MCID: CTR111
MIFTS: 20

Cataract 36

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

Aliases & Classifications for Cataract 36

MalaCards integrated aliases for Cataract 36:

Name: Cataract 36 57 12 75 73
Cataract, Autosomal Recessive Congenital 4 57 29 13 6
Ctrct36 57 12 75
Catc4 57 12 75
Autosomal Recessive Congenital Cataract 4 12 75
Cataract, Autosomal Recessive Congenital 4; Catc4 57
Cataract, Type 36 ) 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
no clinical details provided


HPO:

32
cataract 36:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 613887
Disease Ontology 12 DOID:0110247
MedGen 42 C3151304
MeSH 44 D002386
UMLS 73 C3151304

Summaries for Cataract 36

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
cataract


Clinical features from OMIM:

613887

Human phenotypes related to Cataract 36:

32
# Description HPO Frequency HPO Source Accession
1 cataract 32 HP:0000518

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:

41
Eye

Publications for Cataract 36

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 GRCh37 Chromosome 9, 100222516: 100222516
5 TDRD7 NM_014290.2(TDRD7): c.912G> A (p.Lys304=) single nucleotide variant Benign/Likely benign rs78579695 GRCh38 Chromosome 9, 97460234: 97460234
6 TDRD7 NM_014290.2(TDRD7): c.1923G> A (p.Lys641=) single nucleotide variant Benign/Likely benign rs41281938 GRCh37 Chromosome 9, 100234756: 100234756
7 TDRD7 NM_014290.2(TDRD7): c.1923G> A (p.Lys641=) single nucleotide variant Benign/Likely benign rs41281938 GRCh38 Chromosome 9, 97472474: 97472474
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 GRCh38 Chromosome 9, 97441709: 97441709
11 TDRD7 NM_014290.2(TDRD7): c.689dup (p.Tyr230Terfs) duplication Pathogenic GRCh37 Chromosome 9, 100203991: 100203991
12 TDRD7 NM_014290.2(TDRD7): c.328dup (p.Thr110Asnfs) duplication Pathogenic GRCh37 Chromosome 9, 100193335: 100193335
13 TDRD7 NM_014290.2(TDRD7): c.328dup (p.Thr110Asnfs) duplication Pathogenic 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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