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:

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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:000539111.0MFRP, SOX2, SMOC1, OTX2, SIX6, RAX
2MP:000363111.0RAX, SOX2, MFRP, STRA6, MIR96, MITF
3MP:000118610.8MITF, SMOC1, OTX2, VSX2, MFRP, SOX2
4MP:000537810.8HCCS, MITF, MIR96, GDF6, GDF3, RAX
5MP:000538210.7SMOC1, RAX, GDF6, MITF, SOX2, OTX2
6MP:000537710.4MIR96, MITF, OTX2, GDF6, SOX2

Publications for Microphthalmia

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50PubMed
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Articles related to Microphthalmia:

(show top 50)    (show all 505)
idTitleAuthorsYear
1
The Multifunctional Protein Fused in Sarcoma (FUS) Is a Coactivator of Microphthalmia-associated Transcription Factor (MITF). (24257758)
2014
2
The use of self-inflating hydrogel expanders in pediatric patients with congenital microphthalmia in China. (23084385)
2012
3
Digital evaluation of orbital development in chinese children with congenital microphthalmia. (22633356)
2012
4
Microphthalmia-associated transcription factor (MITF) promotes differentiation of human retinal pigment epithelium (RPE) by regulating microRNAs-204/211 expression. (22523078)
2012
5
Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease. (23122588)
2012
6
Overexpression of the progestagen-associated endometrial protein gene is associated with microphthalmia-associated transcription factor in human melanoma. (21960753)
2011
7
Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalmia in humans and mice. (21532570)
2011
8
Microphthalmia and anophthalmia in Chuuk State, Federated States of Micronesia. (20968247)
2010
9
Heparan sulfate deficiency in periocular mesenchyme causes microphthalmia and ciliary body dysgenesis. (19782070)
2010
10
Zeolite 4A, a synthetic silicate, suppresses melanogenesis through the degradation of microphthalmia-associated transcription factor by extracellular signal-regulated kinase activation in B16F10 melanoma cells. (20045939)
2010
11
The discovery of the microphthalmia locus and its gene, Mitf. (20807369)
2010
12
Microphthalmia and microcornea: in congenital cytomegalovirus. (19574708)
2009
13
Defective co-activator recruitment in osteoclasts from microphthalmia-oak ridge mutant mice. (19288495)
2009
14
Maternal administration of anti-angiogenic agents, TNP-470 and Angiostatin4.5, induces fetal microphthalmia. (19572040)
2009
15
Identification of microphthalmia-associated transcription factor isoforms in dogs. (18701327)
2009
16
Holoprosencephaly spectrum, ano/microphthalmia, and first branchial arch defects: evidence for a new disorder. (18049080)
2008
17
Brn-2 represses microphthalmia-associated transcription factor expression and marks a distinct subpopulation of microphthalmia-associated transcription factor-negative melanoma cells. (18829533)
2008
18
Identification of STRA6 and SKI sequence variants in patients with anophthalmia/microphthalmia. (19112531)
2008
19
Microphthalmia, persistent hyperplastic hyaloid vasculature and lens anomalies following overexpression of VEGF-A188 from the alphaA-crystallin promoter. (17277743)
2007
20
Mechanisms for persistent microphthalmia following ethanol exposure during retinal neurogenesis in zebrafish embryos. (17640445)
2007
21
The cleavage of microphthalmia-associated transcription factor, MITF, by caspases plays an essential role in melanocyte and melanoma cell apoptosis. (16140982)
2005
22
The epidemiology of anophthalmia and microphthalmia in Sweden. (15971507)
2005
23
Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization of 11 cases. (16059943)
2005
24
Epidemiologic characteristics of anophthalmia and bilateral microphthalmia among 2.5 million births in California, 1989-1997. (16007635)
2005
25
The novel mouse microphthalmia mutations Mitfmi-enu5 and Mitfmi-bcc2 produce dominant negative Mitf proteins. (15081122)
2004
26
Immunohistochemical evaluation of microphthalmia-associated transcription factor expression in giant cell lesions. (15205688)
2004
27
Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR. (15004558)
2004
28
Microphthalmia in Texel lambs. (16032324)
2003
29
Pyogenic granuloma of the cornea in an infant with unilateral microphthalmia. (12912702)
2003
30
All-trans retinoic acid induces differentiation and apoptosis of murine melanocyte precursors with induction of the microphthalmia-associated transcription factor. (11851873)
2002
31
Melanocyte-specific microphthalmia-associated transcription factor isoform activates its own gene promoter through physical interaction with lymphoid-enhancing factor 1. (12048204)
2002
32
The gene encoding the T-box factor Tbx2 is a target for the microphthalmia-associated transcription factor in melanocytes. (10770922)
2000
33
True hermaphroditism associated with microphthalmia. (10037254)
1999
34
Implications of isoform multiplicity of microphthalmia-associated transcription factor in the pathogenesis of auditory-pigmentary syndromes. (10536982)
1999
35
Suppression of microphthalmia transcriptional activity by its association with protein kinase C-interacting protein 1 in mast cells. (10567402)
1999
36
Involvement of microphthalmia in the inhibition of melanocyte lineage differentiation and of melanogenesis by agouti signal protein. (9677380)
1998
37
The rat microphthalmia-associated transcription factor gene (Mitf) maps at 4q34-q41 and is mutated in the mib rats. (9680380)
1998
38
Conotruncal heart defect/microphthalmia syndrome: delineation of an autosomal recessive syndrome. (9391888)
1997
39
Anophthalmia-microphthalmia-oblique clefting syndrome: confirmation of the Fryns anophthalmia syndrome. (9375920)
1997
40
Microphthalmia, marked short stature, hearing loss, and developmental delay: extension of the phenotype of GOMBO syndrome? (9295068)
1997
41
The recessive phenotype displayed by a dominant negative microphthalmia-associated transcription factor mutant is a result of impaired nucleation potential. (8622664)
1996
42
Syndromal hypothalamic hamartoblastoma with holoprosencephaly sequence, microphthalmia, pulmonary malformations, radial hypoplasia and mA1llerian regression: further delineation of a new syndrome? (7735503)
1995
43
Microphthalmia and distal limb abnormalities in a child of consanguineous parents. (7981863)
1994
44
MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea): an X-linked phenotype distinct from Goltz syndrome. (8267001)
1993
45
Microphthalmia with Linear Skin Defects Syndrome (20301767)
1993
46
The vit gene maps to the mi (microphthalmia) locus of the laboratory mouse. (1460250)
1992
47
Autosomal dominant congenital cataract and microphthalmia associated with a familial t(2;16) translocation. (1427774)
1992
48
A case of Dandy-Walker malformation associated with occipital meningocele, microphthalmia, and cleft palate. (2251011)
1990
49
X-linked microphthalmia syndrome. (2248302)
1990
50
The Lenz microphthalmia syndrome. (3276203)
1988

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