CTRCT48
MCID: CTR187
MIFTS: 16

Cataract 48 (CTRCT48)

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

Aliases & Classifications for Cataract 48

MalaCards integrated aliases for Cataract 48:

Name: Cataract 48 58 6
Ctrct48 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset of cataracts in infancy or early childhood


Classifications:



External Ids:

OMIM 58 618415

Summaries for Cataract 48

OMIM : 58 Cataract-48 (CTRCT48) is characterized by infantile or early-childhood cataracts and visual impairment (Ansar et al., 2018). (618415)

MalaCards based summary : Cataract 48, is also known as ctrct48. An important gene associated with Cataract 48 is DNMBP (Dynamin Binding Protein). Affiliated tissues include eye.

Symptoms & Phenotypes for Cataract 48

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
exotropia
pendular nystagmus
bilateral cataracts
divergent squint
reduced vision at birth
more

Clinical features from OMIM:

618415

Drugs & Therapeutics for Cataract 48

Search Clinical Trials , NIH Clinical Center for Cataract 48

Genetic Tests for Cataract 48

Anatomical Context for Cataract 48

MalaCards organs/tissues related to Cataract 48:

42
Eye

Publications for Cataract 48

Variations for Cataract 48

ClinVar genetic disease variations for Cataract 48:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DNMBP NM_015221.4(DNMBP): c.811C> T (p.Arg271Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 10, 99956663: 99956663
2 DNMBP NM_015221.4(DNMBP): c.811C> T (p.Arg271Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 10, 101716420: 101716420
3 DNMBP NM_015221.4(DNMBP): c.2947_2948del (p.Asp983Terfs) deletion Pathogenic GRCh37 Chromosome 10, 101656127: 101656128
4 DNMBP NM_015221.4(DNMBP): c.2947_2948del (p.Asp983Terfs) deletion Pathogenic GRCh38 Chromosome 10, 99896370: 99896371
5 DNMBP NM_015221.4(DNMBP): c.2852_2855del (p.Thr951Metfs) deletion Pathogenic GRCh38 Chromosome 10, 99898151: 99898154
6 DNMBP NM_015221.4(DNMBP): c.2852_2855del (p.Thr951Metfs) deletion Pathogenic GRCh37 Chromosome 10, 101657908: 101657911

Expression for Cataract 48

Search GEO for disease gene expression data for Cataract 48.

Pathways for Cataract 48

GO Terms for Cataract 48

Sources for Cataract 48

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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