Categories: Eye diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Microphthalmia

MalaCards integrated aliases for Microphthalmia:

Name: Microphthalmia 12 75 53 25 37 29 55 6 15 40 17
Microphthalmos 12 25 44 33
Isolated Anophthalmia-Microphthalmia Syndrome 53 59 6
Nanophthalmos 12 37 6
Isolated Microphthalmia-Anophthalmia-Coloboma 53 59
Microphthalmia-Anophthalmia-Coloboma Spectrum 53 59
Nanophthalmia 12 59
Mac Spectrum 53 59
Isolated Anophthalmia - Microphthalmia 53
Isolated Pure Microphthalmia 53
Primitive Anophthalmia 53
Simple Microphthalmos 12
Clinical Anophthalmia 53


Orphanet epidemiological data:

isolated microphthalmia-anophthalmia-coloboma
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;


External Ids:

Disease Ontology 12 DOID:10629
MeSH 44 D008850
NCIt 50 C98989
SNOMED-CT 68 61142002
ICD10 33 Q11.2
ICD10 via Orphanet 34 Q11.0 Q11.1 Q11.2
UMLS 72 C0026010

Summaries for Microphthalmia

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2542DefinitionA disorder that describes, respectively, the absence of an eye and the presence of a small eye within the orbit.EpidemiologyThe combined birth prevalence of these conditions is as high as 1/33,000, with microphthalmia reported in up to 11% of blind children.Clinical descriptionHigh-resolution cranial imaging, post-mortem examination and genetic studies suggest that these conditions represent a phenotypic continuum. Both anophthalmia and microphthalmia may occur in isolation or as part of a syndrome, as in one-third of cases.EtiologyAnophthalmia - microphthalmia have complex aetiologies with chromosomal, monogenic and environmental causes identified. Chromosomal duplications, deletions and translocations are implicated. Of the monogenic causes, only SOX2 has been identified as a major causative gene. Other linked genes include PAX6, OTX2, CHX10 and RAX. SOX2 and PAX6 mutations may act by causing lens induction failure. FOXE3 mutations, associated with lens agenesis, have been observed in a few microphthalmic patients. OTX2, CHX10 and RAX have retinal expression and may result in anophthalmia - microphthalmia through failure of retinal differentiation. Environmental factors also play a contributory role. The strongest evidence appears to be with gestational-acquired infections, but may also include maternal vitamin A deficiency, exposure to X-rays, solvent misuse and thalidomide exposure.Diagnostic methodsDiagnosis can be made pre- and postnatally using a combination of clinical features, imaging (ultrasonography and CT / MR scanning) and genetic analysis.Differential diagnosisDifferential diagnoses include cryptophthalmos, cyclopia and synophthalmia, and congenital cystic eye.Genetic counselingGenetic counselling can be challenging due to the extensive range of genes responsible and wide variation in phenotypic expression. Appropriate counselling is indicated if the mode of inheritance can be identified.Management and treatmentPatients are often managed within multidisciplinary teams consisting of ophthalmologists, paediatricians and/or clinical geneticists, especially for syndromic cases. Treatment is directed towards maximising existing vision and improving cosmesis through simultaneous stimulation of both soft tissue and bony orbital growth. Mild to moderate microphthalmia is managed conservatively with conformers. Severe microphthalmia and anophthalmia rely upon additional remodelling strategies of endoorbital volume replacement (with implants, expanders and dermis-fat grafts) and soft tissue reconstruction.PrognosisThe potential for visual development in microphthalmic patients is dependent upon retinal development and other ocular characteristics.Visit the Orphanet disease page for more resources.

MalaCards based summary : Microphthalmia, also known as microphthalmos, is related to microphthalmia, syndromic 3 and microphthalmia, isolated 6. An important gene associated with Microphthalmia is PAX6 (Paired Box 6), and among its related pathways/superpathways are Mesodermal Commitment Pathway and Signaling pathways regulating pluripotency of stem cells. Affiliated tissues include eye, skin and retina, and related phenotypes are strabismus and microphthalmia

Disease Ontology : 12 An eye disease where one or both eyeballs are abnormally small.

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. People with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or in the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision. People with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved. Between one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When microphthalmia occurs by itself, it is described as nonsyndromic or isolated.

KEGG : 37
Anophthalmia and/or microphthalmia (A/M) can be defined as an absence or reduced size of the globe in the orbit. Anophthalmia refers to complete absence of the globe in the presence of ocular adnexae. Microphthalmia is defined as a globe with a total axial length that is at least two standard deviations below the mean for age. Coloboma, or a defect in the closure of the choroid fissure, is most common ocular malformation associated with microphthalmia. Coloboma is considered to be part of the A/M spectrum. A/M can be isolated, associated other anomalies or part of a well defined syndrome. A/M have complex aetiology with chromosomal, monogenic and environmental causes identified.

Wikipedia : 75 Microphthalmia (Greek: ?????? mikros = small; ???????? ophthalmos = eye), also referred as... more...

Related Diseases for Microphthalmia

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

(show top 50) (show all 638)
# Related Disease Score Top Affiliating Genes
1 microphthalmia, syndromic 3 35.4 SOX2 SIX6
2 microphthalmia, isolated 6 35.3 VSX2 PRSS56 MFRP
3 fryns microphthalmia syndrome 35.2 VSX2 SOX2 PAX6 OTX2
4 microphthalmia, isolated 1 35.2 VSX2 SOX2 MITF MFRP
5 microphthalmia, isolated, with coloboma 6 34.9 GDF6 GDF3
6 colobomatous microphthalmia 34.9 VSX2 STRA6 RBP4 GDF6 GDF3
7 coloboma of macula 34.2 VSX2 TFAP2A STRA6 SOX2 RBP4 PAX6
8 coloboma, ocular, autosomal dominant 32.3 RBP4 PAX6
9 sclerocornea 31.8 RAX HCCS
10 amblyopia 31.7 TFAP2A PRSS56 MFRP
11 coloboma of iris 31.5 TFAP2A PAX6
12 orbital cyst 31.4 SOX2 GDF3
13 congenital aphakia 31.2 SOX2 PAX6 OTX2 HCCS
14 isolated klippel-feil syndrome 31.0 GDF6 GDF3
15 lens subluxation 30.5 VSX2 TFAP2A
16 microphthalmia, syndromic 1 12.8
17 microphthalmia, syndromic 9 12.7
18 retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma 12.7
19 microphthalmia, syndromic 6 12.7
20 microphthalmia, syndromic 5 12.6
21 microphthalmia, syndromic 2 12.6
22 microphthalmia, syndromic 8 12.6
23 bosma arhinia microphthalmia syndrome 12.6
24 microphthalmia with limb anomalies 12.6
25 microphthalmia, isolated, with coloboma 3 12.6
26 microphthalmia, syndromic 13 12.6
27 microphthalmia, syndromic 12 12.6
28 microphthalmia, syndromic 11 12.6
29 microphthalmia, isolated 2 12.6
30 microphthalmia, isolated, with coloboma 9 12.6
31 microphthalmia, isolated 3 12.5
32 microphthalmia, isolated 8 12.5
33 microphthalmia, syndromic 4 12.5
34 microphthalmia, isolated 5 12.5
35 microphthalmia, isolated, with coloboma 5 12.5
36 microphthalmia, isolated 4 12.5
37 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 12.5
38 microphthalmia, syndromic 10 12.5
39 syndromic microphthalmia-anophthalmia-coloboma 12.5
40 microphthalmia/coloboma and skeletal dysplasia syndrome 12.5
41 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness 12.5
42 linear skin defects with multiple congenital anomalies 1 12.5
43 macrosomia with microphthalmia, lethal 12.5
44 microphthalmia, isolated, with coloboma 1 12.5
45 arhinia choanal atresia microphthalmia 12.5
46 microphthalmia, isolated 7 12.4
47 microphthalmia, isolated, with coloboma 7 12.4
48 microphthalmia, isolated, with cataract 1 12.4
49 microphthalmia, isolated, with coloboma 10 12.4
50 microphthalmia, isolated, with coloboma 2 12.3

Graphical network of the top 20 diseases related to Microphthalmia:

Diseases related to Microphthalmia

Symptoms & Phenotypes for Microphthalmia

Human phenotypes related to Microphthalmia:

59 32 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 strabismus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000486
2 microphthalmia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000568
3 glaucoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0000501
4 abnormal choroid morphology 32 hallmark (90%) HP:0000610
5 high hypermetropia 32 hallmark (90%) HP:0008499
6 abnormality of retinal pigmentation 59 32 occasional (7.5%) Occasional (29-5%) HP:0007703
7 abnormality of the choroid 59 Very frequent (99-80%)
8 high-grade hypermetropia 59 Very frequent (99-80%)

MGI Mouse Phenotypes related to Microphthalmia:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.34 ALDH1A3 BCOR BMP4 GDF3 HCCS MITF
2 growth/size/body region MP:0005378 10.28 ALDH1A3 BCOR BMP4 GDF3 GDF6 HCCS
3 embryo MP:0005380 10.26 ALDH1A3 BCOR BMP4 GDF3 HCCS MITF
4 craniofacial MP:0005382 10.21 ALDH1A3 BMP4 GDF6 MITF OTX2 PAX6
5 mortality/aging MP:0010768 10.21 ALDH1A3 BCOR BMP4 GDF3 GDF6 HCCS
6 nervous system MP:0003631 10.17 BCOR BMP4 GDF6 MFRP MITF OTX2
7 endocrine/exocrine gland MP:0005379 10.16 ALDH1A3 BMP4 MITF OTX2 PAX6 RBP4
8 digestive/alimentary MP:0005381 10.1 ALDH1A3 BMP4 OTX2 PAX6 RAX RBP4
9 normal MP:0002873 10 ALDH1A3 BMP4 GDF3 HCCS MITF OTX2
10 hearing/vestibular/ear MP:0005377 9.95 BMP4 GDF6 MITF OTX2 PAX6 SOX2
11 pigmentation MP:0001186 9.76 MFRP MITF OTX2 PAX6 SOX2 STRA6
12 skeleton MP:0005390 9.65 ALDH1A3 BMP4 GDF6 MITF OTX2 PAX6
13 vision/eye MP:0005391 9.5 ALDH1A3 BMP4 GDF6 MFRP MITF OTX2

Drugs & Therapeutics for Microphthalmia

Interventional clinical trials:

(show all 15)
# Name Status NCT ID Phase Drugs
1 A Phase 2 Study of ARQ 197 in Patients With Microphthalmia Transcription Factor Associated Tumors Completed NCT00557609 Phase 2 ARQ 197
2 Melanocyte Features and Its Influence in Pigmentation in Basal Cell Carcinoma in the Mexican Population Unknown status NCT02576769
3 Role of SLURP-1 in Melanoma and Melanoma Stem Cells Unknown status NCT01281722
4 Fundus Changes in the Microphthalmy Eyes Completed NCT00811512
5 Molecular Analysis of Microphthalmia/Anophthalmia and Related Disorders Completed NCT00011843
6 A Long-term Postoperative Outcome After Bilateral Congenital Cataract Surgery in Eyes With Microphthalmos Completed NCT01818037
7 Health- and Vision-Related Quality of Life in Children and Young People With Childhood Glaucoma, Childhood Cataract and Congenital Eye Defects Completed NCT02490267
8 Differences in Bone Cell Activity Between Rheumatoid Arthritis and Ankylosing Spondylitis Completed NCT01417455
9 Randomized, Controlled Trial in Patients With Senile Cataract to Evaluate the Efficacy of Ultrasound-free Femtosecond Laser (FLACS) Cataract Surgery (USFREE), Compared to Traditional Phacoemulsification Surgery Using Ultrasound. Completed NCT03050008
10 Pathogenesis of Selected X-Linked Dominant Disorders and New Strategies to Identify the Gene Mutated in Aicardi Syndrome Recruiting NCT00697411
11 Multicenter Neonatal Eye Disease Screening in China Recruiting NCT02851251
12 The Role of Gonadotropin Pulsations in the Regulation of Puberty and Fertility Recruiting NCT01511588
13 Generation of Induced Pluripotent Stem (iPS) Cell Lines From Somatic Cells of Participants With Eye Diseases and From Somatic Cells of Matched Controls Recruiting NCT01432847
14 Extensive Circumferential Partial Thickness Sclerectomy in Nanophthalmic Eyes Active, not recruiting NCT03748732
15 Mohs Micrographic Surgery for Primary Cutaneous Malignant Melanoma In Situ Using Immunofluorescence Withdrawn NCT02306512

Search NIH Clinical Center for Microphthalmia

Cochrane evidence based reviews: microphthalmos

Genetic Tests for Microphthalmia

Genetic tests related to Microphthalmia:

# Genetic test Affiliating Genes
1 Microphthalmia 29

Anatomical Context for Microphthalmia

MalaCards organs/tissues related to Microphthalmia:

Eye, Skin, Retina, Brain, Bone, Heart, Kidney

Publications for Microphthalmia

Articles related to Microphthalmia:

(show top 50) (show all 3743)
# Title Authors PMID Year
A genome-wide linkage scan in Tunisian families identifies a novel locus for non-syndromic posterior microphthalmia to chromosome 2q37.1. 9 38 71
19526372 2009
Mutations in the CHX10 gene in non-syndromic microphthalmia/anophthalmia patients from Qatar. 9 38 71
17661825 2007
A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation. 9 38 71
17167404 2006
CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds. 9 38 71
15257456 2004
Biometric and molecular characterization of clinically diagnosed posterior microphthalmos. 38 71
23127749 2013
ALDH1A3 mutations cause recessive anophthalmia and microphthalmia. 38 71
23312594 2013
Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalmia in humans and mice. 38 71
21532570 2011
Posterior microphthalmos as a genetically heterogeneous condition that can be allelic to nanophthalmos. 38 71
21670352 2011
Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease. 38 71
21397065 2011
Mutations in a novel serine protease PRSS56 in families with nanophthalmos. 38 71
21850159 2011
Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies. 38 71
19864492 2010
Confirmation of RAX gene involvement in human anophthalmia. 38 71
18783408 2008
A novel mutation confirms MFRP as the gene causing the syndrome of nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen. 38 71
18554571 2008
Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea. 38 71
14662654 2004
Microphthalmia/Anophthalmia/Coloboma Spectrum 38 71
20301552 2004
Human microphthalmia associated with mutations in the retinal homeobox gene CHX10. Percin EF, Ploder LA, Yu JJ, Arici K, Horsford DJ, Rutherford A, Bapat B, Cox DW, Duncan AMV, Kalnins VI, Kocak-Altintas A, Sowden JC, Trabousli E, Sarfarazi M, McInnes RR.*(1) Nat Gen 2000;25:397-401. 38 71
11341888 2001
Isolated "clinical anophthalmia" in an extensively affected Arab kindred. 38 71
3378363 1988
Familial nanophthalmos. 38 71
1258954 1976
Novel TMEM98 mutations in pedigrees with autosomal dominant nanophthalmos. 71
26392740 2015
Mutation in TMEM98 in a large white kindred with autosomal dominant nanophthalmos linked to 17p12-q12. 71
24852644 2014
Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies. 71
23307924 2013
Mutations in TULP1, NR2E3, and MFRP genes in Indian families with autosomal recessive retinitis pigmentosa. 71
22605927 2012
A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy. 71
20361016 2010
Compound heterozygosity for a novel and a recurrent MFRP gene mutation in a family with the nanophthalmos-retinitis pigmentosa complex. 71
19753314 2009
Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes. 71
19129173 2009
Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome. 71
18425797 2008
Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein. 71
15976030 2005
Hereditary high hypermetropia in the Faroe Islands. 71
15823920 2005
Involvement of MITF-A, an alternative isoform of mi transcription factor, on the expression of tryptase gene in human mast cells. 9 38
20513998 2010
Microphthalmia, parkinsonism, and enhanced nociception in Pitx3 ( 416insG ) mice. 9 38
20033184 2010
Microphthalmia in Texel sheep is associated with a missense mutation in the paired-like homeodomain 3 (PITX3) gene. 9 38
20084168 2010
Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes. 9 38
20003547 2009
Complex regulation of tartrate-resistant acid phosphatase (TRAP) expression by interleukin 4 (IL-4): IL-4 indirectly suppresses receptor activator of NF-kappaB ligand (RANKL)-mediated TRAP expression but modestly induces its expression directly. 9 38
19801646 2009
BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects. 9 38
19367324 2009
Mutations in the newly identified RAX regulatory sequence are not a frequent cause of micro/anophthalmia. 9 38
19397404 2009
A new locus for congenital cataract, microcornea, microphthalmia, and atypical iris coloboma maps to chromosome 2. 9 38
19004499 2009
Epithelioid angiomyolipoma of the kidney. 9 38
19121090 2009
Induction of microphthalmia transcription factor (Mitf) by forskolin and stimulation of melanin release in UISO-Mel-6 cells. 9 38
18028952 2008
Diadenosine tetraphosphate hydrolase is part of the transcriptional regulation network in immunologically activated mast cells. 9 38
18644867 2008
Expression patterns of MITF during human cutaneous embryogenesis: evidence for bulge epithelial expression and persistence of dermal melanoblasts. 9 38
18312434 2008
Molecular analysis of CHX10 and MFRP in Chinese subjects with primary angle closure glaucoma and short axial length eyes. 9 38
18648522 2008
Schwannoma of the kidney. 9 38
18391921 2008
PNL2 melanocytic marker in immunohistochemical evaluation of primary mucosal melanoma of the head and neck. 9 38
18228523 2008
Overexpression of Pax6 results in microphthalmia, retinal dysplasia and defective retinal ganglion cell axon guidance. 9 38
18507827 2008
SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development. 9 38
18285410 2008
Mutation in a novel connexin-like gene (Gjf1) in the mouse affects early lens development and causes a variable small-eye phenotype. 9 38
18385072 2008
Unique effects of KIT D816V in BaF3 cells: induction of cluster formation, histamine synthesis, and early mast cell differentiation antigens. 9 38
18390729 2008
Gene expression signature associated with BRAF mutations in human primary cutaneous melanomas. 9 38
19383316 2008
Molecular links among the causative genes for ocular malformation: Otx2 and Sox2 coregulate Rax expression. 9 38
18385377 2008
[Mutation screening of MITF gene in patients with Waardenburg syndrome type 2]. 9 38
18424413 2008

Variations for Microphthalmia

ClinVar genetic disease variations for Microphthalmia:

# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 RBP4 NM_006744.4(RBP4): c.394T> A (p.Tyr132Asn) single nucleotide variant Pathogenic rs1329285216 10:95353754-95353754 10:93593997-93593997
2 PAX6 NM_000280.4(PAX6): c.131G> C (p.Arg44Pro) single nucleotide variant Pathogenic rs1554985722 11:31824262-31824262 11:31802714-31802714
3 TFAP2A NM_003220.3(TFAP2A): c.1037_1038del (p.Lys346fs) deletion Pathogenic rs1554110735 6:10398926-10398927 6:10398693-10398694
4 46;X;t(X;19)(p22.1;p13.3)dn Translocation Pathogenic
5 ALDH1A3 NM_000693.4(ALDH1A3): c.1436G> A (p.Gly479Asp) single nucleotide variant Likely pathogenic 15:101448657-101448657 15:100908452-100908452
6 MFRP NM_031433.4(MFRP): c.1615C> T (p.Arg539Cys) single nucleotide variant Likely pathogenic 11:119212383-119212383 11:119341673-119341673
7 VSX2 NM_182894.3(VSX2): c.679C> T (p.Arg227Trp) single nucleotide variant Uncertain significance rs121912545 14:74726404-74726404 14:74259701-74259701

Copy number variations for Microphthalmia from CNVD:

# 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

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

(show all 33)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.98 TFAP2A SOX2 PAX6 OTX2 MITF GDF6
2 heart development GO:0007507 9.92 STRA6 RBP4 BMP4 BCOR
3 regulation of gene expression GO:0010468 9.9 SOX2 PAX6 MITF BMP4
4 multicellular organism development GO:0007275 9.85 VSX2 SOX2 SIX6 RAX PAX6 OTX2
5 animal organ morphogenesis GO:0009887 9.83 SIX6 PAX6 HCCS
6 kidney development GO:0001822 9.83 TFAP2A STRA6 BMP4
7 lung development GO:0030324 9.82 STRA6 RBP4 BMP4
8 BMP signaling pathway GO:0030509 9.8 GDF6 GDF3 BMP4
9 negative regulation of epithelial cell proliferation GO:0050680 9.77 SOX2 PAX6 BMP4
10 regulation of MAPK cascade GO:0043408 9.75 GDF6 GDF3 BMP4
11 cell development GO:0048468 9.74 GDF6 GDF3 BMP4
12 SMAD protein signal transduction GO:0060395 9.73 GDF6 GDF3 BMP4
13 visual perception GO:0007601 9.73 VSX2 SIX6 RBP4 RAX PAX6 MFRP
14 blood vessel development GO:0001568 9.71 STRA6 PAX6 BMP4
15 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.7 GDF6 GDF3 BMP4
16 pituitary gland development GO:0021983 9.67 SOX2 PAX6 BMP4
17 forebrain development GO:0030900 9.67 SOX2 PAX6 OTX2 BMP4
18 negative regulation of myoblast differentiation GO:0045662 9.66 GDF3 BMP4
19 eye photoreceptor cell development GO:0042462 9.65 PAX6 MFRP
20 pulmonary valve morphogenesis GO:0003184 9.64 STRA6 BMP4
21 eyelid development in camera-type eye GO:0061029 9.63 TFAP2A STRA6
22 smooth muscle tissue development GO:0048745 9.62 STRA6 BMP4
23 cell fate commitment GO:0045165 9.62 SOX2 PAX6 MITF BMP4
24 primitive streak formation GO:0090009 9.61 OTX2 GDF3
25 telencephalon regionalization GO:0021978 9.58 PAX6 BMP4
26 regulation of cell fate commitment GO:0010453 9.51 GDF3 BMP4
27 retinol transport GO:0034633 9.48 STRA6 RBP4
28 eye development GO:0001654 9.35 SOX2 SIX6 RBP4 PAX6 GDF3
29 transcription by RNA polymerase II GO:0006366 9.1 PAX6
30 camera-type eye development GO:0043010 9.1 STRA6 RAX PRSS56 PAX6 MITF BMP4
31 regulation of transcription, DNA-templated GO:0006355 10.15 VSX2 TFAP2A SOX2 SIX6 RAX PAX6
32 negative regulation of transcription by RNA polymerase II GO:0000122 10.08 TFAP2A SOX2 PAX6 MITF BMP4 BCOR
33 positive regulation of transcription by RNA polymerase II GO:0045944 10.06 TFAP2A SOX2 SIX6 RAX PAX6 OTX2

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.86 VSX2 TFAP2A SOX2 SIX6 RAX PAX6
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.72 TFAP2A RAX PAX6 OTX2 MITF
3 transcription regulatory region DNA binding GO:0044212 9.71 TFAP2A SOX2 PAX6 BCOR
4 sequence-specific DNA binding GO:0043565 9.63 VSX2 TFAP2A SOX2 RAX PAX6 OTX2
5 transcription regulatory region sequence-specific DNA binding GO:0000976 9.54 TFAP2A SOX2 SIX6
6 retinol binding GO:0019841 9.46 STRA6 RBP4
7 retinal binding GO:0016918 9.43 STRA6 RBP4
8 transforming growth factor beta receptor binding GO:0005160 9.13 GDF6 GDF3 BMP4
9 retinol transmembrane transporter activity GO:0034632 8.62 STRA6 RBP4
10 DNA binding GO:0003677 10.08 VSX2 TFAP2A SOX2 SIX6 RAX PAX6

Sources for Microphthalmia

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
55 Novoseek
58 OMIM via Orphanet
62 PubMed
71 Tocris
73 UMLS via Orphanet
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