MCID: PLS001
MIFTS: 32

Pulsating Exophthalmos

Categories: Bone diseases

Aliases & Classifications for Pulsating Exophthalmos

MalaCards integrated aliases for Pulsating Exophthalmos:

Name: Pulsating Exophthalmos 12 15 71

Classifications:



External Ids:

Disease Ontology 12 DOID:12364
ICD9CM 34 376.35
SNOMED-CT 67 2284002
ICD10 32 H05.26
UMLS 71 C0155271

Summaries for Pulsating Exophthalmos

MalaCards based summary : Pulsating Exophthalmos is related to aneurysm and intracranial aneurysm. An important gene associated with Pulsating Exophthalmos is NF1 (Neurofibromin 1), and among its related pathways/superpathways are ERK Signaling and Phospholipase-C Pathway. Affiliated tissues include eye, brain and thyroid, and related phenotypes are Decreased viability and Decreased viability

Related Diseases for Pulsating Exophthalmos

Diseases related to Pulsating Exophthalmos via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 62)
# Related Disease Score Top Affiliating Genes
1 aneurysm 30.0 TGFBR2 TGFBR1 NF1 COL3A1
2 intracranial aneurysm 29.8 TGFBR2 TGFBR1 COL3A1
3 exophthalmos 11.1
4 neurofibromatosis 10.5
5 intraocular pressure quantitative trait locus 10.3
6 meningocele 10.2
7 arteriovenous malformation 10.2
8 acantholytic acanthoma 10.1 TGFBR1 NF1
9 subclavian artery aneurysm 10.1 TGFBR2 NF1
10 perianal hematoma 10.1 TAC1 NF1
11 intracranial hypotension 10.1 TGFBR2 PTGDS
12 ehlers-danlos syndrome, vascular type 10.1 TGFBR1 COL3A1
13 transient hypogammaglobulinemia of infancy 10.0 TGFBR2 TGFBR1
14 transient hypogammaglobulinemia 10.0 TGFBR2 TGFBR1
15 ehlers-danlos syndrome, classic type, 1 10.0 TGFBR1 COL3A1
16 loeys-dietz syndrome 5 10.0 TGFBR2 TGFBR1
17 multiple self-healing squamous epithelioma 10.0 TGFBR2 TGFBR1
18 mitochondrial dna depletion syndrome 12b 10.0 TGFBR2 TGFBR1
19 loeys-dietz syndrome 3 10.0 TGFBR2 TGFBR1
20 cerebral arterial disease 10.0 NF1 COL3A1
21 3-methylglutaconic aciduria, type iii 10.0
22 aphasia 10.0
23 ptosis 10.0
24 thrombosis 10.0
25 malignant hypertension 10.0
26 vascular disease 10.0
27 hemangioma 10.0
28 empty sella syndrome 10.0
29 cavernous hemangioma 10.0
30 cataract 10.0
31 neurofibroma 10.0
32 head injury 10.0
33 aortic valve insufficiency 10.0 TGFBR2 TGFBR1
34 loeys-dietz syndrome 4 10.0 TGFBR2 TGFBR1
35 camurati-engelmann disease 10.0 TGFBR2 TGFBR1
36 loeys-dietz syndrome 2 10.0 TGFBR2 TGFBR1
37 loeys-dietz syndrome 1 10.0 TGFBR2 TGFBR1
38 myelodysplastic/myeloproliferative neoplasm 9.9 PDGFRB NF1
39 familial colorectal cancer 9.9 TGFBR2 TGFBR1
40 paraganglioma and gastric stromal sarcoma 9.9 PDGFRB NF1
41 tricuspid valve prolapse 9.8 TGFBR2 TGFBR1 COL3A1
42 heritable thoracic aortic disease 9.8 TGFBR2 TGFBR1 COL3A1
43 aortic disease 9.8 TGFBR2 TGFBR1 COL3A1
44 arterial tortuosity syndrome 9.8 TGFBR2 TGFBR1 COL3A1
45 collagen disease 9.8 TGFBR2 TGFBR1 COL3A1
46 aortic aneurysm, familial thoracic 1 9.8 TGFBR2 TGFBR1 COL3A1
47 myofascial pain syndrome 9.8 TAC1 PDGFRB
48 aortic aneurysm 9.8 TGFBR2 TGFBR1 COL3A1
49 familial thoracic aortic aneurysm and aortic dissection 9.8 TGFBR2 TGFBR1 COL3A1
50 aortic dissection 9.8 TGFBR2 TGFBR1 COL3A1

Graphical network of the top 20 diseases related to Pulsating Exophthalmos:



Diseases related to Pulsating Exophthalmos

Symptoms & Phenotypes for Pulsating Exophthalmos

GenomeRNAi Phenotypes related to Pulsating Exophthalmos according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00107-A-1 9.97 TGFBR2
2 Decreased viability GR00221-A-1 9.97 COL3A1 NF1 PDGFRB TGFBR1 TGFBR2
3 Decreased viability GR00221-A-2 9.97 COL3A1 NF1
4 Decreased viability GR00221-A-3 9.97 PDGFRB TGFBR2
5 Decreased viability GR00221-A-4 9.97 COL3A1 NF1 PDGFRB TGFBR1 TGFBR2
6 Decreased viability GR00249-S 9.97 NF1 TGFBR1 TGFBR2
7 Decreased viability GR00342-S-1 9.97 PDGFRB
8 Decreased viability GR00386-A-1 9.97 NF1
9 Decreased viability GR00402-S-2 9.97 TGFBR1 TGFBR2

MGI Mouse Phenotypes related to Pulsating Exophthalmos:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.02 COL3A1 KITLG NF1 PDGFRB TAC1 TGFBR1
2 hematopoietic system MP:0005397 9.95 COL3A1 KITLG NF1 PDGFRB PTGDS TGFBR1
3 digestive/alimentary MP:0005381 9.93 COL3A1 KITLG NF1 PDGFRB TGFBR1 TGFBR2
4 integument MP:0010771 9.92 COL3A1 KITLG NF1 PDGFRB PTGDS TAC1
5 endocrine/exocrine gland MP:0005379 9.91 KITLG NF1 PDGFRB PTGDS TGFBR1 TGFBR2
6 immune system MP:0005387 9.91 COL3A1 KITLG NF1 PDGFRB PTGDS TGFBR1
7 muscle MP:0005369 9.65 COL3A1 NF1 PDGFRB TGFBR1 TGFBR2
8 neoplasm MP:0002006 9.55 KITLG NF1 PTGDS TGFBR1 TGFBR2
9 normal MP:0002873 9.35 NF1 PDGFRB TAC1 TGFBR1 TGFBR2
10 skeleton MP:0005390 9.1 KITLG NF1 PDGFRB PTGDS TGFBR1 TGFBR2

Drugs & Therapeutics for Pulsating Exophthalmos

Search Clinical Trials , NIH Clinical Center for Pulsating Exophthalmos

Genetic Tests for Pulsating Exophthalmos

Anatomical Context for Pulsating Exophthalmos

MalaCards organs/tissues related to Pulsating Exophthalmos:

40
Eye, Brain, Thyroid, Prostate

Publications for Pulsating Exophthalmos

Articles related to Pulsating Exophthalmos:

(show top 50) (show all 159)
# Title Authors PMID Year
1
Clinical, radiological features and surgical strategies for 23 NF1 patients with intraorbital meningoencephalocele. 61
30868483 2019
2
An Eye with a Heartbeat: Carotid Cavernous Fistula-a Case Report. 61
29941376 2018
3
[Preliminary investigation on embolization of orbital vascular malformation with medical glue injection intraoperatively]. 61
29996611 2018
4
A brief history of carotid-cavernous fistula. 61
27636180 2017
5
Posttraumatic carotid-cavernous fistula: Pathogenetic mechanisms, diagnostic management and proper treatment. A case report. 61
27034767 2016
6
Carotid-Cavernous Fistula as a Complication of Facial Trauma: A Case Report. 61
26269734 2015
7
Treatment of sphenoid dysplasia with a titanium-reinforced porous polyethylene implant in orbitofrontal neurofibroma: report of three cases. 61
25308959 2014
8
Posttraumatic pulsating exophthalmos in a child. 61
24119872 2014
9
[Skull base reconstruction and peroperative treatment for cranio-orbital tumors]. 61
22702051 2012
10
Direct arteriovenous fistula at the inferolateral trunk mimicking carotid cavernous fistula without involving the cavernous sinus: a case report. 61
22089810 2012
11
Intraorbital arteriovenous malformation treated by transarterial embolization: technical case report. 61
21389884 2011
12
Reconstruction of the sphenoid wing in a case of neurofibromatosis type 1 and complex unilateral orbital dysplasia with pulsating exophthalmos. 61
21471549 2011
13
Reconstruction of skull base defects in sphenoid wing dysplasia associated with neurofibromatosis I with titanium mesh. 61
20702031 2010
14
[Pulse synchronous bruit, swollen eye, diplopia, exophthalmos, chemosis and diplopia three weeks after a head trauma]. 61
21049444 2010
15
Carotid cavernous sinus fistula presenting with pulsating exophthalmos and secondary glaucoma. 61
18839638 2008
16
Computer-aided design for three-dimensional titanium mesh used for repairing skull base bone defect in pediatric neurofibromatosis type 1. A novel approach combining biomodeling and neuronavigation. 61
18230928 2008
17
Neurosurgical implications of neurofibromatosis Type I in children. 61
16459992 2006
18
Reconstruction of Sphenoid Wing Dysplasia with Pulsating Exophthalmos in a Case of Neurofibromatosis Type 1 Supported by Intraoperative Navigation Using a New Skull Reference System. 61
15912180 2003
19
[One-sided pulsating exophthalmos]. 61
12955447 2003
20
[The diagnosis and treatment of traumatic carotid-cavernous fistula]. 61
15510648 2002
21
[Pulsating exophtalmos and contralateral carotid-cavernous fistula]. 61
12072830 2002
22
[Treatment of carotid-cavernous fistulas via endovascular approaches]. 61
11521570 2001
23
Carotico-cavernous fistula following septorhinoplasty. 61
10664691 1999
24
[Digital subtraction angiography of cerebrum for diagnosis of cavernous sinus fistula and its intravascular treatment]. 61
11835805 1999
25
Posttraumatic carotid-cavernous sinus fistula. 61
11951223 1999
26
[Spontaneous carotid-cavernous fistula: correlations between clinical findings and venous drainage]. 61
9244911 1997
27
Direct carotid-cavernous sinus fistulas. 61
8066592 1994
28
Direct carotid-cavernous sinus fistulas. 61
7966374 1994
29
Spontaneous carotid cavernous fistula presenting only with cranial nerve palsies. 61
8237686 1993
30
[Results of surgical treatment of retrobulbar tumors through osteoplastic supraorbital osteotomy]. 61
8232736 1993
31
Traumatic carotid-cavernous sinus fistula. 61
3204164 1988
32
Carotid-cavernous sinus fistula complicating a complex shotgun facial injury. 61
3223705 1988
33
[Diagnosis of pulsating exophthalmos (carotid-cavernous anastomosis)]. 61
3205544 1988
34
Pulsating unilateral exophthalmos due to traumatic aneurysm of the intraorbital ophthalmic artery. Case report. 61
6699711 1984
35
Pulsating exophthalmos associated with neurofibromatosis. 61
6421976 1984
36
[Case of cervical AVM associated with neurofibromatosis presenting unilateral pulsating exophthalmos]. 61
6200792 1983
37
[Pulsating exophthalmos associated with a post-traumatic carotid-cavernous fistula in a child]. 61
6640696 1983
38
The surgical management of orbital neurofibromatosis. 61
6407038 1983
39
Pulsating exophthalmos: orbital tumors in siblings. 61
6820739 1982
40
[Rare complications of secondary glaucoma in pulsating exophthalmos]. 61
7331323 1981
41
[Differential diagnosis of pulsating exophthalmos (author's transl)]. 61
7453027 1980
42
Empty sella syndrome, pulsating exophthalmos, and calvarial bone defects in a case of neurofibroma. 61
6782020 1980
43
[Pulsating exophthalmos and the post-traumatic orbital apex syndrome]. 61
725158 1978
44
An unusual case of bilateral pulsating exophthalmos. 61
666970 1978
45
Communicating exophthalmos: a sign of bilateral orbital roof defects. 61
665328 1978
46
Dural arteriovenous malformation with false aneurysm and exophthalmos. A successfully treated case. 61
707169 1978
47
Carotid-cavernous sinus fistula after trauma to the head. 61
269234 1977
48
[Dura arteriovenous malformation of the posterior fossa-clinical and angiographical analysis of 6 cases]. 61
945483 1976
49
[Case of von Recklinghausen's disease with unilateral pulsating exophthalmos]. 61
4473295 1974
50
[Pulsating exophthalmos due to a carotid-cavernous fistula]. 61
5042417 1972

Variations for Pulsating Exophthalmos

Expression for Pulsating Exophthalmos

Search GEO for disease gene expression data for Pulsating Exophthalmos.

Pathways for Pulsating Exophthalmos

Pathways related to Pulsating Exophthalmos according to GeneCards Suite gene sharing:

(show all 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.32 TGFBR2 TGFBR1 PDGFRB NF1 KITLG COL3A1
2
Show member pathways
12.71 TGFBR1 PDGFRB KITLG COL3A1
3 12.18 TGFBR2 TGFBR1 PDGFRB KITLG
4
Show member pathways
12.16 TGFBR2 TGFBR1 PDGFRB
5
Show member pathways
12.12 TGFBR2 TGFBR1 PDGFRB
6
Show member pathways
11.95 TGFBR1 PDGFRB KITLG
7 11.69 TGFBR2 TGFBR1 PDGFRB NF1 KITLG
8 11.62 TGFBR2 TGFBR1 NF1
9 11.34 TGFBR2 TGFBR1
10 11.27 TGFBR2 TGFBR1
11 11.24 TGFBR2 TGFBR1
12 11.13 TGFBR2 TGFBR1 COL3A1
13 10.97 TGFBR2 TGFBR1
14
Show member pathways
10.91 TGFBR2 TGFBR1
15 10.87 TGFBR2 TGFBR1
16 10.83 TGFBR2 TGFBR1
17 10.73 TGFBR2 TGFBR1
18 10.55 TGFBR2 TGFBR1

GO Terms for Pulsating Exophthalmos

Cellular components related to Pulsating Exophthalmos according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 receptor complex GO:0043235 8.8 TGFBR2 TGFBR1 PDGFRB

Biological processes related to Pulsating Exophthalmos according to GeneCards Suite gene sharing:

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.8 TGFBR2 TGFBR1 PDGFRB KITLG
2 MAPK cascade GO:0000165 9.77 PDGFRB NF1 KITLG
3 positive regulation of protein kinase B signaling GO:0051897 9.7 TGFBR1 PDGFRB KITLG
4 positive regulation of smooth muscle cell proliferation GO:0048661 9.63 TGFBR2 PDGFRB
5 positive regulation of MAP kinase activity GO:0043406 9.62 PDGFRB KITLG
6 positive regulation of stress fiber assembly GO:0051496 9.62 TGFBR1 TAC1
7 positive regulation of epithelial to mesenchymal transition GO:0010718 9.61 TGFBR2 TGFBR1
8 lens development in camera-type eye GO:0002088 9.61 TGFBR2 TGFBR1
9 negative regulation of endothelial cell proliferation GO:0001937 9.6 TGFBR1 NF1
10 positive regulation of epithelial cell migration GO:0010634 9.58 TGFBR2 TAC1
11 ventricular septum morphogenesis GO:0060412 9.58 TGFBR2 TGFBR1
12 embryonic cranial skeleton morphogenesis GO:0048701 9.57 TGFBR2 TGFBR1
13 positive regulation of Rho protein signal transduction GO:0035025 9.56 PDGFRB COL3A1
14 positive regulation of reactive oxygen species metabolic process GO:2000379 9.55 TGFBR2 PDGFRB
15 artery morphogenesis GO:0048844 9.54 TGFBR1 NF1
16 male gonad development GO:0008584 9.54 TGFBR1 PDGFRB KITLG
17 activin receptor signaling pathway GO:0032924 9.51 TGFBR2 TGFBR1
18 transforming growth factor beta receptor signaling pathway GO:0007179 9.5 TGFBR2 TGFBR1 COL3A1
19 embryonic hemopoiesis GO:0035162 9.48 TGFBR2 KITLG
20 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.46 TGFBR2 TGFBR1
21 heart development GO:0007507 9.46 TGFBR2 TGFBR1 NF1 COL3A1
22 pathway-restricted SMAD protein phosphorylation GO:0060389 9.43 TGFBR2 TGFBR1
23 response to cholesterol GO:0070723 9.4 TGFBR2 TGFBR1
24 positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation GO:1905007 9.26 TGFBR2 TGFBR1
25 collagen fibril organization GO:0030199 9.13 TGFBR1 NF1 COL3A1
26 wound healing GO:0042060 9.02 TGFBR2 TGFBR1 PDGFRB NF1 COL3A1

Molecular functions related to Pulsating Exophthalmos according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 SMAD binding GO:0046332 9.4 TGFBR2 TGFBR1
2 growth factor binding GO:0019838 9.37 TGFBR1 PDGFRB
3 transforming growth factor beta binding GO:0050431 9.32 TGFBR2 TGFBR1
4 activin binding GO:0048185 9.26 TGFBR2 TGFBR1
5 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.16 TGFBR2 TGFBR1
6 platelet-derived growth factor binding GO:0048407 8.96 PDGFRB COL3A1
7 transforming growth factor beta-activated receptor activity GO:0005024 8.62 TGFBR2 TGFBR1

Sources for Pulsating Exophthalmos

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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