ADIEP
MCID: ADP007
MIFTS: 39

Adie Pupil (ADIEP)

Categories: Eye diseases, Infectious diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Adie Pupil

MalaCards integrated aliases for Adie Pupil:

Name: Adie Pupil 56 73
Adie Syndrome 56 12 74 52 58 73 29 43 15 17 71
Holmes-Adie Syndrome 12 52 53 58 73
Adie's Syndrome 12 53
Adie's Pupil 52 53
Tonic Pupil 73 43
Tonic, Sluggishly Reacting Pupil and Hypoactive or Absent Tendon Reflexes 52
Tonic Pupil-Tendon Areflexia Syndrome 58
Adie's Pupil or Syndrome 12
Poorly Reacting Pupils 56
Adie's Pupil Syndrome 12
Adiep 73
Has 52

Characteristics:

Orphanet epidemiological data:

58
holmes-adie syndrome
Inheritance: Not applicable; Prevalence: 1-9/100000 (United States); Age of onset: Adult; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
adie pupil:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:11549
OMIM 56 103100
NCIt 49 C34357
SNOMED-CT 67 24225004
ICD10 via Orphanet 33 H57.0
UMLS via Orphanet 72 C0001519
Orphanet 58 ORPHA454718
SNOMED-CT via HPO 68 263681008 405946002
UMLS 71 C0001519

Summaries for Adie Pupil

NINDS : 53 Holmes-Adie syndrome (HAS) is a neurological disorder affecting the pupil of the eye and the autonomic nervous system.  It is characterized by one eye with a pupil that is larger than normal and constricts slowly in bright light  (tonic pupil), along with the absence of deep tendon reflexes, usually in the Achilles tendon.   HAS is thought to be the result of a neurotrophic (acting on neurons, or nerve cells) viral infection that causes inflammation and damage to neurons in theciliary ganglion, an area of the brain that controls eye movements, and the dorsal root ganglion, an area of the spinal cord involved in the response of the autonomic nervous system.  HAS begins gradually in one eye, and often progresses to involve the other eye.  At first, it may only cause the loss of deep tendon reflexes on one side of the body, but then progress to the other side.  The eye and reflex symptoms may not appear at the same time.  People with HAS may also sweat excessively, sometimes only on one side of the body.  The combination of these 3 symptoms – abnormal pupil size, loss of deep tendon reflexes, and excessive sweating – is usually called Ross’s syndrome, although some doctors will still diagnose the condition as a variant of HAS.  Some individuals will also have cardiovascular abnormalities.  The HAS symptoms can appear on their own, or in association with other diseases of the nervous system, such as Sjogren’s syndrome or migraine.  It is most often seen in young women.  It is rarely an inherited condition.

MalaCards based summary : Adie Pupil, also known as adie syndrome, is related to charcot-marie-tooth disease, demyelinating, type 1a and charcot-marie-tooth disease, axonal, type 2a1, and has symptoms including tonic pupil An important gene associated with Adie Pupil is MPZ (Myelin Protein Zero). Affiliated tissues include brain, eye and bone, and related phenotypes are hyporeflexia and tonic pupil

Disease Ontology : 12 A syndrome that is a neurological disorder affecting the pupil of the eye and the autonomic nervous system. It is characterized by one eye with a pupil that is larger than normal and constricts slowly in bright light (tonic pupil), along with the absence of deep tendon reflexes, usually in the Achilles tendon.

NIH Rare Diseases : 52 Adie syndrome is is a neurological disorder affecting the pupil of the eye and the autonomic nervous system . It is characterized by one eye with a pupil that is larger than normal that constricts slowly in bright light (tonic pupil), along with the absence of deep tendon reflexes, usually in the Achilles tendon . In most cases, the cause of Adie syndrome is unknown. Some cases may result from trauma, surgery, lack of blood flow, or infection. Treatment may not be necessary. Glasses and eye drops may help when treatmend is needed. The term Adie syndrome is used when both the pupil and deep tendon reflexes are affected. When only the pupil is affected, the disorder may be referred to as Adie's pupil.

OMIM : 56 Adie pupil is a pupillary dysfunction characterized by a poor pupillary light reaction, reduced accommodation, sector palsies of the iris, and enhanced pupillary response to near effort (i.e., attempting to focus on a near object) (summary by Triggs et al., 2006). (103100)

UniProtKB/Swiss-Prot : 73 Adie pupil: A stationary, benign disorder characterized by tonic, sluggishly reacting pupil and hypoactive or absent tendon reflexes. Adie pupil is a characteristic of Charcot-Marie-Tooth disease type 2J.

Wikipedia : 74 Adie syndrome also known as the Holmes-Adie syndrome is a neurological disorder characterized by a... more...

Related Diseases for Adie Pupil

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

(show top 50) (show all 6989)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, demyelinating, type 1a 30.7 MPZ ARHGEF10
2 charcot-marie-tooth disease, axonal, type 2a1 30.2 MPZ ARHGEF10
3 charcot-marie-tooth disease, type 4h 30.1 MPZ ARHGEF10
4 neuropathy, hereditary, with liability to pressure palsies 30.0 MPZ ARHGEF10
5 charcot-marie-tooth disease and deafness 29.9 MPZ ARHGEF10
6 neuropathy, congenital hypomyelinating, 1, autosomal recessive 29.8 MPZ ARHGEF10
7 sensory peripheral neuropathy 29.7 MPZ ARHGEF10
8 peripheral nervous system disease 29.7 MPZ ARHGEF10
9 constipation 29.6 VIP CASK
10 mononeuropathy 29.0 MPZ ARHGEF10
11 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 12.0
12 hyperinsulinemic hypoglycemia, familial, 6 11.9
13 tay-sachs disease 11.7
14 hepatic adenomas, familial 11.5
15 aortic aneurysm 11.5
16 pallister-hall syndrome 11.5
17 charcot-marie-tooth disease, axonal, type 2j 11.4
18 cataract 42 11.2
19 renal tubular acidosis, distal, with hemolytic anemia 11.2
20 hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency 11.2
21 hemiparkinsonism-hemiatrophy syndrome 11.2
22 hemidystonia-hemiatrophy syndrome 11.2
23 hinman syndrome 11.2
24 hepatitis c 11.1
25 avian influenza 11.1
26 influenza 11.1
27 ebola hemorrhagic fever 11.1
28 herpes zoster 11.0
29 toxic shock syndrome 11.0
30 poliomyelitis 11.0
31 korean hemorrhagic fever 11.0
32 hepatitis b 11.0
33 swine influenza 11.0
34 hepatitis e 11.0
35 hepatitis d 11.0
36 human immunodeficiency virus infectious disease 11.0
37 hepatitis a 11.0
38 crimean-congo hemorrhagic fever 11.0
39 rabies 11.0
40 newcastle disease 11.0
41 early congenital syphilis 11.0
42 hantavirus hemorrhagic fever with renal syndrome 10.9
43 human immunodeficiency virus type 1 10.9
44 yellow fever 10.9
45 spondyloarthropathy 1 10.9
46 melanoma 10.9
47 pulmonary tuberculosis 10.9
48 dengue disease 10.9
49 vaccinia 10.9
50 japanese encephalitis 10.9

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



Diseases related to Adie Pupil

Symptoms & Phenotypes for Adie Pupil

Human phenotypes related to Adie Pupil:

31
# Description HPO Frequency HPO Source Accession
1 hyporeflexia 31 HP:0001265
2 tonic pupil 31 HP:0012074

Symptoms via clinical synopsis from OMIM:

56
Neuro:
hyporeflexia

Misc:
stationary, harmless disorder

Eyes:
sluggish pupillary response
mecholyl-sensitive pupil

Clinical features from OMIM:

103100

UMLS symptoms related to Adie Pupil:


tonic pupil

Drugs & Therapeutics for Adie Pupil

Search Clinical Trials , NIH Clinical Center for Adie Pupil

Cochrane evidence based reviews: adie syndrome

Genetic Tests for Adie Pupil

Genetic tests related to Adie Pupil:

# Genetic test Affiliating Genes
1 Adie Syndrome 29

Anatomical Context for Adie Pupil

MalaCards organs/tissues related to Adie Pupil:

40
Brain, Eye, Bone, T Cells, Thyroid, Heart, Breast

Publications for Adie Pupil

Articles related to Adie Pupil:

(show top 50) (show all 124)
# Title Authors PMID Year
1
On the cause of hyporeflexia in the Holmes-Adie syndrome. 61 56
3340290 1988
2
Case records of the Massachusetts General Hospital. Case 18-2006. A 57-year-old woman with numbness and weakness of the feet and legs. 56
16775239 2006
3
The pathology of Adie's syndrome. 56
4177586 1968
4
Adie's syndrome: duration of methacholine sensitivity. 56
5838361 1965
5
Clinical and laboratory correlates of selective autonomic dysfunction due to Ross syndrome. 61
31143750 2019
6
More than Ophelia syndrome: Multiple paraneoplastic syndromes in pediatric Hodgkin lymphoma. 61
31559737 2019
7
[Adie syndrome]. 61
31573561 2019
8
Adie pupil. Pilocarpine test. 61
29196034 2018
9
Sir Gordon Morgan Holmes (1876-1965): one of the founders of modern neurology. 61
29116546 2018
10
Areflexia in Holmes-Adie syndrome: A sign in search of its pathophysiology. 61
28939242 2017
11
Adie Pupil as the Initial Presentation of Localized En Coup de Sabre Scleroderma. 61
28668815 2017
12
Asymptomatic Severe Vagal and Sympathetic Cardiac Denervation in Holmes-Adie's Syndrome. 61
28428900 2017
13
Two Uncommon Paraneoplastic Neurological Syndromes in a Child With Hodgkin Lymphoma. 61
27164530 2016
14
Anisocoria after anesthesia induction caused by Adie syndrome. 61
25138821 2015
15
Harlequin syndrome: a mask of rare dysautonomic syndromes. 61
25933078 2015
16
A Rare Case in the Emergency Department: Holmes-Adie Syndrome. 61
27437522 2015
17
[Isolated Adie pupil: about a case]. 61
26213604 2015
18
William John Adie: the man behind the syndrome. 61
24533698 2014
19
Complete Vogt-Koyanagi-Harada disease and Holmes-Adie syndrome: case report. 61
24215593 2014
20
[Dysautonomic syndrome of the face with Harlequin sign and syndrome: Three new cases and a review of the literature]. 61
23726525 2013
21
Idiopathic harlequin syndrome: a pediatric case. 61
22638078 2013
22
Teaching video neuroimages: acute Adie syndrome. 61
22965679 2012
23
Onion grating as an alternative to pilocarpine drops in a patient with Adie pupil. 61
22581605 2012
24
[Tonic pupil, pupil Adie syndrome Adie Holmes: current reassessment of terminology -- a clinical case]. 61
23713338 2012
25
Progression of cardiovascular autonomic dysfunction in Holmes-Adie syndrome. 61
20562402 2011
26
Holmes-Adie syndrome associated with high altitude pulmonary edema and low chemo-responsiveness to hypoxia. 61
20845057 2011
27
Bilateral Holmes-Adie syndrome as an early manifestation of the HIV neuropathy. 61
20567990 2010
28
Anisocoria in liver recipients during the perioperative period: Two case reports. 61
20592466 2010
29
A new clinical sign in Holmes-Adie syndrome. 61
19219573 2009
30
[Adie syndrome and chronic nephropathy]. 61
19173212 2009
31
Pupillographic findings in 39 consecutive cases of harlequin syndrome. 61
18769278 2008
32
Holmes-Adie pupil in a patient with hemicrania: a spectrum of a multifocal autonomic dysfunction? 61
18641888 2008
33
Adie syndrome associated with general anesthesia. 61
18245077 2008
34
The pupil. 61
18180650 2008
35
Bilateral tonic pupils: Holmes Adie syndrome or generalised neuropathy? 61
17584996 2007
36
[A rare case of Holmes-Adie syndrome in a 60-year-old patient with a chronic cough cured in a laryngological way]. 61
18361323 2007
37
Chronic cough and Holmes-Adie syndrome. 61
17258674 2007
38
Ross syndrome: a rare or a misknown disorder of thermoregulation? A skin innervation study on 12 subjects. 61
16837483 2006
39
The Argyll Robertson pupil. 61
16845316 2006
40
Holmes-Adie syndrome, autoimmune hepatitis and celiac disease: a case report. 61
16552828 2006
41
[A case of autoimmune autonomic neuropathy with marked orthostatic hypotension, decreased salivation, constipation, and Adie pupil]. 61
16642934 2006
42
Pharmacological testing of anisocoria. 61
16197355 2005
43
[Tonic pupils in Sjögren's syndrome]. 61
16365626 2005
44
Segmental facial anhidrosis and tonic pupils with preserved deep tendon reflexes: a novel autonomic neuropathy. 61
15756124 2005
45
Anti-Hu antibodies, sensory neuropathy, and Holmes-Adie syndrome in a patient with seminoma. 61
15642929 2005
46
Idiopathic unilateral hyperhidrosis with Holmes-Adie syndrome: case report. 61
15235187 2004
47
[Surgical treatment for compensatory hyperhidrosis in Adie syndrome]. 61
14746734 2004
48
Segmental anhidrosis with hyporeflexia associated with congenital spinal deformity: a Ross's syndrome variant or inverse Horner's syndrome? 61
17642554 2004
49
Orthostatic hypotension and Holmes-Adie syndrome. Usefulness of the Valsalva ratio in the evaluation of baroreceptor dysfunction. 61
12214264 2002
50
Selective loss of cholinergic sudomotor fibers causes anhidrosis in Ross syndrome. 61
12210801 2002

Variations for Adie Pupil

Expression for Adie Pupil

Search GEO for disease gene expression data for Adie Pupil.

Pathways for Adie Pupil

GO Terms for Adie Pupil

Cellular components related to Adie Pupil according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 basolateral plasma membrane GO:0016323 8.62 MPZ CASK

Sources for Adie Pupil

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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