MCID: INT026
MIFTS: 20

Intermittent Proptosis

Categories: Bone diseases

Aliases & Classifications for Intermittent Proptosis

MalaCards integrated aliases for Intermittent Proptosis:

Name: Intermittent Proptosis 12 15
Intermittent Exophthalmos 12 71

Classifications:



External Ids:

Disease Ontology 12 DOID:12363
ICD9CM 34 376.34
SNOMED-CT 67 49774006
ICD10 32 H05.25
UMLS 71 C0155270

Summaries for Intermittent Proptosis

MalaCards based summary : Intermittent Proptosis, also known as intermittent exophthalmos, is related to varicose veins and orbital varix. An important gene associated with Intermittent Proptosis is HHEX (Hematopoietically Expressed Homeobox). Affiliated tissues include bone and retina, and related phenotypes are liver/biliary system and respiratory system

Related Diseases for Intermittent Proptosis

Diseases related to Intermittent Proptosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 varicose veins 10.1
2 orbital varix 10.1
3 varicocele 10.0
4 yemenite deaf-blind hypopigmentation syndrome 9.9
5 enophthalmos 9.9
6 toxoplasmosis 9.9
7 headache 9.9
8 exophthalmos 9.9
9 retroperitoneal hemangiopericytoma 9.7 PECAM1 HHEX
10 capillary lymphangioma 9.5 PECAM1 FLNA
11 angiokeratoma of fordyce 9.5 PECAM1 FLNA
12 subungual glomus tumor 9.5 PECAM1 FLNA
13 fibroma 9.4 PECAM1 FLNA
14 aortic valve disease 1 9.2 PECAM1 FLNA

Graphical network of the top 20 diseases related to Intermittent Proptosis:



Diseases related to Intermittent Proptosis

Symptoms & Phenotypes for Intermittent Proptosis

MGI Mouse Phenotypes related to Intermittent Proptosis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 9.13 FLNA HHEX PECAM1
2 respiratory system MP:0005388 8.8 FLNA HHEX PECAM1

Drugs & Therapeutics for Intermittent Proptosis

Search Clinical Trials , NIH Clinical Center for Intermittent Proptosis

Genetic Tests for Intermittent Proptosis

Anatomical Context for Intermittent Proptosis

MalaCards organs/tissues related to Intermittent Proptosis:

40
Bone, Retina

Publications for Intermittent Proptosis

Articles related to Intermittent Proptosis:

(show top 50) (show all 58)
# Title Authors PMID Year
1
Dilated orbital vein causing Valsalva-induced proptosis. 61
32313489 2020
2
[Temporary elevation deficit with exophthalmos in a 4-year-old child]. 61
30953126 2020
3
[Enophthalmos secondary to an orbital varix]. 61
24736258 2014
4
[Orbital varix presenting with enophthalmos. A case report]. 61
20452091 2010
5
Orbital varix rupture during cataract surgery. 61
15050276 2004
6
[Orbital varices]. 61
15598045 2004
7
Two cases of orbital lymphangioma associated with vascular abnormalities of the retina and iris. 61
14711734 2004
8
Vascular hamartoma of the orbit. 61
11213733 2000
9
Orbital venous anomalies demonstrated by spiral computed tomography. 61
9307642 1997
10
Orbital lesions in the blue rubber bleb nevus syndrome. 61
8643250 1996
11
[Orbital varix presenting orbital apex syndrome]. 61
7877740 1995
12
Embolisation of orbital varix. 61
7991099 1994
13
Spontaneous orbital hemorrhage in adult females. A report of three cases. 61
1475094 1992
14
[Varicosis orbitalis. Its demonstration by color-coded Doppler sonography and computed tomography]. 61
1912537 1991
15
[Intermittent exophthalmos]. 61
1815924 1991
16
Intermittent exophthalmos. 61
2778424 1989
17
[Intermittent exophthalmos]. 61
3710381 1986
18
Intermittent exophthalmos. 61
6827338 1983
19
[Intermittent exophthalmos of the orbit. Apropos of 3 cases]. 61
6872111 1983
20
Intermittent exophthalmos studied with computerized tomography. Report of two cases. 61
7086526 1982
21
[Unilateral exophthalmos - diagnostic and therapeutic procedure (author's transl)]. 61
7322266 1981
22
[Intermittent exophthalmos]. 61
7301251 1981
23
[Intermittent exophthalmos -- a case report]. 61
7278826 1981
24
[Intermittent exophthalmos due to "valves" in the vena ophthalmica superior]. 61
153301 1979
25
[Diagnostic ultrasonography and X-ray computer tomography in space-occupying orbital lesions--a joint effort (author's transl)]. 61
703142 1978
26
[Intermittent exophthalmos]. 61
933451 1976
27
Intermittent exophthalmos due to orbital varicose vein accompanied by varicose veins of the legs. 61
1247263 1976
28
Atypical intermittent exophthalmos due to hyperplasia of lacrimal gland associated with dacryolithiasis. 61
4772798 1973
29
[Intermittent exophthalmos during general anesthesia]. 61
4670254 1972
30
[Intermittent exophthalmos]. 61
5148597 1971
31
Intermittent exophthalmos. 61
5107065 1971
32
[Intermittent exophthalmos due to orbitary varicocele]. 61
5170385 1971
33
[Bilateral intermittent exophthalmos caused by acquired toxoplasmosis]. 61
5570917 1971
34
[Case of intermittent exophthalmos]. 61
5468441 1970
35
[Intermittent exophthalmos with conjunctival varices]. 61
5390913 1969
36
[Intermittent exophthalmos. (Orbital phlebographic studies)]. 61
5720013 1968
37
A case of intermittent exophthalmos. 61
5644936 1968
38
[Intermittent exophthalmos]. 61
5599583 1967
39
The pathological basis for postural (intermittent) exophthalmos. Case report. 61
6027447 1967
40
Orbital venography in the diagnosis of intermittent exophthalmos. 61
5337703 1967
41
Intermittent exophthalmos (report of three cases). 61
5990442 1966
42
[On an unusual case of intermittent exophthalmos]. 61
5993559 1966
43
[Double maxillary and ethmoido-sphenoidal mucoceles with intermittent exophthalmos]. 61
5960647 1966
44
[Congenital intermittent exophthalmos. Clinical and carotidographic study]. 61
5912502 1966
45
[A CASE OF INTERMITTENT EXOPHTHALMOS CURED BY OPERATION]. 61
14164540 1964
46
[A CASE OF SURGICALLY TREATED INTERMITTENT EXOPHTHALMOS]. 61
14102577 1963
47
[ON A CASE OF INTERMITTENT EXOPHTHALMOS CAUSED BY ORBITAL VARICOCELE]. 61
14095137 1963
48
Intermittent exophthalmos. 61
14015094 1963
49
[Case of intermittent exophthalmos]. 61
13918369 1962
50
[Intermittent exophthalmos; a surgically cured case]. 61
13529792 1957

Variations for Intermittent Proptosis

Expression for Intermittent Proptosis

Search GEO for disease gene expression data for Intermittent Proptosis.

Pathways for Intermittent Proptosis

GO Terms for Intermittent Proptosis

Cellular components related to Intermittent Proptosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell-cell junction GO:0005911 8.62 PECAM1 FLNA

Biological processes related to Intermittent Proptosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 platelet degranulation GO:0002576 8.96 PECAM1 FLNA
2 regulation of cell migration GO:0030334 8.62 PECAM1 FLNA

Molecular functions related to Intermittent Proptosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription factor binding GO:0008134 8.96 HHEX FLNA
2 protein homodimerization activity GO:0042803 8.8 PECAM1 HHEX FLNA

Sources for Intermittent Proptosis

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
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