CCP
MCID: CTR009
MIFTS: 20

Cataract Congenital Dominant Non Nuclear (CCP)

Categories: Rare diseases

Aliases & Classifications for Cataract Congenital Dominant Non Nuclear

MalaCards integrated aliases for Cataract Congenital Dominant Non Nuclear:

Name: Cataract Congenital Dominant Non Nuclear 20 6
Cataract, Nonnuclear Polymorphic Congenital, Autosomal Dominant 70
Autosomal Dominant Nonnuclear Polymorphic Congenital Cataract 20
Cataract, Polymorphic Congenital 20
Pcc 20
Ccp 20

Classifications:



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UMLS 70 C1832526

Summaries for Cataract Congenital Dominant Non Nuclear

MalaCards based summary : Cataract Congenital Dominant Non Nuclear, also known as cataract, nonnuclear polymorphic congenital, autosomal dominant, is related to cataract 4, multiple types and hereditary paraganglioma-pheochromocytoma syndromes. An important gene associated with Cataract Congenital Dominant Non Nuclear is CRYGD (Crystallin Gamma D). Affiliated tissues include eye.

Related Diseases for Cataract Congenital Dominant Non Nuclear

Diseases related to Cataract Congenital Dominant Non Nuclear via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 179)
# Related Disease Score Top Affiliating Genes
1 cataract 4, multiple types 31.0 LOC100507443 CRYGD
2 hereditary paraganglioma-pheochromocytoma syndromes 11.4
3 propionic acidemia 11.4
4 pheochromocytoma 11.3
5 microcephaly 1, primary, autosomal recessive 11.1
6 palindromic rheumatism 11.0
7 rheumatoid arthritis 10.8
8 arthritis 10.7
9 iron metabolism disease 10.6
10 helix syndrome 10.4
11 plica syndrome 10.4
12 synovitis 10.4
13 autoimmune disease 10.3
14 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.3
15 juvenile rheumatoid arthritis 10.3
16 triiodothyronine receptor auxiliary protein 10.2
17 psoriatic arthritis 10.2
18 enthesopathy 10.1
19 connective tissue disease 10.1
20 paraganglioma 10.1
21 adrenal gland pheochromocytoma 10.1
22 ocular motor apraxia 10.1
23 posttransplant acute limbic encephalitis 10.1
24 scleroderma, familial progressive 10.1
25 interstitial lung disease 10.1
26 arthropathy 10.1
27 lung disease 10.1
28 polyploidy 10.0
29 pheochromocytoma-paraganglioma 10.0
30 brucellosis 10.0
31 hepatitis c 10.0
32 vasculitis 10.0
33 systemic autoimmune disease 10.0
34 renal cysts and diabetes syndrome 9.9
35 thyroid cancer, nonmedullary, 1 9.9
36 gillespie syndrome 9.9
37 paragangliomas 3 9.9
38 cavitary optic disc anomalies 9.9
39 tumor predisposition syndrome 9.9
40 cutaneous telangiectasia and cancer syndrome, familial 9.9
41 pituitary adenoma 9.9
42 48,xyyy 9.9
43 inherited cancer-predisposing syndrome 9.9
44 thyroid carcinoma 9.9
45 fibrosis of extraocular muscles, congenital, 1 9.9
46 thyroid carcinoma, familial medullary 9.9
47 down syndrome 9.9
48 body mass index quantitative trait locus 1 9.9
49 pulmonary disease, chronic obstructive 9.9
50 mycobacterium tuberculosis 1 9.9

Graphical network of the top 20 diseases related to Cataract Congenital Dominant Non Nuclear:



Diseases related to Cataract Congenital Dominant Non Nuclear

Symptoms & Phenotypes for Cataract Congenital Dominant Non Nuclear

Drugs & Therapeutics for Cataract Congenital Dominant Non Nuclear

Search Clinical Trials , NIH Clinical Center for Cataract Congenital Dominant Non Nuclear

Genetic Tests for Cataract Congenital Dominant Non Nuclear

Anatomical Context for Cataract Congenital Dominant Non Nuclear

MalaCards organs/tissues related to Cataract Congenital Dominant Non Nuclear:

40
Eye

Publications for Cataract Congenital Dominant Non Nuclear

Articles related to Cataract Congenital Dominant Non Nuclear:

(show all 11)
# Title Authors PMID Year
1
Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes. 6
23508780 2013
2
Structural integrity of the Greek key motif in βγ-crystallins is vital for central eye lens transparency. 6
23936409 2013
3
Crystallin gene mutations in Indian families with inherited pediatric cataract. 6
18587492 2008
4
Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8. 6
17724170 2007
5
Conversion and compensatory evolution of the gamma-crystallin genes and identification of a cataractogenic mutation that reverses the sequence of the human CRYGD gene to an ancestral state. 6
17564961 2007
6
Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts. 6
12676897 2003
7
Novel mutations in the gamma-crystallin genes cause autosomal dominant congenital cataracts. 6
12011157 2002
8
Crystal cataracts: human genetic cataract caused by protein crystallization. 6
11371638 2001
9
Link between a novel human gammaD-crystallin allele and a unique cataract phenotype explained by protein crystallography. 6
10915766 2000
10
The gamma-crystallins and human cataracts: a puzzle made clearer. 6
10521291 1999
11
Progressive juvenile-onset punctate cataracts caused by mutation of the gammaD-crystallin gene. 6
9927684 1999

Variations for Cataract Congenital Dominant Non Nuclear

ClinVar genetic disease variations for Cataract Congenital Dominant Non Nuclear:

6 (show all 35)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CRYGD , LOC100507443 NM_006891.4(CRYGD):c.43C>T (p.Arg15Cys) SNV Pathogenic 16937 rs121909595 GRCh37: 2:208989045-208989045
GRCh38: 2:208124321-208124321
2 CRYGD , LOC100507443 NM_006891.4(CRYGD):c.109C>A (p.Arg37Ser) SNV Pathogenic 16939 rs121909597 GRCh37: 2:208988979-208988979
GRCh38: 2:208124255-208124255
3 CRYGD , LOC100507443 NM_006891.4(CRYGD):c.470G>A (p.Trp157Ter) SNV Pathogenic 16941 rs121909598 GRCh37: 2:208986452-208986452
GRCh38: 2:208121728-208121728
4 CRYGD , LOC100507443 NM_006891.4(CRYGD):c.70C>T (p.Pro24Ser) SNV Pathogenic 16942 rs28931605 GRCh37: 2:208989018-208989018
GRCh38: 2:208124294-208124294
5 CRYGD , LOC100507443 NM_006891.4(CRYGD):c.402C>A (p.Tyr134Ter) SNV Pathogenic 68462 rs398122948 GRCh37: 2:208986520-208986520
GRCh38: 2:208121796-208121796
6 CRYGD , LOC100507443 NM_006891.4(CRYGD):c.176G>A (p.Arg59His) SNV Pathogenic 16938 rs121909596 GRCh37: 2:208988912-208988912
GRCh38: 2:208124188-208124188
7 CRYGD , LOC100507443 NM_006891.4(CRYGD):c.418C>T (p.Arg140Ter) SNV Pathogenic 574060 rs1337897299 GRCh37: 2:208986504-208986504
GRCh38: 2:208121780-208121780
8 CRYGD , LOC100507443 NM_006891.4(CRYGD):c.70C>A (p.Pro24Thr) SNV Pathogenic 16940 rs28931605 GRCh37: 2:208989018-208989018
GRCh38: 2:208124294-208124294
9 CRYGD , LOC100507443 NM_006891.4(CRYGD):c.168C>G (p.Tyr56Ter) SNV Conflicting interpretations of pathogenicity 333874 rs202233735 GRCh37: 2:208988920-208988920
GRCh38: 2:208124196-208124196
10 CRYGD , LOC100507443 NM_006891.4(CRYGD):c.22_26delinsCCTTGCAGATCAC (p.Glu8fs) Indel Uncertain significance 468228 rs1553584085 GRCh37: 2:208989062-208989066
GRCh38: 2:208124338-208124342
11 CRYGD , LOC100507443 NM_006891.4(CRYGD):c.400_410del (p.Tyr134fs) Deletion Uncertain significance 536128 rs1553583314 GRCh37: 2:208986512-208986522
GRCh38: 2:208121788-208121798
12 CRYGD , LOC100507443 NM_006891.4(CRYGD):c.155C>G (p.Ser52Trp) SNV Uncertain significance 536129 rs762200707 GRCh37: 2:208988933-208988933
GRCh38: 2:208124209-208124209
13 CRYGD , LOC100507443 NM_006891.4(CRYGD):c.295A>G (p.Arg99Gly) SNV Uncertain significance 333870 rs886055527 GRCh37: 2:208986627-208986627
GRCh38: 2:208121903-208121903
14 CRYGD , LOC100507443 NM_006891.4(CRYGD):c.482A>G (p.Asn161Ser) SNV Uncertain significance 333868 rs760434926 GRCh37: 2:208986440-208986440
GRCh38: 2:208121716-208121716
15 CRYGD , LOC100507443 NM_006891.4(CRYGD):c.-33A>G SNV Uncertain significance 895355 GRCh37: 2:208989230-208989230
GRCh38: 2:208124506-208124506
16 CRYGD , LOC100507443 NM_006891.4(CRYGD):c.333T>C (p.Cys111=) SNV Uncertain significance 896707 GRCh37: 2:208986589-208986589
GRCh38: 2:208121865-208121865
17 CRYGD , LOC100507443 NM_006891.4(CRYGD):c.252C>T (p.His84=) SNV Uncertain significance 897167 GRCh37: 2:208988836-208988836
GRCh38: 2:208124112-208124112
18 CRYGD , LOC100507443 NM_006891.4(CRYGD):c.238C>T (p.Arg80Cys) SNV Likely benign 897168 GRCh37: 2:208988850-208988850
GRCh38: 2:208124126-208124126
19 CRYGD , LOC100507443 NM_006891.4(CRYGD):c.264C>G (p.His88Gln) SNV Likely benign 333871 rs75156162 GRCh37: 2:208986658-208986658
GRCh38: 2:208121934-208121934
20 CRYGD , LOC100507443 NM_006891.4(CRYGD):c.376G>A (p.Val126Met) SNV Benign 333869 rs150318966 GRCh37: 2:208986546-208986546
GRCh38: 2:208121822-208121822
21 CRYGD , LOC100507443 NM_006891.4(CRYGD):c.499C>T (p.Leu167=) SNV Benign 333867 rs774626835 GRCh37: 2:208986423-208986423
GRCh38: 2:208121699-208121699
22 CRYGD , LOC100507443 NM_006891.4(CRYGD):c.130A>G (p.Met44Val) SNV Benign 333875 rs61731517 GRCh37: 2:208988958-208988958
GRCh38: 2:208124234-208124234
23 CRYGD , LOC100507443 NM_006891.4(CRYGD):c.252+10T>A SNV Benign 333872 rs200111275 GRCh37: 2:208988826-208988826
GRCh38: 2:208124102-208124102
24 CRYGD , LOC100507443 NM_006891.4(CRYGD):c.-39C>T SNV Benign 333877 rs765407471 GRCh37: 2:208989236-208989236
GRCh38: 2:208124512-208124512
25 CRYGD , LOC100507443 NM_006891.4(CRYGD):c.192C>G (p.Ala64=) SNV Benign 897169 GRCh37: 2:208988896-208988896
GRCh38: 2:208124172-208124172
26 CRYGD , LOC100507443 NM_006891.4(CRYGD):c.9+15C>T SNV Benign 898331 GRCh37: 2:208989174-208989174
GRCh38: 2:208124450-208124450
27 CRYGD , LOC100507443 NM_006891.4(CRYGD):c.479C>T (p.Thr160Met) SNV Benign 896706 GRCh37: 2:208986443-208986443
GRCh38: 2:208121719-208121719
28 CRYGD , LOC100507443 NM_006891.4(CRYGD):c.-40C>T SNV Benign 333878 rs113618781 GRCh37: 2:208989237-208989237
GRCh38: 2:208124513-208124513
29 CRYGD , LOC100507443 NM_006891.4(CRYGD):c.63C>T (p.Ser21=) SNV Benign 468229 rs150961505 GRCh37: 2:208989025-208989025
GRCh38: 2:208124301-208124301
30 CRYGD , LOC100507443 NM_006891.4(CRYGD):c.10-7C>G SNV Benign 333876 rs189582567 GRCh37: 2:208989085-208989085
GRCh38: 2:208124361-208124361
31 CRYGD , LOC100507443 NM_006891.4(CRYGD):c.252+7A>G SNV Benign 333873 rs185860020 GRCh37: 2:208988829-208988829
GRCh38: 2:208124105-208124105
32 CRYGD , LOC100507443 NM_006891.4(CRYGD):c.*12T>C SNV Benign 260059 rs2305429 GRCh37: 2:208986385-208986385
GRCh38: 2:208121661-208121661
33 CRYGD , LOC100507443 NM_006891.4(CRYGD):c.189T>C (p.Tyr63=) SNV Benign 260060 rs200911604 GRCh37: 2:208988899-208988899
GRCh38: 2:208124175-208124175
34 CRYGD , LOC100507443 NM_006891.4(CRYGD):c.285A>G (p.Arg95=) SNV Benign 260061 rs2305430 GRCh37: 2:208986637-208986637
GRCh38: 2:208121913-208121913
35 CRYGD , LOC100507443 NM_006891.4(CRYGD):c.51T>C (p.Tyr17=) SNV Benign 260062 rs2242074 GRCh37: 2:208989037-208989037
GRCh38: 2:208124313-208124313

Expression for Cataract Congenital Dominant Non Nuclear

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Pathways for Cataract Congenital Dominant Non Nuclear

GO Terms for Cataract Congenital Dominant Non Nuclear

Sources for Cataract Congenital Dominant Non Nuclear

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57 OMIM® (Updated 05-Apr-2021)
61 PubMed
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69 Tocris
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71 UMLS via Orphanet
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