MCID: MCR013
MIFTS: 53

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, prostate and breast, 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 463)
idRelated DiseaseScoreTop Affiliating Genes
1anophthalmos with limb anomalies32.4OTX2, PAX6, SOX2, VSX2
2coloboma, ocular30.5PAX6, SOX2
3microphthalmia, syndromic 112.5
4microphthalmia, syndromic 312.5
5microphthalmia, syndromic 912.5
6microphthalmia, syndromic 612.5
7microphthalmia, syndromic 812.5
8microphthalmia, syndromic 212.5
9microphthalmia, syndromic 512.4
10microphthalmia, isolated 512.4
11microphthalmia, isolated 612.4
12microphthalmia with coloboma 512.4
13microphthalmia, syndromic 1412.4
14microphthalmia, syndromic 1312.4
15microphthalmia, syndromic 1212.4
16microphthalmia with coloboma 312.4
17microphthalmia, isolated, with coloboma 712.4
18microphthalmia, isolated, with coloboma 912.4
19microphthalmia with coloboma 6, digenic12.4
20microphthalmia, syndromic 1112.4
21microphthalmia, isolated 212.4
22microphthalmia, isolated 812.4
23microphthalmia with limb anomalies12.4
24microphthalmia, isolated 412.4
25microphthalmia, isolated 712.4
26microphthalmia, isolated 312.4
27microcephaly microphthalmos blindness12.4
28microphthalmia, isolated 112.3
29chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia12.3
30microphthalmia, isolated, with coloboma 1012.3
31microphthalmia, syndromic 412.3
32microphthalmia syndromic 1012.2
33isolated microphthalmia12.2
34macrosomia with lethal microphthalmia12.2
35microphthalmia cataract12.2
36microphthalmia microtia fetal akinesia12.2
37colobomatous microphthalmia12.2
38arhinia choanal atresia microphthalmia12.2
39intellectual disability - athetosis - microphthalmia12.2
40microphthalmia with brain and digit anomalies12.2
41microphthalmia-ankyloblepharon-intellectual disability syndrome12.2
42cataract, congenital, with microcornea or slight microphthalmia12.1
43dextrocardia with unusual facies and microphthalmia12.1
44frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome12.1
45microphthalmia mental deficiency12.1
46microphthalmia with cataract 112.1
47anophthalmia/microphthalmia12.1
48colobomatous microphthalmia-rhizomelic dysplasia syndrome12.1
49linear skin defects with multiple congenital anomalies 112.1
50microphthalmia/anophthalmia/coloboma spectrum12.1

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, Prostate, Breast, Liver, Heart, Endothelial, Kidney

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 559)
idTitleAuthorsYear
1
Noncompaction in Duchenne Muscular Dystrophy. (27150890)
2016
2
The association between occurrence and severity of subclinical and clinical mastitis on pregnancies per artificial insemination at first service of Holstein cows. (25795486)
2015
3
Crowdfunding effort identifies the causative mutation in a patient with nystagmus, microcephaly, dystonia and hypomyelination. (25697102)
2015
4
Progesterone receptor gene (PROGINS) polymorphism correlates with late onset of migraine. (25494303)
2015
5
HLA-DRB1*07:01 is associated with a higher risk of asparaginase allergies. (24970932)
2014
6
Complete stable remission and autoantibody specificity in myasthenia gravis. (23255823)
2013
7
A single-blinded randomized clinical trial comparing polymyxin B-trimethoprim and moxifloxacin for treatment of acute conjunctivitis in children. (23092529)
2013
8
The long-term psychosocial impact of corrective surgery for adults with strabismus. (23410730)
2013
9
Recommended strategies for epidermolysis bullosa management in romania. (24371486)
2013
10
Virtual rehabilitation in a school setting: is it feasible for children with cerebral palsy? (24001213)
2013
11
Fatigue and daytime sleepiness scale in myotonic dystrophy type 1. (23042586)
2013
12
KIF14 negatively regulates Rap1a-Radil signaling during breast cancer progression. (23209302)
2012
13
Phase II study of gefitinib adaptive dose escalation to skin toxicity in recurrent or metastatic squamous cell carcinoma of the head and neck. (22513208)
2012
14
Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2. (22053997)
2011
15
Effect of donor-recipient HLA matching at HLA A, B, C, and DRB1 on outcomes after umbilical-cord blood transplantation for leukaemia and myelodysplastic syndrome: a retrospective analysis. (21982422)
2011
16
Epidermoid cyst masquerading as dacryocystocele: case report and review. (21438735)
2011
17
A Ga89T splice site mutation of CRYBA1/A3 associated with autosomal dominant suture cataracts in a Chinese family. (21850182)
2011
18
Cost-effectiveness of primary prophylaxis of AIDS associated cryptococcosis in Cambodia. (21085478)
2010
19
Exercise training in patients with ischemic heart disease works but more high-quality studies are wanted ... (20653927)
2010
20
Adenosine A(2A) receptor mediates microglial process retraction. (19525944)
2009
21
Clinical management of Rendu-Osler-Weber syndrome and genetic thrombophilia. (20519971)
2009
22
Structure-function relationship of tumor necrosis factor (TNF) and its receptor interaction based on 3D structural analysis of a fully active TNFR1-selective TNF mutant. (19084540)
2009
23
Dysbindin-1, a schizophrenia-related protein, functionally interacts with the DNA-dependent protein kinase complex in an isoform-dependent manner. (19142223)
2009
24
Commentary on 'Pamidronate: treatment for severe hypercalcemia in neonatal subcutaneous fat necrosis' by Alos N. et al., Hormone Research 2006;65:289-294. (18772600)
2008
25
Causative agents of canine babesiosis in Brazil. (17980446)
2008
26
The inflammatory caspases: guardians against infections and sepsis. (16977333)
2007
27
Intranuclear immunolocalization of 14-3-3 protein isoforms in brains with spinocerebellar ataxia type 1. (17224237)
2007
28
Suppressive effects of demethylated metabolites of nobiletin on phorbol ester-induced expression of scavenger receptor genes in THP-1 human monocytic cells. (18806314)
2007
29
Renal tubular drug transporters. (16554667)
2006
30
Synthesis and biological evaluation of chromone carboxamides as calpain inhibitors. (15911268)
2005
31
Molecular mechanisms of mammalian DNA repair and the DNA damage checkpoints. (15189136)
2004
32
CA125 levels are a weak predictor of optimal cytoreductive surgery in patients with advanced epithelial ovarian cancer. (12657110)
2003
33
Defining complex contributions of NOD2/CARD15 gene mutations, age at onset, and tobacco use on Crohn's disease phenotypes. (14555911)
2003
34
Pegylation: engineering improved biopharmaceuticals for oncology. (12921216)
2003
35
Encapsulation of c-myc antisense oligodeoxynucleotides in lipid particles improves antitumoral efficacy in vivo in a human melanoma line. (11498766)
2001
36
Compartment-specific isoforms of TPI and GAPDH are imported into diatom mitochondria as a fusion protein: evidence in favor of a mitochondrial origin of the eukaryotic glycolytic pathway. (10677844)
2000
37
Expression of cyclin-dependent kinase inhibitor p15(INK4B) during normal and leukemic myeloid differentiation. (10812241)
2000
38
Cultures of astrocytes and microglia express interleukin 18. (10101231)
1999
39
The eosinophilia-myalgia syndrome and the toxic oil syndrome. Pursuing parallels. (8906286)
1996
40
Structure of the PI3K SH3 domain and analysis of the SH3 family. (7681364)
1993
41
Saethre-Chotzen syndrome with trigonocephaly. (1481819)
1992
42
Size of the fetal adrenal in bilateral renal agenesis. (2196498)
1990
43
Chickenpox: where do we stand with treatment? (2319406)
1990
44
Two human cDNA molecules coding for the Duchenne muscular dystrophy (DMD) locus are highly homologous. (2668885)
1989
45
Intraoperative evaluation of atrioventricular septal defect repair by color flow mapping echocardiography. (2802855)
1989
46
How prevalent is amebiasis? (3194328)
1988
47
Unusual echocardiographic appearance of intracardiac thrombi in a patient with endomyocardial fibrosis. (3730220)
1986
48
X-linked hypomaturation amelogenesis imperfecta: a case report. (6932309)
1980
49
Periarteritis nodosa. (20251586)
1947
50
Mooren's Ulcer of the Cornea: A Histologic Report. (16692528)
1920

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