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 44 71
Pupillary Disorder 12


External Ids:

Disease Ontology 12 DOID:238
MeSH 44 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 charcot-marie-tooth disease, dominant intermediate a and charcot-marie-tooth disease, axonal, type 2w, and has symptoms including seizures, vertigo and mydriasis. An important gene associated with Pupil Disease is GDAP1 (Ganglioside Induced Differentiation Associated Protein 1). The drugs Remifentanil and Sevoflurane have been mentioned in the context of this disorder. Affiliated tissues include eye and pineal, and related phenotypes are Decreased viability and Decreased viability

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 51)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, dominant intermediate a 10.0 MPZ GDAP1
2 charcot-marie-tooth disease, axonal, type 2w 10.0 MPZ GDAP1
3 charcot-marie-tooth disease, dominant intermediate e 10.0 MPZ GDAP1
4 charcot-marie-tooth disease, axonal, type 2a1 10.0 MPZ GDAP1
5 charcot-marie-tooth disease, axonal, type 2i 10.0 MPZ GDAP1
6 charcot-marie-tooth disease intermediate type 10.0 MPZ GDAP1
7 charcot-marie-tooth disease, axonal, type 2l 10.0 MPZ GDAP1
8 charcot-marie-tooth disease, dominant intermediate c 10.0 MPZ GDAP1
9 charcot-marie-tooth disease, type 4b3 10.0 MPZ GDAP1
10 charcot-marie-tooth disease, demyelinating, type 1f 10.0 MPZ GDAP1
11 charcot-marie-tooth disease, dominant intermediate b 10.0 MPZ GDAP1
12 hereditary motor and sensory neuropathy, type iic 10.0 MPZ GDAP1
13 charcot-marie-tooth disease, axonal, type 2f 10.0 MPZ GDAP1
14 charcot-marie-tooth disease, type 4h 9.9 MPZ GDAP1
15 charcot-marie-tooth disease, axonal, type 2d 9.9 MPZ GDAP1
16 charcot-marie-tooth disease, axonal, type 2b 9.9 MPZ GDAP1
17 charcot-marie-tooth disease, type 4j 9.9 MPZ GDAP1
18 charcot-marie-tooth disease, axonal, type 2b2 9.9 MPZ GDAP1
19 neuropathy, hereditary motor and sensory, russe type 9.9 GDAP1 EGR2
20 charcot-marie-tooth disease, type 4c 9.9 MPZ GDAP1
21 charcot-marie-tooth disease, type 4b1 9.8 MPZ GDAP1
22 encephalitis 9.8
23 charcot-marie-tooth disease, x-linked recessive, 2 9.8 MPZ EGR2
24 polyneuropathy 9.7 MPZ GDAP1 ACHE
25 optic nerve disease 9.7 OPN4 GDAP1
26 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 9.6 MPZ EGR2
27 charcot-marie-tooth disease, axonal, type 2j 9.6 MPZ GDAP1 EGR2
28 charcot-marie-tooth disease 9.6 MPZ GDAP1 EGR2
29 tooth disease 9.6 MPZ GDAP1 EGR2
30 charcot-marie-tooth disease, demyelinating, type 1d 9.6 MPZ GDAP1 EGR2
31 charcot-marie-tooth disease type x 9.6 MPZ GDAP1 EGR2
32 charcot-marie-tooth disease, demyelinating, type 4f 9.6 MPZ GDAP1 EGR2
33 charcot-marie-tooth disease, x-linked dominant, 1 9.6 MPZ GDAP1 EGR2
34 charcot-marie-tooth disease, type 4a 9.6 MPZ GDAP1 EGR2
35 charcot-marie-tooth disease, type 4d 9.6 MPZ GDAP1 EGR2
36 charcot-marie-tooth disease, demyelinating, type 1b 9.6 MPZ GDAP1 EGR2
37 charcot-marie-tooth disease, demyelinating, type 1c 9.6 MPZ GDAP1 EGR2
38 charcot-marie-tooth disease, type 4b2 9.6 MPZ GDAP1 EGR2
39 charcot-marie-tooth disease, demyelinating, type 1a 9.6 MPZ GDAP1 EGR2
40 neuropathy, hereditary, with liability to pressure palsies 9.6 MPZ GDAP1 EGR2
41 hypertrophic neuropathy of dejerine-sottas 9.6 MPZ GDAP1 EGR2
42 sensory peripheral neuropathy 9.6 MPZ GDAP1 EGR2
43 charcot-marie-tooth disease and deafness 9.6 MPZ GDAP1 EGR2
44 waardenburg's syndrome 9.5 MPZ EGR2
45 neuropathy, congenital hypomyelinating, 1, autosomal recessive 9.5 MPZ GDAP1 EGR2
46 charcot-marie-tooth disease, axonal, type 2e 9.4 MPZ GDAP1 EGR2
47 argyll robertson pupil 9.4 MPZ GDAP1 EGR2 ARMC9
48 abnormal pupillary function 9.3 MPZ GDAP1 EGR2 ARMC9
49 neuromuscular disease 9.3 MPZ GDAP1 EGR2 ACHE
50 neuropathy 9.3 MPZ GDAP1 EGR2 ACHE

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, mydriasis, pain, tonic pupil, 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

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
Sevoflurane Approved, Vet_approved 28523-86-6 5206
Propofol Approved, Investigational, Vet_approved 2078-54-8 4943
4 Hypnotics and Sedatives
5 Platelet Aggregation Inhibitors
6 Anesthetics, Inhalation
7 Anesthetics, Intravenous
8 Anesthetics, General
9 Anesthetics

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 Comparison of Effects of Volatile and Intravenous Anesthetics on Pupillary Function During General Anesthesia in Children; a Prospective Observational Study. Recruiting NCT03987529
6 Impact of Acute Cerebral Diseases on the Autonomous Nervous System: Progression and Correlation to Therapy and Outcome Recruiting NCT02999659

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, 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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
70 Tocris
72 UMLS via Orphanet
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