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MCID: PLS001
MIFTS: 30

Pulsating Exophthalmos

Categories: Bone diseases
Genes Tissues Related diseases Publications Pathways
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Aliases & Classifications for Pulsating Exophthalmos

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MalaCards integrated aliases for Pulsating Exophthalmos:

Name: Pulsating Exophthalmos 12 15 71

Classifications:

MalaCards categories:
Anatomical: Bone diseases
See all MalaCards categories (disease lists)


External Ids:

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

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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 Pathways in cancer and MAPK signaling pathway. Affiliated tissues include bone, eye and brain, and related phenotypes are Decreased viability and Decreased viability

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Related Diseases for Pulsating Exophthalmos

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

(show all 47)
# Related Disease Score Top Affiliating Genes
1 aneurysm 30.1 TGFBR2 TGFBR1 COL3A1
2 intracranial aneurysm 29.5 TGFBR2 TGFBR1 COL3A1
3 exophthalmos 11.1
4 neurofibromatosis 10.6
5 fourth cranial nerve palsy 10.4 NT5C3A DPT
6 sphenoid sinusitis 10.4 RHNO1 NT5C3A
7 cavernous sinus thrombosis 10.4 RHNO1 NT5C3A
8 intracranial sinus thrombosis 10.3 RHNO1 NT5C3A
9 spinal cord melanoma 10.3 NT5C3A BMP2K
10 intraocular pressure quantitative trait locus 10.3
11 orbital disease 10.3 RHNO1 NT5C3A NF1
12 meningocele 10.2
13 arteriovenous malformation 10.2
14 acantholytic acanthoma 10.1 TGFBR1 NF1
15 cerebral arterial disease 10.1 SLC25A16 NF1 COL3A1
16 3-methylglutaconic aciduria, type iii 10.1
17 aphasia 10.1
18 ptosis 10.1
19 malignant hypertension 10.1
20 vascular disease 10.1
21 hemangioma 10.1
22 empty sella syndrome 10.1
23 cavernous hemangioma 10.1
24 cataract 10.1
25 neurofibroma 10.1
26 head injury 10.1
27 intracranial hypotension 9.9 TGFBR2 PTGDS
28 subclavian artery aneurysm 9.9 TGFBR2 SLC25A16 NF1
29 transient hypogammaglobulinemia of infancy 9.8 TGFBR2 TGFBR1
30 transient hypogammaglobulinemia 9.8 TGFBR2 TGFBR1
31 eisenmenger syndrome 9.8 TGFBR2 TGFBR1
32 loeys-dietz syndrome 5 9.8 TGFBR2 TGFBR1
33 multiple self-healing squamous epithelioma 9.7 TGFBR2 TGFBR1
34 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 9.7 TGFBR2 TGFBR1
35 tricuspid valve prolapse 9.7 TGFBR2 TGFBR1 COL3A1
36 heritable thoracic aortic disease 9.6 TGFBR2 TGFBR1 COL3A1
37 aortic disease 9.6 TGFBR2 TGFBR1 COL3A1
38 arterial tortuosity syndrome 9.6 TGFBR2 TGFBR1 COL3A1
39 aortic dissection 9.6 TGFBR2 TGFBR1 COL3A1
40 collagen disease 9.6 TGFBR2 TGFBR1 COL3A1
41 familial thoracic aortic aneurysm and aortic dissection 9.6 TGFBR2 TGFBR1 COL3A1
42 aortic aneurysm, familial thoracic 1 9.6 TGFBR2 TGFBR1 COL3A1
43 tendinosis 9.5 TGFBR2 PDGFRB
44 orthostatic intolerance 9.5 TGFBR2 TGFBR1 COL3A1
45 loeys-dietz syndrome 9.5 TGFBR2 TGFBR1 COL3A1
46 marfan syndrome 9.1 TGFBR2 TGFBR1 COL3A1
47 ewing sarcoma 8.9 TGFBR2 PDGFRB NF1 KITLG

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



Diseases related to Pulsating Exophthalmos
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Symptoms & Phenotypes for Pulsating Exophthalmos

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

26 (show all 32)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00107-A-1 10.6 TGFBR2
2 Decreased viability GR00221-A-1 10.6 COL3A1 NF1 PDGFRB TGFBR1 TGFBR2
3 Decreased viability GR00221-A-2 10.6 ALYREF BMP2K COL3A1 NF1
4 Decreased viability GR00221-A-3 10.6 EXT1 PDGFRB TGFBR2
5 Decreased viability GR00221-A-4 10.6 ALYREF BMP2K COL3A1 NF1 PDGFRB TGFBR1
6 Decreased viability GR00249-S 10.6 BMP2K DPT NCOA4 NF1 TGFBR1 TGFBR2
7 Decreased viability GR00301-A 10.6 BMP2K
8 Decreased viability GR00342-S-1 10.6 PDGFRB
9 Decreased viability GR00381-A-1 10.6 CENPJ
10 Decreased viability GR00386-A-1 10.6 CENPJ DPT KITLG NCOA4 NF1 PSEN2
11 Decreased viability GR00402-S-2 10.6 CENPJ TGFBR1 TGFBR2
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 10.18 TGFBR2
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-121 10.18 TGFBR2
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-123 10.18 TGFBR2
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-128 10.18 NCOA4
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 10.18 TGFBR2
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-152 10.18 TGFBR2
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 10.18 TGFBR2
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-159 10.18 NCOA4
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-164 10.18 TGFBR2
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 10.18 TGFBR1
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 10.18 TGFBR1
23 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 10.18 TGFBR2
24 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 10.18 NCOA4
25 Decreased shRNA abundance (Z-score < -2) GR00366-A-214 10.18 TGFBR2
26 Decreased shRNA abundance (Z-score < -2) GR00366-A-36 10.18 TGFBR1
27 Decreased shRNA abundance (Z-score < -2) GR00366-A-44 10.18 NCOA4
28 Decreased shRNA abundance (Z-score < -2) GR00366-A-65 10.18 TGFBR2
29 Decreased shRNA abundance (Z-score < -2) GR00366-A-73 10.18 TGFBR2
30 Decreased shRNA abundance (Z-score < -2) GR00366-A-81 10.18 NCOA4 TGFBR2
31 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 10.18 TGFBR2
32 Increased the percentage of infected cells GR00402-S-1 8.32 NPIPA1

MGI Mouse Phenotypes related to Pulsating Exophthalmos:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.97 COL3A1 EXT1 KITLG NF1 PDGFRB PSEN2
2 integument MP:0010771 9.96 COL3A1 DPT EXT1 KITLG NF1 PDGFRB
3 craniofacial MP:0005382 9.95 CENPJ EXT1 KITLG NF1 PDGFRB PSEN2
4 embryo MP:0005380 9.92 CENPJ EXT1 KITLG NF1 PDGFRB PSEN2
5 neoplasm MP:0002006 9.63 EXT1 KITLG NF1 PTGDS TGFBR1 TGFBR2
6 skeleton MP:0005390 9.61 CENPJ EXT1 JAM2 KITLG NF1 PDGFRB
7 vision/eye MP:0005391 9.32 BMP2K CENPJ DPT EXT1 JAM2 KITLG
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Drugs & Therapeutics for Pulsating Exophthalmos

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Search Clinical Trials , NIH Clinical Center for Pulsating Exophthalmos

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Genetic Tests for Pulsating Exophthalmos

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Anatomical Context for Pulsating Exophthalmos

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MalaCards organs/tissues related to Pulsating Exophthalmos:

40
Bone, Eye, Brain, Thyroid, Prostate, Testes
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Publications for Pulsating Exophthalmos

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Articles related to Pulsating Exophthalmos:

(show top 50) (show all 158)
# 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
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Variations for Pulsating Exophthalmos

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Expression for Pulsating Exophthalmos

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Search GEO for disease gene expression data for Pulsating Exophthalmos.
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Pathways for Pulsating Exophthalmos

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

# Super pathways Score Top Affiliating Genes
1
Pathways in cancer 36
12.08 TGFBR2 TGFBR1 PDGFRB NCOA4 KITLG
2
MAPK signaling pathway 36 1
11.69 TGFBR2 TGFBR1 PDGFRB NF1 KITLG
3
AGE-RAGE signaling pathway in diabetic complications 36
11.33 TGFBR2 TGFBR1 COL3A1
4
IL-4 Signaling and its Primary Biological Effects in Different Immune Cell Types 64
10.49 TGFBR2 TGFBR1
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GO Terms for Pulsating Exophthalmos

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

# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.02 TGFBR2 TGFBR1 PSEN2 PDGFRB JAM2

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.71 TGFBR2 TGFBR1 NF1 COL3A1
2 transforming growth factor beta receptor signaling pathway GO:0007179 9.65 TGFBR2 TGFBR1 COL3A1
3 activin receptor signaling pathway GO:0032924 9.52 TGFBR2 TGFBR1
4 transmembrane receptor protein serine/threonine kinase signaling pathway GO:0007178 9.51 TGFBR2 TGFBR1
5 blood vessel development GO:0001568 9.5 TGFBR2 PDGFRB COL3A1
6 embryonic hemopoiesis GO:0035162 9.49 TGFBR2 KITLG
7 smooth muscle tissue development GO:0048745 9.46 PDGFRB NF1
8 male gonad development GO:0008584 9.46 TGFBR1 PDGFRB NCOA4 KITLG
9 pathway-restricted SMAD protein phosphorylation GO:0060389 9.43 TGFBR2 TGFBR1
10 response to cholesterol GO:0070723 9.37 TGFBR2 TGFBR1
11 positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation GO:1905007 9.26 TGFBR2 TGFBR1
12 collagen fibril organization GO:0030199 9.26 TGFBR1 NF1 DPT COL3A1
13 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 activin binding GO:0048185 9.32 TGFBR2 TGFBR1
2 transmembrane receptor protein serine/threonine kinase activity GO:0004675 9.26 TGFBR2 TGFBR1
3 platelet-derived growth factor binding GO:0048407 9.16 PDGFRB COL3A1
4 transforming growth factor beta-activated receptor activity GO:0005024 8.96 TGFBR2 TGFBR1
5 SMAD binding GO:0046332 8.8 TGFBR2 TGFBR1 COL3A1
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Sources for Pulsating Exophthalmos

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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