MCID: MCR013
MIFTS: 54

Microphthalmia malady

Eye diseases category
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Summaries for Microphthalmia

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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 based summary: Microphthalmia, also known as microphthalmos, is related to coloboma and microphthalmia with cataract 2. An important gene associated with Microphthalmia is MITF (microphthalmia-associated transcription factor), and among its related pathways is Selected targets of Oct 3 4. Affiliated tissues include eye, skin and heart, and related mouse phenotypes are no phenotypic analysis and endocrine/exocrine gland.

Wikipedia:65 Microphthalmia also referred to as microphthalmos, nanophthalmia or nanophthalmos, is a developmental... more...

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

Aliases & Classifications for Microphthalmia

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Microphthalmia, Aliases & Descriptions:

Name: Microphthalmia 8 21 10 44
Microphthalmos 8 21
Simple Microphthalmos 8
 
Nanophthalmos 8
Nanophthalmia 8


Classifications:

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


Related Diseases for Microphthalmia

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

(show top 50)    (show all 363)
idRelated DiseaseScoreTop Affiliating Genes
1coloboma30.9OTX2, VSX2, SOX2
2microphthalmia with cataract 230.8SIX6
3anophthalmia/microphthalmia30.5SOX2, VSX2, RAX, SIX6, OTX2
4anophthalmia plus syndrome30.5SOX2, VSX2, OTX2
5sensorineural hearing loss29.8MITF, SOX2
6lenz microphthalmia syndrome10.6
7melanoma10.6
8microphthalmia syndromic 710.5
9cataract10.5
10retinitis10.4
11microphthalmia with linear skin defects syndrome10.4
12oculofaciocardiodental syndrome10.4
13microcephaly10.4
14microphthalmia syndromic 610.3
15macrosomia with lethal microphthalmia10.3
16sox2-related eye disorders10.3SOX2
17matthew-wood syndrome10.3
18microphthalmia syndromic 810.3
19congenital diaphragmatic hernia10.3STRA6
20microphthalmia syndromic 510.3
21retinitis pigmentosa10.3
22nanophthalmos 410.3
23arhinia choanal atresia microphthalmia10.3
24microphthalmia syndromic 1010.2
25microphthalmia syndromic 310.2
26mental retardation10.2
27sox2 anophthalmia syndrome10.2
28microphthalmia, isolated, with coloboma 710.2
29nanophthalmos 310.2
30vitiligo10.2
31esophageal atresia10.2
32esophagitis10.2
33dextrocardia with unusual facies and microphthalmia10.2
34microphthalmia cataract10.2
35microphthalmia microtia fetal akinesia10.2
36microphthalmia syndromic 410.2
37holoprosencephaly10.2
38osteopetrosis10.2
39anophthalmos with limb anomalies10.2
40cataract, congenital, with microcornea or slight microphthalmia10.2
41microphthalmia, isolated, with corectopia10.2
42isolated microphthalmia 510.2
43isolated microphthalmia10.2
44chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia10.2
45aplasia cutis congenita, reticulolinear, with mmicrocephaly, facial dysmorphism and other congenital anomalies10.2
46microphthalmia - ankyloblepharon - intellectual disability10.2
47microcephaly microphthalmos blindness10.1
48optic disk drusen10.1
49cerebritis10.1
50retinoblastoma10.1

Graphical network of the top 20 diseases related to Microphthalmia:



Diseases related to microphthalmia

Symptoms for Microphthalmia

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Clinical features from OMIM:

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

Drugs & Therapeutics for Microphthalmia

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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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MalaCards organs/tissues related to Microphthalmia:

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

Animal Models for Microphthalmia or affiliated genes

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Publications for Microphthalmia

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Articles related to Microphthalmia:

(show top 50)    (show all 520)
idTitleAuthorsYear
1
The roles of microphthalmia-associated transcription factor and pigmentation in melanoma. (25111671)
2014
2
Microphthalmia with Linear Skin Defects (MLS) associated with Autism Spectrum Disorder (ASD) in a patient with Familial 12.9Mb Terminal Xp deletion. (25182979)
2014
3
Identification of a melanocyte-specific, microphthalmia-associated transcription factor-dependent regulatory element in the intronic duplication causing hair greying and melanoma in horses. (21883983)
2012
4
Sesamin induces melanogenesis by microphthalmia-associated transcription factor and tyrosinase up-regulation via cAMP signaling pathway. (21896570)
2011
5
A deletion in a cis element of Foxe3 causes cataracts and microphthalmia in rct mice. (22002806)
2011
6
MicroRNA-340-mediated degradation of microphthalmia-associated transcription factor mRNA is inhibited by the coding region determinant-binding protein. (20439467)
2010
7
SOX9, through interaction with microphthalmia-associated transcription factor (MITF) and OTX2, regulates BEST1 expression in the retinal pigment epithelium. (20530484)
2010
8
A novel isoform of microphthalmia-associated transcription factor inhibits IL-8 gene expression in human cervical stromal cells. (20573688)
2010
9
Bilateral Microphthalmia with Optic Nerve Hypoplasia and Achiasmia. (20337361)
2010
10
Examination of SOX2 in variable ocular conditions identifies a recurrent deletion in microphthalmia and lack of mutations in other phenotypes. (20454695)
2010
11
Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases. (20494911)
2010
12
Effect of the mutant microphthalmia-associated transcription factor found in Tietz syndrome on the in vitro development of mast cells. (20485200)
2010
13
A role of the microphthalmia-associated transcription factor in congenital sensorineural deafness and eye pigmentation in Dalmatian dogs. (19207931)
2009
14
Microphthalmia and microcornea: in congenital cytomegalovirus. (19574708)
2009
15
Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia. (19921648)
2009
16
MicroRNA-137 targets microphthalmia-associated transcription factor in melanoma cell lines. (18316599)
2008
17
Epistatic connections between microphthalmia-associated transcription factor and endothelin signaling in Waardenburg syndrome and other pigmentary disorders. (18039926)
2008
18
Holoprosencephaly spectrum, ano/microphthalmia, and first branchial arch defects: evidence for a new disorder. (18049080)
2008
19
Construction of protein chip to detect binding of Mitf protein (microphthalmia transcription factor) and E-box DNA. (18427742)
2008
20
Microphthalmia, persistent hyperplastic hyaloid vasculature and lens anomalies following overexpression of VEGF-A188 from the alphaA-crystallin promoter. (17277743)
2007
21
Mutational analysis of the human MBX gene in four Korean families demonstrating microphthalmia with congenital cataract. (17990594)
2007
22
Microphthalmia-associated transcription factor gene amplification in metastatic melanoma is a prognostic marker for patient survival, but not a predictive marker for chemosensitivity and chemotherapy response. (17975146)
2007
23
Microencephaly and microphthalmia in rat fetuses by busulfan. (17290349)
2007
24
CRYBA4, a novel human cataract gene, is also involved in microphthalmia. (16960806)
2006
25
Suppression of progressive loss of coat color in microphthalmia-vitiligo mutant mice. (16117796)
2005
26
The cleavage of microphthalmia-associated transcription factor, MITF, by caspases plays an essential role in melanocyte and melanoma cell apoptosis. (16140982)
2005
27
Split hand malformation, hypospadias, microphthalmia, distinctive face and short stature in two brothers suggest a new syndrome. (15809993)
2005
28
Giant cell tumors: inquiry into immunohistochemical expression of CD117 (c-Kit), microphthalmia transcription factor, tartrate-resistant acid phosphatase, and HAM-56. (15737031)
2005
29
A population-based case-control study of isolated anophthalmia and microphthalmia. (16284872)
2005
30
Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome. (15770227)
2005
31
Microphthalmia-associated transcription factor and tyrosinase as markers of melanoma cells in blood of patients with melanoma. (15103749)
2004
32
Absence of deletion at the SOX2 locus in a case of microphthalmia and esophageal atresia. (15487011)
2004
33
The novel mouse microphthalmia mutations Mitfmi-enu5 and Mitfmi-bcc2 produce dominant negative Mitf proteins. (15081122)
2004
34
Microphthalmia transcription factor: a specific marker for malignant melanoma. (15782558)
2004
35
Bilateral microphthalmia with cyst, facial clefts, and limb anomalies: a new syndrome with features of Waardenburg syndrome, cerebro-oculo-nasal syndrome, and craniotelencephalic dysplasia. (12548743)
2003
36
Inhibitory effect on natural killer activity of microphthalmia transcription factor encoded by the mutant mi allele of mice. (11264174)
2001
37
Analysis of microphthalmia transcription factor expression in normal tissues and tumors, and comparison of its expression with S-100 protein, gp100, and tyrosinase in desmoplastic malignant melanoma. (11176068)
2001
38
Inhibitory effect of the transcription factor encoded by the mutant mi microphthalmia allele on transactivation of mouse mast cell protease 7 gene. (11157480)
2001
39
Microphthalmia due to p53-mediated apoptosis of anterior lens epithelial cells in mice lacking the CREB-2 transcription factor. (10885750)
2000
40
TFEC is a macrophage-restricted member of the microphthalmia-TFE subfamily of basic helix-loop-helix leucine zipper transcription factors. (9973413)
1999
41
Expression of genes for microphthalmia isoforms, Pax3 and MSG1, in human melanomas. (10644012)
1999
42
Molecular cloning of cDNA encoding a novel microphthalmia-associated transcription factor isoform with a distinct amino-terminus. (10578055)
1999
43
In B16 melanoma cells, the inhibition of melanogenesis by TPA results from PKC activation and diminution of microphthalmia binding to the M-box of the tyrosinase promoter. (9582014)
1998
44
Mutations in microphthalmia, the mouse homolog of the human deafness gene MITF, affect neuroepithelial and neural crest-derived melanocytes differently. (9510032)
1998
45
Targeting the microphthalmia basic helix-loop-helix-leucine zipper transcription factor to a subset of E-box elements in vitro and in vivo. (9819381)
1998
46
Conotruncal heart defect/microphthalmia syndrome: delineation of an autosomal recessive syndrome. (9391888)
1997
47
Colobomatous microphthalmia with midfacial clefting: part of the spectrum of branchio-oculo-facial syndrome? (8832722)
1996
48
New lethal syndrome of fetal akinesia with characteristic facial appearance, severe microphthalmia, microtia, and truncus arteriosus in two male sibs. (8484406)
1993
49
Anophthalmia/Microphthalmia Overview (20301552)
1993
50
Inheritance of microphthalmia with coloboma in the Australian shepherd dog. (7325429)
1981

Variations for Microphthalmia

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Expression for genes affiliated with Microphthalmia

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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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Pathways related to Microphthalmia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8OTX2, SOX2

Compounds for genes affiliated with Microphthalmia

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GO Terms for genes affiliated with Microphthalmia

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Cellular components related to Microphthalmia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein complexGO:0432349.5OTX2, MITF, STRA6

Biological processes related to Microphthalmia according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1diencephalon morphogenesisGO:04885210.0OTX2, SOX2
2camera-type eye developmentGO:0430109.9MITF, RAX
3primitive streak formationGO:0900099.9OTX2, GDF3
4somite rostral/caudal axis specificationGO:0325259.9GDF3, OTX2
5limb developmentGO:0601739.9RAX, SMOC1
6cell fate commitmentGO:0451659.9VSX2, MITF
7lung alveolus developmentGO:0482869.8STRA6, SOX2
8endoderm developmentGO:0074929.8GDF3, OTX2
9visual perceptionGO:0076019.8SIX6, RAX, VSX2
10inner ear morphogenesisGO:0424729.8OTX2, SOX2
11forebrain developmentGO:0309009.5OTX2, SOX2
12positive regulation of transcription from RNA polymerase II promoterGO:0459449.3OTX2, VSX2, MITF, SOX2
13eye developmentGO:0016549.3SOX2, SMOC1, GDF3

Molecular functions related to Microphthalmia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcriptionGO:0010779.2SOX2, MITF, OTX2
2sequence-specific DNA binding transcription factor activityGO:0037009.2SIX6, RAX, VSX2, SOX2
3sequence-specific DNA bindingGO:0435658.8OTX2, SIX6, RAX, VSX2, SOX2

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet