MCID: MCR013
MIFTS: 53

Microphthalmia malady

Eye category

Summaries for Microphthalmia

Sources:
21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
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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 anophthalmia/microphthalmia and coloboma. An important gene associated with Microphthalmia is MITF (microphthalmia-associated transcription factor). Affiliated tissues include skin, brain and kidney, and related mouse phenotypes are vision/eye and nervous system.

Wikipedia:64 Microphthalmia also referred to as microphthalmos, nanophthalmia or nanophthalmos, is a developmental... more...

Description from OMIM:47 601186, 309801, 607932, 613704, 610093 610125, 611040, 206900, 300166, 613094, 611038 more

Aliases & Classifications for Microphthalmia

Sources:
8Disease Ontology, 21Genetics Home Reference, 10DISEASES, 45Novoseek, 47OMIM, 61UMLS, 57SNOMED-CT, 35MeSH, 27ICD9CM, 25ICD10
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Classifications:

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


Aliases & Descriptions:

microphthalmia 8 21 10 45
microphthalmos 8 21
simple microphthalmos 8
nanophthalmos 8
nanophthalmia 8


Related Diseases for Microphthalmia

Sources:
17GeneCards, 18GeneDecks
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Diseases in the microphthalmia with limb anomalies family:

microphthalmia microphthalmia with linear skin defects syndrome
microphthalmia with coloboma 5 microphthalmia with coloboma 6, digenic
microphthalmia with coloboma 6 microphthalmia with cataract 2
microphthalmia with coloboma 3 microphthalmia with coloboma 2
microphthalmia with cataract 1 microphthalmia with coloboma 1

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

(show top 50)    (show all 331)
idRelated DiseaseScoreTop Affiliating Genes
1anophthalmia/microphthalmia30.9SOX2, VSX2, SIX6, RAX, OTX2
2coloboma30.8OTX2, VSX2, GDF6, SOX2
3anophthalmia plus syndrome30.2OTX2, VSX2, SOX2
4microphthalmia with coloboma 629.9GDF3
5sensorineural hearing loss29.7MITF, SOX2
6micro syndrome10.7
7lenz microphthalmia syndrome10.6
8microphthalmia cataract10.5
9microphthalmia syndromic 710.5
10matthew-wood syndrome10.4
11oculofaciocardiodental syndrome10.4
12isolated microphthalmia10.3
13microcephaly10.3
14n syndrome10.3
15microphthalmia syndromic 610.3
16cataract, congenital10.3
17macrosomia with lethal microphthalmia10.3
18microphthalmia syndromic 810.3
19microphthalmia syndromic 510.2
20arhinia choanal atresia microphthalmia10.2
21sox2 anophthalmia syndrome10.2
22waardenburg's syndrome10.2
23microphthalmia microtia fetal akinesia10.2
24microphthalmia syndromic 1010.2
25mental retardation10.2
26microphthalmia, isolated 210.2
27nanophthalmos 310.2
28esophageal atresia10.2
29vitiligo10.2
30dextrocardia with unusual facies and microphthalmia10.2
31microphthalmia syndromic 410.2
32isolated microphthalmia 510.2
33microphthalmia with cataract 210.2
34microphthalmia - ankyloblepharon - intellectual deficit10.2
35osteopetrosis10.1
36holoprosencephaly10.1
37microphthalmia syndromic 310.1
38cataract, congenital, with microcornea or slight microphthalmia10.1
39microphthalmia, isolated, with corectopia10.1
40microcephaly microphthalmos blindness10.1
41cleft palate10.1
42microphthalmia with linear skin defects syndrome10.1
43short syndrome10.1
44tachycardia hypertension microphthalmia and hyperglycinuria10.1
45cataract microphthalmia septal defect10.1
46cataract, microphthalmia and nystagmus10.1
47microphthalmia mental deficiency10.1
48short stature10.1
49microphthalmia with limb anomalies10.1
50chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia10.1

Graphical network of the top 20 diseases related to Microphthalmia:



Diseases related to microphthalmia

Clinical Features for Microphthalmia

Sources:
47OMIM
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Clinical features from OMIM:

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

Drugs & Therapeutics for Microphthalmia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Microphthalmia

Drug clinical trials:

Search ClinicalTrials for Microphthalmia

Search NIH Clinical Center for Microphthalmia

Search CenterWatch for Microphthalmia

Genetic Tests for Microphthalmia

Anatomical Context for Microphthalmia

Sources:
33MalaCards
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MalaCards organs/tissues related to Microphthalmia:

33
Skin, Brain, Kidney, Lymph node, Whole blood, Retina, Heart, Testis, Myeloid, T cells, B cells, Fetal brain, Occipital lobe, Ciliary ganglion, Cardiac myocytes, Pineal, Testis germ

Animal Models for Microphthalmia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Microphthalmia

Sources:
51PubMed
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Articles related to Microphthalmia:

(show top 50)    (show all 508)
idTitleAuthorsYear
1
A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome. (24431331)
2014
2
Lens specific RLIP76 transgenic mice show a phenotype similar to microphthalmia. (24188744)
2014
3
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
4
Cataracts and microphthalmia caused by a Gja8 mutation in extracellular loop 2. (23300808)
2012
5
Microphthalmia-associated transcription factor acts through PEDF to regulate RPE cell migration. (22115973)
2012
6
Bilateral microphthalmia and aphakia associated with multiple eye abnormalities in a free-living European red deer calf (Cervus elaphus). (22134109)
2012
7
First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: A new dimension to the STRA6 phenotype. (21901792)
2011
8
Hydranencephaly associated with cerebellar involvement and bilateral microphthalmia and colobomas. (20577730)
2011
9
SOX9, through interaction with microphthalmia-associated transcription factor (MITF) and OTX2, regulates BEST1 expression in the retinal pigment epithelium. (20530484)
2010
10
Bilateral Microphthalmia with Optic Nerve Hypoplasia and Achiasmia. (20337361)
2010
11
Effect of the mutant microphthalmia-associated transcription factor found in Tietz syndrome on the in vitro development of mast cells. (20485200)
2010
12
Rapid frozen section immunostaining of melanocytes by microphthalmia-associated transcription factor. (20514666)
2010
13
Microphthalmia in Texel sheep is associated with a missense mutation in the paired-like homeodomain 3 (PITX3) gene. (20084168)
2010
14
Microphthalmia, parkinsonism, and enhanced nociception in Pitx3 ( 416insG ) mice. (20033184)
2010
15
BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects. (19367324)
2009
16
Clinical and genetic features of a dominantly-inherited microphthalmia pedigree from China. (19452014)
2009
17
Sequence alterations in RX in patients with microphthalmia, anophthalmia, and coloboma. (19158959)
2009
18
MITF-CM, a newly identified isoform of microphthalmia-associated transcription factor, is expressed in cultured mast cells. (18284417)
2009
19
Epistatic connections between microphthalmia-associated transcription factor and endothelin signaling in Waardenburg syndrome and other pigmentary disorders. (18039926)
2008
20
Altered expression of the iron transporter Nramp1 (Slc11a1) during fetal development of the retinal pigment epithelium in microphthalmia-associated transcription factor Mitf(mi) and Mitf(vitiligo) mouse mutants. (18191835)
2008
21
Microphthalmia and lack of vitreous body in transgenic mice expressing the first immunoglobulin-like domain of nectin-1. (18204934)
2008
22
Microphthalmia-associated transcription factor is a critical transcriptional regulator of melanoma inhibitor of apoptosis in melanomas. (18451137)
2008
23
Common MFRP sequence variants are not associated with moderate to high hyperopia, isolated microphthalmia, and high myopia. (18334955)
2008
24
Ano/microphthalmia, ocular cysts, central nervous system malformations, and neuropsychological delay. Diagnostic considerations on 2 Brazilian patients. (19668508)
2007
25
Role of microphthalmia transcription factor (Mitf) in melanoma differentiation. (17266927)
2007
26
Mutations in the CHX10 gene in non-syndromic microphthalmia/anophthalmia patients from Qatar. (17661825)
2007
27
Bosma arhinia microphthalmia syndrome. (16353241)
2006
28
Suppression of progressive loss of coat color in microphthalmia-vitiligo mutant mice. (16117796)
2005
29
Giant cell tumors: inquiry into immunohistochemical expression of CD117 (c-Kit), microphthalmia transcription factor, tartrate-resistant acid phosphatase, and HAM-56. (15737031)
2005
30
X-linked dominant chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia. (16001442)
2005
31
Characterization of an ERK-binding domain in microphthalmia-associated transcription factor and differential inhibition of ERK2-mediated substrate phosphorylation. (16246839)
2005
32
Pulmonary agenesis/hypoplasia, microphthalmia, and diaphragmatic defects: report of an additional case. (15127767)
2004
33
Melanocytes and the microphthalmia transcription factor network. (15568981)
2004
34
Lenz microphthalmia syndrome with dental anomalies: a case report. (14998213)
2003
35
Transcriptional activation of mouse mast cell protease-9 by microphthalmia-associated transcription factor. (14575687)
2003
36
Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia. (12503095)
2003
37
Microphthalmia-associated transcription factor in the Wnt signaling pathway. (12753399)
2003
38
Role for microphthalmia transcription factor in the diagnosis of metastatic malignant melanoma. (11893035)
2002
39
Microphthalmia transcription factor expression in cutaneous mast cell disease. (12140449)
2002
40
Microphthalmia transcription factor in the immunohistochemical diagnosis of metastatic melanoma: comparison with four other melanoma markers. (11176069)
2001
41
Regulation of the microphthalmia-associated transcription factor gene by the Waardenburg syndrome type 4 gene, SOX10. (10938265)
2000
42
Lenz microphthalmia syndrome: three additional cases with rare associated anomalies. (10893665)
2000
43
Microphthalmia: a signal responsive transcriptional regulator in development. (11041373)
2000
44
Transient overexpression of the Microphthalmia gene in the eyes of Microphthalmia vitiligo mutant mice. (9825864)
1998
45
Clustering of anophthalmia and microphthalmia. No clustering has been found-but a link seems to exist with population density. (9756797)
1998
46
Compiling a national register of babies born with anophthalmia/microphthalmia in England 1988-94. (10194985)
1998
47
Bilateral microphthalmia, esophageal atresia, and cryptorchidism: the anophthalmia-esophageal-genital syndrome. (9128938)
1997
48
Growth regulatory proteins that repress differentiation markers in melanocytes also downregulate the transcription factor microphthalmia. (8752668)
1996
49
Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene. (7874167)
1994
50
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

Genetic Variations for Microphthalmia

Expression for genes affiliated with Microphthalmia

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

Search GEO for disease gene expression data for Microphthalmia.

Pathways for genes affiliated with Microphthalmia

Compounds for genes affiliated with Microphthalmia

GO Terms for genes affiliated with Microphthalmia

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

Products for genes affiliated with Microphthalmia

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Sources for Microphthalmia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet