Pupil Disease

Categories: Eye diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Pupil Disease

MalaCards integrated aliases for Pupil Disease:

Name: Pupil Disease 12 15
Pupil Disorders 43 71
Pupillary Disorder 12


External Ids:

Disease Ontology 12 DOID:238
MeSH 43 D011681
SNOMED-CT 67 68633000
UMLS 71 C0034124

Summaries for Pupil Disease

MalaCards based summary : Pupil Disease, also known as pupil disorders, is related to neuropathy and neuropathy, hereditary motor and sensory, russe type, and has symptoms including seizures, vertigo and tonic pupil. An important gene associated with Pupil Disease is PTPRS (Protein Tyrosine Phosphatase Receptor Type S). The drugs Remifentanil and Propofol have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and testes, and related phenotypes are Decreased viability and Decreased viability

Wikipedia : 74 The pupil is a black hole located in the center of the iris of the eye that allows light to strike the... more...

Related Diseases for Pupil Disease

Diseases in the Pupil Disease family:

Rare Disorder of the Pupil

Diseases related to Pupil Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 61)
# Related Disease Score Top Affiliating Genes
1 neuropathy 29.1 MPZ GDAP1 EGR2
2 neuropathy, hereditary motor and sensory, russe type 10.0 GDAP1 EGR2
3 charcot-marie-tooth disease x-linked recessive 4 10.0 PES1 MPZ
4 charcot-marie-tooth disease, dominant intermediate a 10.0 MPZ GDAP1
5 charcot-marie-tooth disease, axonal, type 2w 10.0 MPZ GDAP1
6 charcot-marie-tooth disease, dominant intermediate e 10.0 MPZ GDAP1
7 charcot-marie-tooth disease, axonal, type 2a1 10.0 MPZ GDAP1
8 charcot-marie-tooth disease, axonal, type 2i 9.9 MPZ GDAP1
9 syphilis 9.9
10 charcot-marie-tooth disease, axonal, type 2l 9.9 MPZ GDAP1
11 charcot-marie-tooth disease intermediate type 9.9 MPZ GDAP1
12 charcot-marie-tooth disease, type 4b3 9.9 MPZ GDAP1
13 charcot-marie-tooth disease, dominant intermediate c 9.9 MPZ GDAP1
14 charcot-marie-tooth disease, demyelinating, type 1f 9.9 MPZ GDAP1
15 charcot-marie-tooth disease, dominant intermediate b 9.9 MPZ GDAP1
16 mononeuropathy 9.9 PES1 MPZ
17 hereditary motor and sensory neuropathy, type iic 9.9 MPZ GDAP1
18 nerve compression syndrome 9.9 PES1 MPZ
19 charcot-marie-tooth disease, axonal, type 2f 9.9 MPZ GDAP1
20 charcot-marie-tooth disease, type 4h 9.9 MPZ GDAP1
21 charcot-marie-tooth disease, axonal, type 2d 9.9 MPZ GDAP1
22 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 9.9 MPZ EGR2
23 charcot-marie-tooth disease, axonal, type 2b 9.9 MPZ GDAP1
24 charcot-marie-tooth disease, axonal, type 2b2 9.8 MPZ GDAP1
25 charcot-marie-tooth disease, type 4b2 9.8 MPZ GDAP1
26 charcot-marie-tooth disease, type 4j 9.8 MPZ GDAP1
27 charcot-marie-tooth disease, type 4c 9.8 MPZ GDAP1
28 asthma 9.8
29 encephalitis 9.8
30 charcot-marie-tooth disease, type 4b1 9.8 MPZ GDAP1
31 anisocoria 9.8
32 optic nerve disease 9.7 PES1 OPN4 GDAP1
33 autosomal dominant distal hereditary motor neuronopathy 9.7 PES1 MPZ
34 charcot-marie-tooth disease, x-linked recessive, 2 9.6 PES1 MPZ EGR2
35 tooth disease 9.6 MPZ GDAP1 EGR2
36 charcot-marie-tooth disease, axonal, type 2j 9.6 MPZ GDAP1 EGR2
37 charcot-marie-tooth disease, demyelinating, type 1d 9.6 MPZ GDAP1 EGR2
38 charcot-marie-tooth disease, type 4a 9.6 MPZ GDAP1 EGR2
39 charcot-marie-tooth disease, type 4d 9.6 MPZ GDAP1 EGR2
40 charcot-marie-tooth disease, demyelinating, type 1c 9.6 MPZ GDAP1 EGR2
41 hereditary sensory neuropathy 9.6 MPZ GDAP1
42 polyneuropathy 9.6 MPZ GDAP1 EGR2
43 cranial nerve disease 9.6 PES1 OPN4
44 3-methylglutaconic aciduria, type iii 9.5 PES1 OPN4 GDAP1
45 charcot-marie-tooth disease/hereditary motor and sensory neuropathy 9.4 MPZ GDAP1 EGR2
46 charcot-marie-tooth disease type x 9.3 PES1 MPZ GDAP1 EGR2
47 charcot-marie-tooth disease 9.3 PES1 MPZ GDAP1 EGR2
48 charcot-marie-tooth disease, demyelinating, type 4f 9.3 PES1 MPZ GDAP1 EGR2
49 charcot-marie-tooth disease, x-linked dominant, 1 9.3 PES1 MPZ GDAP1 EGR2
50 charcot-marie-tooth disease, demyelinating, type 1b 9.3 PES1 MPZ GDAP1 EGR2

Graphical network of the top 20 diseases related to Pupil Disease:

Diseases related to Pupil Disease

Symptoms & Phenotypes for Pupil Disease

UMLS symptoms related to Pupil Disease:

seizures, vertigo, tonic pupil, mydriasis, pain, meningism, reflex, abnormal, neurobehavioral manifestations, neuromuscular manifestations, eye manifestations

GenomeRNAi Phenotypes related to Pupil Disease according to GeneCards Suite gene sharing:

# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00249-S 9.23 MPZ OPN4
2 Decreased viability GR00381-A-1 9.23 MPZ OPN4
3 Decreased viability GR00381-A-3 9.23 MPZ OPN4
4 Decreased viability GR00386-A-1 9.23 MPZ
5 Decreased viability GR00402-S-2 9.23 MPZ

MGI Mouse Phenotypes related to Pupil Disease:

# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.1 EGR2 GDAP1 MPZ OPN4 PES1 PTPRS

Drugs & Therapeutics for Pupil Disease

Drugs for Pupil Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Remifentanil Approved 132875-61-7 60815
Propofol Approved, Investigational, Vet_approved 2078-54-8 4943
Sevoflurane Approved, Vet_approved 28523-86-6 5206
4 Anesthetics, General
5 Platelet Aggregation Inhibitors
6 Anesthetics
7 Anesthetics, Intravenous
8 Hypnotics and Sedatives
9 Anesthetics, Inhalation

Interventional clinical trials:

# Name Status NCT ID Phase Drugs
1 The Influence of Gaze Shift and Emotions on Symptoms of Blepharospasm- a Pilot Study. Unknown status NCT01759745
2 Correlation of Pupillary Diameter Change With Age and Anterior Chamber Depth After Cataract Surgery Completed NCT04286646
3 New Automatic Portable Ophthalmology Device Completed NCT02772666
4 Alternative Apnea Test as the Method of Brain Death Diagnosis . Completed NCT03281993
5 Impact of Acute Cerebral Diseases on the Autonomous Nervous System: Progression and Correlation to Therapy and Outcome Recruiting NCT02999659
6 Comparison of Effects of Volatile and Intravenous Anesthetics on Pupillary Function During General Anesthesia in Children; a Prospective Observational Study. Not yet recruiting NCT03987529

Search NIH Clinical Center for Pupil Disease

Cochrane evidence based reviews: pupil disorders

Genetic Tests for Pupil Disease

Anatomical Context for Pupil Disease

MalaCards organs/tissues related to Pupil Disease:

Eye, Retina, Testes, Brain, Pineal

Publications for Pupil Disease

Articles related to Pupil Disease:

# Title Authors PMID Year
[Pupil disorders]. 61
30999363 2019
A cohort study on acute ocular motility disorders in pediatric emergency department. 61
29843812 2018
[Preoperative and postoperative ophthalmic symptoms in patients with space-occupying lesions of the midbrain and pineal region]. 61
29927424 2018
[Ophthalmic complications and local anesthesia. Pathophysiology and types of eye complications after intraoral dental anesthesia, and clinical recommendations]. 61
25428546 2014
[Optic neuropathies and peripheral oculomotor disorders in patients with AIDS]. 61
9064185 1996
Influence of pupil size, anisocoria, and ambient light on pilocarpine miosis. Implications for supersensitivity testing. 61
8437838 1993

Variations for Pupil Disease

Expression for Pupil Disease

Search GEO for disease gene expression data for Pupil Disease.

Pathways for Pupil Disease

GO Terms for Pupil Disease

Biological processes related to Pupil Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 myelination GO:0042552 8.62 MPZ EGR2

Sources for Pupil Disease

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
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