MCID: MCR013
MIFTS: 60

Microphthalmia

Categories: Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Microphthalmia

MalaCards integrated aliases for Microphthalmia:

Name: Microphthalmia 12 77 54 26 38 30 56 6 15 41 17
Microphthalmos 12 26 45
Nanophthalmos 12 38 6
Isolated Anophthalmia-Microphthalmia Syndrome 54 6
Nanophthalmia 12 60
Isolated Microphthalmia-Anophthalmia-Coloboma 54
Microphthalmia-Anophthalmia-Coloboma Spectrum 54
Isolated Anophthalmia - Microphthalmia 54
Isolated Pure Microphthalmia 54
Primitive Anophthalmia 54
Simple Microphthalmos 12
Clinical Anophthalmia 54
Mac Spectrum 54

Characteristics:

Orphanet epidemiological data:

60
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
MeSH 45 D008850
NCIt 51 C98989
SNOMED-CT 69 61142002
ICD10 34 Q11.2
ICD10 via Orphanet 35 Q11.2
Orphanet 60 ORPHA35612
UMLS 74 C0026010

Summaries for Microphthalmia

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2542Disease definitionAnophthalmia and microphthalmia describe, 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 heart, and related phenotypes are strabismus and microphthalmia

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

Genetics Home Reference : 26 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.

Wikipedia : 77 Microphthalmia (Greek: μικρός micros = small; ὀφθαλμός 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 361)
# Related Disease Score Top Affiliating Genes
1 microphthalmia, syndromic 3 34.5 SIX6 SOX2
2 microphthalmia, isolated 6 34.4 MFRP PRSS56 VSX2
3 fryns microphthalmia syndrome 34.3 OTX2 PAX6 SOX2 VSX2
4 microphthalmia, isolated 1 34.1 MFRP MITF SOX2 VSX2
5 colobomatous microphthalmia 33.9 GDF6 RBP4 STRA6 VSX2
6 coloboma of macula 32.4 ALDH1A3 GDF6 MFRP OTX2 PAX6 RBP4
7 coloboma, ocular, autosomal dominant 31.7 PAX6 RBP4
8 sclerocornea 30.9 HCCS RAX
9 coloboma of iris 30.4 PAX6 TFAP2A
10 amblyopia 30.2 MFRP PRSS56 TFAP2A
11 microphthalmia, syndromic 1 12.6
12 microphthalmia, syndromic 9 12.6
13 retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma 12.5
14 microphthalmia, syndromic 5 12.5
15 microphthalmia, syndromic 2 12.5
16 bosma arhinia microphthalmia syndrome 12.5
17 microphthalmia, syndromic 13 12.5
18 microphthalmia, isolated, with coloboma 3 12.5
19 microphthalmia, syndromic 12 12.5
20 microphthalmia with limb anomalies 12.5
21 microphthalmia, syndromic 11 12.4
22 microphthalmia, isolated 2 12.4
23 microphthalmia, syndromic 6 12.4
24 microphthalmia, isolated 8 12.4
25 microphthalmia, isolated 5 12.4
26 microphthalmia, isolated, with coloboma 5 12.4
27 microphthalmia, syndromic 8 12.4
28 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 12.4
29 microphthalmia, isolated, with coloboma 9 12.4
30 microphthalmia, syndromic 10 12.4
31 arhinia choanal atresia microphthalmia 12.4
32 macrosomia with microphthalmia, lethal 12.4
33 microphthalmia/coloboma and skeletal dysplasia syndrome 12.4
34 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness 12.4
35 microphthalmia, isolated 3 12.3
36 microphthalmia, isolated 7 12.3
37 linear skin defects with multiple congenital anomalies 1 12.3
38 microphthalmia, isolated 4 12.3
39 microphthalmia, syndromic 4 12.3
40 microphthalmia, isolated, with coloboma 6 12.3
41 microphthalmia, isolated, with coloboma 7 12.3
42 microphthalmia, isolated, with coloboma 1 12.2
43 microphthalmia, isolated, with coloboma 10 12.2
44 microcephaly microphthalmos blindness 12.2
45 microphthalmia, isolated, with corectopia 12.1
46 dextrocardia with unusual facies and microphthalmia 12.1
47 microphthalmia microtia fetal akinesia 12.1
48 microphthalmia, isolated, with coloboma 4 12.1
49 microphthalmia, isolated, with cataract 1 12.1
50 microphthalmia, isolated, with coloboma 2 12.1

Graphical network of the top 20 diseases related to Microphthalmia:



Diseases related to Microphthalmia

Symptoms & Phenotypes for Microphthalmia

Human phenotypes related to Microphthalmia:

60 33 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 strabismus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000486
2 microphthalmia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000568
3 glaucoma 60 33 hallmark (90%) Very frequent (99-80%) HP:0000501
4 high hypermetropia 33 hallmark (90%) HP:0008499
5 abnormal choroid morphology 33 hallmark (90%) HP:0000610
6 abnormality of retinal pigmentation 60 33 occasional (7.5%) Occasional (29-5%) HP:0007703
7 abnormality of the choroid 60 Very frequent (99-80%)
8 high-grade hypermetropia 60 Very frequent (99-80%)

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

27 (show all 26)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.81 MITF
2 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.81 HCCS
3 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.81 BCOR HCCS
4 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.81 VSX2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-125 9.81 OTX2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.81 MITF
7 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.81 MITF
8 Increased shRNA abundance (Z-score > 2) GR00366-A-135 9.81 MITF
9 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.81 HCCS
10 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.81 VSX2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.81 HCCS
12 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.81 OTX2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.81 BCOR
14 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.81 OTX2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-195 9.81 BCOR
16 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.81 OTX2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.81 MITF
18 Increased shRNA abundance (Z-score > 2) GR00366-A-210 9.81 BCOR
19 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.81 BCOR HCCS MITF OTX2 VSX2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.81 BCOR
21 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.81 HCCS
22 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.81 HCCS
23 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.81 HCCS
24 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.81 BCOR
25 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.81 VSX2
26 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.81 OTX2

MGI Mouse Phenotypes related to Microphthalmia:

47 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.3 ALDH1A3 BCOR BMP4 HCCS MITF OTX2
2 growth/size/body region MP:0005378 10.25 ALDH1A3 BCOR BMP4 GDF6 HCCS MITF
3 embryo MP:0005380 10.22 ALDH1A3 BCOR BMP4 HCCS MITF OTX2
4 craniofacial MP:0005382 10.21 ALDH1A3 BMP4 GDF6 MITF OTX2 PAX6
5 mortality/aging MP:0010768 10.18 ALDH1A3 BCOR BMP4 GDF6 HCCS MITF
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 9.96 ALDH1A3 BMP4 HCCS MITF OTX2 PAX6
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:


# Name Status NCT ID Phase Drugs
1 Phase 2 Study in Patients With MiT Tumors Completed NCT00557609 Phase 2 ARQ 197
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
7 Extensive Circumferential Partial Thickness Sclerectomy in Nanophthalmic Eyes Active, not recruiting NCT03748732 Not Applicable

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 30

Anatomical Context for Microphthalmia

MalaCards organs/tissues related to Microphthalmia:

42
Eye, Skin, Heart, Bone, Pituitary, Myeloid, Kidney

Publications for Microphthalmia

Articles related to Microphthalmia:

(show top 50) (show all 984)
# Title Authors Year
1
Medical Management of Children With Congenital/Infantile Cataract Associated With Microphthalmia, Microcornea, or Persistent Fetal Vasculature. ( 30371912 )
2019
2
Unique presentation of congenital cataract concurrent with microcornea, microphthalmia plus posterior capsule defect in monozygotic twins caused by a novel GJA8 mutation. ( 30498267 )
2019
3
Microphthalmia Syndrome 9: Case Report of a Newborn Baby with Pulmonary Hypoplasia, Diaphragmatic Eventration, Microphthalmia, Cardiac Defect and Severe Primary Pulmonary Hypertension. ( 30880327 )
2019
4
Microphthalmia with linear skin defects syndrome (MIDAS). ( 31015240 )
2019
5
Mutation in the mouse histone gene Hist2h3c1 leads to degeneration of the lens vesicle and severe microphthalmia. ( 30991053 )
2019
6
Mouse models for microphthalmia, anophthalmia and cataracts. ( 30919050 )
2019
7
NAA10 polyadenylation signal variants cause syndromic microphthalmia. ( 30842225 )
2019
8
Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia. ( 30762128 )
2019
9
Mutation of microphthalmia-associated transcription factor (mitf) in zebrafish sensitizes for glomerulopathy. ( 30718228 )
2019
10
Negative Regulatory Loop between Microphthalmia-Associated Transcription Factor (MITF) and Notch Signaling. ( 30699982 )
2019
11
Photoreceptor degeneration in microphthalmia (Mitf) mice: partial rescue by pigment epithelium-derived factor. ( 30651300 )
2019
12
Microphthalmia-associated transcription factor phosphorylation: Cross talk between GSK3 and MAPK signaling. ( 30633855 )
2019
13
Microphthalmia With Multiple Anterior Segment Defects in Portuguese Water Dogs. ( 30131012 )
2019
14
Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly. ( 30862798 )
2019
15
Management of congenital microphthalmos and anophthalmos with orbital cyst. ( 30928365 )
2019
16
Comparison between Refractive Outcome of Primary Piggyback Intraocular Lens versus Secondary Lens Iris Claw Lens in Posterior Microphthalmos. ( 30895155 )
2019
17
Ocular findings in posterior microphthalmos. ( 30930662 )
2019
18
Swept source-OCT and swept source-OCT angiography findings in posterior microphthalmos. ( 31077022 )
2019
19
Adenocarcinoma of Pigmented Ciliary Epithelium in a Child With Aicardi Syndrome and Congenital Microphthalmia With Cyst. ( 29342031 )
2018
20
FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation. ( 29980640 )
2018
21
Association of FOXE3-p.Ala170Ala and PITX3-p.Ile95Ile Polymorphisms with Congenital Cataract and Microphthalmia. ( 30479708 )
2018
22
Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia. ( 30386378 )
2018
23
Epidemiology of anophthalmia and microphthalmia: Prevalence and patterns in Texas, 1999-2009. ( 30070760 )
2018
24
A mosaic form of microphthalmia with linear skin defects. ( 30068298 )
2018
25
Identification of a gene encoding microphthalmia-associated transcription factor and its association with shell color in the clam Meretrix petechialis. ( 30031885 )
2018
26
Expanding the phenotype of the X-linked BCOR microphthalmia syndromes. ( 29974297 )
2018
27
Linear skin defects and microphthalmia. ( 29896851 )
2018
28
Sclerocornea-Microphthalmia-Aphakia Complex: Description of Two Additional Cases Associated With Novel FOXE3 Mutations and Review of the Literature. ( 29878917 )
2018
29
Mutation of frizzled8a delays neural retinal cell differentiation and results in microphthalmia in zebrafish. ( 29877567 )
2018
30
Microphthalmia-associated transcription factor (MiTF): Promiscuous staining patterns in fibrohistiocytic lesions is a potential pitfall. ( 29773427 )
2018
31
Functional vision and quality of life in children with microphthalmia/anophthalmia/coloboma-a cross-sectional study. ( 29730053 )
2018
32
Nutrient intake in women before conception and risks of anophthalmia and microphthalmia in their offspring. ( 29504274 )
2018
33
Genetic investigation of ocular developmental genes in 52 patients with anophthalmia/microphthalmia. ( 29461140 )
2018
34
Genetic investigation of 93 families with microphthalmia or posterior microphthalmos. ( 29450879 )
2018
35
Persistent craniopharyngeal canal, bilateral microphthalmia with colobomatous cysts, ectopic adenohypophysis with Rathke cleft cyst, and ectopic neurohypophysis: case report and review of the literature. ( 29445918 )
2018
36
Microphthalmia, corneal dermoids, and congenital anomalies resembling Goldenhar syndrome in a cat. ( 29346049 )
2018
37
The transcription factors GATA2 and microphthalmia-associated transcription factor regulate Hdc gene expression in mast cells and are required for IgE/mast cell-mediated anaphylaxis. ( 29277702 )
2018
38
Microphthalmia, Dermal Aplasia, and Sclerocornea Syndrome: Endoscopic Cyclophotocoagulation in the Management of Congenital Glaucoma. ( 29088057 )
2018
39
Microphthalmia with linear skin defects (MLS) syndrome: familial presentation. ( 29023962 )
2018
40
BAF60A mediates interactions between the microphthalmia-associated transcription factor and the BRG1-containing SWI/SNF complex during melanocyte differentiation. ( 30515787 )
2018
41
Novel truncating mutation in TENM3 in siblings with motor developmental delay, ocular coloboma, oval cornea, without microphthalmia. ( 30513139 )
2018
42
Microphthalmia is not a mandatory finding in X-linked recessive syndromic microphthalmia caused by the recurrent BCOR variant p.Pro85Leu. ( 30450806 )
2018
43
A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants. ( 30445150 )
2018
44
Publisher Correction: Female mice lacking Ftx lncRNA exhibit impaired X-chromosome inactivation and a microphthalmia-like phenotype. ( 30382105 )
2018
45
Genetics of anophthalmia and microphthalmia. Part 2: Syndromes associated with anophthalmia-microphthalmia. ( 30374660 )
2018
46
Deletion of Lrp4 increases the incidence of microphthalmia. ( 30352686 )
2018
47
An application of data mining to identify potential risk factors for anophthalmia and microphthalmia. ( 30300919 )
2018
48
Female mice lacking Ftx lncRNA exhibit impaired X-chromosome inactivation and a microphthalmia-like phenotype. ( 30237402 )
2018
49
Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature. ( 30200890 )
2018
50
Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing. ( 30181649 )
2018

Variations for Microphthalmia

ClinVar genetic disease variations for Microphthalmia:

6 (show all 11)
# Gene Variation Type Significance SNP ID Assembly Location
1 46;X;t(X;19)(p22.1;p13.3)dn Translocation Pathogenic
2 RBP4 NM_006744.3(RBP4): c.394T> A (p.Tyr132Asn) single nucleotide variant Pathogenic rs1329285216 GRCh38 Chromosome 10, 93593997: 93593997
3 RBP4 NM_006744.3(RBP4): c.394T> A (p.Tyr132Asn) single nucleotide variant Pathogenic rs1329285216 GRCh37 Chromosome 10, 95353754: 95353754
4 PAX6 NM_000280.4(PAX6): c.131G> C (p.Arg44Pro) single nucleotide variant Pathogenic rs1554985722 GRCh38 Chromosome 11, 31802714: 31802714
5 PAX6 NM_000280.4(PAX6): c.131G> C (p.Arg44Pro) single nucleotide variant Pathogenic rs1554985722 GRCh37 Chromosome 11, 31824262: 31824262
6 TFAP2A NM_003220.2(TFAP2A): c.1037_1038delAA (p.Lys346Argfs) deletion Pathogenic rs1554110735 GRCh37 Chromosome 6, 10398926: 10398927
7 TFAP2A NM_003220.2(TFAP2A): c.1037_1038delAA (p.Lys346Argfs) deletion Pathogenic rs1554110735 GRCh38 Chromosome 6, 10398693: 10398694
8 MFRP NM_031433.3(MFRP): c.1615C> T (p.Arg539Cys) single nucleotide variant Likely pathogenic GRCh38 Chromosome 11, 119341673: 119341673
9 MFRP NM_031433.3(MFRP): c.1615C> T (p.Arg539Cys) single nucleotide variant Likely pathogenic GRCh37 Chromosome 11, 119212383: 119212383
10 ALDH1A3 NM_000693.3(ALDH1A3): c.1436G> A (p.Gly479Asp) single nucleotide variant Likely pathogenic GRCh37 Chromosome 15, 101448657: 101448657
11 ALDH1A3 NM_000693.3(ALDH1A3): c.1436G> A (p.Gly479Asp) single nucleotide variant Likely pathogenic GRCh38 Chromosome 15, 100908452: 100908452

Copy number variations for Microphthalmia from CNVD:

7
# 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 25)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.98 BMP4 GDF6 MITF OTX2 PAX6 SOX2
2 multicellular organism development GO:0007275 9.91 BMP4 GDF6 MITF OTX2 PAX6 RAX
3 heart development GO:0007507 9.88 BCOR BMP4 RBP4 STRA6
4 regulation of gene expression GO:0010468 9.86 BMP4 MITF PAX6 SOX2
5 animal organ morphogenesis GO:0009887 9.8 HCCS PAX6 SIX6
6 kidney development GO:0001822 9.79 BMP4 STRA6 TFAP2A
7 lung development GO:0030324 9.78 BMP4 RBP4 STRA6
8 negative regulation of epithelial cell proliferation GO:0050680 9.72 BMP4 PAX6 SOX2
9 blood vessel development GO:0001568 9.69 BMP4 PAX6 STRA6
10 pituitary gland development GO:0021983 9.67 BMP4 PAX6 SOX2
11 forebrain development GO:0030900 9.67 BMP4 OTX2 PAX6 SOX2
12 cell fate commitment GO:0045165 9.62 BMP4 MITF PAX6 SOX2
13 eye photoreceptor cell development GO:0042462 9.61 MFRP PAX6
14 pulmonary valve morphogenesis GO:0003184 9.6 BMP4 STRA6
15 eyelid development in camera-type eye GO:0061029 9.59 STRA6 TFAP2A
16 smooth muscle tissue development GO:0048745 9.58 BMP4 STRA6
17 telencephalon regionalization GO:0021978 9.54 BMP4 PAX6
18 retinol transport GO:0034633 9.48 RBP4 STRA6
19 eye development GO:0001654 9.46 PAX6 RBP4 SIX6 SOX2
20 visual perception GO:0007601 9.43 MFRP PAX6 RAX RBP4 SIX6 VSX2
21 transcription by RNA polymerase II GO:0006366 9.1 PAX6
22 camera-type eye development GO:0043010 9.1 BMP4 MITF PAX6 PRSS56 RAX STRA6
23 regulation of transcription, DNA-templated GO:0006355 10.13 MITF OTX2 PAX6 RAX SIX6 SOX2
24 positive regulation of transcription by RNA polymerase II GO:0045944 10.06 BMP4 MITF OTX2 PAX6 RAX SIX6
25 negative regulation of transcription by RNA polymerase II GO:0000122 10.04 BCOR BMP4 MITF PAX6 SOX2 TFAP2A

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 9.76 MITF OTX2 PAX6 RAX SIX6 SOX2
2 transcription regulatory region DNA binding GO:0044212 9.67 BCOR PAX6 SOX2 TFAP2A
3 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.65 MITF OTX2 PAX6 RAX TFAP2A
4 transcription regulatory region sequence-specific DNA binding GO:0000976 9.5 SIX6 SOX2 TFAP2A
5 retinol binding GO:0019841 9.43 RBP4 STRA6
6 sequence-specific DNA binding GO:0043565 9.43 OTX2 PAX6 RAX SOX2 TFAP2A VSX2
7 retinal binding GO:0016918 9.4 RBP4 STRA6
8 retinol transmembrane transporter activity GO:0034632 8.62 RBP4 STRA6
9 DNA binding GO:0003677 10.06 MITF OTX2 PAX6 RAX SIX6 SOX2

Sources for Microphthalmia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....