CTRCT35
MCID: CTR159
MIFTS: 20

Cataract 35 (CTRCT35)

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

Aliases & Classifications for Cataract 35

MalaCards integrated aliases for Cataract 35:

Name: Cataract 35 58 12 30
Cataract, Congenital Nuclear, Autosomal Recessive 1 58 74
Cataract 35, Congenital Nuclear 58 12
Ctrct35 58 12
Catcn1 58 12
Cataract, Congenital Nuclear, Autosomal Recessive 1; Catcn1 58
Autosomal Recessive Congenital Nuclear Cataract 1 12

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
cataracts present at birth or develop in infancy


HPO:

33
cataract 35:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110261
OMIM 58 609376
ICD10 34 Q12.0
MedGen 43 C1836272
UMLS 74 C1836272

Summaries for Cataract 35

Disease Ontology : 12 A cataract that has material basis in variation in the region 19q13.

MalaCards based summary : Cataract 35, also known as cataract, congenital nuclear, autosomal recessive 1, is related to cataract. An important gene associated with Cataract 35 is CTRCT35 (Cataract, Congenital Nuclear, Autosomal Recessive). Affiliated tissues include eye, and related phenotype is cataract.

Description from OMIM: 609376

Related Diseases for Cataract 35

Symptoms & Phenotypes for Cataract 35

Human phenotypes related to Cataract 35:

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

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
bilateral nuclear cataract, congenital

Clinical features from OMIM:

609376

Drugs & Therapeutics for Cataract 35

Search Clinical Trials , NIH Clinical Center for Cataract 35

Genetic Tests for Cataract 35

Genetic tests related to Cataract 35:

# Genetic test Affiliating Genes
1 Cataract 35 30

Anatomical Context for Cataract 35

MalaCards organs/tissues related to Cataract 35:

42
Eye

Publications for Cataract 35

Variations for Cataract 35

Expression for Cataract 35

Search GEO for disease gene expression data for Cataract 35.

Pathways for Cataract 35

GO Terms for Cataract 35

Sources for Cataract 35

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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