MCID: DSS006
MIFTS: 26

Disuse Amblyopia malady

Categories: Eye diseases

Aliases & Classifications for Disuse Amblyopia

Aliases & Descriptions for Disuse Amblyopia:

Name: Disuse Amblyopia 12 14
Stimulus Deprivation Amblyopia 69
Deprivation Amblyopia 12

Classifications:



External Ids:

Disease Ontology 12 DOID:10378
ICD10 33 H53.01
ICD9CM 35 368.02
SNOMED-CT 64 193638002 21457000
UMLS 69 C0152189

Summaries for Disuse Amblyopia

MalaCards based summary : Disuse Amblyopia, also known as stimulus deprivation amblyopia, is related to amyotrophic neuralgia and prolymphocytic leukemia. An important gene associated with Disuse Amblyopia is PLXNA2 (Plexin A2), and among its related pathways/superpathways are Ectoderm Differentiation and Hedgehog Pathway. Affiliated tissues include eye, and related phenotypes are behavior/neurological and cellular

Related Diseases for Disuse Amblyopia

Diseases related to Disuse Amblyopia via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 amyotrophic neuralgia 10.1 CHN1 DPT PLXNA2
2 prolymphocytic leukemia 10.1 CHN1 DPT
3 amblyopia 10.0
4 blepharoptosis, myopia, and ectopia lentis 10.0 F2 SHH
5 cataract 9.9
6 joubert syndrome-3 9.9 FGF13 FGF2
7 immature teratoma of ovary 9.9 FGF13 FGF2
8 secondary hypertrophic osteoarthropathy 7.7 ATP7B CADM1 CHN1 CSAD DDT DPT

Graphical network of the top 20 diseases related to Disuse Amblyopia:



Diseases related to Disuse Amblyopia

Symptoms & Phenotypes for Disuse Amblyopia

MGI Mouse Phenotypes related to Disuse Amblyopia:

44 (show all 11)
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.34 ATP7B CADM1 CHN1 CSAD F2 FGF13
2 cellular MP:0005384 10.26 ATP7B CADM1 CHN1 FGF13 FGF2 FOS
3 growth/size/body region MP:0005378 10.23 ATP7B CADM1 CHN1 DPT F2 FOS
4 nervous system MP:0003631 10.2 F2 FGF13 FGF2 FOS FOXA2 GLI2
5 mortality/aging MP:0010768 10.18 ATP7B CHN1 CSAD F2 FGF13 FGF2
6 integument MP:0010771 10.03 ATP7B DPT F2 FOS FOXA2 GLI2
7 normal MP:0002873 9.86 CADM1 CHN1 EPHA2 F2 FOS FOXA2
8 neoplasm MP:0002006 9.85 EPHA2 FGF2 FOS FOXA2 GRM1 SHH
9 reproductive system MP:0005389 9.85 F2 FGF2 FOS FOXA2 GLI2 GRM1
10 skeleton MP:0005390 9.61 CHN1 EPHA2 F2 FGF2 FOS FOXA2
11 vision/eye MP:0005391 9.28 DPT EPHA2 FGF2 FOS FOXA2 GLI2

Drugs & Therapeutics for Disuse Amblyopia

Interventional clinical trials:


id Name Status NCT ID Phase
1 Effectiveness of Telescopic Magnification in the Treatment of Amblyopia Completed NCT00970554 Phase 1, Phase 2

Search NIH Clinical Center for Disuse Amblyopia

Genetic Tests for Disuse Amblyopia

Anatomical Context for Disuse Amblyopia

MalaCards organs/tissues related to Disuse Amblyopia:

39
Eye

Publications for Disuse Amblyopia

Variations for Disuse Amblyopia

Expression for Disuse Amblyopia

Search GEO for disease gene expression data for Disuse Amblyopia.

Pathways for Disuse Amblyopia

GO Terms for Disuse Amblyopia

Cellular components related to Disuse Amblyopia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 neuron projection GO:0043005 8.92 CADM1 FGF13 FOS GRM1

Biological processes related to Disuse Amblyopia according to GeneCards Suite gene sharing:

(show all 20)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.95 FGF2 FOS FOXA2 GLI2 SHH
2 multicellular organism development GO:0007275 9.91 CADM1 EPHA2 F2 FGF2 FOXA2 GLI2
3 positive regulation of cell proliferation GO:0008284 9.85 F2 FGF2 GLI2 SDCBP SHH
4 ephrin receptor signaling pathway GO:0048013 9.65 CHN1 EPHA2 SDCBP
5 hindbrain development GO:0030902 9.59 GLI2 SHH
6 spinal cord motor neuron differentiation GO:0021522 9.58 GLI2 SHH
7 regulation of blood coagulation GO:0030193 9.58 F2 FOXA2
8 osteoblast development GO:0002076 9.57 GLI2 SHH
9 anatomical structure formation involved in morphogenesis GO:0048646 9.56 GLI2 SHH
10 anatomical structure development GO:0048856 9.54 GLI2 SHH
11 embryonic morphogenesis GO:0048598 9.52 FGF2 SHH
12 cell fate specification GO:0001708 9.51 FOXA2 SHH
13 dorsal/ventral neural tube patterning GO:0021904 9.49 GLI2 SHH
14 positive regulation of T cell differentiation in thymus GO:0033089 9.43 GLI2 SHH
15 neural tube development GO:0021915 9.43 EPHA2 GLI2 PLXNA2
16 limb bud formation GO:0060174 9.4 PLXNA2 SHH
17 spinal cord dorsal/ventral patterning GO:0021513 9.32 GLI2 SHH
18 smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation GO:0021938 9.16 GLI2 SHH
19 hindgut morphogenesis GO:0007442 8.96 GLI2 SHH
20 ventral midline development GO:0007418 8.62 GLI2 SHH

Sources for Disuse Amblyopia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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