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, 27GTR, 30ICD10, 31ICD10 via Orphanet, 32ICD9CM, 39MeSH, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 54Orphanet, 62SNOMED-CT, 68UMLS
See all MalaCards sources

Aliases & Descriptions for Microphthalmia:

Name: Microphthalmia 11 48 25 50 13
Microphthalmos 11 25 27 39
Nanophthalmia 11 54
Isolated Anophthalmia-Microphthalmia Syndrome 48
Microphthalmia-Anophthalmia-Coloboma Spectrum 48
Isolated Anophthalmia - Microphthalmia 48
 
Isolated Pure Microphthalmia 48
Primitive Anophthalmia 48
Simple Microphthalmos 11
Clinical Anophthalmia 48
Nanophthalmos 11
Mac Spectrum 48

Characteristics:

Orphanet epidemiological data:

54
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
ICD1030 Q11.2
MeSH39 D008850
NCIt45 C98989
Orphanet54 ORPHA35612
ICD10 via Orphanet31 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 Increased shRNA abundance (Z-score > 2) and hearing/vestibular/ear.

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

Wikipedia:71 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 & Phenotypes for Microphthalmia

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Human phenotypes related to Microphthalmia:

 64 54 (show all 9)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 strabismus64 54 hallmark (90%) Very frequent (99-80%) HP:0000486
2 glaucoma64 54 hallmark (90%) Very frequent (99-80%) HP:0000501
3 hypermetropia64 hallmark (90%) HP:0000540
4 choroideremia64 hallmark (90%) HP:0001139
5 aplasia/hypoplasia affecting the eye64 hallmark (90%) HP:0008056
6 abnormality of retinal pigmentation64 54 occasional (7.5%) Occasional (29-5%) HP:0007703
7 microphthalmia54 Very frequent (99-80%)
8 abnormality of the choroid54 Very frequent (99-80%)
9 high-grade hypermetropia54 Very frequent (99-80%)

GenomeRNAi Phenotypes related to Microphthalmia according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-359.9BCOR, HCCS, MITF, OTX2, VSX2

MGI Mouse Phenotypes related to Microphthalmia according to GeneCards Suite gene sharing:

41 (show all 13)
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

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 Microphthalmos27

Anatomical Context for Microphthalmia

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MalaCards organs/tissues related to Microphthalmia:

36
Eye, Skin, Heart, Retina, Bone, Pituitary, Myeloid

Publications for Microphthalmia

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Articles related to Microphthalmia:

(show top 50)    (show all 600)
idTitleAuthorsYear
1
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. (28067909)
2017
2
Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: phenotypes linked by truncating variants in NDUFB11. (28050600)
2017
3
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development. (28067911)
2017
4
Trends over time in the incidence of congenital anophthalmia, microphthalmia and orbital malformation in England: database study. (27601422)
2016
5
Microphthalmia-associated transcription factor regulates the visual cycle genes Rlbp1 and Rdh5 in the retinal pigment epithelium. (26876013)
2016
6
Campylorrhinus lateralis, Bilateral microphthalmia and odontoma temporalis in an Oldenburg Foal. (26825866)
2016
7
Anti-melanogenic effect of americanin A is associated with regulation of microphthalmia-associated transcription factor. (27975637)
2016
8
Mandibular dysostosis without microphthalmia caused by OTX2 deletion. (27378064)
2016
9
A Unique Case of Bilateral Microphthalmia that May Be Related to 14q32.33. (26730854)
2016
10
Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia. (27103084)
2016
11
The Microphthalmia-Associated Transcription Factor p.E318K Mutation Does Not Play a Major Role in Sporadic Renal Cell Tumors from Caucasian Patients. (26999813)
2016
12
Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness. (27889061)
2016
13
Autopsy Case of Bilateral Optic Nerve Aplasia with Microphthalmia: Neural Retina Formation Is Required for the Coordinated Development of Ocular Tissues. (27094838)
2016
14
Bosma arhinia microphthalmia syndrome: Clinical report and review of the literature. (26842768)
2016
15
Abnormal corneal epithelial maintenance in mice heterozygous for the micropinna microphthalmia mutation Mp. (27235794)
2016
16
Microphthalmia-associated transcription factor suppresses invasion by reducing intracellular GTP pools. (27181209)
2016
17
Digital evaluation of orbital development after self-inflating hydrogel expansion in Chinese children with congenital microphthalmia. (26923661)
2016
18
A new method for sensitive detection of microphthalmia-associated transcription factor based on "OFF-state" and "ON-state" equilibrium of a well-designed probe and duplex-specific nuclease signal amplification. (27573295)
2016
19
Suppression of Melanin Synthesis by Americanin A in Melan-a cells via Regulation of Microphthalmia-Associated Transcription Factor. (26997427)
2016
20
Genetic Advances in Microphthalmia. (27895970)
2016
21
An unusual presentation of Kabuki syndrome with orbital cysts, microphthalmia, and cholestasis with bile duct paucity. (27530281)
2016
22
Central Corneal Thickness in Aphakic Children With Microcornea-Microphthalmia. (27253817)
2016
23
Suppression of microphthalmia-associated transcription factor, but not NF-kappa B sensitizes melanoma specific cell death. (27325430)
2016
24
A novel OTX2 gene frameshift mutation in a child with microphthalmia, ectopic pituitary and growth hormone deficiency. (26974134)
2016
25
Role of microRNA508-3p in melanogenesis by targeting microphthalmia transcription factor in melanocytes of alpaca. (27405515)
2016
26
Expanding the ocular phenotype of 14q terminal deletions: A novel presentation of microphthalmia and coloboma in ring 14 syndrome with associated 14q32.31 deletion and review of the literature. (26773965)
2016
27
Expression of microphthalmia transcription factor, S100 protein, and HMB-45 in malignant melanoma and pigmented nevi. (27602212)
2016
28
Scleral fixation of a posterior chamber intraocular lens combined with penetrating keratoplasty in an aphakic patient with microcornea and microphthalmia. (27053599)
2016
29
Inhibition of oncogenic BRAF activity by indole-3-carbinol disrupts microphthalmia-associated transcription factor expression and arrests melanoma cell proliferation. (26878440)
2016
30
Cooperative antiproliferative signaling by aspirin and indole-3-carbinol targets microphthalmia-associated transcription factor gene expression and promoter activity in human melanoma cells. (27055402)
2016
31
Development of an HTS-Compatible Assay for Discovery of Melanoma-Related Microphthalmia Transcription Factor Disruptors Using AlphaScreen Technology. (27827304)
2016
32
A Novel Mutation in OTX2 Causes Combined Pituitary Hormone Deficiency, Bilateral Microphthalmia, and Agenesis of the Left Internal Carotid Artery. (27299576)
2016
33
Two missense mutations in SALL4 in a patient with microphthalmia, coloboma, and optic nerve hypoplasia. (27661448)
2016
34
Pyruvate dehydrogenase has a major role in mast cell function, and its activity is regulated by mitochondrial microphthalmia transcription factor. (27871875)
2016
35
Microphthalmia-associated transcription factor ensures the elongation of axons and dendrites in the mouse frontal cortex. (27859996)
2016
36
Congenital Microphthalmia, Anophthalmia and Coloboma among Live Births in Denmark. (27552085)
2016
37
14q22.3 Microdeletion encompassing OTX2 in a five-generation family with microphthalmia, pituitary abnormalities, and intellectual disability. (26860946)
2016
38
G protein-coupled estrogen receptor enhances melanogenesis via cAMP-protein kinase (PKA) by upregulating microphthalmia-related transcription factor-tyrosinase in melanoma. (27378491)
2016
39
A novel role for microphthalmia-associated transcription factor-regulated pigment epithelium-derived factor during melanoma progression. (25447045)
2015
40
microRNA-155, Induced by Interleukin-1A9, Represses the Expression of Microphthalmia-Associated Transcription Factor (MITF-M) in Melanoma Cells. (25853464)
2015
41
Microphthalmia-associated transcription factor in melanoma development and MAP-kinase pathway targeted therapy. (25818589)
2015
42
Microphthalmia-associated transcription factor regulates skin melanoblast migration by repressing the melanoma cell adhesion molecule. (26284703)
2015
43
Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma. (26130484)
2015
44
Analysis of corneal topography in patients with pure microphthalmia in Eastern China. (26378068)
2015
45
Microphthalmia-associated transcription factor expression levels in melanoma cells contribute to cell invasion and proliferation. (25866058)
2015
46
The Intracellular Domain of Teneurin-1 Induces the Activity of Microphthalmia-associated Transcription Factor (MITF) by Binding to Transcriptional Repressor HINT1. (25648896)
2015
47
Microphthalmia transcription factor in malignant melanoma predicts occult sentinel lymph node metastases and survival. (26317170)
2015
48
Mutations in NDUFB11, Encoding a Complex I Component of the Mitochondrial Respiratory Chain, Cause Microphthalmia with Linear Skin Defects Syndrome. (25772934)
2015
49
Mutation analysis of the genes associated with anterior segment dysgenesis, microcornea and microphthalmia in 257 patients with glaucoma. (26310487)
2015
50
Melanogenesis-Inducing Effect of Cirsimaritin through Increases in Microphthalmia-Associated Transcription Factor and Tyrosinase Expression. (25903150)
2015

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
1eye photoreceptor cell developmentGO:004246211.0MFRP, PAX6
2dopaminergic neuron differentiationGO:007154211.0OTX2, PITX3
3negative regulation of myoblast differentiationGO:004566210.9BMP4, GDF3
4pulmonary valve morphogenesisGO:000318410.9BMP4, STRA6
5camera-type eye morphogenesisGO:004859310.9BMP4, TENM3
6primitive streak formationGO:009000910.9GDF3, OTX2
7smooth muscle tissue developmentGO:004874510.9BMP4, STRA6
8regulation of cell fate commitmentGO:001045310.8BMP4, GDF3
9telencephalon regionalizationGO:002197810.8BMP4, PAX6
10blood vessel developmentGO:000156810.8BMP4, PAX6, STRA6
11negative regulation of epithelial cell proliferationGO:005068010.8BMP4, PAX6, SOX2
12pituitary gland developmentGO:002198310.8BMP4, PAX6, SOX2
13positive regulation of pathway-restricted SMAD protein phosphorylationGO:001086210.7BMP4, GDF3, GDF6
14retina development in camera-type eyeGO:006004110.7BMP4, MFRP, PAX6
15SMAD protein signal transductionGO:006039510.7BMP4, GDF3, GDF6
16forebrain developmentGO:003090010.7BMP4, OTX2, PAX6, SOX2
17animal organ morphogenesisGO:000988710.6HCCS, PAX6, PITX3, SIX6
18eye developmentGO:000165410.6GDF3, PAX6, SIX6, SOX2
19regulation of gene expressionGO:001046810.5BMP4, PAX6, PITX3, SOX2
20camera-type eye developmentGO:004301010.5BMP4, PAX6, PRSS56, RAX, VAX1
21negative regulation of transcription from RNA polymerase II promoterGO:000012210.3BCOR, BMP4, MITF, PAX6, SOX2, VAX1
22positive regulation of transcription, DNA-templatedGO:004589310.2BMP4, GDF6, MITF, OTX2, PAX6, PITX3
23transcription from RNA polymerase II promoterGO:000636610.0MITF, OTX2, PAX6, PITX3, RAX, SIX6
24positive regulation of transcription from RNA polymerase II promoterGO:004594410.0BMP4, MITF, OTX2, PAX6, PITX3, RAX
25visual perceptionGO:00076019.7MFRP, PAX6, RAX, SIX6, VSX2

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:000122710.4MITF, PAX6, VAX1
2RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:000097810.4MITF, OTX2, PAX6, PITX3, RAX
3transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:000107710.1MITF, OTX2, PAX6, PITX3, RAX, SOX2
4transforming growth factor beta receptor bindingGO:000516010.0BMP4, GDF3, GDF6

Sources for Microphthalmia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet