ADIEP
MCID: ADP007
MIFTS: 41

Adie Pupil (ADIEP)

Categories: Rare diseases, Eye diseases, Muscle 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
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
Adie's Syndrome 12
Adie's Pupil 53
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 123051004 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 charcot-marie-tooth disease and deafness and dystonia 1, torsion, autosomal dominant, and has symptoms including tonic pupil An important gene associated with Adie Pupil is MPZ (Myelin Protein Zero). Affiliated tissues include eye, spinal cord and brain, and related phenotypes are hyporeflexia and tonic 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.

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. 

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.

Wikipedia : 76 Adie syndrome is a neurological disorder characterized by a tonically dilated pupil that reacts slowly... 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 1731)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease and deafness 29.8 ARHGEF10 MPZ
2 dystonia 1, torsion, autosomal dominant 29.6 KANTR TOR1A
3 celiac disease 1 29.5 TNFRSF25 TOR1A
4 migraine with or without aura 1 29.2 KANTR VIP
5 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 11.5
6 hyperinsulinemic hypoglycemia, familial, 6 11.3
7 aortic aneurysm 11.2
8 hepatic adenomas, familial 11.2
9 charcot-marie-tooth disease, axonal, type 2j 11.1
10 cataract 42 10.9
11 renal tubular acidosis, distal, with hemolytic anemia 10.9
12 hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency 10.9
13 hemiparkinsonism-hemiatrophy syndrome 10.9
14 hemidystonia-hemiatrophy syndrome 10.9
15 hinman syndrome 10.9
16 influenza 10.8
17 avian influenza 10.8
18 hepatitis c 10.8
19 crimean-congo hemorrhagic fever 10.7
20 swine influenza 10.7
21 hemorrhagic fever with renal syndrome 10.7
22 newcastle disease 10.7
23 hepatitis e 10.7
24 poliomyelitis 10.7
25 hepatitis b 10.7
26 chickenpox 10.7
27 japanese encephalitis 10.7
28 hepatitis a 10.7
29 yellow fever 10.7
30 dengue disease 10.7
31 infant botulism 10.7
32 scrub typhus 10.7
33 genital herpes 10.6
34 melanoma 10.6
35 mumps 10.6
36 hand, foot and mouth disease 10.6
37 listeriosis 10.6
38 rift valley fever 10.6
39 spondyloarthropathy 1 10.6
40 rubella 10.6
41 q fever 10.6
42 vaccinia 10.6
43 adenocarcinoma 10.6
44 brucellosis 10.6
45 bronchiolitis 10.6
46 venezuelan equine encephalitis 10.6
47 asthma 10.6
48 appendicitis 10.6
49 measles 10.6
50 breast cancer 10.6

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
Eyes:
sluggish pupillary response
mecholyl-sensitive pupil

Misc:
stationary, harmless disorder

Neuro:
hyporeflexia


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, Spinal Cord, Brain, Dorsal Root Ganglion, Testes

Publications for Adie Pupil

Articles related to Adie Pupil:

(show top 50) (show all 56)
# 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
Pupils in Acute Inflammatory Demyelinating Polyradiculoneuropathy Different From Adies Pupils. ( 26153043 )
2015
4
Anisocoria after anesthesia induction caused by Adie syndrome. ( 25138821 )
2014
5
Complete Vogt-Koyanagi-Harada Disease and Holmes-Adie Syndrome: Case Report. ( 24215593 )
2013
6
Teaching video neuroimages: acute Adie syndrome. ( 22965679 )
2012
7
Onion grating as an alternative to pilocarpine drops in a patient with Adie pupil. ( 22581605 )
2012
8
Holmes-Adie syndrome associated with high altitude pulmonary edema and low chemo-responsiveness to hypoxia. ( 20845057 )
2011
9
Progression of cardiovascular autonomic dysfunction in Holmes-Adie syndrome. ( 20562402 )
2011
10
Bilateral Holmes-Adie syndrome as an early manifestation of the HIV neuropathy. ( 20567990 )
2010
11
A new clinical sign in Holmes-Adie syndrome. ( 19219573 )
2009
12
Holmes-Adie pupil in a patient with hemicrania: a spectrum of a multifocal autonomic dysfunction? ( 18641888 )
2008
13
Adie syndrome associated with general anesthesia. ( 18245077 )
2008
14
Chronic cough and Holmes-Adie syndrome. ( 17258674 )
2007
15
Bilateral tonic pupils: Holmes Adie syndrome or generalised neuropathy? ( 17584996 )
2007
16
Holmes-Adie syndrome, autoimmune hepatitis and celiac disease: a case report. ( 16552828 )
2006
17
Anti-Hu antibodies, sensory neuropathy, and Holmes-Adie syndrome in a patient with seminoma. ( 15642929 )
2005
18
Idiopathic unilateral hyperhidrosis with Holmes-Adie syndrome: case report. ( 15235187 )
2004
19
Orthostatic hypotension and Holmes-Adie syndrome. Usefulness of the Valsalva ratio in the evaluation of baroreceptor dysfunction. ( 12214264 )
2002
20
Holmes-Adie syndrome and Lyme disease. ( 11254002 )
2001
21
Asymmetric pigment dispersion in a patient with the unilateral Adie pupil. ( 11530059 )
2001
22
Unilateral Adie pupil as sole ophthalmic sign of anti-Hu paraneoplastic syndrome. ( 11130750 )
2000
23
Holmes-Adie syndrome. ( 11095273 )
2000
24
Adie syndrome: evidence for refractive error and accomodative asymmetry as the cause of amblyopia. ( 10482113 )
1999
25
Neurophysiological evaluation of areflexia in Holmes-Adie syndrome. ( 10431290 )
1999
26
Bilateral glaucomatocyclitic crisis in a patient with Holmes Adie syndrome. ( 10703577 )
1998
27
Chronic cough in the Holmes-Adie syndrome: association in five cases with autonomic dysfunction. ( 9771793 )
1998
28
Adie syndrome as the initial sign of primary SjAPgren syndrome. ( 9152077 )
1997
29
Adie syndrome: a case report. ( 9407486 )
1997
30
On the cause of tendon areflexia in the Holmes-Adie syndrome. ( 8187677 )
1994
31
Cardiovascular and sweating dysfunction in patients with Holmes-Adie syndrome. ( 8410009 )
1993
32
Adie syndrome in a child: a case report. ( 1588475 )
1992
33
Autonomic function in Holmes Adie syndrome. ( 2226992 )
1990
34
Carotid gustatory syndrome in a patient with Holmes-Adie syndrome. ( 2341855 )
1990
35
Loss of facial sweating and flushing in Holmes-Adie syndrome. ( 2330117 )
1990
36
A hypothetical immunemediated unifying mechanism for the Holmes-Adie syndrome. ( 3202719 )
1988
37
On the cause of hyporeflexia in the Holmes-Adie syndrome. ( 3340290 )
1988
38
The Holmes-Adie syndrome--a report of three cases and observations on its natural history. ( 7295501 )
1981
39
Management of Adie syndrome. ( 7223857 )
1981
40
Holmes-Adie syndrome. ( 7217964 )
1980
41
Orthostatic hypotension in the Holmes-Adie syndrome. ( 6966749 )
1980
42
Low concentration eserine therapy for the tonic pupil (Adie) syndrome. ( 7243197 )
1980
43
Tonic vibration reflex in Holmes-Adie syndrome: an electrophysiological study. ( 512669 )
1979
44
Transaqueous diffusion of acetylcholine to denervated iris sphincter muscle: a mechanism for the tonic pupil syndrome (Adie syndrome). ( 697321 )
1978
45
Flaccid paraplegia: a feature of spinal cord lesions in Holmes-Adie syndrome and tabes dorsalis. ( 1141918 )
1975
46
Orthostatic hypotension and the Holmes-Adie syndrome. A study of two patients with afferent baroreceptor block. ( 5122384 )
1971
47
Holmes-Adie syndrome. ( 5762637 )
1969
48
Holmes-Adie syndrome. ( 5781499 )
1969
49
Clinical, physiological and pathological observations in a case of progressive autonomic nervous system degeneration associated with Holmes-Adie syndrome and peripheral neuropathy. ( 4299230 )
1968
50
The tendon reflexes in the Holmes-Adie syndrome. ( 6070023 )
1967

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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