MCID: MCR013
MIFTS: 62

Microphthalmia

Categories: Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Microphthalmia

MalaCards integrated aliases for Microphthalmia:

Name: Microphthalmia 12 76 53 25 37 29 55 6 15 40
Microphthalmos 12 25 44
Nanophthalmos 12 37 6
Isolated Anophthalmia-Microphthalmia Syndrome 53 6
Nanophthalmia 12 59
Isolated Microphthalmia-Anophthalmia-Coloboma 53
Microphthalmia-Anophthalmia-Coloboma Spectrum 53
Isolated Anophthalmia - Microphthalmia 53
Isolated Pure Microphthalmia 53
Primitive Anophthalmia 53
Simple Microphthalmos 12
Clinical Anophthalmia 53
Mac Spectrum 53

Characteristics:

Orphanet epidemiological data:

59
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 44 D008850
NCIt 50 C98989
SNOMED-CT 68 61142002
Orphanet 59 ORPHA35612
ICD10 via Orphanet 34 Q11.2
UMLS 73 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: 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 fryns microphthalmia syndrome. 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 bone, and related phenotypes are abnormality of retinal pigmentation and strabismus

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.

Wikipedia : 76 Microphthalmia (Greek: μικρ�?�? micros = small; �?�?θαλμ�?�? 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 320)
# Related Disease Score Top Affiliating Genes
1 microphthalmia, syndromic 3 34.1 SOX2 SIX6
2 fryns microphthalmia syndrome 34.0 VSX2 SOX2 PAX6 OTX2
3 microphthalmia, isolated 6 33.9 VSX2 PRSS56 MFRP
4 microphthalmia, isolated 1 33.8 VSX2 SOX2 MITF MFRP
5 colobomatous microphthalmia 33.6 VSX2 STRA6 RBP4 GDF6
6 coloboma of macula 32.1 VSX2 TFAP2A STRA6 SOX2 RBP4 PAX6
7 coloboma, ocular, autosomal dominant 31.6 RBP4 PAX6
8 cataract 30.8 SIX6 PAX6 OTX2 BCOR
9 sclerocornea 30.7 RAX HCCS
10 coloboma of iris 30.1 TFAP2A PAX6
11 amblyopia 29.8 TFAP2A PRSS56 MFRP
12 microphthalmia, syndromic 1 12.6
13 microphthalmia, syndromic 9 12.5
14 microphthalmia, syndromic 5 12.5
15 bosma arhinia microphthalmia syndrome 12.4
16 microphthalmia with limb anomalies 12.4
17 microphthalmia, syndromic 6 12.4
18 retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma 12.4
19 microphthalmia, isolated 5 12.4
20 microphthalmia, syndromic 8 12.4
21 microphthalmia, syndromic 10 12.3
22 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 12.3
23 microphthalmia, syndromic 2 12.3
24 macrosomia with microphthalmia, lethal 12.3
25 microphthalmia, syndromic 13 12.3
26 microphthalmia, isolated, with coloboma 3 12.3
27 microphthalmia/coloboma and skeletal dysplasia syndrome 12.3
28 microphthalmia, syndromic 12 12.3
29 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness 12.3
30 arhinia choanal atresia microphthalmia 12.3
31 microphthalmia, syndromic 11 12.3
32 microphthalmia, isolated 2 12.3
33 microphthalmia, isolated 3 12.3
34 microphthalmia, isolated 7 12.3
35 microphthalmia, isolated 8 12.3
36 microphthalmia, isolated 4 12.3
37 microphthalmia, syndromic 4 12.3
38 microphthalmia, isolated, with coloboma 5 12.3
39 microphthalmia, isolated, with coloboma 6 12.3
40 linear skin defects with multiple congenital anomalies 1 12.3
41 microphthalmia, isolated, with coloboma 7 12.2
42 microphthalmia, isolated, with coloboma 9 12.2
43 microphthalmia, isolated, with coloboma 1 12.2
44 microphthalmia, isolated, with coloboma 10 12.2
45 microcephaly microphthalmos blindness 12.1
46 microphthalmia, isolated, with corectopia 12.1
47 dextrocardia with unusual facies and microphthalmia 12.1
48 microphthalmia microtia fetal akinesia 12.1
49 microphthalmia, isolated, with coloboma 4 12.1
50 microphthalmia, isolated, with cataract 1 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:

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

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

26 (show all 25)
# 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-195 9.78 BCOR
15 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.78 OTX2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.78 MITF
17 Increased shRNA abundance (Z-score > 2) GR00366-A-210 9.78 BCOR
18 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.78 BCOR HCCS MITF OTX2 VSX2
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:

46 (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 29

Anatomical Context for Microphthalmia

MalaCards organs/tissues related to Microphthalmia:

41
Eye, Skin, Bone, Heart, Pituitary, Brain, Kidney

Publications for Microphthalmia

Articles related to Microphthalmia:

(show top 50) (show all 883)
# Title Authors Year
1
Microphthalmia with linear skin defects (MLS) syndrome: familial presentation. ( 29023962 )
2018
2
Genetic investigation of ocular developmental genes in 52 patients with anophthalmia/microphthalmia. ( 29461140 )
2018
3
Adenocarcinoma of Pigmented Ciliary Epithelium in a Child With Aicardi Syndrome and Congenital Microphthalmia With Cyst. ( 29342031 )
2018
4
Mutation of IPO13 causes recessive ocular coloboma, microphthalmia, and cataract. ( 29700284 )
2018
5
Expanding the phenotype of the X-linked BCOR microphthalmia syndromes. ( 29974297 )
2018
6
Linear skin defects and microphthalmia. ( 29896851 )
2018
7
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
8
FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation. ( 29980640 )
2018
9
Microphthalmia-associated transcription factor (MiTF): Promiscuous staining patterns in fibrohistiocytic lesions is a potential pitfall. ( 29773427 )
2018
10
Functional vision and quality of life in children with microphthalmia/anophthalmia/coloboma-a cross-sectional study. ( 29730053 )
2018
11
Sclerocornea-Microphthalmia-Aphakia Complex: Description of Two Additional Cases Associated With Novel FOXE3 Mutations and Review of the Literature. ( 29878917 )
2018
12
Evaluating the association of bone morphogenetic protein 4-V152A and SIX homeobox 6-H141N polymorphisms with congenital cataract and microphthalmia in Western Indian population. ( 29692399 )
2018
13
Genetic Investigation of 93 Families with Microphthalmia or Posterior Microphthalmos. ( 29450879 )
2018
14
Microphthalmia, Dermal Aplasia, and Sclerocornea Syndrome: Endoscopic Cyclophotocoagulation in the Management of Congenital Glaucoma. ( 29088057 )
2018
15
Association of FOXE3-p.Ala170Ala and PITX3-p.Ile95Ile Polymorphisms with Congenital Cataract and Microphthalmia. ( 30479708 )
2018
16
Unique presentation of congenital cataract concurrent with microcornea, microphthalmia plus posterior capsule defect in monozygotic twins caused by a novel GJA8 mutation. ( 30498267 )
2018
17
A novel mutation in the CRYAA gene associated with congenital cataract and microphthalmia in a Chinese family. ( 30340470 )
2018
18
Medical Management of Children With Congenital/Infantile Cataract Associated With Microphthalmia, Microcornea, or Persistent Fetal Vasculature. ( 30371912 )
2018
19
Microphthalmia With Multiple Anterior Segment Defects in Portuguese Water Dogs. ( 30131012 )
2018
20
Prenatal diagnosis and implications of microphthalmia and anophthalmia with a review of current ultrasound guidelines: two case reports. ( 30153864 )
2018
21
Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing. ( 30181649 )
2018
22
Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature. ( 30200890 )
2018
23
Female mice lacking Ftx lncRNA exhibit impaired X-chromosome inactivation and a microphthalmia-like phenotype. ( 30237402 )
2018
24
An application of data mining to identify potential risk factors for anophthalmia and microphthalmia. ( 30300919 )
2018
25
Deletion of Lrp4 increases the incidence of microphthalmia. ( 30352686 )
2018
26
Genetics of anophthalmia and microphthalmia. Part 2: Syndromes associated with anophthalmia-microphthalmia. ( 30374660 )
2018
27
Publisher Correction: Female mice lacking Ftx lncRNA exhibit impaired X-chromosome inactivation and a microphthalmia-like phenotype. ( 30382105 )
2018
28
Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia. ( 30386378 )
2018
29
A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants. ( 30445150 )
2018
30
Microphthalmia is not a mandatory finding in X-linked recessive syndromic microphthalmia caused by the recurrent BCOR variant p.Pro85Leu. ( 30450806 )
2018
31
Novel truncating mutation in TENM3 in siblings with motor developmental delay, ocular coloboma, oval cornea, without microphthalmia. ( 30513139 )
2018
32
BAF60A mediates interactions between the microphthalmia-associated transcription factor and the BRG1-containing SWI/SNF complex during melanocyte differentiation. ( 30515787 )
2018
33
Microphthalmia-Associated Transcription Factor (MITF) Regulates Immune Cell Migration into Melanoma. ( 30502589 )
2018
34
Microphthalmia, corneal dermoids, and congenital anomalies resembling Goldenhar syndrome in a cat. ( 29346049 )
2018
35
Nutrient intake in women before conception and risks of anophthalmia and microphthalmia in their offspring. ( 29504274 )
2018
36
Mutation of frizzled8a delays neural retinal cell differentiation and results in microphthalmia in zebrafish. ( 29877567 )
2018
37
Identification of a gene encoding microphthalmia-associated transcription factor and its association with shell color in the clam Meretrix petechialis. ( 30031885 )
2018
38
A mosaic form of microphthalmia with linear skin defects. ( 30068298 )
2018
39
Epidemiology of anophthalmia and microphthalmia: Prevalence and patterns in Texas, 1999-2009. ( 30070760 )
2018
40
Microphthalmia-associated transcription factor up-regulates acetylcholinesterase expression during melanogenesis of murine melanoma cells. ( 30076217 )
2018
41
Cyst Excision and Globe Preservation in a Case of Microphthalmos With a Large Orbital Cyst and Visual Potential. ( 30198983 )
2018
42
CLINICAL APPRAISAL AND RETINAL IMAGING IN POSTERIOR MICROPHTHALMOS. ( 28357886 )
2018
43
Characteristics and management of congenital anophthalmos and microphthalmos at a tertiary eye hospital. ( 30285524 )
2018
44
Genetic analysis of SOX2 and VSX2 genes in 27 Egyptian families with anophthalmia and microphthalmia. ( 28121235 )
2017
45
Image-guided lacrimal drainage surgery in congenital arhinia-microphthalmia syndrome. ( 28272904 )
2017
46
1-Benzyl-indole-3-carbinol is a highly potent new small molecule inhibitor of Wnt/I^-catenin signaling in melanoma cells that coordinately inhibits cell proliferation and disrupts expression of microphthalmia-associated transcription factor isoform-M. ( 29028954 )
2017
47
LRP5-linked osteoporosis-pseudoglioma syndrome mimicking isolated microphthalmia. ( 28111184 )
2017
48
Anti-melanogenic activity of phytosphingosine via the modulation of the microphthalmia-associated transcription factor signaling pathway. ( 28390782 )
2017
49
The master role of microphthalmia-associated transcription factor in melanocyte and melanoma biology. ( 28263292 )
2017
50
Anterior-Segment Ocular Findings and Microphthalmia in Congenital Zika Syndrome. ( 28676282 )
2017

Variations for Microphthalmia

ClinVar genetic disease variations for Microphthalmia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TFAP2A NM_003220.2(TFAP2A): c.1037_1038delAA (p.Lys346Argfs) deletion Pathogenic GRCh37 Chromosome 6, 10398926: 10398927
2 TFAP2A NM_003220.2(TFAP2A): c.1037_1038delAA (p.Lys346Argfs) deletion Pathogenic GRCh38 Chromosome 6, 10398693: 10398694
3 MFRP NM_031433.3(MFRP): c.1615C> T (p.Arg539Cys) single nucleotide variant Likely pathogenic rs374823079 GRCh38 Chromosome 11, 119341673: 119341673
4 MFRP NM_031433.3(MFRP): c.1615C> T (p.Arg539Cys) single nucleotide variant Likely pathogenic rs374823079 GRCh37 Chromosome 11, 119212383: 119212383
5 ALDH1A3 NM_000693.3(ALDH1A3): c.1436G> A (p.Gly479Asp) single nucleotide variant Likely pathogenic GRCh38 Chromosome 15, 100908452: 100908452
6 ALDH1A3 NM_000693.3(ALDH1A3): c.1436G> A (p.Gly479Asp) single nucleotide variant Likely pathogenic GRCh37 Chromosome 15, 101448657: 101448657
7 PAX6 NM_000280.4(PAX6): c.131G> C (p.Arg44Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 11, 31824262: 31824262
8 PAX6 NM_000280.4(PAX6): c.131G> C (p.Arg44Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 11, 31802714: 31802714
9 RBP4 NM_006744.3(RBP4): c.394T> A (p.Tyr132Asn) single nucleotide variant Pathogenic GRCh37 Chromosome 10, 95353754: 95353754
10 RBP4 NM_006744.3(RBP4): c.394T> A (p.Tyr132Asn) single nucleotide variant Pathogenic GRCh38 Chromosome 10, 93593997: 93593997

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 transcription by RNA polymerase II GO:0006366 9.95 MITF OTX2 PAX6 RAX SIX6 SOX2
3 multicellular organism development GO:0007275 9.91 BMP4 GDF6 MITF OTX2 PAX6 RAX
4 heart development GO:0007507 9.88 BCOR BMP4 RBP4 STRA6
5 regulation of gene expression GO:0010468 9.86 BMP4 MITF PAX6 SOX2
6 animal organ morphogenesis GO:0009887 9.8 HCCS PAX6 SIX6
7 kidney development GO:0001822 9.79 BMP4 STRA6 TFAP2A
8 lung development GO:0030324 9.78 BMP4 RBP4 STRA6
9 negative regulation of epithelial cell proliferation GO:0050680 9.72 BMP4 PAX6 SOX2
10 blood vessel development GO:0001568 9.69 BMP4 PAX6 STRA6
11 pituitary gland development GO:0021983 9.67 BMP4 PAX6 SOX2
12 forebrain development GO:0030900 9.67 BMP4 OTX2 PAX6 SOX2
13 cell fate commitment GO:0045165 9.62 BMP4 MITF PAX6 SOX2
14 eye photoreceptor cell development GO:0042462 9.61 MFRP PAX6
15 pulmonary valve morphogenesis GO:0003184 9.6 BMP4 STRA6
16 eyelid development in camera-type eye GO:0061029 9.59 STRA6 TFAP2A
17 smooth muscle tissue development GO:0048745 9.58 BMP4 STRA6
18 telencephalon regionalization GO:0021978 9.54 BMP4 PAX6
19 retinol transport GO:0034633 9.48 RBP4 STRA6
20 eye development GO:0001654 9.46 PAX6 RBP4 SIX6 SOX2
21 visual perception GO:0007601 9.43 MFRP PAX6 RAX RBP4 SIX6 VSX2
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 9.86 MITF OTX2 PAX6 RAX SIX6 SOX2
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.72 MITF OTX2 PAX6 RAX TFAP2A
3 transcription regulatory region DNA binding GO:0044212 9.71 BCOR PAX6 SOX2 TFAP2A
4 sequence-specific DNA binding GO:0043565 9.63 OTX2 PAX6 RAX SOX2 TFAP2A VSX2
5 transcription regulatory region sequence-specific DNA binding GO:0000976 9.54 SIX6 SOX2 TFAP2A
6 retinol binding GO:0019841 9.46 RBP4 STRA6
7 retinal binding GO:0016918 9.43 RBP4 STRA6
8 proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001077 9.1 MITF OTX2 PAX6 RAX SOX2 TFAP2A
9 retinol transmembrane transporter activity GO:0034632 8.96 RBP4 STRA6
10 DNA binding GO:0003677 10.08 MITF OTX2 PAX6 RAX SIX6 SOX2

Sources for Microphthalmia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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