CTRCT36
MCID: CTR111
MIFTS: 35

Cataract 36 (CTRCT36)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Oral diseases, Rare diseases

Aliases & Classifications for Cataract 36

MalaCards integrated aliases for Cataract 36:

Name: Cataract 36 57 12 72 15 70
Cataract, Autosomal Recessive Congenital 4 57 29 13 6
Ctrct36 57 12 72
Catc4 57 12 72
Autosomal Recessive Congenital Cataract 4 12 72
Cataract, Autosomal Recessive Congenital 4; Catc4 57
Cataract, Type 36 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
no clinical details provided


HPO:

31
cataract 36:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110247
OMIM® 57 613887
OMIM Phenotypic Series 57 PS116200
MeSH 44 D002386
MedGen 41 C3151304
UMLS 70 C3151304

Summaries for Cataract 36

UniProtKB/Swiss-Prot : 72 Cataract 36: An opacification of the crystalline lens of the eye becoming evident at birth. It 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.

MalaCards based summary : Cataract 36, also known as cataract, autosomal recessive congenital 4, is related to intraocular pressure quantitative trait locus and cataract. An important gene associated with Cataract 36 is TDRD7 (Tudor Domain Containing 7), and among its related pathways/superpathways are Tight junction and Regulation of CFTR activity (norm and CF). Affiliated tissues include eye, and related phenotypes are cataract and Increased shRNA abundance (Z-score > 2)

Disease Ontology : 12 A cataract that has material basis in homozygous mutation in the TDRD7 gene on chromosome 9q22.33.

More information from OMIM: 613887 PS116200

Related Diseases for Cataract 36

Graphical network of the top 20 diseases related to Cataract 36:



Diseases related to Cataract 36

Symptoms & Phenotypes for Cataract 36

Human phenotypes related to Cataract 36:

31
# Description HPO Frequency HPO Source Accession
1 cataract 31 HP:0000518

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
cataract

Clinical features from OMIM®:

613887 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Cataract 36 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-101 9.44 TUBA3D
2 Increased shRNA abundance (Z-score > 2) GR00366-A-145 9.44 TUBA3C TUBA3D
3 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.44 TUBA3D
4 Increased shRNA abundance (Z-score > 2) GR00366-A-162 9.44 TUBA3C
5 Increased shRNA abundance (Z-score > 2) GR00366-A-210 9.44 TUBA3C
6 Increased shRNA abundance (Z-score > 2) GR00366-A-40 9.44 TUBA3C TUBA3D
7 Increased shRNA abundance (Z-score > 2) GR00366-A-53 9.44 TUBA3D
8 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.44 TUBA3C
9 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.44 TUBA3C
10 Increased shRNA abundance (Z-score > 2) GR00366-A-96 9.44 TUBA3C TUBA3D

Drugs & Therapeutics for Cataract 36

Search Clinical Trials , NIH Clinical Center for Cataract 36

Genetic Tests for Cataract 36

Genetic tests related to Cataract 36:

# Genetic test Affiliating Genes
1 Cataract, Autosomal Recessive Congenital 4 29 TDRD7

Anatomical Context for Cataract 36

MalaCards organs/tissues related to Cataract 36:

40
Eye

Publications for Cataract 36

Articles related to Cataract 36:

# Title Authors PMID Year
1
Molecular Genetic Analysis of Pakistani Families With Autosomal Recessive Congenital Cataracts by Homozygosity Screening. 6 57
28418495 2017
2
Mutations in the RNA granule component TDRD7 cause cataract and glaucoma. 6 57
21436445 2011
3
SPECIFIC CHARACTERISTICS OF OCULAR BIOMETRIC FACTORS IN GLAUCOMATOUS PATIENTS WITH PSEUDOEXFOLIATIVE SYNDROME AS MEASURED BY OPTICAL LOW-COHERENCE REFLECTOMETRY. 61
31363329 2019
4
Radiotherapeutic and surgical management of iris melanoma: A review. 61
28062196 2017
5
Survey of referrals and medical reports in optometric practices in Norway: midterm findings from a 3-year prospective Internet-based study. 61
30319304 2017
6
Prevalence, causes of blindness, visual impairment and cataract surgical services in Sindhudurg district on the western coastal strip of India. 61
24618491 2014
7
Prevalence of blindness and low vision in Malaysian population: results from the National Eye Survey 1996. 61
12185113 2002
8
Bilateral malformative glaucoma associated with cataract: 36 years of follow-up. 61
11334013 2000
9
[Traumatic hyphema caused by contusion in Zaire]. 61
7738302 1995

Variations for Cataract 36

ClinVar genetic disease variations for Cataract 36:

6 (show top 50) (show all 84)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TDRD7 TDRD7, 3-BP DEL, VAL618 Deletion Pathogenic 30903 GRCh37:
GRCh38:
2 TDRD7 NM_014290.3(TDRD7):c.1129del (p.Ala377fs) Deletion Pathogenic 426069 rs765628635 GRCh37: 9:100222733-100222733
GRCh38: 9:97460451-97460451
3 TDRD7 NM_014290.3(TDRD7):c.689dup (p.Tyr230Ter) Duplication Pathogenic 427904 rs1554744860 GRCh37: 9:100203990-100203991
GRCh38: 9:97441708-97441709
4 TDRD7 NM_014290.3(TDRD7):c.328dup (p.Thr110fs) Duplication Pathogenic 427905 rs1554743428 GRCh37: 9:100193331-100193332
GRCh38: 9:97431049-97431050
5 TDRD7 NM_014290.3(TDRD7):c.2539G>A (p.Asp847Asn) SNV Likely pathogenic 800981 rs1477743112 GRCh37: 9:100245257-100245257
GRCh38: 9:97482975-97482975
6 TDRD7 NM_014290.3(TDRD7):c.231C>T (p.Cys77=) SNV Conflicting interpretations of pathogenicity 539171 rs143579801 GRCh37: 9:100193238-100193238
GRCh38: 9:97430956-97430956
7 TDRD7 NM_014290.3(TDRD7):c.2079+7C>T SNV Conflicting interpretations of pathogenicity 260381 rs201253435 GRCh37: 9:100235915-100235915
GRCh38: 9:97473633-97473633
8 TDRD7 NM_014290.3(TDRD7):c.189G>C (p.Glu63Asp) SNV Uncertain significance 539170 rs144477083 GRCh37: 9:100190936-100190936
GRCh38: 9:97428654-97428654
9 TDRD7 NM_014290.3(TDRD7):c.1760A>G (p.Asp587Gly) SNV Uncertain significance 954825 GRCh37: 9:100234593-100234593
GRCh38: 9:97472311-97472311
10 TDRD7 NM_014290.3(TDRD7):c.622A>G (p.Thr208Ala) SNV Uncertain significance 872552 GRCh37: 9:100201585-100201585
GRCh38: 9:97439303-97439303
11 TDRD7 NM_014290.3(TDRD7):c.2941A>G (p.Ile981Val) SNV Uncertain significance 957930 GRCh37: 9:100249479-100249479
GRCh38: 9:97487197-97487197
12 TDRD7 NM_014290.3(TDRD7):c.295C>T (p.Arg99Cys) SNV Uncertain significance 838196 GRCh37: 9:100193302-100193302
GRCh38: 9:97431020-97431020
13 TDRD7 NM_014290.3(TDRD7):c.1261C>A (p.His421Asn) SNV Uncertain significance 954824 GRCh37: 9:100222865-100222865
GRCh38: 9:97460583-97460583
14 TDRD7 NM_014290.3(TDRD7):c.2524T>C (p.Trp842Arg) SNV Uncertain significance 1031260 GRCh37: 9:100245242-100245242
GRCh38: 9:97482960-97482960
15 TDRD7 NM_014290.3(TDRD7):c.1276A>G (p.Ile426Val) SNV Uncertain significance 1035583 GRCh37: 9:100222880-100222880
GRCh38: 9:97460598-97460598
16 TDRD7 NM_014290.3(TDRD7):c.2001C>G (p.Leu667=) SNV Uncertain significance 260378 rs764337688 GRCh37: 9:100235830-100235830
GRCh38: 9:97473548-97473548
17 TDRD7 NM_014290.3(TDRD7):c.444C>T (p.Asn148=) SNV Uncertain significance 772970 rs144510531 GRCh37: 9:100194401-100194401
GRCh38: 9:97432119-97432119
18 TDRD7 NM_014290.3(TDRD7):c.1583C>T (p.Ala528Val) SNV Uncertain significance 364068 rs374337717 GRCh37: 9:100227264-100227264
GRCh38: 9:97464982-97464982
19 TDRD7 NM_014290.3(TDRD7):c.582C>A (p.Ser194=) SNV Uncertain significance 364061 rs772250609 GRCh37: 9:100201545-100201545
GRCh38: 9:97439263-97439263
20 TDRD7 NM_014290.3(TDRD7):c.2491A>G (p.Ser831Gly) SNV Uncertain significance 364075 rs886063214 GRCh37: 9:100245209-100245209
GRCh38: 9:97482927-97482927
21 TDRD7 NM_014290.3(TDRD7):c.2791C>T (p.Pro931Ser) SNV Uncertain significance 364078 rs146083361 GRCh37: 9:100245509-100245509
GRCh38: 9:97483227-97483227
22 TDRD7 NM_014290.3(TDRD7):c.-42G>C SNV Uncertain significance 364057 rs540892282 GRCh37: 9:100174485-100174485
GRCh38: 9:97412203-97412203
23 TDRD7 NM_014290.3(TDRD7):c.718C>T (p.Arg240Cys) SNV Uncertain significance 364063 rs199787418 GRCh37: 9:100204020-100204020
GRCh38: 9:97441738-97441738
24 TDRD7 NM_014290.3(TDRD7):c.2390A>G (p.Asn797Ser) SNV Uncertain significance 364073 rs747436777 GRCh37: 9:100243198-100243198
GRCh38: 9:97480916-97480916
25 TDRD7 NM_014290.3(TDRD7):c.-122T>C SNV Uncertain significance 364055 rs886063212 GRCh37: 9:100174405-100174405
GRCh38: 9:97412123-97412123
26 TDRD7 NM_014290.3(TDRD7):c.1629+11T>C SNV Uncertain significance 364069 rs757235995 GRCh37: 9:100227321-100227321
GRCh38: 9:97465039-97465039
27 TDRD7 NM_014290.3(TDRD7):c.2955A>G (p.Gly985=) SNV Uncertain significance 364079 rs201216195 GRCh37: 9:100249493-100249493
GRCh38: 9:97487211-97487211
28 TDRD7 NM_014290.3(TDRD7):c.2665A>G (p.Met889Val) SNV Uncertain significance 364076 rs149536158 GRCh37: 9:100245383-100245383
GRCh38: 9:97483101-97483101
29 TDRD7 NM_014290.3(TDRD7):c.637+13A>G SNV Uncertain significance 914125 GRCh37: 9:100201613-100201613
GRCh38: 9:97439331-97439331
30 TDRD7 NM_014290.3(TDRD7):c.725A>G (p.Lys242Arg) SNV Uncertain significance 914126 GRCh37: 9:100204027-100204027
GRCh38: 9:97441745-97441745
31 TDRD7 NM_014290.3(TDRD7):c.2381C>A (p.Ser794Tyr) SNV Uncertain significance 914167 GRCh37: 9:100243189-100243189
GRCh38: 9:97480907-97480907
32 TDRD7 NM_014290.3(TDRD7):c.2605A>G (p.Met869Val) SNV Uncertain significance 914168 GRCh37: 9:100245323-100245323
GRCh38: 9:97483041-97483041
33 TDRD7 NM_014290.3(TDRD7):c.-120C>G SNV Uncertain significance 914589 GRCh37: 9:100174407-100174407
GRCh38: 9:97412125-97412125
34 TDRD7 NM_014290.3(TDRD7):c.-64A>G SNV Uncertain significance 914590 GRCh37: 9:100174463-100174463
GRCh38: 9:97412181-97412181
35 TDRD7 NM_014290.3(TDRD7):c.-47G>A SNV Uncertain significance 914591 GRCh37: 9:100174480-100174480
GRCh38: 9:97412198-97412198
36 TDRD7 NM_014290.3(TDRD7):c.-6-3T>C SNV Uncertain significance 914592 GRCh37: 9:100190739-100190739
GRCh38: 9:97428457-97428457
37 TDRD7 NM_014290.3(TDRD7):c.987G>A (p.Pro329=) SNV Uncertain significance 914625 GRCh37: 9:100222591-100222591
GRCh38: 9:97460309-97460309
38 TDRD7 NM_014290.3(TDRD7):c.1032A>G (p.Lys344=) SNV Uncertain significance 914626 GRCh37: 9:100222636-100222636
GRCh38: 9:97460354-97460354
39 TDRD7 NM_014290.3(TDRD7):c.1308G>A (p.Gln436=) SNV Uncertain significance 914627 GRCh37: 9:100222912-100222912
GRCh38: 9:97460630-97460630
40 TDRD7 NM_014290.3(TDRD7):c.1353C>T (p.Asp451=) SNV Uncertain significance 914628 GRCh37: 9:100222957-100222957
GRCh38: 9:97460675-97460675
41 TDRD7 NM_014290.3(TDRD7):c.3038G>A (p.Arg1013Gln) SNV Uncertain significance 914669 GRCh37: 9:100249576-100249576
GRCh38: 9:97487294-97487294
42 TDRD7 NM_014290.3(TDRD7):c.3129T>C (p.His1043=) SNV Uncertain significance 914670 GRCh37: 9:100257997-100257997
GRCh38: 9:97495715-97495715
43 TDRD7 NM_014290.3(TDRD7):c.*191G>A SNV Uncertain significance 914671 GRCh37: 9:100258356-100258356
GRCh38: 9:97496074-97496074
44 TDRD7 NM_014290.3(TDRD7):c.*220T>C SNV Uncertain significance 914672 GRCh37: 9:100258385-100258385
GRCh38: 9:97496103-97496103
45 TDRD7 NM_014290.3(TDRD7):c.2104T>A (p.Ser702Thr) SNV Uncertain significance 471809 rs946019953 GRCh37: 9:100237689-100237689
GRCh38: 9:97475407-97475407
46 TDRD7 NM_014290.3(TDRD7):c.700A>G (p.Met234Val) SNV Uncertain significance 364062 rs758372213 GRCh37: 9:100204002-100204002
GRCh38: 9:97441720-97441720
47 TDRD7 NM_014290.3(TDRD7):c.854C>T (p.Thr285Met) SNV Uncertain significance 364065 rs141457141 GRCh37: 9:100204156-100204156
GRCh38: 9:97441874-97441874
48 TDRD7 NM_014290.3(TDRD7):c.3129T>A (p.His1043Gln) SNV Uncertain significance 364080 rs371279564 GRCh37: 9:100257997-100257997
GRCh38: 9:97495715-97495715
49 TDRD7 NM_014290.3(TDRD7):c.2039G>T (p.Ser680Ile) SNV Uncertain significance 364072 rs140111735 GRCh37: 9:100235868-100235868
GRCh38: 9:97473586-97473586
50 TDRD7 NM_014290.3(TDRD7):c.838T>C (p.Trp280Arg) SNV Uncertain significance 364064 rs201246147 GRCh37: 9:100204140-100204140
GRCh38: 9:97441858-97441858

Expression for Cataract 36

Search GEO for disease gene expression data for Cataract 36.

Pathways for Cataract 36

Pathways related to Cataract 36 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.68 TUBA3D TUBA3C
2
Show member pathways
11.65 TUBA3D TUBA3C
3 11.55 TUBA3D TUBA3C
4 11.51 TUBA3C RACGAP1
5
Show member pathways
11.48 TUBA3D TUBA3C
6
Show member pathways
11.34 TUBA3D TUBA3C
7
Show member pathways
11.19 TUBA3D TUBA3C
8 10.93 TUBA3D TUBA3C
9 10.57 TUBA3D TUBA3C

GO Terms for Cataract 36

Cellular components related to Cataract 36 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 microtubule cytoskeleton GO:0015630 8.96 TUBA3D TUBA3C
2 microtubule GO:0005874 8.8 TUBA3D TUBA3C RACGAP1

Biological processes related to Cataract 36 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton organization GO:0007010 9.26 TUBA3D TUBA3C
2 mitotic cell cycle GO:0000278 9.16 TUBA3D TUBA3C
3 microtubule cytoskeleton organization GO:0000226 8.96 TUBA3D TUBA3C
4 microtubule-based process GO:0007017 8.62 TUBA3D TUBA3C

Molecular functions related to Cataract 36 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of cytoskeleton GO:0005200 8.62 TUBA3D TUBA3C

Sources for Cataract 36

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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