MCID: MRC002
MIFTS: 50

Marcus Gunn Phenomenon

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

Aliases & Classifications for Marcus Gunn Phenomenon

MalaCards integrated aliases for Marcus Gunn Phenomenon:

Name: Marcus Gunn Phenomenon 57 76 53 44 73
Jaw-Winking Syndrome 12 59 29 15
Maxillopalpebral Synkinesis 57 53
Marcus-Gunn Syndrome 12 59
Jaw-Winking 57 53
Mandibulo-Palpebral Synkinesis-Ptosis Syndrome 59
Abnormal Innervation Syndrome of Eyelid 12
Familial Marcus Gunn Phenomenon 53
Pterygoid-Levator Synkinesis 12
Marcus-Gunn Phenomenon 59
Marcus Gunn Syndrome 53
Jaw-Blinking 12

Characteristics:

Orphanet epidemiological data:

59
marcus-gunn syndrome
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
marcus gunn phenomenon:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare eye diseases


External Ids:

OMIM 57 154600
Disease Ontology 12 DOID:560
ICD10 33 Q07.8
ICD9CM 35 374.43
MeSH 44 C535908
Orphanet 59 ORPHA91412
ICD10 via Orphanet 34 Q07.8
UMLS via Orphanet 74 C0266521
MedGen 42 C0266521
SNOMED-CT via HPO 69 263681008 268163008 61989004
UMLS 73 C0266521

Summaries for Marcus Gunn Phenomenon

NIH Rare Diseases : 53 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 congenital ptosis and tukel syndrome, and has symptoms including reflex, abnormal, lid retraction or lag and ophthalmoparesis. An important gene associated with Marcus Gunn Phenomenon is CHN1 (Chimerin 1), and among its related pathways/superpathways are Circadian entrainment and G-Beta Gamma Signaling. The drugs Bevacizumab and Triamcinolone have been mentioned in the context of this disorder. Affiliated tissues include eye, 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)

Wikipedia : 76 Marcus Gunn phenomenon, also known as Marcus Gunn jaw-winking or trigemino-oculomotor synkinesis, is an... 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 52)
# Related Disease Score Top Affiliating Genes
1 congenital ptosis 31.0 CHN1 TUBB3
2 tukel syndrome 30.7 CHN1 TUBB3
3 duane retraction syndrome 29.7 CHN1 TUBB3
4 inverse marcus-gunn phenomenon 12.5
5 exotropia 10.6 CHN1 TUBB3
6 hypotropia 10.6 CHN1 TUBB3
7 amblyopia 10.6 CHN1 TUBB3
8 hypertropia 10.5 CHN1 TUBB3
9 deafness, autosomal dominant 28 10.5 CHN1 TUBB3
10 poland syndrome 10.5 CHN1 TUBB3
11 esotropia 10.5 CHN1 TUBB3
12 paralytic squint 10.4 CHN1 TUBB3
13 pustulosis of palm and sole 10.4 CHAT MRAP
14 ptosis 10.4
15 giant congenital nevus 10.4 HRAS NRAS
16 benign struma ovarii 10.3 HRAS NRAS
17 schimmelpenning-feuerstein-mims syndrome 10.3 HRAS NRAS
18 ovarian melanoma 10.3 HRAS NRAS
19 malignant conjunctival melanoma 10.3 HRAS NRAS
20 melanomatosis 10.3 HRAS NRAS
21 malignant struma ovarii 10.3 HRAS NRAS
22 myelodysplastic myeloproliferative cancer 10.3 HRAS NRAS
23 meningeal melanomatosis 10.3 HRAS NRAS
24 nevus, epidermal 10.3 HRAS NRAS
25 ocular motility disease 10.3 CHN1 TUBB3
26 melanocytic nevus syndrome, congenital 10.3 HRAS NRAS
27 vulvar melanoma 10.3 HRAS NRAS
28 acneiform dermatitis 10.3 HRAS NRAS
29 malignant skin fibrous histiocytoma 10.2 HRAS NRAS
30 core binding factor acute myeloid leukemia 10.2 HRAS NRAS
31 liver angiosarcoma 10.2 HRAS NRAS
32 malignant dermis tumor 10.2 HRAS NRAS
33 abducens palsy 10.1
34 albinism 10.1
35 disuse amblyopia 10.1 CHN1 FOS
36 central nervous system melanocytic neoplasm 10.0 HRAS NRAS
37 cranial nerve disease 10.0 CHN1 TUBB3
38 fibrosis of extraocular muscles, congenital, 1 10.0
39 kabuki syndrome 1 10.0
40 neuroblastoma 10.0
41 amnestic disorder 9.9 CHAT FOS
42 bone ewing's sarcoma 9.9 CHAT MYC
43 brain cancer 9.8 HRAS NRAS TUBB3
44 thyroid cancer, nonmedullary, 2 9.6 FOS HRAS NRAS
45 female reproductive organ cancer 9.4 HRAS MYC TUBB3
46 respiratory system cancer 9.4 HRAS MYC TUBB3
47 myeloma, multiple 9.3 HRAS MYC NRAS
48 leukemia, chronic myeloid 9.3 HRAS MYC NRAS
49 malignant histiocytosis 9.2 FOS MYC
50 malignant fibrous histiocytoma of bone 9.1 FOS HRAS MYC

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



Diseases related to Marcus Gunn Phenomenon

Symptoms & Phenotypes for Marcus Gunn Phenomenon

Symptoms via clinical synopsis from OMIM:

57
Neuro:
unilateral congenital ptosis
rapid exaggerated elevation of ptotic eyelid on jaw motion


Clinical features from OMIM:

154600

Human phenotypes related to Marcus Gunn Phenomenon:

32
# Description HPO Frequency HPO Source Accession
1 unilateral ptosis 32 HP:0007687
2 congenital ptosis 32 HP:0007970

UMLS symptoms related to Marcus Gunn Phenomenon:


reflex, abnormal, lid retraction or lag, ophthalmoparesis

MGI Mouse Phenotypes related to Marcus Gunn Phenomenon:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.7 CES1 CHAT CHN1 FOS HRAS MYC
2 normal MP:0002873 9.43 CHAT CHN1 FOS HRAS MYC NRAS
3 skeleton MP:0005390 9.1 CHAT CHN1 FOS HRAS MYC NRAS

Drugs & Therapeutics for Marcus Gunn Phenomenon

Drugs for Marcus Gunn Phenomenon (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 30)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bevacizumab Approved, Investigational Phase 1, Phase 2 216974-75-3
2
Triamcinolone Approved, Vet_approved Phase 1, Phase 2 124-94-7 31307
3
Ketamine Approved, Vet_approved Phase 2 6740-88-1 3821
4
Propofol Approved, Investigational, Vet_approved Phase 2 2078-54-8 4943
5
Thiopental Approved, Vet_approved Phase 2 76-75-5 3000715
6 Angiogenesis Inhibitors Phase 1, Phase 2
7 Angiogenesis Modulating Agents Phase 1, Phase 2
8 Anti-Inflammatory Agents Phase 1, Phase 2
9 glucocorticoids Phase 1, Phase 2
10 Hormone Antagonists Phase 1, Phase 2
11 Hormones Phase 1, Phase 2
12 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
13 Immunosuppressive Agents Phase 1, Phase 2
14 triamcinolone acetonide Phase 1, Phase 2
15 Triamcinolone diacetate Phase 1, Phase 2
16 Triamcinolone hexacetonide Phase 1, Phase 2
17 Analgesics Phase 2
18 Anesthetics Phase 2
19 Anesthetics, Dissociative Phase 2
20 Anesthetics, General Phase 2
21 Anesthetics, Intravenous Phase 2
22 Anticonvulsants Phase 2
23 Central Nervous System Depressants Phase 2
24 Excitatory Amino Acid Antagonists Phase 2
25 Excitatory Amino Acids Phase 2
26 GABA Agents Phase 2
27 GABA Modulators Phase 2
28 Hypnotics and Sedatives Phase 2
29 Neurotransmitter Agents Phase 2
30 Peripheral Nervous System Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Comparison of Intravitreal Bevacizumab and Triamcinolone With Placebo Unknown status NCT01330524 Phase 1, Phase 2 Avastin and Triamcinolone
2 Prevention of Complications of Eye Surgery Completed NCT00478907 Phase 2 KETAMINE, PROPOFOL, THIOPENTAL
3 Novel Portable Diagnostic Device for Automatic Detection of Relative Afferent Pupillary Defect Completed NCT02772666 Not Applicable
4 Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs), and Their Associated Anomalies Recruiting NCT03059420

Search 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:

41
Eye

Publications for Marcus Gunn Phenomenon

Articles related to Marcus Gunn Phenomenon:

(show all 45)
# Title Authors Year
1
Marcus Gunn Phenomenon. ( 28606373 )
2017
2
Marcus Gunn phenomenon with abducens palsy: As pseudo-false localizing signs. ( 21716868 )
2011
3
Pure direct duplication (12)(q24.1-->q24.2) in a child with Marcus Gunn phenomenon and multiple congenital anomalies. ( 16411218 )
2006
4
A case of familial inverse Marcus Gunn phenomenon. ( 12531973 )
2003
5
Inverse Marcus Gunn phenomenon. ( 12194575 )
2002
6
A clinical sign of the Marcus Gunn phenomenon. Case Report. ( 10450583 )
1999
7
The Marcus Gunn phenomenon: discussion and report of three cases. ( 8602433 )
1995
8
Unusual Marcus Gunn phenomenon in adults. ( 1464450 )
1992
9
Clinical neuromythology. I. The Marcus Gunn phenomenon: loose canon of neuro-ophthalmology. ( 3386834 )
1988
10
Histological appearances of the levator palpebrae superioris muscle in the Marcus Gunn phenomenon. ( 3349010 )
1988
11
The Marcus Gunn phenomenon. Discussion and report of a case. ( 3480485 )
1987
12
[The Marcus Gunn phenomenon]. ( 6522914 )
1984
13
The Marcus Gunn phenomenon. A review of 71 cases. ( 6709318 )
1984
14
Problems of ocular miswiring in albinism, Duane's syndrome, and Marcus Gunn phenomenon. ( 6544763 )
1984
15
The Marcus-Gunn phenomenon: fortuitous desensitisation using biofeedback. ( 6147133 )
1984
16
Progeria with Marcus-Gunn phenomenon. ( 6676329 )
1983
17
Marcus Gunn phenomenon. ( 7405917 )
1980
18
The inverse Marcus Gunn phenomenon. An electromyographie contribution. ( 637763 )
1978
19
Marcus Gunn phenomenon associated with synkinetic oculopalpebral movements. ( 974532 )
1976
20
Section of the portio minor of the trigeminal nerve for the treatment of the Marcus Gunn phenomenon. ( 1031875 )
1976
21
Jaw-winking movement (Marcus-Gunn phenomenon). ( 4790418 )
1973
22
The optimum time for surgery in the Marcus Gunn phenomenon. ( 5506850 )
1970
23
Congenital ptosis with Marcus Gunn phenomenon. ( 5506219 )
1970
24
Familial Marcus Gunn phenomenon. ( 5781039 )
1969
25
Marcus gunn phenomenon. ( 5799718 )
1969
26
Marcus Gunn phenomenon. ( 5665949 )
1968
27
Hereditary Marcus Gunn phenomenon. ( 5635506 )
1968
28
Marcus Gunn phenomenon with paradoxical oculo-palpebral movements. ( 6060808 )
1967
29
Marcus Gunn phenomenon. ( 5985387 )
1966
30
Marcus Gunn phenomenon. ( 5930532 )
1966
31
Marcus Gunn phenomenon (a report of five cases). ( 5982334 )
1966
32
BLASCOVICZ OPERATION IN A CASE OF MARCUS GUNN PHENOMENON. ( 14193676 )
1964
33
INVERSE MARCUS GUNN PHENOMENON. ( 14098998 )
1963
34
INVERSE MARCUS GUNN PHENOMENON. ( 18170769 )
1962
35
MARCUS GUNN PHENOMENON ASSOCIATED WITH SYNKINETIC OCULO-PALPEBRAL MOVEMENTS. ( 18170705 )
1961
36
Marcus Gunn phenomenon following ptosis surgery. ( 13885963 )
1961
37
Jaw-winking (Marcus Gunn phenomenon). ( 13377281 )
1957
38
Marcus Gunn phenomenon following squint and ptosis surgery; definition and review. ( 13361640 )
1956
39
A quantitative investigation of the Marcus-Gunn phenomenon. ( 13268602 )
1955
40
Jaw-winking reflex: a Marcus Gunn phenomenon. ( 14774521 )
1950
41
Nuclear aplasia and Marcus Gunn phenomenon. ( 18126444 )
1949
42
Three cases of Marcus Gunn phenomenon in two generations. ( 18132874 )
1949
43
The Marcus Gunn phenomenon; discussion, presentation of four instances and consideration of its surgical correction. ( 20284414 )
1947
44
Marcus Gunn phenomenon. ( 20278948 )
1947
45
Jaw-winking (Marcus Gunn Phenomenon). ( 19991992 )
1939

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

Pathways related to Marcus Gunn Phenomenon according to GeneCards Suite gene sharing:

(show top 50) (show all 65)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.9 CHAT FOS HRAS NRAS
2
Show member pathways
12.89 FOS HRAS NRAS TUBB3
3
Show member pathways
12.78 FOS HRAS NRAS TUBB3
4
Show member pathways
12.73 FOS HRAS MYC NRAS
5 12.69 FOS HRAS MYC NRAS
6
Show member pathways
12.67 FOS HRAS MYC NRAS
7
Show member pathways
12.66 FOS HRAS MYC NRAS
8
Show member pathways
12.63 FOS HRAS MYC NRAS
9 12.62 FOS HRAS MYC NRAS
10
Show member pathways
12.61 FOS HRAS MYC NRAS
11
Show member pathways
12.38 FOS HRAS MYC NRAS
12
Show member pathways
12.36 FOS HRAS MYC NRAS
13
Show member pathways
12.33 FOS HRAS NRAS
14
Show member pathways
12.31 FOS HRAS NRAS
15
Show member pathways
12.31 FOS HRAS NRAS
16
Show member pathways
12.3 FOS HRAS MYC NRAS
17
Show member pathways
12.29 FOS HRAS NRAS
18
Show member pathways
12.23 FOS HRAS MYC NRAS
19
Show member pathways
12.21 FOS HRAS NRAS
20
Show member pathways
12.2 FOS HRAS MYC NRAS
21 12.18 HRAS MYC NRAS
22
Show member pathways
12.1 FOS HRAS NRAS
23
Show member pathways
12.09 FOS HRAS NRAS
24 12.08 FOS HRAS MYC NRAS
25 12.05 HRAS MYC NRAS
26 12.05 HRAS MYC NRAS
27
Show member pathways
12.02 HRAS MYC NRAS
28
Show member pathways
12 FOS HRAS MYC NRAS
29 11.97 HRAS MYC NRAS
30
Show member pathways
11.94 FOS HRAS MYC
31
Show member pathways
11.89 FOS HRAS NRAS
32 11.88 CHN1 HRAS NRAS
33
Show member pathways
11.88 FOS HRAS MYC NRAS
34
Show member pathways
11.86 FOS HRAS NRAS
35 11.84 HRAS MYC NRAS
36
Show member pathways
11.83 FOS HRAS MYC
37 11.83 HRAS MYC NRAS
38 11.81 FOS HRAS NRAS
39 11.8 HRAS MYC NRAS
40 11.64 HRAS NRAS TUBB3
41 11.53 HRAS MYC NRAS
42 11.44 FOS HRAS MYC
43
Show member pathways
11.44 FOS HRAS MYC NRAS
44 11.4 FOS MYC
45 11.39 HRAS MYC NRAS
46 11.38 FOS HRAS
47 11.29 FOS MYC
48 11.25 HRAS NRAS
49 11.25 HRAS MYC
50 11.23 FOS HRAS

GO Terms for Marcus Gunn Phenomenon

Biological processes related to Marcus Gunn Phenomenon according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.43 HRAS MYC NRAS
2 ERBB2 signaling pathway GO:0038128 9.16 HRAS NRAS
3 axon guidance GO:0007411 9.13 HRAS NRAS TUBB3
4 Fc-epsilon receptor signaling pathway GO:0038095 8.8 FOS HRAS NRAS

Sources for Marcus Gunn Phenomenon

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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