MCID: BLP004
MIFTS: 30

Blepharophimosis malady

Categories: Rare diseases, Eye diseases

Aliases & Classifications for Blepharophimosis

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Aliases & Descriptions for Blepharophimosis:

Name: Blepharophimosis 10 45 47 12 36 65

Classifications:



External Ids:

Disease Ontology10 DOID:10348
ICD1027 H02.52
ICD9CM29 374.46
MeSH36 D016569
UMLS65 C0005744

Summaries for Blepharophimosis

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Wikipedia:68 Blepharophimosis is a condition where the patient has bilateral ptosis with reduced lid size, vertically... more...

MalaCards based summary: Blepharophimosis is related to blepharophimosis-intellectual disability syndrome, sbbys type and blepharophimosis, epicanthus inversus, and ptosis, type 1. An important gene associated with Blepharophimosis is FOXL2 (Forkhead Box L2). Affiliated tissues include endothelial, eye and lung.

Related Diseases for Blepharophimosis

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

(show top 50)    (show all 226)
idRelated DiseaseScoreTop Affiliating Genes
1blepharophimosis-intellectual disability syndrome, sbbys type33.1FOXL2, KAT6B, MED12
2blepharophimosis, epicanthus inversus, and ptosis, type 112.7
3blepharophimosis intellectual disability syndromes12.5
4blepharophimosis with ptosis, syndactyly, and short stature12.3
5blepharophimosis-intellectual disability syndrome, ohdo type12.3
6blepharophimosis-epicanthus inversus-ptosis due to copy number variations12.3
7pseudopapilledema blepharophimosis hand anomalies12.2
8blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome12.2
9blepharophimosis-intellectual disability syndrome, verloes type12.2
10blepharophimosis-intellectual disability syndrome, mkb type12.2
11corpus callosum agenesis of blepharophimosis robin type12.2
12atrioventricular defect-blepharophimosis-radial and anal defect syndrome12.2
13blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome12.2
14blepharophimosis-intellectual disability syndrome due to ube3b deficiency12.2
15kaufman oculocerebrofacial syndrome11.9
16ohdo syndrome11.7
17van den ende-gupta syndrome11.5
18ohdo syndrome, x-linked11.5
19jorgenson lenz syndrome11.4
20say-barber-biesecker variant of ohdo syndrome11.3
21schwartz-jampel syndrome, type 111.2
22krieble bixler syndrome11.2
23marden walker like syndrome11.2
24toriello carey syndrome11.2
25van den ende-gupta sndrome11.2
26ohdo syndrome, maat-kievit-brunner type11.2
27flat face-microstomia-ear anomaly syndrome11.2
28acro-oto-ocular syndrome11.2
293mc syndrome 210.4
303mc syndrome 110.4
31nablus mask-like facial syndrome10.4
32sbbyss syndrome10.4
33marden-walker syndrome10.4
34myhre syndrome10.4
35michels syndrome10.4
36prostate cancer10.2
37leukemia10.2
38prostatitis10.2
39tuberculosis10.2
40thyroiditis10.2
41ptosis, congenital10.2
42popliteal pterygium syndrome 2, lethal type10.2
433mc syndrome10.2
44melanoma10.2
45cerebritis10.2
46colorectal cancer10.1
47malaria10.1
48lung cancer10.1
49asthma10.1
50breast cancer10.1

Graphical network of the top 20 diseases related to Blepharophimosis:



Diseases related to blepharophimosis

Symptoms for Blepharophimosis

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Drugs & Therapeutics for Blepharophimosis

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Blepharophimosis


Cochrane evidence based reviews: blepharophimosis

Genetic Tests for Blepharophimosis

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Anatomical Context for Blepharophimosis

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MalaCards organs/tissues related to Blepharophimosis:

33
Endothelial, Eye, Lung, Breast, Thyroid, Liver, Bone

Animal Models for Blepharophimosis or affiliated genes

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MGI Mouse Phenotypes related to Blepharophimosis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Blepharophimosis

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Articles related to Blepharophimosis:

(show top 50)    (show all 229)
idTitleAuthorsYear
1
Effect of xylitol varnishes on remineralization of artificial enamel caries lesions in situ. (27032722)
2016
2
Effects of polymorphic variation on the mechanism of Endoplasmic Reticulum Aminopeptidase 1. (26224046)
2015
3
Src/STAT3-dependent heme oxygenase-1 induction mediates chemoresistance of breast cancer cells to doxorubicin by promoting autophagy. (26041409)
2015
4
Hematopoietic Akt2 deficiency attenuates the progression of atherosclerosis. (25392271)
2014
5
Madelung's disease mimicking deep vein thrombosis: An unusual case. (24411206)
2013
6
Preliminary study on human papillomavirus frequency and specific type-distribution in vulva cancer from Thai women. (23725140)
2013
7
Randomized, Double-Blind, Placebo-Controlled, Crossover Study of the Effects of Lisdexamfetamine Dimesylate and Mixed Amphetamine Salts on Cognition Throughout the Day in Adults with Attention-Deficit/Hyperactivity Disorder. (24297663)
2013
8
C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis. (22584950)
2012
9
The role of ultrasound biomicroscopy in the diagnosis of temporal arteritis. (23431722)
2012
10
Epigenetic inactivation of BCL6B, a novel functional tumour suppressor for gastric cancer, is associated with poor survival. (21917650)
2012
11
Cigarette smoke extract induces select matrix metalloproteinases and integrin expression in periodontal ligament fibroblasts. (22122519)
2012
12
Mitral valve replacement in a patient with situs inversus and dextrocardia. (21394711)
2011
13
Relative roles of heme-irons and globin-thiols in the genesis of acellular hemoglobin mediated vasoconstriction. (20047515)
2010
14
Bilateral insufficiency fracture of the femoral head and neck in a case of oncogenic osteomalacia. (20595128)
2010
15
Rubosixtaurin and other PKC inhibitors in diabetic retinopathy and macular edema. Review. (19199893)
2009
16
MUTYH exon 7 and 13 mutations associated with colorectal cancer (MAP syndrome) are not commonly associated with sporadic pancreatic cancer. (20110747)
2009
17
BNCT for skin melanoma in extremities: updated Argentine clinical results. (19375342)
2009
18
DeltaNp73alpha inhibits PTEN expression in thyroid cancer cells. (19173293)
2009
19
Yellow Fever virus NS3 plays an essential role in virus assembly independent of its known enzymatic functions. (18199634)
2008
20
Translational control by a small RNA: dendritic BC1 RNA targets the eukaryotic initiation factor 4A helicase mechanism. (18316401)
2008
21
The effects of medications used for the management of diabetes and obesity on postprandial lipid metabolism. (18991602)
2008
22
Endothelin-1 activates ETA receptors to cause reflex scratching in BALB/c mice. (17351652)
2007
23
Impaired control of IRES-mediated translation in X-linked dyskeratosis congenita. (16690864)
2006
24
Localization of a substrate binding domain of the human reduced folate carrier to transmembrane domain 11 by radioaffinity labeling and cysteine-substituted accessibility methods. (16115875)
2005
25
Reciprocal regulation of airway rejection by the inducible gas-forming enzymes heme oxygenase and nitric oxide synthase. (16027238)
2005
26
Thromboembolism after ovarian stimulation: successful management of a woman with superior sagittal sinus thrombosis after IVF and embryo transfer: case report. (14585890)
2003
27
The pathophysiological consequences of somatostatin receptor internalization and resistance. (12588807)
2003
28
Secretory Zn2+-dependent sphingomyelinase activity in the serum of patients with type 2 diabetes is elevated. (12953170)
2003
29
Critical role of both p27KIP1 and p21CIP1/WAF1 in the antiproliferative effect of ZD1839 ('Iressa'), an epidermal growth factor receptor tyrosine kinase inhibitor, in head and neck squamous carcinoma cells. (12599217)
2003
30
Typing of Pseudomonas aeruginosa strains in Turkish cystic fibrosis patients. (12578318)
2003
31
The potential impact of bias in studies of residential exposure to magnetic fields and childhood leukemia. (11170116)
2001
32
A comparison of the muscular relaxation effect of TENS and EMG-biofeedback in patients with bruxism. (11580823)
2001
33
Fetal growth and sex related to placenta praevia. (15512591)
2000
34
Disruption of hsp90 function results in degradation of the death domain kinase, receptor-interacting protein (RIP), and blockage of tumor necrosis factor-induced nuclear factor-kappaB activation. (10744744)
2000
35
Pontine atrophy in spinocerebellar ataxia type 6. (10601803)
2000
36
Relationships between serum leptin level and regional bone mineral density, bone metabolic markers in healthy women. (11130088)
2000
37
The neutralization of type I IFN biologic actions by anti-IFNAR-2 monoclonal antibodies is not entirely due to inhibition of Jak-Stat tyrosine phosphorylation. (11096454)
2000
38
Toward checkmate: biology and breast cancer therapy for the new millennium. (10759407)
1999
39
Cerivastatin in primary hyperlipidemia: a multicenter analysis of efficacy and safety. (9737645)
1998
40
cDNA cloning of p112, the largest regulatory subunit of the human 26s proteasome, and functional analysis of its yeast homologue, sen3p. (8816993)
1996
41
Analysis of naturally processed human histocompatibility leukocyte antigen class I-bound peptides from hepatocellular carcinoma tissues in vivo. (7493916)
1995
42
Transgenic mice overexpressing copper-zinc superoxide dismutase: a model for the study of radical mechanisms and aging]. (8019910)
1993
43
Role of the PU.1 transcription factor in controlling differentiation of Friend erythroleukemia cells. (1620109)
1992
44
Pigmented villonodular synovitis in a vertebra. A case report. (2365726)
1990
45
Molecular cloning of cDNA encoding the Ca2+ release channel (ryanodine receptor) of rabbit cardiac muscle sarcoplasmic reticulum. (2380170)
1990
46
Endolymphatic hydrops after fenestration: a temporal bone study with implications on the function of the utriculo-endolymphatic valve. (2596627)
1989
47
Essential (aneurysmal) periarteritis nodosa with central nervous system involvement. (13613521)
1958
48
Attempts to induce blackwater fever experimentally. (20249286)
1947
49
50

Variations for Blepharophimosis

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Expression for genes affiliated with Blepharophimosis

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Search GEO for disease gene expression data for Blepharophimosis.

Pathways for genes affiliated with Blepharophimosis

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GO Terms for genes affiliated with Blepharophimosis

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Biological processes related to Blepharophimosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cell differentiationGO:00301549.7FOXL2, FOXP2, TWIST1
2negative regulation of transcription, DNA-templatedGO:00458929.3FOXL2, FOXP2, TWIST1
3negative regulation of transcription from RNA polymerase II promoterGO:00001229.2FOXL2, FOXP2, TWIST1
4positive regulation of transcription from RNA polymerase II promoterGO:00459448.9FOXL2, KAT6B, MED12, TWIST1

Sources for Blepharophimosis

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet