MCID: MRC002
MIFTS: 32

Marcus Gunn Phenomenon

Categories: Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Oral diseases, Rare diseases

Aliases & Classifications for Marcus Gunn Phenomenon

MalaCards integrated aliases for Marcus Gunn Phenomenon:

Name: Marcus Gunn Phenomenon 57 73 20 44 70
Jaw-Winking Syndrome 12 58 29 15
Maxillopalpebral Synkinesis 57 20
Marcus-Gunn Syndrome 12 58
Jaw-Winking 57 20
Mandibulo-Palpebral Synkinesis-Ptosis Syndrome 58
Abnormal Innervation Syndrome of Eyelid 12
Familial Marcus Gunn Phenomenon 20
Pterygoid-Levator Synkinesis 12
Marcus-Gunn Phenomenon 58
Marcus Gunn Syndrome 20
Jaw-Blinking 12

Characteristics:

Orphanet epidemiological data:

58
marcus-gunn syndrome
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
marcus gunn phenomenon:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:560
OMIM® 57 154600
ICD9CM 34 374.43
MeSH 44 C535908
SNOMED-CT 67 5127009
ICD10 32 Q07.8
ICD10 via Orphanet 33 Q07.8
UMLS via Orphanet 71 C0266521
Orphanet 58 ORPHA91412
MedGen 41 C0266521
SNOMED-CT via HPO 68 263681008 268163008 61989004
UMLS 70 C0266521

Summaries for Marcus Gunn Phenomenon

GARD : 20 Marcus Gunn phenomenon is a rare condition characterized by movement of the upper eyelid in a rapid rising motion (a "wink") each time the jaw moves. The wink phenomenon may be elicited by opening the mouth, thrusting the jaw to the side, jaw protrusion, chewing, smiling, or sucking. It is usually present at birth and may occur with other eye abnormalities (such as strabismus ) or vision problems. Although it usually affects one eye, it can affect both eyes in rare cases. The exact cause is not known. Marcus Gunn phenomenon is generally sporadic, but familial cases have been reported. Treatment is not always needed but may include surgery in more severe cases.

MalaCards based summary : Marcus Gunn Phenomenon, also known as jaw-winking syndrome, is related to amblyopia and hypotropia, and has symptoms including ophthalmoparesis, reflex, abnormal and lid retraction or lag. An important gene associated with Marcus Gunn Phenomenon is ZFHX4 (Zinc Finger Homeobox 4). Affiliated tissues include eye, heart and lung, and related phenotypes are unilateral ptosis and congenital ptosis

OMIM® : 57 The Marcus Gunn phenomenon consists of unilateral congenital ptosis and rapid exaggerated elevation of the ptotic lid on moving of the lower jaw. Although it usually persists into adult life, the phenomenon is seen in its most marked forms in infancy when the rapid spasmodic movements of the lid are apparent during sucking and thus are noted soon after birth (Doco-Fenzy et al., 2006). (154600) (Updated 05-Apr-2021)

Wikipedia : 73 Marcus Gunn phenomenon is an autosomal dominant condition with incomplete penetrance, in which nursing... more...

Related Diseases for Marcus Gunn Phenomenon

Diseases related to Marcus Gunn Phenomenon via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 62)
# Related Disease Score Top Affiliating Genes
1 amblyopia 30.3 KIF21A FOXL2
2 hypotropia 30.3 PHOX2A KIF21A
3 tukel syndrome 30.1 PHOX2A KIF21A
4 esotropia 30.0 PHOX2A KIF21A
5 hypertropia 29.9 PHOX2A KIF21A
6 congenital ptosis 29.8 ZFHX4 PHOX2A KIF21A FOXL2
7 lagophthalmos 29.8 ZFHX4 PHOX2A KIF21A
8 exotropia 29.8 PHOX2A KIF21A
9 keratitis, hereditary 29.8 PHOX2A KIF21A
10 kearns-sayre syndrome 29.6 PHOX2A KIF21A
11 duane retraction syndrome 29.4 ZFHX4 PHOX2A KIF21A FOXL2
12 ptosis 29.2 ZFHX4 UBE3B RAPSN PHOX2A KIF21A FOXL2
13 inverse marcus-gunn phenomenon 11.5
14 suppression amblyopia 10.3
15 marin-amat syndrome 10.3
16 refractive error 10.2
17 abducens palsy 10.2
18 hutchinson-gilford progeria syndrome 10.2
19 strabismus 10.2
20 retinitis pigmentosa 11 10.2
21 brown syndrome 10.2
22 anisometropia 10.2
23 ventricular septal defect 10.2
24 cleft lip 10.2
25 mechanical strabismus 10.2
26 pathologic nystagmus 10.2
27 albinism 10.2
28 chromosomal triplication 10.2
29 cleft lip/palate 10.2
30 duane retraction syndrome 1 10.2
31 monocular esotropia 10.2
32 isolated duane retraction syndrome 10.2
33 cervical adenitis 10.1
34 malignant hyperthermia 10.1
35 exposure keratitis 10.1
36 blepharophimosis, ptosis, and epicanthus inversus 10.0 ZFHX4 FOXL2
37 coloboma of optic nerve 10.0
38 seizures, benign familial neonatal, 1 10.0
39 fibrosis of extraocular muscles, congenital, 1 10.0
40 kabuki syndrome 1 10.0
41 charge syndrome 10.0
42 astigmatism 10.0
43 fibrosis of extraocular muscles, congenital, with synergistic divergence 10.0
44 cardiac conduction disease with or without dilated cardiomyopathy 10.0
45 alternating exotropia 10.0
46 entropion 10.0
47 bell's palsy 10.0
48 myopathy 10.0
49 neuroblastoma 10.0
50 neurofibromatosis 10.0

Graphical network of the top 20 diseases related to Marcus Gunn Phenomenon:



Diseases related to Marcus Gunn Phenomenon

Symptoms & Phenotypes for Marcus Gunn Phenomenon

Human phenotypes related to Marcus Gunn Phenomenon:

31
# Description HPO Frequency HPO Source Accession
1 unilateral ptosis 31 HP:0007687
2 congenital ptosis 31 HP:0007970

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neuro:
unilateral congenital ptosis
rapid exaggerated elevation of ptotic eyelid on jaw motion

Clinical features from OMIM®:

154600 (Updated 05-Apr-2021)

UMLS symptoms related to Marcus Gunn Phenomenon:


ophthalmoparesis; reflex, abnormal; lid retraction or lag

GenomeRNAi Phenotypes related to Marcus Gunn Phenomenon according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-117 9.23 FOXL2 PHOX2A
2 Increased shRNA abundance (Z-score > 2) GR00366-A-216 9.23 PHOX2A
3 Increased shRNA abundance (Z-score > 2) GR00366-A-24 9.23 PHOX2A
4 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.23 PHOX2A
5 Increased shRNA abundance (Z-score > 2) GR00366-A-53 9.23 PHOX2A
6 Increased shRNA abundance (Z-score > 2) GR00366-A-89 9.23 FOXL2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.23 PHOX2A

Drugs & Therapeutics for Marcus Gunn Phenomenon

Search Clinical Trials , NIH Clinical Center for Marcus Gunn Phenomenon

Cochrane evidence based reviews: marcus gunn phenomenon

Genetic Tests for Marcus Gunn Phenomenon

Genetic tests related to Marcus Gunn Phenomenon:

# Genetic test Affiliating Genes
1 Jaw-Winking Syndrome 29

Anatomical Context for Marcus Gunn Phenomenon

MalaCards organs/tissues related to Marcus Gunn Phenomenon:

40
Eye, Heart, Lung

Publications for Marcus Gunn Phenomenon

Articles related to Marcus Gunn Phenomenon:

(show top 50) (show all 121)
# Title Authors PMID Year
1
Pure direct duplication (12)(q24.1-->q24.2) in a child with Marcus Gunn phenomenon and multiple congenital anomalies. 61 57
16411218 2006
2
Familial Marcus Gunn phenomenon. 57 61
5781039 1969
3
Three cases of Marcus Gunn phenomenon in two generations. 57 61
18132874 1949
4
Jaw - winking phenomenon: Report of a case with review of literature. 20 61
26275203 2015
5
[Clinical and electrophysiological study of 2 familial cases of Marcus Gunn phenomenon]. 20 61
2063068 1991
6
A rare case of congenital fibrosis of extraocular muscle type 1A due to KIF21A mutation with Marcus Gunn jaw-winking phenomenon. 20
26190014 2015
7
Marcus Gunn jaw-winking synkinesis: clinical features and management. 20
20188419 2010
8
Neonatal diagnosis of Marcus Gunn jaw-winking syndrome. 61
33598261 2021
9
Surgical Outcomes of Unilateral Marcus Gunn Jaw Winking Ptosis Correction: A Novel Whitnall's Ligament Approach. 61
33307625 2021
10
Shuddering attacks in children: A retrospective analysis of 19 cases from a single-center in Turkey. 61
33621812 2021
11
Marcus Gunn jaw winking syndrome in a 6-year-old boy: a new observation. 61
32621984 2020
12
Marcus Gunn Jaw-Winking Syndrome: a Case Report. 61
31762566 2019
13
Marcus Gunn (jaw-winking) phenomenon in pediatric otorhinolaryngology practice. 61
30579071 2019
14
Marcus Gunn Jaw-Winking Syndrome Associated with Morning Glory Disc Anomaly. 61
31114123 2019
15
Re: "Marcus Gunn Jaw-Winking Syndrome: A Comprehensive Review and Report of Four Novel Cases". 61
29517601 2018
16
Reply re: "Marcus Gunn Jaw-Winking Syndrome: A Comprehensive Review and Report of Four Novel Cases". 61
29517602 2018
17
Marcus Gunn Jaw-Winking Syndrome: A Comprehensive Review and Report of Four Novel Cases. 61
27608283 2017
18
Marcus Gunn Phenomenon. 61
28606373 2017
19
Factors Associated With Surgical Outcomes in Congenital Ptosis: A 10-Year Study of 319 Cases. 61
28040525 2017
20
Familial Congenital Facial Synkinesis Due to 12q Duplication: A Case Report and Literature Review. 61
27940697 2016
21
Bilateral Marcus Gunn jaw-winking syndrome. 61
25754805 2015
22
Bilateral familial vertical Duane Syndrome with synergistic convergence, aberrant trigeminal innervation, and facial hypoplasia. 61
25378878 2014
23
Thromboembolism and congenital malformations: from Duane syndrome to thalidomide embryopathy. 61
23710497 2013
24
Concurrence of multiple types of eyelid synkinesia in a patient with congenital anomalies. 61
21435806 2012
25
Abnormal oculocardiac reflex in two patients with Marcus Gunn syndrome. 61
21897519 2011
26
[Marin-Amat and inverted Marcus-Gunn syndrome. Two case reports]. 61
21377433 2011
27
[Oculopalpebral and facial synkinesis associated with ptosis: epidemiological, clinical, and therapeutic features]. 61
21277047 2011
28
Unraveling a masticatory - oculomotor neural pathway in rat: Implications for a pathophysiological neural circuit in human? 61
22162784 2011
29
Marcus Gunn phenomenon with abducens palsy: As pseudo-false localizing signs. 61
21716868 2011
30
Marcus Gunn jaw-winking syndrome. 61
21046852 2010
31
Marcus Gunn (jaw-winking) phenomenon: a case report. 61
19938254 2009
32
Treatment of the jaw-winking syndrome. 61
18362569 2008
33
[Upper eyelid surgery for treatment of congenital blepharoptosis]. 61
17650718 2007
34
Early habituation of severe blepharoptosis in marcus gunn jaw-winking syndrome. 61
16491724 2006
35
Tetralogy of fallot with left heart hypoplasia, total anomalous pulmonary venous return, and right lung hypoplasia: role of magnetic resonance imaging. 61
16374700 2005
36
[Marcus Gunn Phenomenon: differential diagnosis of palpebral ptoses in children]. 61
15192770 2004
37
A case of familial inverse Marcus Gunn phenomenon. 61
12531973 2003
38
[New views on aberrant innervation of oculomotor muscles ]. 61
12428407 2002
39
Inverse Marcus Gunn phenomenon. 61
12194575 2002
40
Use of the orbicularis oculi muscle flap for severe Marcus Gunn ptosis. 61
12068228 2002
41
Mersilene mesh as an alternative to autogenous fascia lata in brow suspension. 61
11766021 2001
42
[Duane's retraction syndrome--overview and diagnosis of clinical types]. 61
11433591 2001
43
[Jaw-winking syndrome]. 61
11528704 2001
44
Clinical features associated with the jaw winking syndrome. 61
21149043 2001
45
The jaw-winking syndrome. 61
10916363 2000
46
A clinical sign of the Marcus Gunn phenomenon. Case Report. 61
10450583 1999
47
Marin-Amat syndrome: case report and review of the literature. 61
10334404 1999
48
Marcus Gunn Jaw-Winking Phenomenon: management and results of treatment in 19 patients. 61
10188124 1999
49
The spectrum of ocular features in the Williams-Beuren syndrome. 61
8721568 1996
50
The Marcus Gunn phenomenon: discussion and report of three cases. 61
8602433 1995

Variations for Marcus Gunn Phenomenon

Expression for Marcus Gunn Phenomenon

Search GEO for disease gene expression data for Marcus Gunn Phenomenon.

Pathways for Marcus Gunn Phenomenon

GO Terms for Marcus Gunn Phenomenon

Sources for Marcus Gunn Phenomenon

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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