MCID: ABN004
MIFTS: 16

Abnormal Pupillary Function

Categories: Eye diseases

Aliases & Classifications for Abnormal Pupillary Function

MalaCards integrated aliases for Abnormal Pupillary Function:

Name: Abnormal Pupillary Function 12 15

Classifications:



External Ids:

Disease Ontology 12 DOID:11518
ICD9CM 34 379.49
ICD10 32 H57.09
UMLS 71 C0155376

Summaries for Abnormal Pupillary Function

MalaCards based summary : Abnormal Pupillary Function is related to argyll robertson pupil and enophthalmos. An important gene associated with Abnormal Pupillary Function is NT5C3A (5'-Nucleotidase, Cytosolic IIIA). Affiliated tissues include eye and heart.

Related Diseases for Abnormal Pupillary Function

Diseases related to Abnormal Pupillary Function via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 60)
# Related Disease Score Top Affiliating Genes
1 argyll robertson pupil 29.8 PTPRS PES1 NT5C3A MPZ GDAP1 ARMC9
2 enophthalmos 10.2 PES1 NT5C3A
3 orbital disease 10.1 PES1 NT5C3A
4 neuropathy, hereditary motor and sensory, russe type 10.0 GDAP1 EGR2
5 charcot-marie-tooth disease x-linked recessive 4 10.0 PES1 MPZ
6 exotropia 10.0 PES1 NT5C3A
7 esotropia 9.9 PES1 NT5C3A
8 charcot-marie-tooth disease, dominant intermediate a 9.9 MPZ GDAP1
9 charcot-marie-tooth disease, dominant intermediate e 9.9 MPZ GDAP1
10 charcot-marie-tooth disease, axonal, type 2a1 9.9 MPZ GDAP1
11 ocular motility disease 9.9 PES1 NT5C3A
12 charcot-marie-tooth disease, axonal, type 2l 9.9 MPZ GDAP1
13 charcot-marie-tooth disease, axonal, type 2cc 9.9 PES1 MPZ
14 charcot-marie-tooth disease, axonal, type 2f 9.9 MPZ GDAP1
15 charcot-marie-tooth disease intermediate type 9.9 MPZ GDAP1
16 charcot-marie-tooth disease, axonal, type 2b 9.9 MPZ GDAP1
17 charcot-marie-tooth disease, axonal, type 2b2 9.9 MPZ GDAP1
18 mononeuropathy 9.9 PES1 MPZ
19 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 9.9 MPZ EGR2
20 charcot-marie-tooth disease, dominant intermediate c 9.9 MPZ GDAP1
21 charcot-marie-tooth disease, dominant intermediate b 9.9 MPZ GDAP1
22 hereditary motor and sensory neuropathy, type iic 9.8 MPZ GDAP1
23 nerve compression syndrome 9.8 PES1 MPZ
24 charcot-marie-tooth disease, type 4h 9.8 MPZ GDAP1
25 charcot-marie-tooth disease, axonal, type 2d 9.8 MPZ GDAP1
26 charcot-marie-tooth disease, type 4b2 9.8 MPZ GDAP1
27 cranial nerve disease 9.8 PES1 NT5C3A
28 charcot-marie-tooth disease, type 4b1 9.8 MPZ GDAP1
29 motor peripheral neuropathy 9.7 PES1 GDAP1
30 charcot-marie-tooth disease, x-linked recessive, 2 9.6 PES1 MPZ EGR2
31 charcot-marie-tooth disease type 2a2a 9.6 PES1 MPZ GDAP1
32 charcot-marie-tooth disease, axonal, type 2i 9.6 PES1 MPZ GDAP1
33 charcot-marie-tooth disease, axonal, type 2q 9.6 PES1 MPZ EGR2
34 tooth disease 9.6 MPZ GDAP1 EGR2
35 neuropathy 9.6 MPZ GDAP1 EGR2
36 charcot-marie-tooth disease, demyelinating, type 1d 9.6 MPZ GDAP1 EGR2
37 charcot-marie-tooth disease, demyelinating, type 4f 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, type 4c 9.5 MPZ GDAP1 EGR2
41 charcot-marie-tooth disease, demyelinating, type 1c 9.5 MPZ GDAP1 EGR2
42 optic nerve disease 9.5 PES1 GDAP1
43 polyneuropathy 9.5 MPZ GDAP1 EGR2
44 charcot-marie-tooth disease/hereditary motor and sensory neuropathy 9.5 MPZ GDAP1 EGR2
45 ptosis 9.4 PES1 NT5C3A ARMC9
46 charcot-marie-tooth disease, axonal, type 2j 9.2 PES1 MPZ GDAP1 EGR2
47 charcot-marie-tooth disease 9.2 PES1 MPZ GDAP1 EGR2
48 charcot-marie-tooth disease type x 9.2 PES1 MPZ GDAP1 EGR2
49 charcot-marie-tooth disease, x-linked dominant, 1 9.2 PES1 MPZ GDAP1 EGR2
50 charcot-marie-tooth disease, demyelinating, type 1b 9.2 PES1 MPZ GDAP1 EGR2

Graphical network of the top 20 diseases related to Abnormal Pupillary Function:



Diseases related to Abnormal Pupillary Function

Symptoms & Phenotypes for Abnormal Pupillary Function

Drugs & Therapeutics for Abnormal Pupillary Function

Search Clinical Trials , NIH Clinical Center for Abnormal Pupillary Function

Genetic Tests for Abnormal Pupillary Function

Anatomical Context for Abnormal Pupillary Function

MalaCards organs/tissues related to Abnormal Pupillary Function:

40
Eye, Heart

Publications for Abnormal Pupillary Function

Articles related to Abnormal Pupillary Function:

# Title Authors PMID Year
1
Ophthalmologic impairment during adulthood in central congenital hypoventilation syndrome: a longitudinal cohort analysis of nine patients. 61
25113442 2014
2
Autonomic dysfunction in non-paraneoplastic sensory neuronopathy: beyond sensory abnormalities. 61
20820798 2011
3
Evaluation of autonomic imbalance in patients with heart failure: a preliminary study of pupillomotor function. 61
20104459 2010
4
Cholinergic deficiency in Alzheimer's and Parkinson's disease: evaluation with pupillometry. 61
19414041 2009
5
Pupil reaction to light in Alzheimer's disease: evaluation of pupil size changes and mobility. 61
18007114 2007
6
Tonic pupil and Czarnecki's sign following third nerve palsy. 61
1827462 1991
7
Pupillary and electroretinographic abnormalities in a family with neuronal intranuclear hyaline inclusion disease. 61
1848426 1991
8
Abnormal pupillary function in third nerve regeneration (the pseudo-Argyll robertson pupil). A case report. 61
6720273 1984

Variations for Abnormal Pupillary Function

Expression for Abnormal Pupillary Function

Search GEO for disease gene expression data for Abnormal Pupillary Function.

Pathways for Abnormal Pupillary Function

GO Terms for Abnormal Pupillary Function

Biological processes related to Abnormal Pupillary Function according to GeneCards Suite gene sharing:

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

Sources for Abnormal Pupillary Function

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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