYAB, CRYGC, CRYBB1, CRYAA
4cerulean cataract10.8
5retinitis pigmentosa10.5
6blepharophimosis10.5
7retinitis10.5
8cataract 2310.4CRYBA4
9autosomal recessive nonsyndromic congenital nuclear cataract10.4
10diabetes insipidus10.4WFS1
11pearson syndrome10.3
12cataract, zonular10.3
13myotonic dystrophy10.3
14cataract 29, coralliform10.2
15choroideremia10.2
16myopia10.2
17neuropathy10.2
18peripheral neuropathy10.2
19dwarfism10.2
20cerebellar hypoplasia10.2
21trisomy 17 mosaicism10.2
22nuclear senile cataract10.2
23neonatal jaundice10.1
24cataract, polymorphic and lamellar10.1
25cataract 5, multiple types10.1
26cataracts, autosomal dominant10.0CRYBB2, CRYAA, CRYBB1, GJA8
27ectodermal dysplasia10.0
28hypohidrotic ectodermal dysplasia10.0
29presbyopia10.0
30coloboma10.0
31eye disease10.0
32cataract congenital dominant non nuclear10.0
33fanconi bickel syndrome10.0
34cataract 4110.0
35cataract 35, congenital nuclear10.0
36senile cataract9.6MIP, GJA8, CRYBB1, CRYAA, CRYBB2, CRYGS
37cataract, congenital9.1CRYAB, CRYBB1, CRYAA, CRYBB2, CRYBA1, CRYBB3

Graphical network of the top 20 diseases related to Cataract 4, Multiple Types:



Diseases related to cataract 4, multiple types

Symptoms for Cataract 4, Multiple Types

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HPO human phenotypes related to Cataract 4, Multiple Types:

(show all 10)
id Description Frequency HPO Source Accession
1 nuclear cataract 41% HP:0100018
2 autosomal dominant inheritance HP:0000006
3 anterior polar cataract HP:0001134
4 autosomal dominant inheritance HP:0000006
5 visual loss HP:0000572
6 autosomal dominant inheritance HP:0000006
7 congenital cataract HP:0000519
8 progressive visual loss HP:0000529
9 autosomal dominant inheritance HP:0000006
10 congenital cataract HP:0000519

Drugs & Therapeutics for Cataract 4, Multiple Types

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Drug clinical trials:

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Search NIH Clinical Center for Cataract 4, Multiple Types

Genetic Tests for Cataract 4, Multiple Types

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Anatomical Context for Cataract 4, Multiple Types

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MalaCards organs/tissues related to Cataract 4, Multiple Types:

32
Cortex, Eye

Animal Models for Cataract 4, Multiple Types or affiliated genes

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MGI Mouse Phenotypes related to Cataract 4, Multiple Types:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053915.7GJA3, LIM2, MIP, MAF, CRYGS, CRYGB

Publications for Cataract 4, Multiple Types

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Variations for Cataract 4, Multiple Types

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UniProtKB/Swiss-Prot genetic disease variations for Cataract 4, Multiple Types:

63
id Symbol AA change Variation ID SNP ID
1CRYGDp.Arg15CysVAR_010733
2CRYGDp.Arg37SerVAR_010734
3CRYGDp.Arg59HisVAR_010735
4CRYGDp.Pro24ThrVAR_021145
5CRYGDp.Pro24SerVAR_034955rs28931605
6CRYGDp.Glu107AlaVAR_034956
7CRYGDp.Trp43ArgVAR_064829

Clinvar genetic disease variations for Cataract 4, Multiple Types:

7 (show all 75)
id Gene Name Type Significance SNP ID Assembly Location
1CHMP4BNM_176812.4(CHMP4B): c.386A> T (p.Asp129Val)single nucleotide variantPathogenicrs118203965GRCh37Chr 20, 32438775: 32438775
2CHMP4BNM_176812.4(CHMP4B): c.481G> A (p.Glu161Lys)single nucleotide variantPathogenicrs118203966GRCh37Chr 20, 32438870: 32438870
3NHSNHS, 500-KB TRIPLICATIONundetermined variantPathogenic
4NHSNHS, 4.8-KB DELdeletionPathogenic
5NM_003380.3(VIM): c.451G> A (p.Glu151Lys)single nucleotide variantPathogenicrs121917775GRCh37Chr 10, 17271872: 17271872
6EPHA2NM_004431.3(EPHA2): c.2842G> T (p.Gly948Trp)single nucleotide variantPathogenicrs137853199GRCh37Chr 1, 16451799: 16451799
7EPHA2NM_004431.3(EPHA2): c.2819C> T (p.Thr940Ile)single nucleotide variantPathogenicrs137853200GRCh37Chr 1, 16455935: 16455935
8EPHA2EPHA2, 2-BP DEL, 2915TGdeletionPathogenic
9EPHA2EPHA2, IVS16, G-A, -9single nucleotide variantPathogenic
10CRYBB3NM_004076.4(CRYBB3): c.581T> A (p.Val194Glu)single nucleotide variantPathogenicGRCh37Chr 22, 25603124: 25603124
11LIM2NM_030657.3(LIM2): c.439T> G (p.Phe147Val)single nucleotide variantPathogenicrs121913555GRCh37Chr 19, 51885684: 51885684
12CRYGSNM_017541.2(CRYGS): c.53G> T (p.Gly18Val)single nucleotide variantPathogenicrs104893736GRCh37Chr 3, 186257355: 186257355
13NM_006891.3(CRYGD): c.43C> T (p.Arg15Cys)single nucleotide variantPathogenicrs121909595GRCh37Chr 2, 208989045: 208989045
14NM_006891.3(CRYGD): c.176G> A (p.Arg59His)single nucleotide variantPathogenicrs121909596GRCh37Chr 2, 208988912: 208988912
15NM_006891.3(CRYGD): c.109C> A (p.Arg37Ser)single nucleotide variantPathogenicrs121909597GRCh37Chr 2, 208988979: 208988979
16NM_006891.3(CRYGD): c.70C> A (p.Pro24Thr)single nucleotide variantPathogenicrs28931605GRCh37Chr 2, 208989018: 208989018
17NM_006891.3(CRYGD): c.470G> A (p.Trp157Ter)single nucleotide variantPathogenicrs121909598GRCh37Chr 2, 208986452: 208986452
18NM_006891.3(CRYGD): c.70C> T (p.Pro24Ser)single nucleotide variantPathogenicrs28931605GRCh37Chr 2, 208989018: 208989018
19CRYGCCRYGC, 5-BP DUP, NT226duplicationPathogenic
20NM_020989.3(CRYGC): c.502C> T (p.Arg168Trp)single nucleotide variantPathogenicrs28931604GRCh37Chr 2, 208992950: 208992950
21CRYBA4NM_001886.2(CRYBA4): c.281T> C (p.Phe94Ser)single nucleotide variantPathogenicrs74315486GRCh37Chr 22, 27021567: 27021567
22CRYBA4NM_001886.2(CRYBA4): c.206T> C (p.Leu69Pro)single nucleotide variantPathogenicrs74315487GRCh37Chr 22, 27021492: 27021492
23CRYBB3NM_004076.4(CRYBB3): c.493G> C (p.Gly165Arg)single nucleotide variantPathogenicrs74315490GRCh37Chr 22, 25603036: 25603036
24CRYBA1CRYBA1, IVS3DS, G-A, +1deletionPathogenic
25CRYBA1CRYBA1, 3-BP DEL, 278GGAdeletionPathogenic
26CRYABCRYAB, 1-BP DEL, 450AdeletionPathogenic
27CRYAANM_000394.3(CRYAA): c.346C> T (p.Arg116Cys)single nucleotide variantPathogenicrs74315439GRCh37Chr 21, 44592214: 44592214
28CRYAANM_000394.3(CRYAA): c.145C> T (p.Arg49Cys)single nucleotide variantPathogenicrs74315441GRCh37Chr 21, 44589354: 44589354
29CRYAANM_000394.3(CRYAA): c.347G> A (p.Arg116His)single nucleotide variantPathogenicrs121912973GRCh37Chr 21, 44592215: 44592215
30GJA3NM_021954.3(GJA3): c.188A> G (p.Asn63Ser)single nucleotide variantPathogenicrs121917823GRCh37Chr 13, 20717240: 20717240
31GJA3GJA3, 1-BP INS, 1137CinsertionPathogenic
32GJA3NM_021954.3(GJA3): c.560C> T (p.Pro187Leu)single nucleotide variantPathogenicrs121917825GRCh37Chr 13, 20716868: 20716868
33GJA3NM_021954.3(GJA3): c.227G> A (p.Arg76His)single nucleotide variantPathogenicrs121917827GRCh37Chr 13, 20717201: 20717201
34FYCO1NM_024513.3(FYCO1): c.1045C> T (p.Gln349Ter)single nucleotide variantPathogenicrs387906963GRCh37Chr 3, 46009781: 46009781
35FYCO1NM_024513.3(FYCO1): c.2206C> T (p.Gln736Ter)single nucleotide variantPathogenicrs387906964GRCh37Chr 3, 46008620: 46008620
36FYCO1FYCO1, IVS9DS, G-T, +1single nucleotide variantPathogenic
37FYCO1FYCO1, 5-BP DUP, 3858GGAATduplicationPathogenic
38FYCO1NM_024513.3(FYCO1): c.4127T> C (p.Leu1376Pro)single nucleotide variantPathogenicrs387906965GRCh37Chr 3, 45972687: 45972687
39FYCO1NM_024513.3(FYCO1): c.1546C> T (p.Gln516Ter)single nucleotide variantPathogenicrs387906966GRCh37Chr 3, 46009280: 46009280
40AGKAGK, 424-3C-Gsingle nucleotide variantPathogenic
41CRYABNM_001885.2(CRYAB): c.418G> A (p.Asp140Asn)single nucleotide variantPathogenicrs387907336GRCh37Chr 11, 111779598: 111779598
42CRYABNM_001885.2(CRYAB): c.58C> T (p.Pro20Ser)single nucleotide variantPathogenicrs387907337GRCh37Chr 11, 111782391: 111782391
43CRYABNM_001885.2(CRYAB): c.166C> T (p.Arg56Trp)single nucleotide variantPathogenicrs387907338GRCh37Chr 11, 111782283: 111782283
44NM_005210.3(CRYGB): c.72delC (p.Asn25Thrfs*20)deletionPathogenicrs387907342GRCh37Chr 2, 209010678: 209010678
45NM_005210.3(CRYGB): c.10-38delGdeletionPathogenicrs3214759GRCh37Chr 2, 209010778: 209010778
46GJA3NM_021954.3(GJA3): c.563A> C (p.Asn188Thr)single nucleotide variantPathogenicrs140332366GRCh37Chr 13, 20716865: 20716865
47GJA3NM_021954.3(GJA3): c.5G> A (p.Gly2Asp)single nucleotide variantPathogenicrs397514703GRCh37Chr 13, 20717423: 20717423
48GJA3NM_021954.3(GJA3): c.563A> T (p.Asn188Ile)single nucleotide variantPathogenicrs140332366GRCh37Chr 13, 20716865: 20716865
49GJA3NM_021954.3(GJA3): c.616T> A (p.Phe206Ile)single nucleotide variantPathogenicrs397514704GRCh37Chr 13, 20716812: 20716812
50GJA3NM_021954.3(GJA3): c.427G> A (p.Gly143Arg)single nucleotide variantPathogenicrs398122937GRCh37Chr 13, 20717001: 20717001
51NM_003571.3(BFSP2): c.859C> T (p.Arg287Trp)single nucleotide variantPathogenicrs104893685GRCh37Chr 3, 133169276: 133169276
52NM_003571.3(BFSP2): c.697_699delGAA (p.Glu233del)deletionPathogenicrs121908938GRCh37Chr 3, 133167457: 133167459
53NM_020989.3(CRYGC): c.470G> A (p.Trp157Ter)single nucleotide variantPathogenicrs398122392GRCh37Chr 2, 208992982: 208992982
54NM_020989.3(CRYGC): c.471G> A (p.Trp157Ter)single nucleotide variantPathogenicrs398122944GRCh37Chr 2, 208992981: 208992981
55NM_020989.3(CRYGC): c.385G> T (p.Gly129Cys)single nucleotide variantPathogenicrs137853924GRCh37Chr 2, 208993067: 208993067
56CRYAANM_000394.3(CRYAA): c.292G> A (p.Gly98Arg)single nucleotide variantPathogenicrs398122947GRCh37Chr 21, 44590729: 44590729
57CRYAANM_000394.3(CRYAA): c.160C> T (p.Arg54Cys)single nucleotide variantPathogenicrs397515623GRCh37Chr 21, 44589369: 44589369
58CRYAANM_000394.3(CRYAA): c.62G> A (p.Arg21Gln)single nucleotide variantPathogenicrs397515626GRCh37Chr 21, 44589271: 44589271
59NM_006891.3(CRYGD): c.402C> A (p.Tyr134Ter)single nucleotide variantPathogenicrs398122948GRCh37Chr 2, 208986520: 208986520
60GJA8NM_005267.4(GJA8): c.566C> T (p.Pro189Leu)single nucleotide variantPathogenicrs397515627GRCh37Chr 1, 147380648: 147380648
61NM_020989.3(CRYGC): c.497C> T (p.Ser166Phe)single nucleotide variantPathogenicGRCh37Chr 2, 208992955: 208992955
62HSF4NM_001040667.2(HSF4): c.341T> C (p.Leu114Pro)single nucleotide variantPathogenicrs121909048GRCh37Chr 16, 67199730: 67199730
63HSF4NM_001040667.2(HSF4): c.355C> T (p.Arg119Cys)single nucleotide variantPathogenicrs28937573GRCh37Chr 16, 67199744: 67199744
64HSF4NM_001040667.2(HSF4): c.56C> A (p.Ala19Asp)single nucleotide variantPathogenicrs121909049GRCh37Chr 16, 67198770: 67198770
65HSF4NM_001040667.2(HSF4): c.256A> G (p.Ile86Val)single nucleotide variantPathogenicrs121909050GRCh37Chr 16, 67199645: 67199645
66CRYBB1NM_001887.3(CRYBB1): c.658G> T (p.Gly220Ter)single nucleotide variantPathogenicrs74315488GRCh37Chr 22, 26995555: 26995555
67CRYBB1CRYBB1, 1-BP DEL, 168GdeletionPathogenic
68GJA8NM_005267.4(GJA8): c.262C> T (p.Pro88Ser)single nucleotide variantPathogenicrs80358200GRCh37Chr 1, 147380344: 147380344
69GJA8NM_005267.4(GJA8): c.142G> A (p.Glu48Lys)single nucleotide variantPathogenicrs80358201GRCh37Chr 1, 147380224: 147380224
70GJA8NM_005267.4(GJA8): c.741T> G (p.Ile247Met)single nucleotide variantPathogenicrs80358202GRCh37Chr 1, 147380823: 147380823
71GJA8NM_005267.4(GJA8): c.68G> C (p.Arg23Thr)single nucleotide variantPathogenicrs80358203GRCh37Chr 1, 147380150: 147380150
72GJA8NM_005267.4(GJA8): c.131T> A (p.Val44Glu)single nucleotide variantPathogenicrs80358204GRCh37Chr 1, 147380213: 147380213
73GJA8NM_005267.4(GJA8): c.593G> A (p.Arg198Gln)single nucleotide variantPathogenicrs80358205GRCh37Chr 1, 147380675: 147380675
74GJA8NM_005267.4(GJA8): c.139G> A (p.Asp47Asn)single nucleotide variantPathogenicrs121434643GRCh37Chr 1, 147380221: 147380221
75WFS1NM_006005.3(WFS1): c.1385A> G (p.Glu462Gly)single nucleotide variantPathogenicrs398123066GRCh37Chr 4, 6302907: 6302907

Expression for genes affiliated with Cataract 4, Multiple Types

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Expression patterns in normal tissues for genes affiliated with Cataract 4, Multiple Types

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Pathways for genes affiliated with Cataract 4, Multiple Types

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Compounds for genes affiliated with Cataract 4, Multiple Types

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Compounds related to Cataract 4, Multiple Types according to GeneCards/GeneDecks:

(show all 12)
idCompoundScoreTop Affiliating Genes
1gap 276010.3GJA8, GJA3
2succinimide4410.3CRYAB, CRYAA
3methionine sulfoxide44 25 1212.3CRYAA, CRYAB
4carbenoxolone disodium6010.3GJA8, GJA3
5scrambled 10panx6010.3GJA8, GJA3
610panx6010.2GJA8, GJA3
7octanol29 2511.2GJA3, GJA8
8flufenamic acid29 44 3 1213.1GJA3, GJA8
9carbenoxolone44 29 1212.0GJA3, GJA8
10ca2+299.8GJA3, GJA8
11mp 26449.3GJA3, CRYAA, MIP, LIM2
12glucose448.5MIP, MAF, CRYAA, CRYAB, AGK

GO Terms for genes affiliated with Cataract 4, Multiple Types

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Cellular components related to Cataract 4, Multiple Types according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1connexon complexGO:00592210.1GJA3, GJA8

Biological processes related to Cataract 4, Multiple Types according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of intracellular transportGO:03238710.2CRYAB, CRYAA
2tubulin complex assemblyGO:00702110.1CRYAB, CRYAA
3response to hydrogen peroxideGO:04254210.1CRYAB, CRYAA
4apoptotic process involved in morphogenesisGO:06056110.0CRYAA, CRYAB
5camera-type eye developmentGO:0430109.7CRYBA4, CRYBB2, CRYGC
6protein homooligomerizationGO:0512609.6GJA8, CRYAB, CRYAA
7lens fiber cell morphogenesisGO:0703099.6CRYAA, CRYGB, EPHA2
8lens development in camera-type eyeGO:0020888.3GJA8, CRYAB, CRYBA2, CRYBA1, CRYGS, MIP
9visual perceptionGO:0076017.0GJA3, MIP, WFS1, CRYGB, GJA8, CRYGC

Molecular functions related to Cataract 4, Multiple Types according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein homodimerization activityGO:0428039.2CRYAB, CRYBA2, CRYBB2, CRYBA1
2structural constituent of eye lensGO:0052126.0CRYAB, LIM2, MIP, CRYGS, CRYGB, CRYBB3

Products for genes affiliated with Cataract 4, Multiple Types

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Sources for Cataract 4, Multiple Types

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet