MCID: MCR013
MIFTS: 59

Microphthalmia malady

Categories: Rare diseases, Eye diseases, Fetal diseases

Aliases & Classifications for Microphthalmia

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Sources:
11Disease Ontology, 13DISEASES, 25Genetics Home Reference, 26GTR, 29ICD10, 30ICD10 via Orphanet, 31ICD9CM, 38MeSH, 44NCIt, 47NIH Rare Diseases, 49Novoseek, 53Orphanet, 61SNOMED-CT, 67UMLS
See all MalaCards sources

Aliases & Descriptions for Microphthalmia:

Name: Microphthalmia 11 47 25 49 13
Microphthalmos 11 25 26 38
Nanophthalmia 11 53
Isolated Anophthalmia-Microphthalmia Syndrome 47
Microphthalmia-Anophthalmia-Coloboma Spectrum 47
Isolated Anophthalmia - Microphthalmia 47
 
Isolated Pure Microphthalmia 47
Primitive Anophthalmia 47
Simple Microphthalmos 11
Clinical Anophthalmia 47
Nanophthalmos 11
Mac Spectrum 47

Characteristics:

Orphanet epidemiological data:

53
nanophthalmia:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

Classifications:



External Ids:

Disease Ontology11 DOID:10629
ICD1029 Q11.2
MeSH38 D008850
NCIt44 C98989
Orphanet53 ORPHA35612
ICD10 via Orphanet30 Q11.2

Summaries for Microphthalmia

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Genetics Home Reference:25 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, isolated 4 and microphthalmia with coloboma 6, digenic, 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 hearing/vestibular/ear and no phenotypic analysis.

Disease Ontology:11 An eye disease where one or both eyeballs are abnormally small.

Wikipedia:70 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 223)
idRelated DiseaseScoreTop Affiliating Genes
1microphthalmia, isolated 434.0GDF3, GDF6
2microphthalmia with coloboma 6, digenic33.9GDF3, GDF6
3coloboma of optic nerve31.5GDF3, PAX6
4esophageal atresia30.6GDF3, STRA6
5microphthalmia, syndromic 112.2
6microphthalmia, syndromic 312.1
7microphthalmia, syndromic 912.1
8microphthalmia, syndromic 612.1
9microphthalmia, isolated 512.1
10microphthalmia, syndromic 812.1
11microphthalmia, syndromic 212.1
12microphthalmia with limb anomalies12.1
13microphthalmia, syndromic 512.1
14microphthalmia, syndromic 1412.1
15chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia12.0
16microphthalmia, syndromic 1312.0
17microphthalmia, isolated 612.0
18microphthalmia, syndromic 1112.0
19microphthalmia, syndromic 1212.0
20microphthalmia, isolated 212.0
21microphthalmia, isolated 812.0
22microphthalmia, isolated 712.0
23microphthalmia, isolated 312.0
24microphthalmia with coloboma 312.0
25microphthalmia with coloboma 512.0
26microphthalmia, isolated 112.0
27microphthalmia, isolated, with coloboma 712.0
28microphthalmia, isolated, with coloboma 912.0
29fryns microphthalmia syndrome11.9
30isolated microphthalmia11.9
31microphthalmia, isolated, with coloboma 1011.9
32arhinia, choanal atresia, and microphthalmia11.9
33colobomatous microphthalmia11.9
34microcephaly microphthalmos blindness11.8
35anophthalmia/microphthalmia11.8
36microphthalmia, syndromic 411.8
37linear skin defects with multiple congenital anomalies 111.8
38lenz microphthalmia syndromic11.7
39microphthalmia, syndromic 1011.7
40macrosomia with microphthalmia, lethal11.7
41microphthalmia microtia fetal akinesia11.7
42microphthalmia with cataract 111.7
43naa10-related lenz microphthalmia syndrome11.7
44bcor-related lenz microphthalmia syndrome11.7
45cataract, congenital, with microcornea or slight microphthalmia11.6
46dextrocardia with unusual facies and microphthalmia11.6
47intellectual disability - athetosis - microphthalmia11.6
48microphthalmia/anophthalmia/coloboma spectrum11.6
49frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome11.6
50microphthalmia associated with colobomatous cyst11.6

Graphical network of the top 20 diseases related to Microphthalmia:



Diseases related to microphthalmia

Symptoms for Microphthalmia

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Human phenotypes related to Microphthalmia:

 63 53 (show all 9)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 strabismus63 53 hallmark (90%) Very frequent (99-80%) HP:0000486
2 glaucoma63 53 hallmark (90%) Very frequent (99-80%) HP:0000501
3 hypermetropia63 hallmark (90%) HP:0000540
4 choroideremia63 hallmark (90%) HP:0001139
5 aplasia/hypoplasia affecting the eye63 hallmark (90%) HP:0008056
6 abnormality of retinal pigmentation63 53 occasional (7.5%) Occasional (29-5%) HP:0007703
7 microphthalmia53 Very frequent (99-80%)
8 abnormality of the choroid53 Very frequent (99-80%)
9 high-grade hypermetropia53 Very frequent (99-80%)

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
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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Genetic tests related to Microphthalmia:

id Genetic test Affiliating Genes
1 Microphthalmos26

Anatomical Context for Microphthalmia

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MalaCards organs/tissues related to Microphthalmia:

35
Eye, Skin, Heart, Retina, Bone, Pituitary, Myeloid

Animal Models for Microphthalmia or affiliated genes

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MGI Mouse Phenotypes related to Microphthalmia:

40 (show all 14)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537710.2BMP4, GDF6, MITF, OTX2, PAX6, SOX2
2MP:00030129.9BMP4, MITF, PITX3, RAX, SOX2, STRA6
3MP:00011869.8MFRP, MITF, OTX2, PAX6, PITX3, SOX2
4MP:00053909.6ALDH1A3, BMP4, GDF6, MITF, OTX2, PAX6
5MP:00053799.6ALDH1A3, BMP4, MITF, OTX2, PAX6, PITX3
6MP:00028739.5ALDH1A3, BMP4, GDF3, HCCS, MITF, OTX2
7MP:00053809.4ALDH1A3, BCOR, BMP4, GDF3, HCCS, MITF
8MP:00053829.3ALDH1A3, BMP4, GDF6, MITF, OTX2, PAX6
9MP:00053849.2BMP4, GDF3, HCCS, MITF, OTX2, PAX6
10MP:00053918.7ALDH1A3, BMP4, GDF6, MFRP, MITF, OTX2
11MP:00053788.5ALDH1A3, BCOR, BMP4, GDF3, GDF6, HCCS
12MP:00107688.5ALDH1A3, BCOR, BMP4, GDF3, GDF6, HCCS
13MP:00036318.3BCOR, BMP4, GDF6, MFRP, MITF, OTX2

Publications for Microphthalmia

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Articles related to Microphthalmia:

(show top 50)    (show all 600)
idTitleAuthorsYear
1
Trends over time in the incidence of congenital anophthalmia, microphthalmia and orbital malformation in England: database study. (27601422)
2016
2
A novel role for microphthalmia-associated transcription factor-regulated pigment epithelium-derived factor during melanoma progression. (25447045)
2015
3
microRNA-155, Induced by Interleukin-1A9, Represses the Expression of Microphthalmia-Associated Transcription Factor (MITF-M) in Melanoma Cells. (25853464)
2015
4
Microphthalmia-associated transcription factor in melanoma development and MAP-kinase pathway targeted therapy. (25818589)
2015
5
Microphthalmia-associated transcription factor is required for mature myotube formation. (22138449)
2012
6
Digital evaluation of orbital development in chinese children with congenital microphthalmia. (22633356)
2012
7
Regulation of retinal progenitor expansion by Frizzled receptors: implications for microphthalmia and retinal coloboma. (22228100)
2012
8
Congenital anophthalmia and microphthalmia: epidemiology and orbitofacial rehabilitation. (22267908)
2011
9
The genetics of anophthalmia and microphthalmia. (21825993)
2011
10
C-KIT signaling depends on microphthalmia-associated transcription factor for effects on cell proliferation. (21887372)
2011
11
MicroRNA-340-mediated degradation of microphthalmia-associated transcription factor mRNA is inhibited by the coding region determinant-binding protein. (20439467)
2010
12
A novel isoform of microphthalmia-associated transcription factor inhibits IL-8 gene expression in human cervical stromal cells. (20573688)
2010
13
Bilateral Microphthalmia with Optic Nerve Hypoplasia and Achiasmia. (20337361)
2010
14
Examination of SOX2 in variable ocular conditions identifies a recurrent deletion in microphthalmia and lack of mutations in other phenotypes. (20454695)
2010
15
Fifteen-year quest for microphthalmia-associated transcription factor target genes. (19995375)
2010
16
The correlation of TRPM1 (Melastatin) mRNA expression with microphthalmia-associated transcription factor (MITF) and other melanogenesis-related proteins in normal and pathological skin, hair follicles and melanocytic nevi. (20482673)
2010
17
Aberrant miR-182 expression promotes melanoma metastasis by repressing FOXO3 and microphthalmia-associated transcription factor. (19188590)
2009
18
Epistatic connections between microphthalmia-associated transcription factor and endothelin signaling in Waardenburg syndrome and other pigmentary disorders. (18039926)
2008
19
Holoprosencephaly spectrum, ano/microphthalmia, and first branchial arch defects: evidence for a new disorder. (18049080)
2008
20
Microphthalmia, persistent hyperplastic hyaloid vasculature and lens anomalies following overexpression of VEGF-A188 from the alphaA-crystallin promoter. (17277743)
2007
21
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
22
Ano/microphthalmia, ocular cysts, central nervous system malformations, and neuropsychological delay. Diagnostic considerations on 2 Brazilian patients. (19668508)
2007
23
Role of microphthalmia transcription factor (Mitf) in melanoma differentiation. (17266927)
2007
24
CRYBA4, a novel human cataract gene, is also involved in microphthalmia. (16960806)
2006
25
The microphthalmia-associated transcription factor Mitf interacts with beta-catenin to determine target gene expression. (17000761)
2006
26
Suppression of progressive loss of coat color in microphthalmia-vitiligo mutant mice. (16117796)
2005
27
The cleavage of microphthalmia-associated transcription factor, MITF, by caspases plays an essential role in melanocyte and melanoma cell apoptosis. (16140982)
2005
28
A population-based case-control study of isolated anophthalmia and microphthalmia. (16284872)
2005
29
Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome. (15770227)
2005
30
Hypoxia-inducible factor 1{alpha} is a new target of microphthalmia-associated transcription factor (MITF) in melanoma cells. (15983061)
2005
31
Absence of deletion at the SOX2 locus in a case of microphthalmia and esophageal atresia. (15487011)
2004
32
Absence of SIX6 mutations in microphthalmia, anophthalmia, and coloboma. (15505031)
2004
33
The microphthalmia transcription factor (Mitf) controls expression of the ocular albinism type 1 gene: link between melanin synthesis and melanosome biogenesis. (15254223)
2004
34
Microphthalmia in Texel lambs. (16032324)
2003
35
The microphthalmia transcription factor and the related helix-loop-helix zipper factors TFE-3 and TFE-C collaborate to activate the tartrate-resistant acid phosphatase promoter. (11818452)
2002
36
Inhibitory effect on natural killer activity of microphthalmia transcription factor encoded by the mutant mi allele of mice. (11264174)
2001
37
Inhibitory effect of the transcription factor encoded by the mutant mi microphthalmia allele on transactivation of mouse mast cell protease 7 gene. (11157480)
2001
38
Microphthalmia transcription factor expression in cutaneous benign, malignant melanocytic, and nonmelanocytic tumors. (11145251)
2001
39
Genetic mapping of a novel X-linked recessive colobomatous microphthalmia. (11391653)
2001
40
Microphthalmia due to p53-mediated apoptosis of anterior lens epithelial cells in mice lacking the CREB-2 transcription factor. (10885750)
2000
41
Expression of genes for microphthalmia isoforms, Pax3 and MSG1, in human melanomas. (10644012)
1999
42
Phenotype of autosomal recessive congenital microphthalmia mapping to chromosome 14q32. (10413693)
1999
43
Role of microphthalmia transcription factor in regulation of melanocyte differentiation marker TRP-1. (10080955)
1999
44
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
45
A locus for autosomal recessive congenital microphthalmia maps to chromosome 14q32. (9545413)
1998
46
Cloning and characterization of a novel rho-type GTPase-activating protein gene (ARHGAP6) from the critical region for microphthalmia with linear skin defects. (9417914)
1997
47
Colobomatous microphthalmia with midfacial clefting: part of the spectrum of branchio-oculo-facial syndrome? (8832722)
1996
48
A second case of microcephaly, microphthalmia, ectrodactyly (split-foot) and prognathism (MMEP). (8867664)
1996
49
Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene. (7874167)
1994
50
Anophthalmia/Microphthalmia Overview (20301552)
1993

Variations for Microphthalmia

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Copy number variations for Microphthalmia from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1264074X60000009500000Copy numberMicrophthalmia

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 25)
idNameGO IDScoreTop Affiliating Genes
1primitive streak formationGO:009000910.9GDF3, OTX2
2pulmonary valve morphogenesisGO:000318410.8BMP4, STRA6
3telencephalon regionalizationGO:002197810.8BMP4, PAX6
4regulation of cell fate commitmentGO:001045310.8BMP4, GDF3
5eye photoreceptor cell developmentGO:004246210.8MFRP, PAX6
6camera-type eye morphogenesisGO:004859310.7BMP4, TENM3
7smooth muscle tissue developmentGO:004874510.6BMP4, STRA6
8SMAD protein signal transductionGO:006039510.6BMP4, GDF3, GDF6
9pituitary gland developmentGO:002198310.6BMP4, PAX6, SOX2
10dopaminergic neuron differentiationGO:007154210.6OTX2, PITX3
11negative regulation of myoblast differentiationGO:004566210.5BMP4, GDF3
12positive regulation of pathway-restricted SMAD protein phosphorylationGO:001086210.5BMP4, GDF3, GDF6
13negative regulation of epithelial cell proliferationGO:005068010.5BMP4, PAX6, SOX2
14blood vessel developmentGO:000156810.5BMP4, PAX6, STRA6
15retina development in camera-type eyeGO:006004110.4BMP4, MFRP, PAX6
16eye developmentGO:000165410.4GDF3, PAX6, SIX6, SOX2
17animal organ morphogenesisGO:000988710.3HCCS, PAX6, PITX3, SIX6
18camera-type eye developmentGO:004301010.2BMP4, PAX6, PRSS56, RAX, VAX1
19visual perceptionGO:000760110.0MFRP, PAX6, RAX, SIX6, VSX2
20regulation of gene expressionGO:00104689.9BMP4, PAX6, PITX3, SOX2
21forebrain developmentGO:00309009.9BMP4, OTX2, PAX6, SOX2
22transcription from RNA polymerase II promoterGO:00063669.8MITF, OTX2, PAX6, PITX3, RAX, SIX6
23positive regulation of transcription, DNA-templatedGO:00458939.8BMP4, GDF6, MITF, OTX2, PAX6, PITX3
24negative regulation of transcription from RNA polymerase II promoterGO:00001229.3BCOR, BMP4, MITF, PAX6, SOX2, VAX1
25positive regulation of transcription from RNA polymerase II promoterGO:00459449.3BMP4, MITF, OTX2, PAX6, PITX3, RAX

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

idNameGO IDScoreTop Affiliating Genes
1transforming growth factor beta receptor bindingGO:000516010.4BMP4, GDF3, GDF6
2RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:00009789.7MITF, OTX2, PAX6, PITX3, RAX
3transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific bindingGO:00012279.7MITF, PAX6, VAX1
4transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010779.6MITF, OTX2, PAX6, PITX3, RAX, SOX2

Sources for Microphthalmia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet