MCID: MCR013
MIFTS: 60

Microphthalmia malady

Categories: Rare diseases, Eye diseases, Fetal diseases

Aliases & Classifications for Microphthalmia

Aliases & Descriptions for Microphthalmia:

Name: Microphthalmia 12 50 25 29 52 14
Microphthalmos 12 25 29 42
Nanophthalmia 12 56
Isolated Anophthalmia-Microphthalmia Syndrome 50
Microphthalmia-Anophthalmia-Coloboma Spectrum 50
Isolated Anophthalmia - Microphthalmia 50
Isolated Pure Microphthalmia 50
Primitive Anophthalmia 50
Simple Microphthalmos 12
Clinical Anophthalmia 50
Nanophthalmos 12
Mac Spectrum 50

Characteristics:

Orphanet epidemiological data:

56
nanophthalmia
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:



External Ids:

Disease Ontology 12 DOID:10629
ICD10 33 Q11.2
MeSH 42 D008850
NCIt 47 C98989
Orphanet 56 ORPHA35612
ICD10 via Orphanet 34 Q11.2
UMLS 69 C0026010

Summaries for Microphthalmia

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, syndromic 1 and microphthalmia, syndromic 3, and has symptoms including abnormality of retinal pigmentation, strabismus and glaucoma. An important gene associated with Microphthalmia is MFRP (Membrane Frizzled-Related Protein), and among its related pathways/superpathways are Mesodermal Commitment Pathway and Wnt Signaling Pathways: beta-Catenin-independent Wnt/Ca2+ Signaling and Other Non-canonical Wnt Signaling Pathways. Affiliated tissues include eye, skin and heart, and related phenotypes are Increased shRNA abundance (Z-score > 2) and growth/size/body region

Disease Ontology : 12 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

Diseases related to Microphthalmia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 236)
id Related Disease Score Top Affiliating Genes
1 microphthalmia, syndromic 1 12.2
2 microphthalmia, syndromic 3 12.1
3 microphthalmia with limb anomalies 12.1
4 microphthalmia, syndromic 9 12.1
5 microphthalmia, syndromic 6 12.1
6 microphthalmia, isolated 5 12.1
7 arhinia, choanal atresia, and microphthalmia 12.1
8 microphthalmia, syndromic 8 12.1
9 microphthalmia, syndromic 2 12.1
10 microphthalmia, syndromic 5 12.1
11 microphthalmia, syndromic 14 12.1
12 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 12.0
13 microphthalmia, syndromic 13 12.0
14 microphthalmia, syndromic 12 12.0
15 microphthalmia, syndromic 11 12.0
16 microphthalmia, isolated 6 12.0
17 microphthalmia, isolated 2 12.0
18 microphthalmia, isolated 8 12.0
19 microphthalmia with coloboma 3 12.0
20 microphthalmia, isolated 4 12.0
21 microphthalmia, isolated 7 12.0
22 microphthalmia, isolated 3 12.0
23 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness 12.0
24 microphthalmia, isolated 1 12.0
25 microphthalmia with coloboma 5 12.0
26 microphthalmia with coloboma 6, digenic 12.0
27 microphthalmia, isolated, with coloboma 9 12.0
28 microphthalmia, isolated, with coloboma 7 12.0
29 fryns microphthalmia syndrome 11.9
30 microphthalmia, isolated, with coloboma 10 11.9
31 isolated microphthalmia 11.9
32 colobomatous microphthalmia 11.9
33 microcephaly microphthalmos blindness 11.8
34 anophthalmia/microphthalmia 11.8
35 microphthalmia, syndromic 4 11.8
36 linear skin defects with multiple congenital anomalies 1 11.8
37 lenz microphthalmia syndromic 11.7
38 microphthalmia, syndromic 10 11.7
39 macrosomia with microphthalmia, lethal 11.7
40 microphthalmia microtia fetal akinesia 11.7
41 bcor-related lenz microphthalmia syndrome 11.7
42 naa10-related lenz microphthalmia syndrome 11.7
43 microphthalmia with cataract 1 11.7
44 dextrocardia with unusual facies and microphthalmia 11.6
45 intellectual disability - athetosis - microphthalmia 11.6
46 cataract, congenital, with microcornea or slight microphthalmia 11.6
47 frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome 11.6
48 microphthalmia/anophthalmia/coloboma spectrum 11.6
49 microphthalmia associated with colobomatous cyst 11.6
50 rax-related anophthalmia/microphthalmia 11.6

Graphical network of the top 20 diseases related to Microphthalmia:



Diseases related to Microphthalmia

Symptoms & Phenotypes for Microphthalmia

Human phenotypes related to Microphthalmia:

56 32 (show all 6)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of retinal pigmentation 56 32 Occasional (29-5%) HP:0007703
2 strabismus 56 32 Very frequent (99-80%) HP:0000486
3 microphthalmia 56 32 Very frequent (99-80%) HP:0000568
4 glaucoma 56 32 Very frequent (99-80%) HP:0000501
5 abnormality of the choroid 56 32 Very frequent (99-80%) HP:0000610
6 high-grade hypermetropia 56 32 Very frequent (99-80%) HP:0008499

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.78 MITF
2 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.78 HCCS
3 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.78 VSX2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-125 9.78 OTX2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.78 MITF
6 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.78 MITF
7 Increased shRNA abundance (Z-score > 2) GR00366-A-135 9.78 MITF
8 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.78 HCCS
9 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.78 VSX2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.78 HCCS
11 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.78 OTX2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.78 BCOR
13 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.78 OTX2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.78 OTX2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.78 MITF
16 Increased shRNA abundance (Z-score > 2) GR00366-A-210 9.78 BCOR
17 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.78 MITF OTX2 VSX2 BCOR HCCS
18 Increased shRNA abundance (Z-score > 2) GR00366-A-22 9.78 MITF
19 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.78 BCOR
20 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.78 HCCS
21 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.78 HCCS
22 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.78 HCCS
23 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.78 BCOR
24 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.78 VSX2
25 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.78 OTX2

MGI Mouse Phenotypes related to Microphthalmia:

44 (show all 14)
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.38 TYRP1 GDF3 GDF6 HCCS MITF OTX2
2 mortality/aging MP:0010768 10.31 ALDH1A3 BCOR BMP4 GDF3 GDF6 HCCS
3 nervous system MP:0003631 10.31 TYRP1 VSX2 BCOR BMP4 GDF6 MFRP
4 embryo MP:0005380 10.29 ALDH1A3 BCOR BMP4 GDF3 HCCS MITF
5 cellular MP:0005384 10.28 HCCS MITF OTX2 PAX6 PITX3 RAX
6 craniofacial MP:0005382 10.26 ALDH1A3 BMP4 GDF6 MITF OTX2 PAX6
7 endocrine/exocrine gland MP:0005379 10.19 BMP4 MITF OTX2 PAX6 PITX3 SIX6
8 hearing/vestibular/ear MP:0005377 10.06 BMP4 GDF6 MITF OTX2 PAX6 SOX2
9 normal MP:0002873 10.02 ALDH1A3 BMP4 GDF3 HCCS MITF OTX2
10 no phenotypic analysis MP:0003012 9.97 BMP4 MITF PITX3 RAX SOX2 STRA6
11 pigmentation MP:0001186 9.96 MFRP MITF OTX2 PAX6 PITX3 SOX2
12 reproductive system MP:0005389 9.81 BMP4 MITF OTX2 PAX6 PITX3 SOX2
13 skeleton MP:0005390 9.7 SOX2 STRA6 TYR TYRP1 ALDH1A3 BMP4
14 vision/eye MP:0005391 9.53 SOX2 STRA6 TYR TYRP1 VSX2 ALDH1A3

Drugs & Therapeutics for Microphthalmia

Interventional clinical trials:


id Name Status NCT ID Phase
1 Phase 2 Study in Patients With MiT Tumors Completed NCT00557609 Phase 2
2 Long-term Postoperative Outcomes After Bilateral Congenital Cataract Surgery in Eyes With Microphthalmos Completed NCT01818037
3 Molecular Analysis of Microphthalmia/Anophthalmia Completed NCT00011843
4 Fundus Changes in the Microphthalmy Eyes Completed NCT00811512
5 Quality of Life in Children Glaucoma and Cataract Completed NCT02490267
6 Study of Selected X-Linked Disorders: Aicardi Syndrome Recruiting NCT00697411

Search NIH Clinical Center for Microphthalmia

Cochrane evidence based reviews: microphthalmos

Genetic Tests for Microphthalmia

Genetic tests related to Microphthalmia:

id Genetic test Affiliating Genes
1 Microphthalmos 29
2 Microphthalmia 29

Anatomical Context for Microphthalmia

MalaCards organs/tissues related to Microphthalmia:

39
Eye, Skin, Heart, Bone, Pituitary, Retina, Myeloid

Publications for Microphthalmia

Articles related to Microphthalmia:

(show top 50) (show all 609)
id Title Authors Year
1
The master role of microphthalmia-associated transcription factor in melanocyte and melanoma biology. ( 28263292 )
2017
2
Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: phenotypes linked by truncating variants in NDUFB11. ( 28050600 )
2017
3
Clinical utility gene card for: Non-Syndromic Microphthalmia Including Next-Generation Sequencing-Based Approaches. ( 28098148 )
2017
4
Genetic analysis of SOX2 and VSX2 genes in 27 Egyptian families with anophthalmia and microphthalmia. ( 28121235 )
2017
5
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. ( 28067909 )
2017
6
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development. ( 28067911 )
2017
7
Image-guided lacrimal drainage surgery in congenital arhinia-microphthalmia syndrome. ( 28272904 )
2017
8
Characterizing the Coding Region Determinant-Binding Protein (CRD-BP)-Microphthalmia-associated Transcription Factor (MITF) mRNA interaction. ( 28182633 )
2017
9
Anti-melanogenic activity of phytosphingosine via the modulation of the microphthalmia-associated transcription factor signaling pathway. ( 28390782 )
2017
10
LRP5-linked osteoporosis-pseudoglioma syndrome mimicking isolated microphthalmia. ( 28111184 )
2017
11
Intrafamilial variability in syndromic microphthalmia type 5 caused by a novel variation in OTX2. ( 28388256 )
2017
12
An eye on microphthalmia. ( 28116824 )
2017
13
Trends over time in the incidence of congenital anophthalmia, microphthalmia and orbital malformation in England: database study. ( 27601422 )
2016
14
Digital evaluation of orbital development after self-inflating hydrogel expansion in Chinese children with congenital microphthalmia. ( 26923661 )
2016
15
Microphthalmia-associated transcription factor regulates the visual cycle genes Rlbp1 and Rdh5 in the retinal pigment epithelium. ( 26876013 )
2016
16
Expression of microphthalmia transcription factor, S100 protein, and HMB-45 in malignant melanoma and pigmented nevi. ( 27602212 )
2016
17
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
18
Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness. ( 27889061 )
2016
19
Development of an HTS-Compatible Assay for Discovery of Melanoma-Related Microphthalmia Transcription Factor Disruptors Using AlphaScreen Technology. ( 27827304 )
2016
20
Suppression of microphthalmia-associated transcription factor, but not NF-kappa B sensitizes melanoma specific cell death. ( 27325430 )
2016
21
The Microphthalmia-Associated Transcription Factor p.E318K Mutation Does Not Play a Major Role in Sporadic Renal Cell Tumors from Caucasian Patients. ( 26999813 )
2016
22
14q22.3 Microdeletion encompassing OTX2 in a five-generation family with microphthalmia, pituitary abnormalities, and intellectual disability. ( 26860946 )
2016
23
Role of microRNA508-3p in melanogenesis by targeting microphthalmia transcription factor in melanocytes of alpaca. ( 27405515 )
2016
24
Autopsy Case of Bilateral Optic Nerve Aplasia with Microphthalmia: Neural Retina Formation Is Required for the Coordinated Development of Ocular Tissues. ( 27094838 )
2016
25
Central Corneal Thickness in Aphakic Children With Microcornea-Microphthalmia. ( 27253817 )
2016
26
Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia. ( 27103084 )
2016
27
A novel OTX2 gene frameshift mutation in a child with microphthalmia, ectopic pituitary and growth hormone deficiency. ( 26974134 )
2016
28
Microphthalmia-associated transcription factor suppresses invasion by reducing intracellular GTP pools. ( 27181209 )
2016
29
Two missense mutations in SALL4 in a patient with microphthalmia, coloboma, and optic nerve hypoplasia. ( 27661448 )
2016
30
A Novel Mutation in OTX2 Causes Combined Pituitary Hormone Deficiency, Bilateral Microphthalmia, and Agenesis of the Left Internal Carotid Artery. ( 27299576 )
2016
31
Congenital Microphthalmia, Anophthalmia and Coloboma among Live Births in Denmark. ( 27552085 )
2016
32
Inhibition of oncogenic BRAF activity by indole-3-carbinol disrupts microphthalmia-associated transcription factor expression and arrests melanoma cell proliferation. ( 26878440 )
2016
33
Scleral fixation of a posterior chamber intraocular lens combined with penetrating keratoplasty in an aphakic patient with microcornea and microphthalmia. ( 27053599 )
2016
34
Genetic Advances in Microphthalmia. ( 27895970 )
2016
35
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
36
An unusual presentation of Kabuki syndrome with orbital cysts, microphthalmia, and cholestasis with bile duct paucity. ( 27530281 )
2016
37
Microphthalmia-associated transcription factor ensures the elongation of axons and dendrites in the mouse frontal cortex. ( 27859996 )
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
Bosma arhinia microphthalmia syndrome: Clinical report and review of the literature. ( 26842768 )
2016
40
Campylorrhinus lateralis, Bilateral microphthalmia and odontoma temporalis in an Oldenburg Foal. ( 26825866 )
2016
41
Suppression of Melanin Synthesis by Americanin A in Melan-a cells via Regulation of Microphthalmia-Associated Transcription Factor. ( 26997427 )
2016
42
Pyruvate dehydrogenase has a major role in mast cell function, and its activity is regulated by mitochondrial microphthalmia transcription factor. ( 27871875 )
2016
43
Mandibular dysostosis without microphthalmia caused by OTX2 deletion. ( 27378064 )
2016
44
Abnormal corneal epithelial maintenance in mice heterozygous for the micropinna microphthalmia mutation Mp. ( 27235794 )
2016
45
A Unique Case of Bilateral Microphthalmia that May Be Related to 14q32.33. ( 26730854 )
2016
46
Anti-melanogenic effect of americanin A is associated with regulation of microphthalmia-associated transcription factor. ( 27975637 )
2016
47
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
48
Mutation analysis of the genes associated with anterior segment dysgenesis, microcornea and microphthalmia in 257 patients with glaucoma. ( 26310487 )
2015
49
Meis1 coordinates a network of genes implicated in eye development and microphthalmia. ( 26253404 )
2015
50
Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma. ( 26046913 )
2015

Variations for Microphthalmia

Copy number variations for Microphthalmia from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 264074 X 6000000 9500000 Copy number Microphthalmia

Expression for Microphthalmia

Search GEO for disease gene expression data for Microphthalmia.

Pathways for Microphthalmia

GO Terms for Microphthalmia

Cellular components related to Microphthalmia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 melanosome membrane GO:0033162 8.62 TYR TYRP1

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

(show all 27)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.91 BMP4 GDF6 MITF OTX2 PAX6 PITX3
2 regulation of gene expression GO:0010468 9.88 BMP4 PAX6 PITX3 SOX2
3 transcription from RNA polymerase II promoter GO:0006366 9.87 MITF OTX2 PAX6 PITX3 RAX SIX6
4 animal organ morphogenesis GO:0009887 9.78 HCCS PAX6 PITX3 SIX6
5 SMAD protein signal transduction GO:0060395 9.74 BMP4 GDF3 GDF6
6 negative regulation of epithelial cell proliferation GO:0050680 9.73 BMP4 PAX6 SOX2
7 blood vessel development GO:0001568 9.71 BMP4 PAX6 STRA6
8 forebrain development GO:0030900 9.71 BMP4 OTX2 PAX6 SOX2
9 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.7 BMP4 GDF3 GDF6
10 pigmentation GO:0043473 9.67 MITF TYR TYRP1
11 negative regulation of myoblast differentiation GO:0045662 9.63 BMP4 GDF3
12 pituitary gland development GO:0021983 9.63 BMP4 PAX6 SOX2
13 negative regulation of neurogenesis GO:0050768 9.62 PAX6 PITX3
14 melanocyte differentiation GO:0030318 9.62 MITF TYRP1
15 eye photoreceptor cell development GO:0042462 9.61 MFRP PAX6
16 melanin biosynthetic process GO:0042438 9.61 TYR TYRP1
17 primitive streak formation GO:0090009 9.6 GDF3 OTX2
18 smooth muscle tissue development GO:0048745 9.59 BMP4 STRA6
19 pulmonary valve morphogenesis GO:0003184 9.58 BMP4 STRA6
20 camera-type eye development GO:0043010 9.56 BMP4 PAX6 PRSS56 RAX
21 telencephalon regionalization GO:0021978 9.55 BMP4 PAX6
22 regulation of cell fate commitment GO:0010453 9.51 BMP4 GDF3
23 eye development GO:0001654 9.46 GDF3 PAX6 SIX6 SOX2
24 visual perception GO:0007601 9.43 MFRP PAX6 RAX SIX6 TYR VSX2
25 multicellular organism development GO:0007275 9.36 BMP4 GDF3 GDF6 MITF OTX2 PAX6
26 regulation of transcription, DNA-templated GO:0006355 10.28 BCOR MITF OTX2 PAX6 PITX3 RAX
27 positive regulation of transcription from RNA polymerase II promoter GO:0045944 10.03 BMP4 MITF OTX2 PAX6 PITX3 RAX

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

id Name GO ID Score Top Affiliating Genes
1 transcription factor activity, sequence-specific DNA binding GO:0003700 9.8 MITF OTX2 PAX6 PITX3 RAX SOX2
2 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000978 9.65 MITF OTX2 PAX6 PITX3 RAX
3 sequence-specific DNA binding GO:0043565 9.63 OTX2 PAX6 PITX3 RAX SOX2 VSX2
4 transforming growth factor beta receptor binding GO:0005160 9.13 BMP4 GDF3 GDF6
5 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0001077 9.1 MITF OTX2 PAX6 PITX3 RAX SOX2

Sources for Microphthalmia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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