CTRCT36
MCID: CTR111
MIFTS: 21

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 58 12 76 74
Cataract, Autosomal Recessive Congenital 4 58 30 13 6
Ctrct36 58 12 76
Catc4 58 12 76
Autosomal Recessive Congenital Cataract 4 12 76
Cataract, Autosomal Recessive Congenital 4; Catc4 58
Cataract, Type 36 ) 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
no clinical details provided


HPO:

33
cataract 36:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110247
OMIM 58 613887
MeSH 45 D002386
MedGen 43 C3151304
UMLS 74 C3151304

Summaries for Cataract 36

UniProtKB/Swiss-Prot : 76 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, is also known as cataract, autosomal recessive congenital 4. An important gene associated with Cataract 36 is TDRD7 (Tudor Domain Containing 7). Affiliated tissues include eye, and related phenotype is cataract.

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

Description from OMIM: 613887

Symptoms & Phenotypes for Cataract 36

Human phenotypes related to Cataract 36:

33
# Description HPO Frequency HPO Source Accession
1 cataract 33 HP:0000518

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
cataract

Clinical features from OMIM:

613887

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 30 TDRD7

Anatomical Context for Cataract 36

MalaCards organs/tissues related to Cataract 36:

42
Eye

Publications for Cataract 36

Articles related to Cataract 36:

# Title Authors Year
1
Molecular Genetic Analysis of Pakistani Families With Autosomal Recessive Congenital Cataracts by Homozygosity Screening. ( 28418495 )
2017
2
Mutations in the RNA granule component TDRD7 cause cataract and glaucoma. ( 21436445 )
2011

Variations for Cataract 36

ClinVar genetic disease variations for Cataract 36:

6 (show all 23)
# Gene Variation Type Significance SNP ID Assembly Location
1 TDRD7 TDRD7, 3-BP DEL, VAL618 deletion Pathogenic
2 TDRD7 NM_014290.2(TDRD7): c.1629+7A> G single nucleotide variant Benign rs151288166 GRCh37 Chromosome 9, 100227317: 100227317
3 TDRD7 NM_014290.2(TDRD7): c.1629+7A> G single nucleotide variant Benign rs151288166 GRCh38 Chromosome 9, 97465035: 97465035
4 TDRD7 NM_014290.2(TDRD7): c.912G> A (p.Lys304=) single nucleotide variant Benign/Likely benign rs78579695 GRCh38 Chromosome 9, 97460234: 97460234
5 TDRD7 NM_014290.2(TDRD7): c.912G> A (p.Lys304=) single nucleotide variant Benign/Likely benign rs78579695 GRCh37 Chromosome 9, 100222516: 100222516
6 TDRD7 NM_014290.2(TDRD7): c.1923G> A (p.Lys641=) single nucleotide variant Benign/Likely benign rs41281938 GRCh38 Chromosome 9, 97472474: 97472474
7 TDRD7 NM_014290.2(TDRD7): c.1923G> A (p.Lys641=) single nucleotide variant Benign/Likely benign rs41281938 GRCh37 Chromosome 9, 100234756: 100234756
8 TDRD7 NM_014290.2(TDRD7): c.1129delG (p.Ala377Profs) deletion Pathogenic rs765628635 GRCh37 Chromosome 9, 100222733: 100222733
9 TDRD7 NM_014290.2(TDRD7): c.1129delG (p.Ala377Profs) deletion Pathogenic rs765628635 GRCh38 Chromosome 9, 97460451: 97460451
10 TDRD7 NM_014290.2(TDRD7): c.689dup (p.Tyr230Terfs) duplication Pathogenic rs1554744860 GRCh38 Chromosome 9, 97441709: 97441709
11 TDRD7 NM_014290.2(TDRD7): c.689dup (p.Tyr230Terfs) duplication Pathogenic rs1554744860 GRCh37 Chromosome 9, 100203991: 100203991
12 TDRD7 NM_014290.2(TDRD7): c.328dup (p.Thr110Asnfs) duplication Pathogenic rs1554743428 GRCh37 Chromosome 9, 100193335: 100193335
13 TDRD7 NM_014290.2(TDRD7): c.328dup (p.Thr110Asnfs) duplication Pathogenic rs1554743428 GRCh38 Chromosome 9, 97431053: 97431053
14 TDRD7 NM_014290.2(TDRD7): c.2104T> A (p.Ser702Thr) single nucleotide variant Uncertain significance rs946019953 GRCh38 Chromosome 9, 97475407: 97475407
15 TDRD7 NM_014290.2(TDRD7): c.2104T> A (p.Ser702Thr) single nucleotide variant Uncertain significance rs946019953 GRCh37 Chromosome 9, 100237689: 100237689
16 TDRD7 NM_014290.2(TDRD7): c.3004A> G (p.Ile1002Val) single nucleotide variant Uncertain significance rs202206922 GRCh37 Chromosome 9, 100249542: 100249542
17 TDRD7 NM_014290.2(TDRD7): c.3004A> G (p.Ile1002Val) single nucleotide variant Uncertain significance rs202206922 GRCh38 Chromosome 9, 97487260: 97487260
18 TDRD7 NM_014290.2(TDRD7): c.2079+9G> A single nucleotide variant Benign rs375910025 GRCh38 Chromosome 9, 97473635: 97473635
19 TDRD7 NM_014290.2(TDRD7): c.2079+9G> A single nucleotide variant Benign rs375910025 GRCh37 Chromosome 9, 100235917: 100235917
20 TDRD7 NM_014290.2(TDRD7): c.231C> T (p.Cys77=) single nucleotide variant Benign rs143579801 GRCh37 Chromosome 9, 100193238: 100193238
21 TDRD7 NM_014290.2(TDRD7): c.231C> T (p.Cys77=) single nucleotide variant Benign rs143579801 GRCh38 Chromosome 9, 97430956: 97430956
22 TDRD7 NM_014290.2(TDRD7): c.189G> C (p.Glu63Asp) single nucleotide variant Uncertain significance rs144477083 GRCh38 Chromosome 9, 97428654: 97428654
23 TDRD7 NM_014290.2(TDRD7): c.189G> C (p.Glu63Asp) single nucleotide variant Uncertain significance rs144477083 GRCh37 Chromosome 9, 100190936: 100190936

Expression for Cataract 36

Search GEO for disease gene expression data for Cataract 36.

Pathways for Cataract 36

GO Terms for Cataract 36

Sources for Cataract 36

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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