MCID: CTR159
MIFTS: 20

Cataract 35

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

Aliases & Classifications for Cataract 35

MalaCards integrated aliases for Cataract 35:

Name: Cataract 35 57 12 29
Cataract, Congenital Nuclear, Autosomal Recessive 1 57 73
Cataract 35, Congenital Nuclear 57 12
Ctrct35 57 12
Catcn1 57 12
Cataract, Congenital Nuclear, Autosomal Recessive 1; Catcn1 57
Autosomal Recessive Congenital Nuclear Cataract 1 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
cataracts present at birth or develop in infancy


HPO:

32
cataract 35:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 609376
Disease Ontology 12 DOID:0110261
ICD10 33 Q12.0
MedGen 42 C1836272
UMLS 73 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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
bilateral nuclear cataract, congenital


Clinical features from OMIM:

609376

Human phenotypes related to Cataract 35:

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

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 29

Anatomical Context for Cataract 35

MalaCards organs/tissues related to Cataract 35:

41
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 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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