MCID: PPL023
MIFTS: 27

Pupil Disease

Categories: Eye 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

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases


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 enophthalmos and orbital disease, and has symptoms including seizures, vertigo and pain. An important gene associated with Pupil Disease is NT5C3A (5'-Nucleotidase, Cytosolic IIIA). The drugs Dopamine and Methamphetamine have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and testes.

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 enophthalmos 10.2 PES1 NT5C3A
2 orbital disease 10.2 PES1 NT5C3A
3 exotropia 10.1 PES1 NT5C3A
4 esotropia 10.0 PES1 NT5C3A
5 congenital ptosis 10.0 NT5C3A ACHE
6 syphilis 9.9
7 ocular motility disease 9.9 PES1 NT5C3A
8 charcot-marie-tooth disease x-linked recessive 4 9.9 PES1 MPZ
9 charcot-marie-tooth disease, x-linked recessive, 2 9.9 PES1 MPZ
10 charcot-marie-tooth disease, dominant intermediate a 9.8 MPZ GDAP1
11 charcot-marie-tooth disease, dominant intermediate e 9.8 MPZ GDAP1
12 charcot-marie-tooth disease, axonal, type 2a1 9.8 MPZ GDAP1
13 charcot-marie-tooth disease, axonal, type 2cc 9.8 PES1 MPZ
14 charcot-marie-tooth disease, axonal, type 2l 9.8 MPZ GDAP1
15 charcot-marie-tooth disease, demyelinating, type 1d 9.8 MPZ GDAP1
16 charcot-marie-tooth disease, axonal, type 2f 9.8 MPZ GDAP1
17 charcot-marie-tooth disease intermediate type 9.8 MPZ GDAP1
18 charcot-marie-tooth disease, axonal, type 2b 9.8 MPZ GDAP1
19 mononeuropathy 9.8 PES1 MPZ
20 charcot-marie-tooth disease, axonal, type 2b2 9.8 MPZ GDAP1
21 charcot-marie-tooth disease, demyelinating, type 4f 9.8 MPZ GDAP1
22 charcot-marie-tooth disease, dominant intermediate c 9.8 MPZ GDAP1
23 asthma 9.8
24 neuropathy 9.8
25 encephalitis 9.8
26 charcot-marie-tooth disease, dominant intermediate b 9.8 MPZ GDAP1
27 charcot-marie-tooth disease, type 4a 9.8 MPZ GDAP1
28 hereditary motor and sensory neuropathy, type iic 9.8 MPZ GDAP1
29 cranial nerve disease 9.8 PES1 OPN4 NT5C3A
30 nerve compression syndrome 9.8 PES1 MPZ
31 charcot-marie-tooth disease, type 4h 9.8 MPZ GDAP1
32 charcot-marie-tooth disease, axonal, type 2d 9.8 MPZ GDAP1
33 charcot-marie-tooth disease, axonal, type 2q 9.8 PES1 MPZ
34 charcot-marie-tooth disease, type 4b2 9.8 MPZ GDAP1
35 motor peripheral neuropathy 9.8 PES1 GDAP1
36 charcot-marie-tooth disease, type 4d 9.8 MPZ GDAP1
37 charcot-marie-tooth disease, type 4b1 9.7 MPZ GDAP1
38 charcot-marie-tooth disease, type 4c 9.7 MPZ GDAP1
39 charcot-marie-tooth disease, demyelinating, type 1c 9.7 MPZ GDAP1
40 optic nerve disease 9.7 PES1 OPN4 GDAP1
41 ptosis 9.7 PES1 NT5C3A ARMC9
42 charcot-marie-tooth disease type 2a2a 9.6 PES1 MPZ GDAP1
43 charcot-marie-tooth disease, axonal, type 2j 9.6 PES1 MPZ GDAP1
44 charcot-marie-tooth disease, axonal, type 2i 9.6 PES1 MPZ GDAP1
45 charcot-marie-tooth disease type x 9.6 PES1 MPZ GDAP1
46 orthostatic intolerance 9.6 PES1 ACHE
47 charcot-marie-tooth disease, x-linked dominant, 1 9.6 PES1 MPZ GDAP1
48 charcot-marie-tooth disease, demyelinating, type 1b 9.6 PES1 MPZ GDAP1
49 charcot-marie-tooth disease, demyelinating, type 1a 9.6 PES1 MPZ GDAP1
50 neuropathy, hereditary, with liability to pressure palsies 9.5 PES1 MPZ GDAP1

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

Drugs & Therapeutics for Pupil Disease

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

(show all 23)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved 51-61-6, 62-31-7 681
2
Methamphetamine Approved, Illicit 537-46-2 10836
3
Remifentanil Approved 132875-61-7 60815
4
Propofol Approved, Investigational, Vet_approved 2078-54-8 4943
5
Sevoflurane Approved, Vet_approved 28523-86-6 5206
6
Desflurane Approved 57041-67-5 42113
7 Neurotransmitter Agents
8 Sympathomimetics
9 Dopamine Uptake Inhibitors
10 Central Nervous System Stimulants
11 Dopamine Agents
12 Autonomic Agents
13 Adrenergic Agents
14 Anesthetics
15 Narcotics
16 Hypnotics and Sedatives
17 Platelet Aggregation Inhibitors
18 Anesthetics, General
19 Analgesics, Opioid
20 Central Nervous System Depressants
21 Anesthetics, Intravenous
22 Anesthetics, Inhalation
23 Analgesics

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 Alternative Apnea Test as the Method of Brain Death Diagnosis . Completed NCT03281993
3 New Automatic Portable Ophthalmology Device Completed NCT02772666
4 Impact of Acute Cerebral Diseases on the Autonomous Nervous System: Progression and Correlation to Therapy and Outcome Recruiting NCT02999659
5 Comparison of Effects of Volatile and Intravenous Anesthetics on Pupillary Function During General Anesthesia in Children; a Prospective, Observational, Randomized Controlled Trial. 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:

40
Eye, Retina, Testes, Brain, Pineal

Publications for Pupil Disease

Articles related to Pupil Disease:

# Title Authors PMID Year
1
[Pupil disorders]. 61
30999363 2019
2
A cohort study on acute ocular motility disorders in pediatric emergency department. 61
29843812 2018
3
[Preoperative and postoperative ophthalmic symptoms in patients with space-occupying lesions of the midbrain and pineal region]. 61
29927424 2018
4
[Ophthalmic complications and local anesthesia. Pathophysiology and types of eye complications after intraoral dental anesthesia, and clinical recommendations]. 61
25428546 2014
5
[Optic neuropathies and peripheral oculomotor disorders in patients with AIDS]. 61
9064185 1996
6
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

Sources for Pupil Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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