MCID: MRC002
MIFTS: 47

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 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:



External Ids:

OMIM 57 154600
Disease Ontology 12 DOID:560
ICD10 33 Q07.8
ICD9CM 35 374.43
MeSH 44 C535908
SNOMED-CT 68 36603006 5127009
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 ophthalmoparesis, reflex, abnormal and lid retraction or lag. An important gene associated with Marcus Gunn Phenomenon is CHN1 (Chimerin 1), and among its related pathways/superpathways are Human cytomegalovirus infection and Circadian entrainment. The drugs Triamcinolone and Bevacizumab have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and liver, 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 30.6 TUBB3 CHN1
2 tukel syndrome 30.4 TUBB3 CHN1
3 duane retraction syndrome 30.1 TUBB3 CHN1
4 inverse marcus-gunn phenomenon 12.7
5 ptosis 10.5
6 abducens palsy 10.3
7 albinism 10.3
8 exotropia 10.2 TUBB3 CHN1
9 hypotropia 10.2 TUBB3 CHN1
10 fibrosis of extraocular muscles, congenital, 1 10.2
11 kabuki syndrome 1 10.2
12 charge syndrome 10.2
13 neuroblastoma 10.2
14 isolated duane retraction syndrome 10.2
15 hypertropia 10.2 TUBB3 CHN1
16 deafness, autosomal dominant 28 10.1 TUBB3 CHN1
17 esotropia 10.1 TUBB3 CHN1
18 amblyopia 10.1 TUBB3 CHN1
19 giant congenital nevus 10.1 NRAS HRAS
20 benign struma ovarii 10.1 NRAS HRAS
21 schimmelpenning-feuerstein-mims syndrome 10.1 NRAS HRAS
22 paralytic squint 10.1 TUBB3 CHN1
23 ovarian melanoma 10.1 NRAS HRAS
24 melanomatosis 10.1 NRAS HRAS
25 malignant conjunctival melanoma 10.1 NRAS HRAS
26 malignant struma ovarii 10.1 NRAS HRAS
27 nodular malignant melanoma 10.1 NRAS HRAS
28 fetal adenoma 10.1 NRAS HRAS
29 meningeal melanomatosis 10.1 NRAS HRAS
30 myelodysplastic myeloproliferative cancer 10.1 NRAS HRAS
31 melanocytic nevus syndrome, congenital 10.1 NRAS HRAS
32 acneiform dermatitis 10.1 NRAS HRAS
33 ocular motility disease 10.1 TUBB3 CHN1
34 vulvar melanoma 10.1 NRAS HRAS
35 core binding factor acute myeloid leukemia 10.1 NRAS HRAS
36 malignant skin fibrous histiocytoma 10.1 NRAS HRAS
37 liver angiosarcoma 10.0 NRAS HRAS
38 malignant dermis tumor 10.0 NRAS HRAS
39 disuse amblyopia 10.0 FOS CHN1
40 cranial nerve disease 10.0 TUBB3 CHN1
41 central nervous system melanocytic neoplasm 10.0 NRAS HRAS
42 uterine corpus cancer 10.0 TUBB3 MYC
43 bone ewing's sarcoma 10.0 MYC CHAT
44 malignant fibrous histiocytoma of bone 9.9 MYC FOS
45 thyroid cancer, nonmedullary, 2 9.9 NRAS HRAS FOS
46 respiratory system cancer 9.8 TUBB3 MYC HRAS
47 gastrointestinal system cancer 9.8 TUBB3 MYC HRAS
48 endocrine gland cancer 9.8 TUBB3 MYC HRAS
49 myeloma, multiple 9.8 NRAS MYC HRAS
50 leukemia, chronic myeloid 9.8 NRAS MYC HRAS

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:


ophthalmoparesis, reflex, abnormal, lid retraction or lag

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 31)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Triamcinolone Approved, Vet_approved Phase 1, Phase 2 124-94-7 31307
2
Bevacizumab Approved, Investigational Phase 1, Phase 2 216974-75-3
3
Thiopental Approved, Vet_approved Phase 2 76-75-5 3000715
4
Ketamine Approved, Vet_approved Phase 2 6740-88-1 3821
5
Propofol Approved, Investigational, Vet_approved Phase 2 2078-54-8 4943
6 Immunologic Factors Phase 1, Phase 2
7 Immunosuppressive Agents Phase 1, Phase 2
8 glucocorticoids Phase 1, Phase 2
9 Hormone Antagonists Phase 1, Phase 2
10 Anti-Inflammatory Agents Phase 1, Phase 2
11 Angiogenesis Modulating Agents Phase 1, Phase 2
12 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
13 Hormones Phase 1, Phase 2
14 triamcinolone acetonide Phase 1, Phase 2
15 Triamcinolone hexacetonide Phase 1, Phase 2
16 Angiogenesis Inhibitors Phase 1, Phase 2
17 Triamcinolone diacetate Phase 1, Phase 2
18 Analgesics Phase 2
19 Neurotransmitter Agents Phase 2
20 Excitatory Amino Acid Antagonists Phase 2
21 Anesthetics, Dissociative Phase 2
22 Anesthetics, Intravenous Phase 2
23 Anesthetics, General Phase 2
24 GABA Agents Phase 2
25 Central Nervous System Depressants Phase 2
26 Anticonvulsants Phase 2
27 GABA Modulators Phase 2
28 Peripheral Nervous System Agents Phase 2
29 Hypnotics and Sedatives Phase 2
30 Excitatory Amino Acids Phase 2
31 Anesthetics 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, Brain, Liver, Bone, Colon, Thyroid, Myeloid

Publications for Marcus Gunn Phenomenon

Articles related to Marcus Gunn Phenomenon:

(show all 48)
# Title Authors Year
1
Re: "Marcus Gunn Jaw-Winking Syndrome: A Comprehensive Review and Report of Four Novel Cases". ( 29517601 )
2018
2
Reply re: "Marcus Gunn Jaw-Winking Syndrome: A Comprehensive Review and Report of Four Novel Cases". ( 29517602 )
2018
3
Marcus Gunn Phenomenon. ( 28606373 )
2017
4
Marcus Gunn Jaw-Winking Syndrome: A Comprehensive Review and Report of Four Novel Cases. ( 27608283 )
2017
5
Marcus Gunn phenomenon with abducens palsy: As pseudo-false localizing signs. ( 21716868 )
2011
6
Pure direct duplication (12)(q24.1-->q24.2) in a child with Marcus Gunn phenomenon and multiple congenital anomalies. ( 16411218 )
2006
7
A case of familial inverse Marcus Gunn phenomenon. ( 12531973 )
2003
8
Inverse Marcus Gunn phenomenon. ( 12194575 )
2002
9
A clinical sign of the Marcus Gunn phenomenon. Case Report. ( 10450583 )
1999
10
The Marcus Gunn phenomenon: discussion and report of three cases. ( 8602433 )
1995
11
Unusual Marcus Gunn phenomenon in adults. ( 1464450 )
1992
12
Clinical neuromythology. I. The Marcus Gunn phenomenon: loose canon of neuro-ophthalmology. ( 3386834 )
1988
13
Histological appearances of the levator palpebrae superioris muscle in the Marcus Gunn phenomenon. ( 3349010 )
1988
14
The Marcus Gunn phenomenon. Discussion and report of a case. ( 3480485 )
1987
15
[The Marcus Gunn phenomenon]. ( 6522914 )
1984
16
The Marcus Gunn phenomenon. A review of 71 cases. ( 6709318 )
1984
17
Problems of ocular miswiring in albinism, Duane's syndrome, and Marcus Gunn phenomenon. ( 6544763 )
1984
18
The Marcus-Gunn phenomenon: fortuitous desensitisation using biofeedback. ( 6147133 )
1984
19
Progeria with Marcus-Gunn phenomenon. ( 6676329 )
1983
20
Marcus Gunn phenomenon. ( 7405917 )
1980
21
The inverse Marcus Gunn phenomenon. An electromyographie contribution. ( 637763 )
1978
22
Marcus Gunn phenomenon associated with synkinetic oculopalpebral movements. ( 974532 )
1976
23
Section of the portio minor of the trigeminal nerve for the treatment of the Marcus Gunn phenomenon. ( 1031875 )
1976
24
Jaw-winking movement (Marcus-Gunn phenomenon). ( 4790418 )
1973
25
The optimum time for surgery in the Marcus Gunn phenomenon. ( 5506850 )
1970
26
Congenital ptosis with Marcus Gunn phenomenon. ( 5506219 )
1970
27
Familial Marcus Gunn phenomenon. ( 5781039 )
1969
28
Marcus gunn phenomenon. ( 5799718 )
1969
29
Marcus Gunn phenomenon. ( 5665949 )
1968
30
Hereditary Marcus Gunn phenomenon. ( 5635506 )
1968
31
Marcus Gunn phenomenon with paradoxical oculo-palpebral movements. ( 6060808 )
1967
32
Marcus Gunn phenomenon. ( 5985387 )
1966
33
Marcus Gunn phenomenon. ( 5930532 )
1966
34
Marcus Gunn phenomenon (a report of five cases). ( 5982334 )
1966
35
BLASCOVICZ OPERATION IN A CASE OF MARCUS GUNN PHENOMENON. ( 14193676 )
1964
36
INVERSE MARCUS GUNN PHENOMENON. ( 14098998 )
1963
37
INVERSE MARCUS GUNN PHENOMENON. ( 18170769 )
1962
38
MARCUS GUNN PHENOMENON ASSOCIATED WITH SYNKINETIC OCULO-PALPEBRAL MOVEMENTS. ( 18170705 )
1961
39
Marcus Gunn phenomenon following ptosis surgery. ( 13885963 )
1961
40
Jaw-winking (Marcus Gunn phenomenon). ( 13377281 )
1957
41
Marcus Gunn phenomenon following squint and ptosis surgery; definition and review. ( 13361640 )
1956
42
A quantitative investigation of the Marcus-Gunn phenomenon. ( 13268602 )
1955
43
Jaw-winking reflex: a Marcus Gunn phenomenon. ( 14774521 )
1950
44
Nuclear aplasia and Marcus Gunn phenomenon. ( 18126444 )
1949
45
Three cases of Marcus Gunn phenomenon in two generations. ( 18132874 )
1949
46
The Marcus Gunn phenomenon; discussion, presentation of four instances and consideration of its surgical correction. ( 20284414 )
1947
47
Marcus Gunn phenomenon. ( 20278948 )
1947
48
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 72)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.92 FOS HRAS MYC NRAS
2
Show member pathways
12.9 CHAT FOS HRAS NRAS
3
Show member pathways
12.9 FOS HRAS NRAS TUBB3
4
Show member pathways
12.78 FOS HRAS NRAS TUBB3
5
Show member pathways
12.73 FOS HRAS MYC NRAS
6 12.69 FOS HRAS MYC NRAS
7
Show member pathways
12.66 FOS HRAS MYC NRAS
8 12.61 FOS HRAS MYC NRAS
9
Show member pathways
12.61 FOS HRAS MYC NRAS
10
Show member pathways
12.4 FOS HRAS NRAS
11 12.4 HRAS MYC NRAS
12
Show member pathways
12.38 FOS HRAS MYC NRAS
13
Show member pathways
12.32 FOS HRAS NRAS
14
Show member pathways
12.31 FOS HRAS NRAS
15
Show member pathways
12.31 HRAS MRAP NRAS
16
Show member pathways
12.31 FOS HRAS MYC NRAS
17
Show member pathways
12.29 FOS HRAS NRAS
18
Show member pathways
12.28 HRAS MYC NRAS
19
Show member pathways
12.28 FOS HRAS MYC
20
Show member pathways
12.23 FOS HRAS MYC NRAS
21
Show member pathways
12.22 FOS HRAS NRAS
22
Show member pathways
12.21 FOS HRAS NRAS
23
Show member pathways
12.2 FOS HRAS MYC NRAS
24 12.18 HRAS MYC NRAS
25
Show member pathways
12.15 FOS HRAS NRAS
26
Show member pathways
12.1 HRAS MYC NRAS
27
Show member pathways
12.09 FOS HRAS NRAS
28 12.08 FOS HRAS MYC NRAS
29
Show member pathways
12.07 FOS HRAS NRAS
30 12.05 HRAS MYC NRAS
31 12.02 HRAS MYC NRAS
32
Show member pathways
12.02 HRAS MYC NRAS
33
Show member pathways
12 FOS HRAS MYC NRAS
34 11.97 HRAS MYC NRAS
35
Show member pathways
11.94 FOS HRAS MYC
36
Show member pathways
11.92 FOS HRAS NRAS
37
Show member pathways
11.88 FOS HRAS NRAS
38 11.88 CHN1 HRAS NRAS
39
Show member pathways
11.88 FOS HRAS MYC NRAS
40 11.84 HRAS MYC NRAS
41
Show member pathways
11.83 FOS HRAS MYC
42 11.83 HRAS MYC NRAS
43 11.81 FOS HRAS NRAS
44 11.8 HRAS MYC NRAS
45 11.66 HRAS NRAS TUBB3
46 11.53 HRAS MYC NRAS
47
Show member pathways
11.47 FOS HRAS MYC
48 11.44 FOS HRAS MYC
49
Show member pathways
11.44 FOS HRAS MYC NRAS
50 11.4 FOS MYC

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 8.8 HRAS MYC 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
Content
Loading form....