VPED
MCID: VTR011
MIFTS: 16

Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia (VPED)

Categories: Genetic diseases

Aliases & Classifications for Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia

MalaCards integrated aliases for Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia:

Name: Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia 57 29 6
Vitreoretinopathy, with Phalangeal Epiphyseal Dysplasia 39
Vped 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
based on 16 patients in one family (last curated march 2021)
onset of hand arthropathy in puberty


Classifications:



External Ids:

OMIM® 57 619248

Summaries for Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia

MalaCards based summary : Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia, also known as vitreoretinopathy, with phalangeal epiphyseal dysplasia, is related to spondyloepiphyseal dysplasia with congenital joint dislocations and retinal detachment. An important gene associated with Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia is COL2A1 (Collagen Type II Alpha 1 Chain).

More information from OMIM: 619248

Related Diseases for Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia

Diseases related to Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spondyloepiphyseal dysplasia with congenital joint dislocations 10.3
2 retinal detachment 10.3
3 brachydactyly 10.3
4 arthropathy 10.3
5 vitreoretinopathy 10.3

Graphical network of the top 20 diseases related to Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia:



Diseases related to Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia

Symptoms & Phenotypes for Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
retinal detachment
lattice retinopathy

Growth Height:
normal stature

Skeletal Hands:
brachydactyly
arthropathy
phalangeal epiphyseal dysplasia
metacarpal epiphyseal dysplasia (rare)
carpal epiphyseal dysplasia (rare)

Skeletal Pelvis:
premature hip osteoarthritis

Clinical features from OMIM®:

619248 (Updated 05-Apr-2021)

Drugs & Therapeutics for Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia

Search Clinical Trials , NIH Clinical Center for Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia

Genetic Tests for Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia

Genetic tests related to Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia:

# Genetic test Affiliating Genes
1 Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia 29

Anatomical Context for Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia

Publications for Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia

Articles related to Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia:

(show all 14)
# Title Authors PMID Year
1
Vitreoretinopathy with phalangeal epiphyseal dysplasia, a type II collagenopathy resulting from a novel mutation in the C-propeptide region of the molecule. 61 6 57
12205109 2002
2
Meticulous multimodal analysis of aflibercept therapy for submacular vascularized pigment epithelial detachment associated with neovascular AMD in a prospective case series, the EVEN study. 61
33024885 2020
3
Prospective PED-study of intravitreal aflibercept for refractory vascularized pigment epithelium detachment due to age-related macular degeneration: morphologic characteristics of non-responders in optical coherence tomography. 61
32306096 2020
4
Post-hoc analysis of single nucleotide polymorphism profile for eyes with vascularized pigment epithelial detachment due to ARMD. 61
32578437 2020
5
Virtual Pediatric Emergency Department Telehealth Network Program: A Case Series. 61
32355068 2020
6
COMBINING EN FACE OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY WITH STRUCTURAL OPTICAL COHERENCE TOMOGRAPHY AND BLOOD FLOW ANALYSIS FOR DETECTING CHOROIDAL NEOVASCULAR COMPLEXES IN PIGMENT EPITHELIAL DETACHMENTS. 61
29863533 2019
7
Ranibizumab versus aflibercept for the treatment of vascularized pigment epithelium detachment due to age-related macular degeneration. 61
29404860 2019
8
Response of vascular pigment epithelium detachment due to age-related macular degeneration to monthly treatment with ranibizumab: the prospective, multicentre RECOVER study. 61
28084038 2017
9
Earlier therapeutic effects associated with high dose (2.0 mg) Ranibizumab for treatment of vascularized pigment epithelial detachments in age-related macular degeneration. 61
25277305 2015
10
Pigment epithelial tears associated with anti-VEGF therapy: incidence, long-term visual outcome, and relationship with pigment epithelial detachment in age-related macular degeneration. 61
24296398 2014
11
Alternative diagnosis for cases presented as vPED treated with high-dose ranibizumab. 61
23079757 2012
12
High-dose ranibizumab therapy for vascularized pigment epithelial detachment. 61
22576827 2012
13
Optical coherence tomography-measured pigment epithelial detachment height as a predictor for retinal pigment epithelial tears associated with intravitreal bevacizumab injections. 61
19952998 2010
14
[Value of indocyanine green angiography in localization of occult choroid neovascularization]. 61
8766040 1996

Variations for Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia

ClinVar genetic disease variations for Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COL2A1 NM_001844.5(COL2A1):c.3914G>A (p.Gly1305Asp) SNV Pathogenic 17387 rs121912887 GRCh37: 12:48368618-48368618
GRCh38: 12:47974835-47974835

Expression for Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia

Search GEO for disease gene expression data for Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia.

Pathways for Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia

GO Terms for Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia

Sources for Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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