MCID: PLS001
MIFTS: 32

Pulsating Exophthalmos

Categories: Bone diseases
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Aliases & Classifications for Pulsating Exophthalmos

MalaCards integrated aliases for Pulsating Exophthalmos:

Name: Pulsating Exophthalmos 11 14 71

Classifications:



External Ids:

Disease Ontology 11 DOID:12364
ICD9CM 34 376.35
SNOMED-CT 68 2284002
UMLS 71 C0155271

Summaries for Pulsating Exophthalmos

MalaCards based summary: Pulsating Exophthalmos is related to neurofibromatosis-noonan syndrome and meningocele. An important gene associated with Pulsating Exophthalmos is NF1 (Neurofibromin 1), and among its related pathways/superpathways are Disease and RAF/MAP kinase cascade. Affiliated tissues include bone, eye and prostate, and related phenotypes are Decreased viability and homeostasis/metabolism

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 122)
# Related Disease Score Top Affiliating Genes
1 neurofibromatosis-noonan syndrome 31.0 SPRED1 NF1
2 meningocele 30.5 PTGDS NF1
3 neurofibroma 29.8 SPRED1 NF1 KITLG
4 neurofibromatosis 29.7 SPRED1 PMS2 NF1 MSH6 KITLG
5 neurofibromatosis, type i 29.2 SPRED1 PMS2 NF1 MSH6 KITLG
6 malignant dermis tumor 10.2 SPRED1 NF1
7 skin granular cell tumor 10.2 SPRED1 NF1
8 vulvar melanoma 10.2 SPRED1 NF1
9 malignant skin fibrous histiocytoma 10.2 SPRED1 NF1
10 optic nerve neoplasm 10.2 SPRED1 NF1
11 optic nerve glioma 10.2 SPRED1 NF1
12 mucosal melanoma 10.2 SPRED1 NF1
13 arteriovenous malformation 10.2
14 intracranial hypotension 10.1 TGFBR2 PTGDS
15 neurilemmomatosis 10.1 SPRED1 NF1
16 subclavian artery aneurysm 10.1 TGFBR2 TGFBR1
17 legius syndrome 10.1 SPRY1 SPRED1 NF1
18 noonan syndrome with multiple lentigines 10.1 SPRY1 SPRED1 NF1
19 cardiofaciocutaneous syndrome 1 10.1 SPRY1 SPRED1 NF1
20 loeys-dietz syndrome 5 10.1 TGFBR2 TGFBR1
21 multiple self-healing squamous epithelioma 10.1 TGFBR2 TGFBR1
22 loeys-dietz syndrome 2 10.0 TGFBR2 TGFBR1
23 mitochondrial dna depletion syndrome 12b 10.0 TGFBR2 TGFBR1
24 loeys-dietz syndrome 3 10.0 TGFBR2 TGFBR1
25 loeys-dietz syndrome 1 10.0 TGFBR2 TGFBR1
26 hemifacial hyperplasia 10.0
27 renal cell carcinoma, nonpapillary 10.0
28 prostate cancer 10.0
29 3-methylglutaconic aciduria, type iii 10.0
30 intraocular pressure quantitative trait locus 10.0
31 vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome 10.0
32 aphasia 10.0
33 ptosis 10.0
34 malignant hypertension 10.0
35 vascular disease 10.0
36 hemangioma 10.0
37 empty sella syndrome 10.0
38 cavernous hemangioma 10.0
39 cataract 10.0
40 polyarteritis nodosa 10.0
41 meningoencephalocele 10.0
42 loeys-dietz syndrome 4 10.0 TGFBR2 TGFBR1
43 aortic valve insufficiency 10.0 TGFBR2 TGFBR1
44 extrahepatic bile duct adenoma 10.0 PMS2 MSH6
45 rasopathy 10.0 SPRY1 SPRED1 NF1
46 adenosquamous colon carcinoma 10.0 PMS2 MSH6
47 jejunal adenocarcinoma 10.0 PMS2 MSH6
48 periampullary adenoma 10.0 PMS2 MSH6
49 jejunal cancer 10.0 PMS2 MSH6
50 descending colon cancer 10.0 PMS2 MSH6

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:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00107-A-1 9.88 TGFBR2
2 Decreased viability GR00221-A-1 9.88 COL3A1 NF1 TGFBR1 TGFBR2
3 Decreased viability GR00221-A-2 9.88 COL3A1 NF1
4 Decreased viability GR00221-A-3 9.88 TGFBR2
5 Decreased viability GR00221-A-4 9.88 COL3A1 NF1 TGFBR1 TGFBR2
6 Decreased viability GR00249-S 9.88 NF1 TGFBR1 TGFBR2
7 Decreased viability GR00386-A-1 9.88 NF1
8 Decreased viability GR00402-S-2 9.88 TGFBR1 TGFBR2

MGI Mouse Phenotypes related to Pulsating Exophthalmos:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.09 COL3A1 KITLG MSH6 NF1 PMS2 PTGDS
2 neoplasm MP:0002006 10.06 KITLG MSH6 NF1 PMS2 PTGDS SPRY1
3 endocrine/exocrine gland MP:0005379 10.01 KITLG NF1 PMS2 PTGDS SPRED1 SPRY1
4 immune system MP:0005387 9.91 COL3A1 KITLG MSH6 NF1 PMS2 PTGDS
5 digestive/alimentary MP:0005381 9.85 COL3A1 KITLG NF1 PMS2 TGFBR1 TGFBR2
6 hematopoietic system MP:0005397 9.81 COL3A1 KITLG MSH6 NF1 PMS2 PTGDS
7 craniofacial MP:0005382 9.72 KITLG NF1 SPRED1 TGFBR1 TGFBR2
8 mortality/aging MP:0010768 9.61 COL3A1 KITLG MSH6 NF1 PMS2 PTGDS
9 integument MP:0010771 9.23 COL3A1 KITLG MSH6 NF1 PTGDS SPRED1

Drugs & Therapeutics for Pulsating Exophthalmos

Search Clinical Trials, NIH Clinical Center for Pulsating Exophthalmos

Genetic Tests for Pulsating Exophthalmos

Anatomical Context for Pulsating Exophthalmos

Organs/tissues related to Pulsating Exophthalmos:

MalaCards : Bone, Eye, Prostate, Thyroid, Brain

Publications for Pulsating Exophthalmos

Articles related to Pulsating Exophthalmos:

(show top 50) (show all 161)
# Title Authors PMID Year
1
Pulsating Exophthalmos due to Intraorbital Meningoencephalocele. 62
35472445 2022
2
Transpalpebral transorbital neuroendoscopic (TONES) repair of orbital meningoencephalocele: a technical note. 62
33645364 2021
3
Clinical, radiological features and surgical strategies for 23 NF1 patients with intraorbital meningoencephalocele. 62
30868483 2019
4
An Eye with a Heartbeat: Carotid Cavernous Fistula-a Case Report. 62
29941376 2018
5
[Preliminary investigation on embolization of orbital vascular malformation with medical glue injection intraoperatively]. 62
29996611 2018
6
A brief history of carotid-cavernous fistula. 62
27636180 2017
7
Posttraumatic carotid-cavernous fistula: Pathogenetic mechanisms, diagnostic management and proper treatment. A case report. 62
27034767 2016
8
Carotid-Cavernous Fistula as a Complication of Facial Trauma: A Case Report. 62
26269734 2015
9
Treatment of sphenoid dysplasia with a titanium-reinforced porous polyethylene implant in orbitofrontal neurofibroma: report of three cases. 62
25308959 2014
10
Posttraumatic pulsating exophthalmos in a child. 62
24119872 2014
11
[Skull base reconstruction and peroperative treatment for cranio-orbital tumors]. 62
22702051 2012
12
Direct arteriovenous fistula at the inferolateral trunk mimicking carotid cavernous fistula without involving the cavernous sinus: a case report. 62
22089810 2012
13
Intraorbital arteriovenous malformation treated by transarterial embolization: technical case report. 62
21389884 2011
14
Reconstruction of the sphenoid wing in a case of neurofibromatosis type 1 and complex unilateral orbital dysplasia with pulsating exophthalmos. 62
21471549 2011
15
Reconstruction of skull base defects in sphenoid wing dysplasia associated with neurofibromatosis I with titanium mesh. 62
20702031 2010
16
[Pulse synchronous bruit, swollen eye, diplopia, exophthalmos, chemosis and diplopia three weeks after a head trauma]. 62
21049444 2010
17
Carotid cavernous sinus fistula presenting with pulsating exophthalmos and secondary glaucoma. 62
18839638 2008
18
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. 62
18230928 2008
19
Neurosurgical implications of neurofibromatosis Type I in children. 62
16459992 2006
20
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. 62
15912180 2003
21
[One-sided pulsating exophthalmos]. 62
12955447 2003
22
[The diagnosis and treatment of traumatic carotid-cavernous fistula]. 62
15510648 2002
23
[Pulsating exophtalmos and contralateral carotid-cavernous fistula]. 62
12072830 2002
24
[Treatment of carotid-cavernous fistulas via endovascular approaches]. 62
11521570 2001
25
Carotico-cavernous fistula following septorhinoplasty. 62
10664691 1999
26
[Digital subtraction angiography of cerebrum for diagnosis of cavernous sinus fistula and its intravascular treatment]. 62
11835805 1999
27
Posttraumatic carotid-cavernous sinus fistula. 62
11951223 1999
28
[Spontaneous carotid-cavernous fistula: correlations between clinical findings and venous drainage]. 62
9244911 1997
29
Direct carotid-cavernous sinus fistulas. 62
8066592 1994
30
Direct carotid-cavernous sinus fistulas. 62
7966374 1994
31
Spontaneous carotid cavernous fistula presenting only with cranial nerve palsies. 62
8237686 1993
32
[Results of surgical treatment of retrobulbar tumors through osteoplastic supraorbital osteotomy]. 62
8232736 1993
33
Traumatic carotid-cavernous sinus fistula. 62
3204164 1988
34
Carotid-cavernous sinus fistula complicating a complex shotgun facial injury. 62
3223705 1988
35
[Diagnosis of pulsating exophthalmos (carotid-cavernous anastomosis)]. 62
3205544 1988
36
Pulsating unilateral exophthalmos due to traumatic aneurysm of the intraorbital ophthalmic artery. Case report. 62
6699711 1984
37
Pulsating exophthalmos associated with neurofibromatosis. 62
6421976 1984
38
[Case of cervical AVM associated with neurofibromatosis presenting unilateral pulsating exophthalmos]. 62
6200792 1983
39
[Pulsating exophthalmos associated with a post-traumatic carotid-cavernous fistula in a child]. 62
6640696 1983
40
The surgical management of orbital neurofibromatosis. 62
6407038 1983
41
Pulsating exophthalmos: orbital tumors in siblings. 62
6820739 1982
42
[Rare complications of secondary glaucoma in pulsating exophthalmos]. 62
7331323 1981
43
[Differential diagnosis of pulsating exophthalmos (author's transl)]. 62
7453027 1980
44
Empty sella syndrome, pulsating exophthalmos, and calvarial bone defects in a case of neurofibroma. 62
6782020 1980
45
[Pulsating exophthalmos and the post-traumatic orbital apex syndrome]. 62
725158 1978
46
An unusual case of bilateral pulsating exophthalmos. 62
666970 1978
47
Communicating exophthalmos: a sign of bilateral orbital roof defects. 62
665328 1978
48
Dural arteriovenous malformation with false aneurysm and exophthalmos. A successfully treated case. 62
707169 1978
49
Carotid-cavernous sinus fistula after trauma to the head. 62
269234 1977
50
[Dura arteriovenous malformation of the posterior fossa-clinical and angiographical analysis of 6 cases]. 62
945483 1976

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
13.13 TGFBR2 TGFBR1 SPRED1 PMS2 NF1 MSH6
2
Show member pathways
13.06 TGFBR2 TGFBR1 SPRED1 NF1 KITLG
3 12.91 TGFBR2 TGFBR1 SPRY1 SPRED1 NF1 KITLG
4 12.48 SPRY1 SPRED1 KITLG COL3A1
5
Show member pathways
12.18 TGFBR2 TGFBR1 NF1 MSH6
6 12.14 TGFBR2 TGFBR1 NF1
7 11.87 TGFBR2 TGFBR1 MSH6
8 11.67 SPRY1 SPRED1 KITLG
9 11.1 TGFBR1 KITLG
10 11.1 TGFBR2 TGFBR1 NF1 MSH6
11 11.02 PMS2 MSH6
12 10.99 TGFBR2 TGFBR1
13
Show member pathways
10.96 TGFBR2 TGFBR1
14 10.91 TGFBR2 TGFBR1
15
Show member pathways
10.89 TGFBR2 TGFBR1
16 10.71 TGFBR2 TGFBR1
17 10.63 TGFBR1 TGFBR2
18 10.6 TGFBR1 TGFBR2

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 transforming growth factor beta ligand-receptor complex GO:0070021 8.92 TGFBR2 TGFBR1

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 10.06 COL3A1 NF1 TGFBR1 TGFBR2
2 transforming growth factor beta receptor signaling pathway GO:0007179 9.97 TGFBR2 TGFBR1 COL3A1
3 activin receptor signaling pathway GO:0032924 9.88 TGFBR2 TGFBR1
4 embryonic hemopoiesis GO:0035162 9.87 TGFBR2 KITLG
5 pathway-restricted SMAD protein phosphorylation GO:0060389 9.85 TGFBR2 TGFBR1
6 somatic hypermutation of immunoglobulin genes GO:0016446 9.83 PMS2 MSH6
7 collagen fibril organization GO:0030199 9.8 TGFBR1 NF1 COL3A1
8 response to cholesterol GO:0070723 9.78 TGFBR2 TGFBR1
9 negative regulation of lens fiber cell differentiation GO:1902747 9.71 SPRY1 SPRED1
10 regulation of signal transduction GO:0009966 9.61 SPRY1 SPRED1 NF1
11 regulation of macromolecule metabolic process GO:0060255 9.58 TGFBR2 TGFBR1
12 regulation of primary metabolic process GO:0080090 9.56 TGFBR2 TGFBR1
13 positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation GO:1905007 9.56 TGFBR2 TGFBR1
14 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.54 TGFBR2 TGFBR1
15 regulation of nitrogen compound metabolic process GO:0051171 9.51 TGFBR2 TGFBR1
16 mast cell proliferation GO:0070662 9.46 NF1 KITLG
17 regulation of multicellular organismal process GO:0051239 9.37 TGFBR2 TGFBR1
18 mast cell apoptotic process GO:0033024 9.26 NF1 KITLG
19 wound healing GO:0042060 9.23 TGFBR2 TGFBR1 NF1 COL3A1

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

# Name GO ID Score Top Affiliating Genes
1 ATP-dependent DNA damage sensor activity GO:0140664 9.71 PMS2 MSH6
2 activin binding GO:0048185 9.67 TGFBR2 TGFBR1
3 mismatched DNA binding GO:0030983 9.5 PMS2 MSH6
4 transforming growth factor beta receptor activity GO:0005024 9.46 TGFBR2 TGFBR1
5 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.43 TGFBR2 TGFBR1
6 SMAD binding GO:0046332 9.43 TGFBR2 TGFBR1 COL3A1
7 stem cell factor receptor binding GO:0005173 8.92 SPRED1 KITLG

Sources for Pulsating Exophthalmos

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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