CTRCT48
MCID: CTR187
MIFTS: 22

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 56 73 29 6
Ctrct48 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset of cataracts in infancy or early childhood


HPO:

31
cataract 48:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 618415
OMIM Phenotypic Series 56 PS116200

Summaries for Cataract 48

UniProtKB/Swiss-Prot : 73 Cataract 48: A form of cataract, an opacification of the crystalline lens of the eye that 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. CTRCT48 is an autosomal recessive form characterized by infantile or early-childhood onset.

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 and kidney, and related phenotypes are miosis and exotropia

OMIM : 56 Cataract-48 (CTRCT48) is characterized by infantile or early-childhood cataracts and visual impairment (Ansar et al., 2018). (618415)

Symptoms & Phenotypes for Cataract 48

Human phenotypes related to Cataract 48:

31
# Description HPO Frequency HPO Source Accession
1 miosis 31 HP:0000616
2 exotropia 31 HP:0000577
3 pendular nystagmus 31 HP:0012043

Symptoms via clinical synopsis from OMIM:

56
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

Genetic tests related to Cataract 48:

# Genetic test Affiliating Genes
1 Cataract 48 29 DNMBP

Anatomical Context for Cataract 48

MalaCards organs/tissues related to Cataract 48:

40
Eye, Kidney

Publications for Cataract 48

Articles related to Cataract 48:

# Title Authors PMID Year
1
Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts. 56 6
30290152 2018
2
A 10-year monitoring of the eyesight in patients after kidney transplantation. 61
29419683 2018
3
Clinical features of Fabry's disease in Australian patients. 61
12512750 2002
4
Outcome of 1000 consecutive clinic- and hospital-based cataract surgeries in a Danish county. 61
9719978 1998

Variations for Cataract 48

ClinVar genetic disease variations for Cataract 48:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DNMBP NM_015221.4(DNMBP):c.811C>T (p.Arg271Ter)SNV Pathogenic 626917 rs1564745688 10:101716420-101716420 10:99956663-99956663
2 DNMBP NM_015221.4(DNMBP):c.2947_2948del (p.Glu982_Asp983insTer)deletion Pathogenic 626918 rs1564722302 10:101656127-101656128 10:99896370-99896371
3 DNMBP NM_015221.4(DNMBP):c.2852_2855del (p.Thr951fs)deletion Pathogenic 626919 rs1564723150 10:101657908-101657911 10:99898151-99898154

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
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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