VIPB
MCID: VSL013
MIFTS: 14

Visual Impairment and Progressive Phthisis Bulbi (VIPB)

Categories: Eye diseases, Genetic diseases

Aliases & Classifications for Visual Impairment and Progressive Phthisis Bulbi

MalaCards integrated aliases for Visual Impairment and Progressive Phthisis Bulbi:

Name: Visual Impairment and Progressive Phthisis Bulbi 58 6
Vipb 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
based on report of 3 sibs from a consanguineous pakistani family (last curated january 2019)


Classifications:



External Ids:

OMIM 58 618283

Summaries for Visual Impairment and Progressive Phthisis Bulbi

OMIM : 58 Visual impairment and progressive phthisis bulbi is characterized by poor vision at birth, with development of bilateral phthisis by adulthood (Ansar et al., 2018). (618283)

MalaCards based summary : Visual Impairment and Progressive Phthisis Bulbi, also known as vipb, is related to cholera and blind hypotensive eye. An important gene associated with Visual Impairment and Progressive Phthisis Bulbi is MARK3 (Microtubule Affinity Regulating Kinase 3).

Related Diseases for Visual Impairment and Progressive Phthisis Bulbi

Diseases related to Visual Impairment and Progressive Phthisis Bulbi via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cholera 10.3
2 blind hypotensive eye 10.3

Symptoms & Phenotypes for Visual Impairment and Progressive Phthisis Bulbi

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
ptosis
reduced visual acuity
hypermetropia
cornea plana
impaired vision, congenital
more

Clinical features from OMIM:

618283

Drugs & Therapeutics for Visual Impairment and Progressive Phthisis Bulbi

Search Clinical Trials , NIH Clinical Center for Visual Impairment and Progressive Phthisis Bulbi

Genetic Tests for Visual Impairment and Progressive Phthisis Bulbi

Anatomical Context for Visual Impairment and Progressive Phthisis Bulbi

Publications for Visual Impairment and Progressive Phthisis Bulbi

Articles related to Visual Impairment and Progressive Phthisis Bulbi:

# Title Authors Year
1
Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3. ( 29771303 )
2018
2
Screening for inhibition of Vibrio cholerae VipA-VipB interaction identifies small-molecule compounds active against type VI secretion. ( 24798289 )
2014
3
ClpV recycles VipA/VipB tubules and prevents non-productive tubule formation to ensure efficient type VI protein secretion. ( 23289512 )
2013
4
A functional VipA-VipB interaction is required for the type VI secretion system activity of Vibrio cholerae O1 strain A1552. ( 23642157 )
2013
5
Remodelling of VipA/VipB tubules by ClpV-mediated threading is crucial for type VI protein secretion. ( 19131969 )
2009

Variations for Visual Impairment and Progressive Phthisis Bulbi

ClinVar genetic disease variations for Visual Impairment and Progressive Phthisis Bulbi:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MARK3 NM_001128918.3(MARK3): c.1708C> G (p.Arg570Gly) single nucleotide variant Pathogenic GRCh37 Chromosome 14, 103958235: 103958235
2 MARK3 NM_001128918.3(MARK3): c.1708C> G (p.Arg570Gly) single nucleotide variant Pathogenic GRCh38 Chromosome 14, 103491898: 103491898

Expression for Visual Impairment and Progressive Phthisis Bulbi

Search GEO for disease gene expression data for Visual Impairment and Progressive Phthisis Bulbi.

Pathways for Visual Impairment and Progressive Phthisis Bulbi

GO Terms for Visual Impairment and Progressive Phthisis Bulbi

Sources for Visual Impairment and Progressive Phthisis Bulbi

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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