MCID: MCR013
MIFTS: 53

Microphthalmia malady

Eye diseases category

Summaries for Microphthalmia

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21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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Genetics Home Reference:21 Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.

MalaCards: Microphthalmia, also known as microphthalmos, is related to coloboma and anophthalmia/microphthalmia. An important gene associated with Microphthalmia is MITF (microphthalmia-associated transcription factor). Affiliated tissues include eye, skin and heart, and related mouse phenotypes are vision/eye and nervous system.

Wikipedia:63 Microphthalmia also referred to as microphthalmos, nanophthalmia or nanophthalmos, is a developmental... more...

Description from OMIM:46 601186, 309801, 607932, 613704, 610093 610125, 611040, 206900, 300166, 613094, 611038 more

Aliases & Classifications for Microphthalmia

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Sources:
8Disease Ontology, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 46OMIM, 60UMLS, 56SNOMED-CT, 34MeSH, 27ICD9CM, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Eye diseases


Aliases & Descriptions:

microphthalmia 8 21 10 44
microphthalmos 8 21
simple microphthalmos 8
nanophthalmos 8
nanophthalmia 8


Related Diseases for Microphthalmia

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17GeneCards, 18GeneDecks
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Diseases related to Microphthalmia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 325)
idRelated DiseaseScoreTop Affiliating Genes
1coloboma30.7VSX2, GDF6, SOX2, OTX2
2anophthalmia/microphthalmia30.6OTX2, RAX, SIX6, VSX2, SOX2
3anophthalmia plus syndrome30.1SOX2, VSX2, OTX2
4microphthalmia with coloboma 629.8GDF3
5sensorineural hearing loss29.7MITF, SOX2
6lenz microphthalmia syndrome10.6
7melanoma10.6
8microphthalmia syndromic 710.5
9cataract10.5
10microphthalmia with linear skin defects syndrome10.5
11matthew-wood syndrome10.4
12retinitis10.4
13microcephaly10.3
14oculofaciocardiodental syndrome10.3
15microphthalmia syndromic 610.3
16macrosomia with lethal microphthalmia10.3
17microphthalmia syndromic 810.3
18microphthalmia syndromic 510.2
19arhinia choanal atresia microphthalmia10.2
20microphthalmia syndromic 1010.2
21sox2 anophthalmia syndrome10.2
22microphthalmia, isolated 210.2
23nanophthalmos 310.2
24esophageal atresia10.1
25vitiligo10.1
26esophagitis10.1
27dextrocardia with unusual facies and microphthalmia10.1
28microphthalmia microtia fetal akinesia10.1
29microphthalmia syndromic 410.1
30isolated microphthalmia 510.1
31microphthalmia with cataract 210.1
32microphthalmia - ankyloblepharon - intellectual deficit10.1
33osteopetrosis10.1
34holoprosencephaly10.1
35microphthalmia syndromic 310.1
36anophthalmos with limb anomalies10.1
37cataract, congenital, with microcornea or slight microphthalmia10.1
38microphthalmia cataract10.1
39microphthalmia, isolated, with corectopia10.1
40microcephaly microphthalmos blindness10.1
41cerebritis10.1
42cleft palate10.1
43orbital cyst10.1
44retinoblastoma10.1
45tachycardia hypertension microphthalmia and hyperglycinuria10.1
46cataract, microphthalmia and nystagmus10.1
47chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia10.1
48aplasia cutis congenita, reticulolinear, with mmicrocephaly, facial dysmorphism and other congenital anomalies10.1
49arrhinia - choanal atresia - microphthalmia10.1
50ocular albinism10.0

Graphical network of the top 20 diseases related to Microphthalmia:



Diseases related to microphthalmia

Clinical Features for Microphthalmia

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46OMIM
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Clinical features from OMIM:

601186, 309801, 607932, 613704, 610093, 610125, 611040, 206900, 300166, 613094 611038 more

Drugs & Therapeutics for Microphthalmia

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Microphthalmia

Search NIH Clinical Center for Microphthalmia

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Genetic Tests for Microphthalmia

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Anatomical Context for Microphthalmia

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32MalaCards
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MalaCards organs/tissues related to Microphthalmia:

32
Eye, Skin, Heart, Bone, Myeloid, Retina, B cells, Testis, Kidney, Brain, Lymph node, Pineal

Animal Models for Microphthalmia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Microphthalmia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000539111.0SMOC1, SOX2, MFRP, STRA6, MITF, GDF6
2MP:000363111.0SOX2, MFRP, STRA6, MIR96, MITF, GDF6
3MP:000118610.8SOX2, MFRP, MITF, VSX2, OTX2, SMOC1
4MP:000537810.8MIR96, HCCS, STRA6, SOX2, MITF, GDF6
5MP:000538210.7SMOC1, OTX2, RAX, GDF6, MITF, SOX2
6MP:000537710.4SOX2, MIR96, MITF, GDF6, OTX2

Publications for Microphthalmia

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50PubMed
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Articles related to Microphthalmia:

(show top 50)    (show all 505)
idTitleAuthorsYear
1
Lens specific RLIP76 transgenic mice show a phenotype similar to microphthalmia. (24188744)
2014
2
Posterior microphthalmia and nanophthalmia in Tunisia caused by a founder c.1059_1066insC mutation of the PRSS56 gene. (23820083)
2013
3
HSP90 inhibitors enhance differentiation and MITF (microphthalmia transcription factor) activity in osteoclast progenitors. (23379601)
2013
4
An epidemiological investigation of a Forkhead box protein E3 founder mutation underlying the high frequency of sclerocornea, aphakia, and microphthalmia in a Mexican village. (24019743)
2013
5
VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: The first description of a VAX1 phenotype in humans. (22095910)
2012
6
Microphthalmia-associated transcription factor acts through PEDF to regulate RPE cell migration. (22115973)
2012
7
Bilateral microphthalmia and aphakia associated with multiple eye abnormalities in a free-living European red deer calf (Cervus elaphus). (22134109)
2012
8
Sesamin induces melanogenesis by microphthalmia-associated transcription factor and tyrosinase up-regulation via cAMP signaling pathway. (21896570)
2011
9
Congenital anophthalmia and microphthalmia: epidemiology and orbitofacial rehabilitation. (22267908)
2011
10
Hydranencephaly associated with cerebellar involvement and bilateral microphthalmia and colobomas. (20577730)
2011
11
Dense cataract and microphthalmia (dcm) in BALB/c mice is caused by mutations in the GJA8 locus. (20861565)
2010
12
VSX2 in microphthalmia: a novel splice site mutation producing a severe microphthalmia phenotype. (20215382)
2010
13
Microphthalmia, parkinsonism, and enhanced nociception in Pitx3 ( 416insG ) mice. (20033184)
2010
14
A role of the microphthalmia-associated transcription factor in congenital sensorineural deafness and eye pigmentation in Dalmatian dogs. (19207931)
2009
15
Clinical and genetic features of a dominantly-inherited microphthalmia pedigree from China. (19452014)
2009
16
Sequence alterations in RX in patients with microphthalmia, anophthalmia, and coloboma. (19158959)
2009
17
MITF-CM, a newly identified isoform of microphthalmia-associated transcription factor, is expressed in cultured mast cells. (18284417)
2009
18
MicroRNA-137 targets microphthalmia-associated transcription factor in melanoma cell lines. (18316599)
2008
19
Common MFRP sequence variants are not associated with moderate to high hyperopia, isolated microphthalmia, and high myopia. (18334955)
2008
20
Microencephaly and microphthalmia in rat fetuses by busulfan. (17290349)
2007
21
Left-sided Duane's syndrome and retinal coloboma associated with contralateral microphthalmia. (17564942)
2007
22
Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia. (17406642)
2007
23
Anophthalmia and microphthalmia. (18039390)
2007
24
The microphthalmia-associated transcription factor Mitf interacts with beta-catenin to determine target gene expression. (17000761)
2006
25
Characterization of an ERK-binding domain in microphthalmia-associated transcription factor and differential inhibition of ERK2-mediated substrate phosphorylation. (16246839)
2005
26
Microphthalmia transcription factor: a specific marker for malignant melanoma. (15782558)
2004
27
Repression of the melanocyte-specific promoter of the microphthalmia-associated transcription factor by the adenoviral E1A 12S oncoprotein. (15581068)
2004
28
Melanocytes and the microphthalmia transcription factor network. (15568981)
2004
29
Transcriptional activation of mouse mast cell protease-9 by microphthalmia-associated transcription factor. (14575687)
2003
30
Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia. (12503095)
2003
31
Microphthalmia-associated transcription factor in the Wnt signaling pathway. (12753399)
2003
32
Microphthalmia with linear skin defects (MLS), Aicardi, and Goltz syndromes: are they related X-linked dominant male-lethal disorders? (12900577)
2002
33
Microphthalmia-associated transcription factor interacts with LEF-1, a mediator of Wnt signaling. (12032083)
2002
34
Regulation of receptor activator of NF-kappaB ligand-induced tartrate-resistant acid phosphatase gene expression by PU.1-interacting protein/interferon regulatory factor-4. Synergism with microphthalmia transcription factor. (11425859)
2001
35
Microphthalmia transcription factor in the immunohistochemical diagnosis of metastatic melanoma: comparison with four other melanoma markers. (11176069)
2001
36
Microphthalmia due to p53-mediated apoptosis of anterior lens epithelial cells in mice lacking the CREB-2 transcription factor. (10885750)
2000
37
Primitive neuroectodermal tumor of the orbit in a 5-year-old girl with microphthalmia. (11045350)
2000
38
Microphthalmia and loss of coat pigmentation from transgenic expression of a neurogenic factor in pigment cell precursors (10951260)
2000
39
Genomic, transcriptional and mutational analysis of the mouse microphthalmia locus. (10790403)
2000
40
Microcephaly, microphthalmia, congenital cataract, with calcification of the basal ganglia: MCA/MR syndrome. (11140418)
2000
41
Microphthalmia: a signal responsive transcriptional regulator in development. (11041373)
2000
42
Role of microphthalmia transcription factor in regulation of melanocyte differentiation marker TRP-1. (10080955)
1999
43
Clustering of anophthalmia and microphthalmia. No clustering has been found-but a link seems to exist with population density. (9756797)
1998
44
Compiling a national register of babies born with anophthalmia/microphthalmia in England 1988-94. (10194985)
1998
45
Growth regulatory proteins that repress differentiation markers in melanocytes also downregulate the transcription factor microphthalmia. (8752668)
1996
46
Manifestations of microphthalmia. (7874158)
1994
47
Dextrocardia, microphthalmia, cleft palate, choreoathetosis, and mental retardation in an infant born to consanguineous parents. (1609828)
1992
48
Retinoblastoma, microphthalmia, coloboma, and neuroepithelioma of the pineal body. (1416626)
1992
49
Microphthalmia and chorioretinal lesions in a girl with an Xp22.2-pter deletion and partial 3p trisomy: clinical observations relevant to Aicardi syndrome gene localization. (2248284)
1990
50
Persistent hyperplastic primary vitreous and microphthalmia in a dog. (7275755)
1981

Genetic Variations for Microphthalmia

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Expression for genes affiliated with Microphthalmia

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Microphthalmia

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Pathways for genes affiliated with Microphthalmia

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Compounds for genes affiliated with Microphthalmia

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GO Terms for genes affiliated with Microphthalmia

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16Gene Ontology
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Cellular components related to Microphthalmia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein complexGO:04323410.6OTX2, MITF, STRA6

Biological processes related to Microphthalmia according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1eye developmentGO:00165410.8SMOC1, GDF3, SOX2
2diencephalon morphogenesisGO:04885210.8OTX2, SOX2
3primitive streak formationGO:09000910.8GDF3, OTX2
4somite rostral/caudal axis specificationGO:03252510.7GDF3, OTX2
5limb developmentGO:06017310.7SMOC1, RAX
6endoderm developmentGO:00749210.7OTX2, GDF3
7growthGO:04000710.6GDF6, GDF3
8camera-type eye developmentGO:04301010.6RAX, MITF
9lung alveolus developmentGO:04828610.6STRA6, SOX2
10visual perceptionGO:00760110.5RAX, SIX6, VSX2
11positive regulation of transcription, DNA-dependentGO:04589310.4SOX2, MITF, GDF6, OTX2

Molecular functions related to Microphthalmia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA binding transcription factor activityGO:00370010.7OTX2, RAX, SIX6, VSX2, SOX2
2sequence-specific DNA bindingGO:04356510.6OTX2, RAX, SIX6, VSX2, SOX2
3RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positiveGO:00107710.3SOX2, MITF, OTX2

Products for genes affiliated with Microphthalmia

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Sources for Microphthalmia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet