MCID: MCR013
MIFTS: 53

Microphthalmia malady

Eye diseases, Fetal diseases, Rare diseases categories

Aliases & Classifications for Microphthalmia

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Sources:
10Disease Ontology, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 36MeSH, 51Orphanet, 59SNOMED-CT, 29ICD9CM, 65UMLS, 28ICD10 via Orphanet, 27ICD10
See all sources

Aliases & Descriptions for Microphthalmia:

Name: Microphthalmia 10 23 47 12
Microphthalmos 10 23 36
Nanophthalmia 10 51
 
Simple Microphthalmos 10
Nanophthalmos 10


Classifications:



Characteristics (Orphanet epidemiological data):

51
nanophthalmia:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy


External Ids:

Disease Ontology10 DOID:10629
ICD9CM29 743.10, 743.1
MeSH36 D008850
Orphanet51 35612
ICD10 via Orphanet28 Q11.2
ICD1027 Q11.2

Summaries for Microphthalmia

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Genetics Home Reference:23 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 anophthalmos with limb anomalies and partial cryptophthalmia, and has symptoms including strabismus, glaucoma and hypermetropia. An important gene associated with Microphthalmia is TMEM98 (Transmembrane Protein 98), and among its related pathways are Human Early Embryo Development and Cardiac Progenitor Differentiation. Affiliated tissues include eye, skin and heart, and related mouse phenotypes are hearing/vestibular/ear and digestive/alimentary.

Disease Ontology:10 An eye disease where one or both eyeballs are abnormally small.

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 453)
idRelated DiseaseScoreTop Affiliating Genes
1anophthalmos with limb anomalies30.1OTX2, PAX6, SOX2, VSX2
2partial cryptophthalmia30.0GDF6, HMGB3, STRA6, TENM3, VSX2
3optic nerve hypoplasia29.9PAX6, SOX2
4aniridia29.8OTX2, PAX6, PITX3
5melanoma10.7
6microphthalmia, syndromic 110.7
7linear skin defects with multiple congenital anomalies 110.6
8coloboma10.6
9anophthalmia/microphthalmia10.5
10cataract10.5
11microphthalmia, syndromic 310.5
12microphthalmia, syndromic 910.5
13colobomatous microphthalmia10.5
14microphthalmia, syndromic 610.5
15microphthalmia, syndromic 810.5
16retinitis10.5
17microphthalmia, syndromic 510.4
18microphthalmia, syndromic 210.4
19microphthalmia, isolated 510.4
20microcephaly10.4
21nanophthalmos 310.4
22microphthalmia, syndromic 1410.4
23microphthalmia, syndromic 1310.4
24microphthalmia, isolated 610.3
25microphthalmia, syndromic 1210.3
26microphthalmia, syndromic 1110.3
27microphthalmia with limb anomalies10.3
28microphthalmia with coloboma 310.3
29macrosomia with lethal microphthalmia10.3
30microphthalmia, isolated, with coloboma 710.3
31microphthalmia with coloboma 510.3
32microphthalmia with coloboma 6, digenic10.3
33arhinia choanal atresia microphthalmia10.3
34microphthalmia, isolated 210.3
35microphthalmia, syndromic 410.3
36microphthalmia, isolated, with coloboma 910.3
37microphthalmia, isolated 410.3
38microphthalmia, isolated 810.3
39microphthalmia, isolated 310.3
40chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia10.3
41sclerocornea10.3
42dextrocardia with unusual facies and microphthalmia10.3
43microphthalmia cataract10.3
44microphthalmia microtia fetal akinesia10.3
45microphthalmia syndromic 1010.3
46isolated microphthalmia10.3
47sucla2-related mitochondrial dna depletion syndrome, encephalomyopathic form, with mild methylmalonic aciduria10.2SIX6, SOX2
48microphthalmia, isolated 710.2
49microphthalmia, isolated 110.2
50holoprosencephaly10.2

Graphical network of the top 20 diseases related to Microphthalmia:



Diseases related to microphthalmia

Symptoms for Microphthalmia

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Symptoms:

 51 (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 abnormality of retinal pigmentation occasional (7.5%) HP:0007703

Drugs & Therapeutics for Microphthalmia

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Phase 2 Study in Patients With MiT TumorsCompletedNCT00557609Phase 2
2Long-term Postoperative Outcomes After Bilateral Congenital Cataract Surgery in Eyes With MicrophthalmosCompletedNCT01818037
3Molecular Analysis of Microphthalmia/AnophthalmiaCompletedNCT00011843
4Fundus Changes in the Microphthalmy EyesCompletedNCT00811512
5Study of Selected X-Linked Disorders: Aicardi SyndromeRecruitingNCT00697411
6Quality of Life in Children Glaucoma and CataractRecruitingNCT02490267

Search NIH Clinical Center for Microphthalmia


Cochrane evidence based reviews: Microphthalmos

Genetic Tests for Microphthalmia

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Anatomical Context for Microphthalmia

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MalaCards organs/tissues related to Microphthalmia:

33
Eye, Skin, Heart, Bone, Myeloid, Retina, Lymph node

Animal Models for Microphthalmia or affiliated genes

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MGI Mouse Phenotypes related to Microphthalmia:

38 (show all 14)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.8BMP4, GDF6, MITF, OTX2, PAX6, SOX2
2MP:00053819.4BMP4, OTX2, PAX6, RAX, SMOC1, SOX2
3MP:00011869.4MFRP, MITF, OTX2, PAX6, PITX3, SMOC1
4MP:00107719.2BMP4, MITF, PAX6, PITX3, SMOC1, SOX2
5MP:00028739.2ALDH1A3, BMP4, HCCS, HMGB3, MITF, OTX2
6MP:00053909.1ALDH1A3, BMP4, GDF6, MITF, OTX2, PAX6
7MP:00053808.9ALDH1A3, BCOR, BMP4, HCCS, OTX2, PAX6
8MP:00053798.8ALDH1A3, BMP4, MITF, OTX2, PAX6, PITX3
9MP:00053828.7ALDH1A3, BCOR, BMP4, GDF6, MITF, OTX2
10MP:00053868.6BMP4, MITF, OTX2, PAX6, PITX3, RAX
11MP:00053788.5BMP4, GDF6, HCCS, MITF, OTX2, PAX6
12MP:00053917.8ALDH1A3, BMP4, GDF6, MFRP, MITF, OTX2
13MP:00107687.7ALDH1A3, BCOR, BMP4, GDF6, HCCS, MITF
14MP:00036317.1BCOR, BMP4, GDF6, MFRP, MITF, OTX2

Publications for Microphthalmia

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Articles related to Microphthalmia:

(show top 50)    (show all 555)
idTitleAuthorsYear
1
A novel role for microphthalmia-associated transcription factor-regulated pigment epithelium-derived factor during melanoma progression. (25447045)
2015
2
Kabuki syndrome: expanding the phenotype to include microphthalmia and anophthalmia. (26049589)
2015
3
The roles of microphthalmia-associated transcription factor and pigmentation in melanoma. (25111671)
2014
4
Microphthalmia with Linear Skin Defects (MLS) associated with Autism Spectrum Disorder (ASD) in a patient with Familial 12.9Mb Terminal Xp deletion. (25182979)
2014
5
Microphthalmia-associated transcription factor as the molecular target of cadmium toxicity in human melanocytes. (25449283)
2014
6
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
7
Sesamin induces melanogenesis by microphthalmia-associated transcription factor and tyrosinase up-regulation via cAMP signaling pathway. (21896570)
2011
8
A deletion in a cis element of Foxe3 causes cataracts and microphthalmia in rct mice. (22002806)
2011
9
MicroRNA-340-mediated degradation of microphthalmia-associated transcription factor mRNA is inhibited by the coding region determinant-binding protein. (20439467)
2010
10
SOX9, through interaction with microphthalmia-associated transcription factor (MITF) and OTX2, regulates BEST1 expression in the retinal pigment epithelium. (20530484)
2010
11
A novel isoform of microphthalmia-associated transcription factor inhibits IL-8 gene expression in human cervical stromal cells. (20573688)
2010
12
Bilateral Microphthalmia with Optic Nerve Hypoplasia and Achiasmia. (20337361)
2010
13
Examination of SOX2 in variable ocular conditions identifies a recurrent deletion in microphthalmia and lack of mutations in other phenotypes. (20454695)
2010
14
Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases. (20494911)
2010
15
Effect of the mutant microphthalmia-associated transcription factor found in Tietz syndrome on the in vitro development of mast cells. (20485200)
2010
16
A role of the microphthalmia-associated transcription factor in congenital sensorineural deafness and eye pigmentation in Dalmatian dogs. (19207931)
2009
17
Microphthalmia and microcornea: in congenital cytomegalovirus. (19574708)
2009
18
Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia. (19921648)
2009
19
MicroRNA-137 targets microphthalmia-associated transcription factor in melanoma cell lines. (18316599)
2008
20
Epistatic connections between microphthalmia-associated transcription factor and endothelin signaling in Waardenburg syndrome and other pigmentary disorders. (18039926)
2008
21
Holoprosencephaly spectrum, ano/microphthalmia, and first branchial arch defects: evidence for a new disorder. (18049080)
2008
22
Construction of protein chip to detect binding of Mitf protein (microphthalmia transcription factor) and E-box DNA. (18427742)
2008
23
Microphthalmia, persistent hyperplastic hyaloid vasculature and lens anomalies following overexpression of VEGF-A188 from the alphaA-crystallin promoter. (17277743)
2007
24
Mutational analysis of the human MBX gene in four Korean families demonstrating microphthalmia with congenital cataract. (17990594)
2007
25
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
26
Microencephaly and microphthalmia in rat fetuses by busulfan. (17290349)
2007
27
CRYBA4, a novel human cataract gene, is also involved in microphthalmia. (16960806)
2006
28
Suppression of progressive loss of coat color in microphthalmia-vitiligo mutant mice. (16117796)
2005
29
The cleavage of microphthalmia-associated transcription factor, MITF, by caspases plays an essential role in melanocyte and melanoma cell apoptosis. (16140982)
2005
30
Split hand malformation, hypospadias, microphthalmia, distinctive face and short stature in two brothers suggest a new syndrome. (15809993)
2005
31
Giant cell tumors: inquiry into immunohistochemical expression of CD117 (c-Kit), microphthalmia transcription factor, tartrate-resistant acid phosphatase, and HAM-56. (15737031)
2005
32
A population-based case-control study of isolated anophthalmia and microphthalmia. (16284872)
2005
33
Microphthalmia-associated transcription factor and tyrosinase as markers of melanoma cells in blood of patients with melanoma. (15103749)
2004
34
Absence of deletion at the SOX2 locus in a case of microphthalmia and esophageal atresia. (15487011)
2004
35
The novel mouse microphthalmia mutations Mitfmi-enu5 and Mitfmi-bcc2 produce dominant negative Mitf proteins. (15081122)
2004
36
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
37
Inhibitory effect on natural killer activity of microphthalmia transcription factor encoded by the mutant mi allele of mice. (11264174)
2001
38
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
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:

5
id Gene Variation Type Significance SNP ID Assembly Location
1TMEM98NM_015544.2(TMEM98): c.577G> C (p.Ala193Pro)single nucleotide variantPathogenicrs587777690GRCh37Chr 17, 31267907: 31267907
2NM_031433.3(MFRP): c.523C> T (p.Gln175Ter)single nucleotide variantPathogenicrs121908189GRCh37Chr 11, 119216248: 119216248
3NM_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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Pathways related to Microphthalmia according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
10.1BMP4, SOX2
29.9BMP4, PAX6, SOX2

GO Terms for genes affiliated with Microphthalmia

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

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1smooth muscle tissue developmentGO:004874510.8BMP4, STRA6
2telencephalon regionalizationGO:002197810.7BMP4, PAX6
3retinoic acid metabolic processGO:004257310.6ALDH1A3, STRA6
4neuron fate commitmentGO:004866310.6BMP4, OTX2, PAX6
5camera-type eye morphogenesisGO:004859310.6BMP4, TENM3
6pituitary gland developmentGO:002198310.5BMP4, PAX6, SOX2
7negative regulation of epithelial cell proliferationGO:005068010.5BMP4, PAX6, SOX2
8eye developmentGO:000165410.3PAX6, SMOC1, SOX2
9cell fate commitmentGO:004516510.2BMP4, MITF, OTX2, PAX6, VSX2
10forebrain developmentGO:003090010.1BMP4, OTX2, PAX6, SOX2
11blood vessel developmentGO:000156810.1BMP4, PAX6, STRA6
12central nervous system developmentGO:000741710.1OTX2, PAX6, VAX1
13visual perceptionGO:00076019.9PAX6, RAX, SIX6, VSX2
14organ morphogenesisGO:00098879.9HCCS, OTX2, PAX6, PITX3, SIX6
15camera-type eye developmentGO:00430109.8BMP4, MITF, PAX6, RAX, VAX1, VSX2
16cell differentiationGO:00301549.8MITF, OTX2, PAX6, SMOC1, VAX1
17brain developmentGO:00074209.8BMP4, PAX6, RAX, VAX1
18regulation of gene expressionGO:00104689.6BMP4, MITF, PAX6, PITX3, SOX2
19positive regulation of transcription, DNA-templatedGO:00458939.6BMP4, GDF6, MITF, OTX2, PAX6, PITX3
20negative regulation of transcription from RNA polymerase II promoterGO:00001229.4BCOR, BMP4, MITF, PAX6, SOX2, VAX1
21transcription from RNA polymerase II promoterGO:00063668.9MITF, OTX2, PAX6, PITX3, RAX, SIX6
22positive regulation of transcription from RNA polymerase II promoterGO:00459448.9BMP4, MITF, OTX2, PAX6, PITX3, RAX
23regulation of transcription, DNA-templatedGO:00063558.6HMGB3, MITF, OTX2, PAX6, PITX3, RAX

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

idNameGO IDScoreTop Affiliating Genes
1transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific bindingGO:000122710.3MITF, PAX6, VAX1
2RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:00009789.9MITF, OTX2, PAX6, PITX3, RAX
3transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010779.9MITF, OTX2, PAX6, PITX3, RAX, SOX2
4sequence-specific DNA bindingGO:00435659.1OTX2, PAX6, PITX3, RAX, SOX2, VAX1
5transcription factor activity, sequence-specific DNA bindingGO:00037009.0MITF, OTX2, PAX6, PITX3, SOX2, VAX1
6DNA bindingGO:00036778.4HMGB3, MITF, OTX2, PAX6, PITX3, RAX

Sources for Microphthalmia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet