ADIEP
MCID: ADP007
MIFTS: 43

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 57 75
Adie Syndrome 57 12 76 53 59 75 29 44 15 73
Holmes-Adie Syndrome 12 53 54 59 75
Adie's Syndrome 12 54
Adie's Pupil 53 54
Tonic Pupil 75 44
Tonic, Sluggishly Reacting Pupil and Hypoactive or Absent Tendon Reflexes 53
Tonic Pupil-Tendon Areflexia Syndrome 59
Adie's Pupil or Syndrome 12
Poorly Reacting Pupils 57
Adie's Pupil Syndrome 12
Adiep 75
Has 53

Characteristics:

Orphanet epidemiological data:

59
holmes-adie syndrome
Inheritance: Not applicable; Prevalence: 1-9/100000 (United States); Age of onset: Adult; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
adie pupil:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare eye diseases


External Ids:

OMIM 57 103100
Disease Ontology 12 DOID:11549
NCIt 50 C34357
SNOMED-CT 68 24225004
Orphanet 59 ORPHA454718
UMLS via Orphanet 74 C0001519
ICD10 via Orphanet 34 H57.0
SNOMED-CT via HPO 69 263681008 405946002
UMLS 73 C0001519

Summaries for Adie Pupil

NINDS : 54 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 migraine with or without aura 1 and anismus, and has symptoms including tonic pupil An important gene associated with Adie Pupil is MPZ (Myelin Protein Zero). Affiliated tissues include eye, brain and spinal cord, 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 : 53 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. 

UniProtKB/Swiss-Prot : 75 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 : 76 Adie syndrome also known as the Holmes-Adie syndrome is a neurological disorder characterized by a... more...

Description from OMIM: 103100

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 5229)
# Related Disease Score Top Affiliating Genes
1 migraine with or without aura 1 30.6 VIP KANTR
2 anismus 30.5 VIP KANTR
3 facial hemiatrophy 30.2 TRIM21 KANTR
4 dystonia 1, torsion, autosomal dominant 30.2 TOR1A KANTR
5 charcot-marie-tooth disease and deafness 30.0 MPZ ARHGEF10
6 immunoglobulin alpha deficiency 29.8 TOR1A TNFRSF25
7 peripheral nervous system disease 29.6 MPZ KANTR ARHGEF10
8 celiac disease 1 29.4 TOR1A TNFRSF25
9 hyperinsulinemic hypoglycemia, familial, 6 11.7
10 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 11.7
11 pallister-hall syndrome 11.3
12 aortic aneurysm 11.3
13 charcot-marie-tooth disease, axonal, type 2j 11.3
14 cataract 42 11.0
15 hepatic adenomas, familial 11.0
16 renal tubular acidosis, distal, with hemolytic anemia 11.0
17 hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency 11.0
18 hemiparkinsonism-hemiatrophy syndrome 11.0
19 hemidystonia-hemiatrophy syndrome 11.0
20 hinman syndrome 11.0
21 influenza 11.0
22 ebola hemorrhagic fever 10.9
23 herpes zoster 10.9
24 avian influenza 10.9
25 hepatitis c 10.9
26 crimean-congo hemorrhagic fever 10.9
27 human immunodeficiency virus infectious disease 10.9
28 swine influenza 10.9
29 hemorrhagic fever with renal syndrome 10.8
30 hepatitis e 10.8
31 hepatitis b 10.8
32 newcastle disease 10.8
33 poliomyelitis 10.8
34 rabies 10.8
35 japanese encephalitis 10.8
36 chickenpox 10.8
37 hepatitis a 10.8
38 typhoid fever 10.8
39 yellow fever 10.8
40 dengue disease 10.8
41 infant botulism 10.8
42 scrub typhus 10.8
43 spondyloarthropathy 1 10.8
44 hand, foot and mouth disease 10.8
45 listeriosis 10.8
46 rift valley fever 10.8
47 rheumatic fever 10.8
48 anthrax disease 10.8
49 genital herpes 10.8
50 melanoma 10.8

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



Diseases related to Adie Pupil

Symptoms & Phenotypes for Adie Pupil

Symptoms via clinical synopsis from OMIM:

57
Neuro:
hyporeflexia

Misc:
stationary, harmless disorder

Eyes:
sluggish pupillary response
mecholyl-sensitive pupil


Clinical features from OMIM:

103100

Human phenotypes related to Adie Pupil:

32
# Description HPO Frequency HPO Source Accession
1 hyporeflexia 32 HP:0001265
2 tonic pupil 32 HP:0012074

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:

41
Eye, Brain, Spinal Cord, Dorsal Root Ganglion, Kidney, Bone, Heart

Publications for Adie Pupil

Articles related to Adie Pupil:

(show top 50) (show all 58)
# Title Authors Year
1
Adie pupil. Pilocarpine test. ( 29196034 )
2017
2
Adie Pupil as the Initial Presentation of Localized En Coup de Sabre Scleroderma. ( 28668815 )
2017
3
Areflexia in Holmes-Adie syndrome: A sign in search of its pathophysiology. ( 28939242 )
2017
4
A Rare Case in the Emergency Department: Holmes-Adie Syndrome. ( 27437522 )
2015
5
Anisocoria after anesthesia induction caused by Adie syndrome. ( 25138821 )
2014
6
Complete Vogt-Koyanagi-Harada Disease and Holmes-Adie Syndrome: Case Report. ( 24215593 )
2013
7
Teaching video neuroimages: acute Adie syndrome. ( 22965679 )
2012
8
Onion grating as an alternative to pilocarpine drops in a patient with Adie pupil. ( 22581605 )
2012
9
Holmes-Adie syndrome associated with high altitude pulmonary edema and low chemo-responsiveness to hypoxia. ( 20845057 )
2011
10
Progression of cardiovascular autonomic dysfunction in Holmes-Adie syndrome. ( 20562402 )
2011
11
Bilateral Holmes-Adie syndrome as an early manifestation of the HIV neuropathy. ( 20567990 )
2010
12
A new clinical sign in Holmes-Adie syndrome. ( 19219573 )
2009
13
Holmes-Adie pupil in a patient with hemicrania: a spectrum of a multifocal autonomic dysfunction? ( 18641888 )
2008
14
Adie syndrome associated with general anesthesia. ( 18245077 )
2008
15
Chronic cough and Holmes-Adie syndrome. ( 17258674 )
2007
16
Bilateral tonic pupils: Holmes Adie syndrome or generalised neuropathy? ( 17584996 )
2007
17
Holmes-Adie syndrome, autoimmune hepatitis and celiac disease: a case report. ( 16552828 )
2006
18
Anti-Hu antibodies, sensory neuropathy, and Holmes-Adie syndrome in a patient with seminoma. ( 15642929 )
2005
19
Idiopathic unilateral hyperhidrosis with Holmes-Adie syndrome: case report. ( 15235187 )
2004
20
Orthostatic hypotension and Holmes-Adie syndrome. Usefulness of the Valsalva ratio in the evaluation of baroreceptor dysfunction. ( 12214264 )
2002
21
Holmes-Adie syndrome and Lyme disease. ( 11254002 )
2001
22
Asymmetric pigment dispersion in a patient with the unilateral Adie pupil. ( 11530059 )
2001
23
Holmes-Adie syndrome. ( 11095273 )
2000
24
Unilateral Adie pupil as sole ophthalmic sign of anti-Hu paraneoplastic syndrome. ( 11130750 )
2000
25
Adie syndrome: evidence for refractive error and accomodative asymmetry as the cause of amblyopia. ( 10482113 )
1999
26
Neurophysiological evaluation of areflexia in Holmes-Adie syndrome. ( 10431290 )
1999
27
Bilateral glaucomatocyclitic crisis in a patient with Holmes Adie syndrome. ( 10703577 )
1998
28
Chronic cough in the Holmes-Adie syndrome: association in five cases with autonomic dysfunction. ( 9771793 )
1998
29
Adie syndrome as the initial sign of primary SjAPgren syndrome. ( 9152077 )
1997
30
Adie syndrome: a case report. ( 9407486 )
1997
31
On the cause of tendon areflexia in the Holmes-Adie syndrome. ( 8187677 )
1994
32
Cardiovascular and sweating dysfunction in patients with Holmes-Adie syndrome. ( 8410009 )
1993
33
Adie syndrome in a child: a case report. ( 1588475 )
1992
34
Autonomic function in Holmes Adie syndrome. ( 2226992 )
1990
35
Carotid gustatory syndrome in a patient with Holmes-Adie syndrome. ( 2341855 )
1990
36
Loss of facial sweating and flushing in Holmes-Adie syndrome. ( 2330117 )
1990
37
A hypothetical immunemediated unifying mechanism for the Holmes-Adie syndrome. ( 3202719 )
1988
38
On the cause of hyporeflexia in the Holmes-Adie syndrome. ( 3340290 )
1988
39
Management of Adie syndrome. ( 7223857 )
1981
40
The Holmes-Adie syndrome--a report of three cases and observations on its natural history. ( 7295501 )
1981
41
Holmes-Adie syndrome. ( 7217964 )
1980
42
Orthostatic hypotension in the Holmes-Adie syndrome. ( 6966749 )
1980
43
Low concentration eserine therapy for the tonic pupil (Adie) syndrome. ( 7243197 )
1980
44
Tonic vibration reflex in Holmes-Adie syndrome: an electrophysiological study. ( 512669 )
1979
45
Transaqueous diffusion of acetylcholine to denervated iris sphincter muscle: a mechanism for the tonic pupil syndrome (Adie syndrome). ( 697321 )
1978
46
Flaccid paraplegia: a feature of spinal cord lesions in Holmes-Adie syndrome and tabes dorsalis. ( 1141918 )
1975
47
Orthostatic hypotension and the Holmes-Adie syndrome. A study of two patients with afferent baroreceptor block. ( 5122384 )
1971
48
Holmes-Adie syndrome. ( 5762637 )
1969
49
Holmes-Adie syndrome. ( 5781499 )
1969
50
Clinical, physiological and pathological observations in a case of progressive autonomic nervous system degeneration associated with Holmes-Adie syndrome and peripheral neuropathy. ( 4299230 )
1968

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

Molecular functions related to Adie Pupil according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 kinesin binding GO:0019894 8.62 ARHGEF10 TOR1A

Sources for Adie Pupil

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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