MCID: ABN004
MIFTS: 15

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 35 379.49
ICD10 33 H57.09
UMLS 72 C0155376

Summaries for Abnormal Pupillary Function

MalaCards based summary : Abnormal Pupillary Function is related to argyll robertson pupil and charcot-marie-tooth disease, axonal, type 2q. An important gene associated with Abnormal Pupillary Function is GDAP1 (Ganglioside Induced Differentiation Associated Protein 1). Affiliated tissues include eye and heart.

Related Diseases for Abnormal Pupillary Function

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:

41
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. 38
25113442 2014
2
Autonomic dysfunction in non-paraneoplastic sensory neuronopathy: beyond sensory abnormalities. 38
20820798 2011
3
Evaluation of autonomic imbalance in patients with heart failure: a preliminary study of pupillomotor function. 38
20104459 2010
4
Cholinergic deficiency in Alzheimer's and Parkinson's disease: evaluation with pupillometry. 38
19414041 2009
5
Pupil reaction to light in Alzheimer's disease: evaluation of pupil size changes and mobility. 38
18007114 2007
6
Tonic pupil and Czarnecki's sign following third nerve palsy. 38
1827462 1991
7
Pupillary and electroretinographic abnormalities in a family with neuronal intranuclear hyaline inclusion disease. 38
1848426 1991
8
Abnormal pupillary function in third nerve regeneration (the pseudo-Argyll robertson pupil). A case report. 38
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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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