MCID: MCR013
MIFTS: 52

Microphthalmia malady

Eye diseases, Fetal diseases, Rare diseases categories

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 microphthalmia, syndromic 1 and microphthalmia with cataract 2, and has symptoms including strabismus, glaucoma and hypermetropia. An important gene associated with Microphthalmia is MFRP (membrane frizzled-related protein). Affiliated tissues include eye, skin and heart, and related mouse phenotypes are pigmentation and hearing/vestibular/ear.

Disease Ontology:9 An eye disease where one or both eyeballs are abnormally small.

Wikipedia:63 Microphthalmia micros = small; ophthalmos = eye), also referred to as microphthalmos, nanophthalmia or... more...

Aliases & Classifications for Microphthalmia

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Sources:
9Disease Ontology, 21Genetics Home Reference, 11DISEASES, 43Novoseek, 47Orphanet, 55SNOMED-CT, 60UMLS, 27ICD9CM, 33MeSH, 26ICD10 via Orphanet, 25ICD10
See all sources

Microphthalmia, Aliases & Descriptions:

Name: Microphthalmia 9 21 11 43
Microphthalmos 9 21
Nanophthalmia 9 47
 
Simple Microphthalmos 9
Nanophthalmos 9


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases, Rare diseases
Anatomical: Eye diseases


Characteristics (Orphanet epidemiological data):

47
nanophthalmia:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy


External Ids:

Disease Ontology9 DOID:10629
ICD9CM27 743.10, 743.1
MeSH33 D008850
Orphanet47 35612
ICD10 via Orphanet26 Q11.2
ICD1025 Q11.2

Related Diseases for Microphthalmia

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

(show top 50)    (show all 408)
idRelated DiseaseScoreTop Affiliating Genes
1microphthalmia, syndromic 131.4BCOR
2microphthalmia with cataract 231.0SIX6
3anophthalmia/microphthalmia30.8OTX2, SIX6, RAX, VSX2, SOX2
4anophthalmia plus syndrome30.6SOX2, VSX2, OTX2
5coloboma30.5VSX2, BCOR, SOX2, GDF6, OTX2
6sox2-related eye disorders30.3SOX2
7sensorineural hearing loss29.9MITF, SOX2
8melanoma10.7
9microphthalmia, syndromic 710.6
10cataract10.5
11colobomatous microphthalmia10.5
12retinitis10.4
13microphthalmia, syndromic 310.4
14microphthalmia, syndromic 610.4
15nanophthalmos 210.4
16microphthalmia, syndromic 810.4
17microcephaly10.4
18arhinia choanal atresia microphthalmia10.4
19macrosomia with lethal microphthalmia10.4
20microphthalmia, syndromic 510.4
21microphthalmia, syndromic 910.4
22microphthalmia, syndromic 410.4
23congenital diaphragmatic hernia10.3STRA6
24microphthalmia cataract10.3
25nanophthalmos 310.3
26nanophthalmos 410.3
27microphthalmia syndromic 1010.3
28retinitis pigmentosa10.3
29florid cemento-osseous dysplasia10.3
30microphthalmia microtia fetal akinesia10.3
31microphthalmia with limb anomalies10.2
32microphthalmia with coloboma 6, digenic10.2
33sclerocornea10.2
34dextrocardia with unusual facies and microphthalmia10.2
35mental retardation10.2
36microphthalmia, isolated 510.2
37microphthalmia, isolated 110.2
38microphthalmia with coloboma 510.2
39microphthalmia with coloboma 310.2
40holoprosencephaly10.2
41esophageal atresia10.2
42esophagitis10.2
43cataract, congenital, with microcornea or slight microphthalmia10.2
44microphthalmia, isolated, with corectopia10.2
45isolated microphthalmia10.2
46microcephaly microphthalmos blindness10.2
47microphthalmia, isolated, with coloboma 710.2
48microphthalmia, isolated 610.2
49microphthalmia, isolated 410.2
50microphthalmia, isolated 210.2

Graphical network of the top 20 diseases related to Microphthalmia:



Diseases related to microphthalmia

Symptoms for Microphthalmia

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Symptoms:

 47 (show all 11)
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • glaucoma
  • choroidal anomalies/atrophy/choroideremia
  • hypermetropia
  • strabismus/squint
  • retinitis pigmentosa/retinal pigmentary changes
  • autosomal dominant inheritance
  • autosomal recessive inheritance
  • antenatal exposure to infectious agent
  • antenatal exposure : ionizing radiations
  • antenatal exposure : chemical product

HPO human phenotypes related to Microphthalmia:

(show all 6)
id Description Frequency HPO Source Accession
1 strabismus hallmark (90%) HP:0000486
2 glaucoma hallmark (90%) HP:0000501
3 hypermetropia hallmark (90%) HP:0000540
4 choroideremia hallmark (90%) HP:0001139
5 aplasia/hypoplasia affecting the eye hallmark (90%) HP:0008056
6 abnormal retinal pigmentation occasional (7.5%) HP:0007703

Drugs & Therapeutics for Microphthalmia

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Drug clinical trials:

Search ClinicalTrials for Microphthalmia

Search NIH Clinical Center for Microphthalmia

Genetic Tests for Microphthalmia

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Anatomical Context for Microphthalmia

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MalaCards organs/tissues related to Microphthalmia:

31
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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MGI Mouse Phenotypes related to Microphthalmia:

35 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.8SMOC1, SOX2, STRA6, MITF, VSX2, OTX2
2MP:00053778.7SOX2, GDF6, MIR96, MITF, OTX2
3MP:00053798.1ALDH1A3, MITF, SOX2, SIX6, VSX2, OTX2
4MP:00053908.0OTX2, GDF6, SMOC1, SOX2, MITF, ALDH1A3
5MP:00028737.9SOX2, MITF, OTX2, RAX, HCCS, GDF3
6MP:00053827.3ALDH1A3, GDF6, SMOC1, RAX, MITF, SOX2
7MP:00053787.2SOX2, SMOC1, OTX2, RAX, MITF, MIR96
8MP:00053806.9BCOR, OTX2, RAX, ALDH1A3, STRA6, SOX2
9MP:00053916.5MITF, RAX, VSX2, ALDH1A3, OTX2, STRA6
10MP:00036316.2RAX, SIX6, OTX2, VSX2, BCOR, MITF
11MP:00107685.8STRA6, MITF, GDF6, SMOC1, TMEM98, SOX2

Publications for Microphthalmia

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Articles related to Microphthalmia:

(show top 50)    (show all 531)
idTitleAuthorsYear
1
A novel role for microphthalmia-associated transcription factor-regulated pigment epithelium-derived factor during melanoma progression. (25447045)
2015
2
The roles of microphthalmia-associated transcription factor and pigmentation in melanoma. (25111671)
2014
3
Microphthalmia with Linear Skin Defects (MLS) associated with Autism Spectrum Disorder (ASD) in a patient with Familial 12.9Mb Terminal Xp deletion. (25182979)
2014
4
Microphthalmia-associated transcription factor as the molecular target of cadmium toxicity in human melanocytes. (25449283)
2014
5
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
6
Sesamin induces melanogenesis by microphthalmia-associated transcription factor and tyrosinase up-regulation via cAMP signaling pathway. (21896570)
2011
7
A deletion in a cis element of Foxe3 causes cataracts and microphthalmia in rct mice. (22002806)
2011
8
MicroRNA-340-mediated degradation of microphthalmia-associated transcription factor mRNA is inhibited by the coding region determinant-binding protein. (20439467)
2010
9
SOX9, through interaction with microphthalmia-associated transcription factor (MITF) and OTX2, regulates BEST1 expression in the retinal pigment epithelium. (20530484)
2010
10
A novel isoform of microphthalmia-associated transcription factor inhibits IL-8 gene expression in human cervical stromal cells. (20573688)
2010
11
Bilateral Microphthalmia with Optic Nerve Hypoplasia and Achiasmia. (20337361)
2010
12
Examination of SOX2 in variable ocular conditions identifies a recurrent deletion in microphthalmia and lack of mutations in other phenotypes. (20454695)
2010
13
Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases. (20494911)
2010
14
Effect of the mutant microphthalmia-associated transcription factor found in Tietz syndrome on the in vitro development of mast cells. (20485200)
2010
15
A role of the microphthalmia-associated transcription factor in congenital sensorineural deafness and eye pigmentation in Dalmatian dogs. (19207931)
2009
16
Microphthalmia and microcornea: in congenital cytomegalovirus. (19574708)
2009
17
Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia. (19921648)
2009
18
MicroRNA-137 targets microphthalmia-associated transcription factor in melanoma cell lines. (18316599)
2008
19
Epistatic connections between microphthalmia-associated transcription factor and endothelin signaling in Waardenburg syndrome and other pigmentary disorders. (18039926)
2008
20
Holoprosencephaly spectrum, ano/microphthalmia, and first branchial arch defects: evidence for a new disorder. (18049080)
2008
21
Construction of protein chip to detect binding of Mitf protein (microphthalmia transcription factor) and E-box DNA. (18427742)
2008
22
Microphthalmia, persistent hyperplastic hyaloid vasculature and lens anomalies following overexpression of VEGF-A188 from the alphaA-crystallin promoter. (17277743)
2007
23
Mutational analysis of the human MBX gene in four Korean families demonstrating microphthalmia with congenital cataract. (17990594)
2007
24
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
25
Microencephaly and microphthalmia in rat fetuses by busulfan. (17290349)
2007
26
CRYBA4, a novel human cataract gene, is also involved in microphthalmia. (16960806)
2006
27
Suppression of progressive loss of coat color in microphthalmia-vitiligo mutant mice. (16117796)
2005
28
The cleavage of microphthalmia-associated transcription factor, MITF, by caspases plays an essential role in melanocyte and melanoma cell apoptosis. (16140982)
2005
29
Split hand malformation, hypospadias, microphthalmia, distinctive face and short stature in two brothers suggest a new syndrome. (15809993)
2005
30
Giant cell tumors: inquiry into immunohistochemical expression of CD117 (c-Kit), microphthalmia transcription factor, tartrate-resistant acid phosphatase, and HAM-56. (15737031)
2005
31
A population-based case-control study of isolated anophthalmia and microphthalmia. (16284872)
2005
32
Microphthalmia-associated transcription factor and tyrosinase as markers of melanoma cells in blood of patients with melanoma. (15103749)
2004
33
Absence of deletion at the SOX2 locus in a case of microphthalmia and esophageal atresia. (15487011)
2004
34
The novel mouse microphthalmia mutations Mitfmi-enu5 and Mitfmi-bcc2 produce dominant negative Mitf proteins. (15081122)
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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Clinvar genetic disease variations for Microphthalmia:

6
id Gene Variation Type Significance SNP ID Assembly Location
1NM_031433.3(MFRP): c.1150dupC (p.His384Profs)duplicationPathogenicGRCh37Chr 11, 119213688: 119213688
2NM_031433.3(MFRP): c.523C> T (p.Gln175Ter)single nucleotide variantPathogenicrs121908189GRCh37Chr 11, 119216248: 119216248
3NM_031433.3(MFRP): c.498delC (p.Asn167Thrfs)deletionPathogenicGRCh37Chr 11, 119216273: 119216273
4NM_031433.3(MFRP): c.545T> C (p.Ile182Thr)single nucleotide variantPathogenicrs121908190GRCh37Chr 11, 119216226: 119216226

Expression for genes affiliated with Microphthalmia

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Search GEO for disease gene expression data for Microphthalmia.

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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Cellular components related to Microphthalmia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein complexGO:00432349.7OTX2, MITF, STRA6

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1diencephalon morphogenesisGO:004885210.2OTX2, SOX2
2limb developmentGO:006017310.1RAX, SMOC1
3primitive streak formationGO:009000910.0OTX2, GDF3
4somite rostral/caudal axis specificationGO:003252510.0OTX2, GDF3
5cell fate commitmentGO:00451659.9VSX2, MITF
6lung alveolus developmentGO:00482869.9SOX2, STRA6
7endoderm developmentGO:00074929.9OTX2, GDF3
8forebrain developmentGO:00309009.9OTX2, SOX2
9visual perceptionGO:00076019.8SIX6, RAX, VSX2
10camera-type eye developmentGO:00430109.8RAX, MITF, PRSS56
11eye developmentGO:00016549.7SOX2, SMOC1, GDF3
12retinoic acid metabolic processGO:00425739.6STRA6, ALDH1A3
13growthGO:00400079.5GDF3, GDF6
14inner ear morphogenesisGO:00424729.3SOX2, ALDH1A3, OTX2
15positive regulation of transcription, DNA-templatedGO:00458939.3GDF6, SOX2, MITF, OTX2
16positive regulation of transcription from RNA polymerase II promoterGO:00459449.2SOX2, MITF, VSX2, OTX2

Molecular functions related to Microphthalmia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcriptionGO:00010779.7OTX2, MITF, SOX2
2sequence-specific DNA bindingGO:00435658.9OTX2, 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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet