MCID: MCR013
MIFTS: 57

Microphthalmia malady

Categories: Rare diseases, Eye diseases, Fetal diseases

Aliases & Classifications for Microphthalmia

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Sources:
11Disease Ontology, 46NIH Rare Diseases, 24Genetics Home Reference, 13DISEASES, 48Novoseek, 25GTR, 37MeSH, 52Orphanet, 28ICD10, 30ICD9CM, 43NCIt, 66UMLS, 29ICD10 via Orphanet, 60SNOMED-CT
See all MalaCards sources

Aliases & Descriptions for Microphthalmia:

Name: Microphthalmia 11 46 24 13 48
Microphthalmos 11 24 25 37
Nanophthalmia 11 52
Microphthalmia-Anophthalmia-Coloboma Spectrum 46
Isolated Anophthalmia-Microphthalmia Syndrome 46
Isolated Anophthalmia - Microphthalmia 46
 
Isolated Pure Microphthalmia 46
Primitive Anophthalmia 46
Clinical Anophthalmia 46
Simple Microphthalmos 11
Nanophthalmos 11
Mac Spectrum 46

Characteristics:

Orphanet epidemiological data:

52
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
ICD1028 Q11.2
MeSH37 D008850
NCIt43 C98989
Orphanet52 ORPHA35612
ICD10 via Orphanet29 Q11.2

Summaries for Microphthalmia

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Genetics Home Reference:24 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 with coloboma 6, digenic and microphthalmia, isolated 4, 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 TGF-beta Signaling Pathway (sino). Affiliated tissues include eye, skin and heart, and related mouse phenotypes are pigmentation and hearing/vestibular/ear.

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

Wikipedia:69 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 224)
idRelated DiseaseScoreTop Affiliating Genes
1microphthalmia with coloboma 6, digenic34.0GDF3, GDF6
2microphthalmia, isolated 434.0GDF3, GDF6
3esophageal atresia30.9GDF3, STRA6
4microphthalmia, syndromic 112.2
5microphthalmia, syndromic 612.1
6microphthalmia, syndromic 312.1
7microphthalmia, syndromic 912.1
8microphthalmia with limb anomalies12.1
9microphthalmia, syndromic 812.1
10microphthalmia, syndromic 212.1
11microphthalmia, syndromic 512.1
12microphthalmia, isolated 512.1
13chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia12.1
14microphthalmia, syndromic 1412.1
15microphthalmia, syndromic 1312.0
16microphthalmia, isolated 612.0
17microphthalmia, isolated, with coloboma 712.0
18microphthalmia with coloboma 512.0
19microphthalmia, syndromic 1212.0
20microphthalmia with coloboma 312.0
21microphthalmia, isolated, with coloboma 912.0
22microphthalmia, isolated 212.0
23microphthalmia, isolated 812.0
24microphthalmia, syndromic 1112.0
25isolated microphthalmia12.0
26fryns microphthalmia syndrome12.0
27arhinia, choanal atresia, and microphthalmia12.0
28microcephaly microphthalmos blindness12.0
29microphthalmia, isolated 712.0
30microphthalmia, isolated 312.0
31microphthalmia cataract12.0
32colobomatous microphthalmia11.9
33anophthalmia/microphthalmia11.9
34microphthalmia, syndromic 411.9
35microphthalmia, isolated 111.9
36microphthalmia, isolated, with coloboma 1011.9
37microphthalmia, syndromic 1011.9
38macrosomia with microphthalmia, lethal11.8
39microphthalmia microtia fetal akinesia11.8
40microphthalmia with cataract 111.8
41dextrocardia with unusual facies and microphthalmia11.8
42intellectual disability - athetosis - microphthalmia11.8
43cataract, congenital, with microcornea or slight microphthalmia11.8
44microphthalmia mental deficiency11.8
45linear skin defects with multiple congenital anomalies 111.7
46microphthalmia/anophthalmia/coloboma spectrum11.7
47microphthalmia associated with colobomatous cyst11.7
48bcor-related lenz microphthalmia syndrome11.7
49rax-related anophthalmia/microphthalmia11.7
50cataract 11, multiple types11.1

Graphical network of the top 20 diseases related to Microphthalmia:



Diseases related to microphthalmia

Symptoms for Microphthalmia

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Symptoms:

 52
  • strabismus
  • glaucoma
  • microphthalmos
  • abnormality of the choroid
  • abnormal retinal pigmentation
  • high-grade hypermetropia

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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Genetic tests related to Microphthalmia:

id Genetic test Affiliating Genes
1 Microphthalmos25

Anatomical Context for Microphthalmia

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MalaCards organs/tissues related to Microphthalmia:

34
Eye, Skin, Heart, Retina, Bone, Pituitary, Myeloid

Animal Models for Microphthalmia or affiliated genes

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MGI Mouse Phenotypes related to Microphthalmia:

39 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000118610.3MFRP, MITF, OTX2, SOX2, STRA6, VSX2
2MP:000537710.2BMP4, GDF6, MITF, OTX2, RARB, SOX2
3MP:00053829.6ALDH1A3, BMP4, GDF6, MITF, OTX2, RARB
4MP:00053799.5ALDH1A3, BMP4, MITF, OTX2, RARB, SIX6
5MP:00053909.5ALDH1A3, BMP4, GDF6, MITF, OTX2, RARB
6MP:00028739.4ALDH1A3, BMP4, GDF3, HCCS, MITF, OTX2
7MP:00053809.3ALDH1A3, BCOR, BMP4, GDF3, HCCS, MITF
8MP:00053918.7ALDH1A3, BMP4, GDF6, MFRP, MITF, OTX2
9MP:00053788.6ALDH1A3, BCOR, BMP4, GDF3, GDF6, HCCS
10MP:00036318.6BCOR, BMP4, GDF6, MFRP, MITF, OTX2
11MP:00107688.5ALDH1A3, BCOR, BMP4, GDF3, GDF6, HCCS

Publications for Microphthalmia

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Articles related to Microphthalmia:

(show top 50)    (show all 591)
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
1264074060000009500000Copy 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 22)
idNameGO IDScoreTop Affiliating Genes
1primitive streak formationGO:009000910.9GDF3, OTX2
2pulmonary valve morphogenesisGO:000318410.8BMP4, STRA6
3regulation of cell fate commitmentGO:001045310.8BMP4, GDF3
4embryonic eye morphogenesisGO:004804810.8ALDH1A3, RARB
5outflow tract septum morphogenesisGO:000314810.8BMP4, RARB
6camera-type eye morphogenesisGO:004859310.7BMP4, TENM3
7embryonic digestive tract developmentGO:004856610.7RARB, STRA6
8negative regulation of chondrocyte differentiationGO:003233110.6BMP4, RARB
9SMAD protein signal transductionGO:006039510.6BMP4, GDF3, GDF6
10smooth muscle tissue developmentGO:004874510.6BMP4, STRA6
11negative regulation of myoblast differentiationGO:004566210.6BMP4, GDF3
12positive regulation of pathway-restricted SMAD protein phosphorylationGO:001086210.5BMP4, GDF3, GDF6
13eye developmentGO:000165410.5GDF3, SIX6, SOX2
14camera-type eye developmentGO:004301010.4BMP4, PRSS56, RAX, VAX1
15positive regulation of neuron differentiationGO:004566610.2BMP4, GDF6, RARB
16forebrain developmentGO:003090010.2BMP4, OTX2, SOX2
17positive regulation of transcription, DNA-templatedGO:004589310.1BMP4, GDF6, MITF, OTX2, SOX2
18retina development in camera-type eyeGO:006004110.0BMP4, MFRP, RARB
19transcription from RNA polymerase II promoterGO:000636610.0MITF, OTX2, RAX, SIX6, SOX2
20visual perceptionGO:00076019.9MFRP, RAX, SIX6, VSX2
21negative regulation of transcription from RNA polymerase II promoterGO:00001229.4BCOR, BMP4, MITF, RARB, SOX2, VAX1
22positive regulation of transcription from RNA polymerase II promoterGO:00459449.1BMP4, MITF, OTX2, RARB, RAX, SIX6

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
2transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010779.9MITF, OTX2, RAX, SOX2

Sources for Microphthalmia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet