MCID: MCR013
MIFTS: 55

Microphthalmia malady

Categories: Rare diseases, Eye diseases, Fetal diseases

Aliases & Classifications for Microphthalmia

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Aliases & Descriptions for Microphthalmia:

Name: Microphthalmia 10 45 23 47 12
Microphthalmos 10 23 36
Nanophthalmia 10 51
Isolated Anophthalmia-Microphthalmia Syndrome 45
Isolated Anophthalmia - Microphthalmia 45
 
Isolated Pure Microphthalmia 45
Primitive Anophthalmia 45
Clinical Anophthalmia 45
Simple Microphthalmos 10
Nanophthalmos 10

Characteristics:

Orphanet epidemiological data:

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

Classifications:



External Ids:

Disease Ontology10 DOID:10629
ICD1027 Q11.2
MeSH36 D008850
NCIt42 C98989
Orphanet51 35612
ICD10 via Orphanet28 Q11.2
UMLS65 C0026010

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 coloboma, ocular, and has symptoms including strabismus, glaucoma and hypermetropia. An important gene associated with Microphthalmia is MFRP (Membrane Frizzled-Related Protein), and among its related pathways are Human Early Embryo Development and Neural Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include eye, skin and heart, and related mouse phenotypes are no phenotypic analysis and hearing/vestibular/ear.

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

Wikipedia:68 Microphthalmia (Greek: μικρός micros = small; ὀφθαλμός ophthalmos = eye), also referred... more...

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 226)
idRelated DiseaseScoreTop Affiliating Genes
1anophthalmos with limb anomalies32.0OTX2, PAX6, SOX2, VSX2
2coloboma, ocular30.1PAX6, SOX2
3microphthalmia, syndromic 112.1
4microphthalmia, syndromic 312.1
5microphthalmia, syndromic 912.1
6microphthalmia, syndromic 612.1
7microphthalmia with limb anomalies12.1
8microphthalmia, syndromic 812.1
9microphthalmia, syndromic 212.1
10microphthalmia, syndromic 512.1
11microphthalmia, isolated 512.0
12microphthalmia, isolated 612.0
13microphthalmia with coloboma 512.0
14microphthalmia, syndromic 1412.0
15microphthalmia, syndromic 1312.0
16microphthalmia, syndromic 1212.0
17microphthalmia with coloboma 312.0
18microphthalmia, isolated, with coloboma 712.0
19microphthalmia, isolated, with coloboma 912.0
20microphthalmia with coloboma 6, digenic12.0
21microphthalmia, syndromic 1112.0
22chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia12.0
23microphthalmia, isolated 212.0
24microphthalmia, isolated 812.0
25isolated microphthalmia12.0
26microphthalmia, isolated 412.0
27microphthalmia, isolated 712.0
28microphthalmia, isolated 312.0
29colobomatous microphthalmia12.0
30microcephaly microphthalmos blindness12.0
31microphthalmia cataract11.9
32anophthalmia/microphthalmia11.9
33microphthalmia, isolated 111.9
34microphthalmia, isolated, with coloboma 1011.9
35microphthalmia, syndromic 411.9
36microphthalmia syndromic 1011.8
37macrosomia with lethal microphthalmia11.8
38microphthalmia microtia fetal akinesia11.8
39arhinia choanal atresia microphthalmia11.8
40intellectual disability - athetosis - microphthalmia11.8
41microphthalmia with brain and digit anomalies11.8
42microphthalmia-ankyloblepharon-intellectual disability syndrome11.8
43cataract, congenital, with microcornea or slight microphthalmia11.7
44dextrocardia with unusual facies and microphthalmia11.7
45frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome11.7
46microphthalmia mental deficiency11.7
47microphthalmia with cataract 111.7
48colobomatous microphthalmia-rhizomelic dysplasia syndrome11.7
49linear skin defects with multiple congenital anomalies 111.7
50microphthalmia/anophthalmia/coloboma spectrum11.7

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
2Molecular Analysis of Microphthalmia/AnophthalmiaCompletedNCT00011843
3Long-term Postoperative Outcomes After Bilateral Congenital Cataract Surgery in Eyes With MicrophthalmosCompletedNCT01818037
4Fundus Changes in the Microphthalmy EyesCompletedNCT00811512
5Quality of Life in Children Glaucoma and CataractCompletedNCT02490267
6Study of Selected X-Linked Disorders: Aicardi SyndromeRecruitingNCT00697411

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, T cells, Prostate, Breast, Lung

Animal Models for Microphthalmia or affiliated genes

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MGI Mouse Phenotypes related to Microphthalmia:

38 (show all 16)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030129.7BMP4, MITF, PITX3, RAX, SOX2, STRA6
2MP:00053779.7BMP4, GDF6, MITF, OTX2, PAX6, SOX2
3MP:00028739.6ALDH1A3, BMP4, HCCS, MITF, OTX2, PAX6
4MP:00053819.5BMP4, OTX2, PAX6, RAX, SMOC1, SOX2
5MP:00053799.4ALDH1A3, BMP4, MITF, OTX2, PAX6, PITX3
6MP:00011869.3MFRP, MITF, OTX2, PAX6, PITX3, SMOC1
7MP:00053859.1BCOR, BMP4, HCCS, OTX2, PAX6, PITX3
8MP:00053809.0ALDH1A3, BCOR, BMP4, HCCS, MITF, OTX2
9MP:00053848.8BMP4, HCCS, MITF, OTX2, PAX6, PITX3
10MP:00053908.7ALDH1A3, BMP4, GDF6, MITF, OTX2, PAX6
11MP:00053828.6ALDH1A3, BMP4, GDF6, MITF, OTX2, PAX6
12MP:00053788.1ALDH1A3, BCOR, BMP4, GDF6, HCCS, MITF
13MP:00053918.1ALDH1A3, BMP4, GDF6, MFRP, MITF, OTX2
14MP:00036317.8BCOR, BMP4, GDF6, MFRP, MITF, OTX2
15MP:00107687.7ALDH1A3, BCOR, BMP4, GDF6, HCCS, MITF

Publications for Microphthalmia

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Articles related to Microphthalmia:

(show top 50)    (show all 577)
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
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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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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GO Terms for genes affiliated with Microphthalmia

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

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1smooth muscle tissue developmentGO:004874510.7BMP4, STRA6
2midbrain developmentGO:003090110.7OTX2, PITX3
3pituitary gland developmentGO:002198310.6BMP4, SOX2
4neuron fate commitmentGO:004866310.6BMP4, PAX6
5odontogenesisGO:004247610.6BCOR, BMP4
6forebrain developmentGO:003090010.5BMP4, OTX2, PAX6
7lung alveolus developmentGO:004828610.5BMP4, STRA6
8blood vessel developmentGO:000156810.4BMP4, PAX6, STRA6
9regulation of gene expressionGO:001046810.4BMP4, PAX6, SOX2
10heart developmentGO:000750710.2BCOR, BMP4, STRA6
11organ morphogenesisGO:000988710.2HCCS, PAX6, SIX6
12eye developmentGO:00016549.9PAX6, SIX6, SMOC1, SOX2
13transcription from RNA polymerase II promoterGO:00063669.9MITF, PAX6, PITX3, SOX2
14visual perceptionGO:00076019.7MFRP, PAX6, RAX, VSX2
15positive regulation of transcription, DNA-templatedGO:00458939.6BMP4, GDF6, MITF, OTX2, PAX6, PITX3
16negative regulation of transcription from RNA polymerase II promoterGO:00001229.5BMP4, MITF, PAX6, SOX2, VAX1
17positive regulation of transcription from RNA polymerase II promoterGO:00459449.4BMP4, MITF, OTX2, PAX6, PITX3, SOX2

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