MCID: MCR013
MIFTS: 57

Microphthalmia

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

Aliases & Classifications for Microphthalmia

MalaCards integrated aliases for Microphthalmia:

Name: Microphthalmia 12 74 52 25 36 29 54 6 15 39 17
Microphthalmos 12 25 43 32
Isolated Anophthalmia-Microphthalmia Syndrome 52 58 6
Isolated Microphthalmia-Anophthalmia-Coloboma 52 58
Microphthalmia-Anophthalmia-Coloboma Spectrum 52
Isolated Anophthalmia - Microphthalmia 52
Isolated Pure Microphthalmia 52
Primitive Anophthalmia 52
Simple Microphthalmos 12
Clinical Anophthalmia 52
Mac Spectrum 52

Characteristics:

Orphanet epidemiological data:

58
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;

Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:10629
KEGG 36 H01027
ICD9CM 34 743.1
MeSH 43 D008850
NCIt 49 C98989
SNOMED-CT 67 61142002
ICD10 32 Q11.2
ICD10 via Orphanet 33 Q11.0 Q11.1 Q11.2
Orphanet 58 ORPHA2542
UMLS 71 C0026010

Summaries for Microphthalmia

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2542 Definition A non-syndromic group of structural developmental eye defects characterized by the variable combination of microphthalmia, ocular coloboma, and anophthalmia, either unilaterally or bilaterally, with no other associated ocular conditions in the affected/contralateral eye, and no systemic anomalies. Epidemiology The prevalence of microphthalmia is 1:7,000, anophthalmia is 1:30,000 and coloboma is 1:5,000 live births, with combined prevalence 3-30:100,000 births. Associated malformations affect 32-93% of the patients. There is no clear predilection for ethnicity or gender. Clinical description Microphthalmia-anophthalmia-coloboma (MAC) consists of phenotypic continuum of congenital eye defects that are manifest at birth. In some cases, such as retinal coloboma or mild microphthalmia, detection may occur later in life. True anophthalmia is the abortion of eye development at the developing optic vesicle stage (3-4 weeks gestation) leading to absence of the eye, optic nerve and chiasm. Commonly clinical anophthalmia (also referred to as severe microphthalmia) occurs, where a small cystic remnant is detectable on pathology/imaging . Nanophthalmos and posterior microphthalmia, are rare subsets of microphthalmia, where overall the eye is structurally normal but it has a reduced axial length of <20 mm with high hypermetropia. Ocular coloboma may involve the inferonasal aspect of the eye, including the iris, ciliary body, zonules, retina, retinal pigment epithelium (RPE), choroid and/or optic disc. Etiology MAC has a complex etiology, with monogenic, chromosomal and environmental causes. SOX2 , OTX2 and STRA6 variants account for 75% of bilateral anophthalmia/severe microphthalmia. Chromosomal abnormalities account for 20-30% of MAC. Environmental factors associated with anophthalmia include maternally-acquired infections, smoking and perinatal exposure to certain medications. Maternal vitamin A deficiency, alcohol abuse and use of teratogenic drugs during pregnancy have been linked to coloboma and microphthalmia. Diagnostic methods Postnatal diagnosis can be made through clinical examination, with confirmation of true/clinical anophthalmia through MRI brain and orbit imaging. Molecular diagnosis can be made through genetic testing , such as array comparative genomic hybridization (aCGH) or whole exome/genome sequencing . Differential diagnosis Differential diagnoses includes aniridia, anterior segment dysgenesis, congenital corneal opacity, sclerocornea, cryptophthalmos, cyclopia and congenital cystic eye. MAC may also occur as part of various syndromes , and thus examination by specialists for the presence of systemic features (e.g. associated neurological or pituitary defects) is recommended. Genetic diagnosis may aid the identification of potential systemic anomalies. Antenatal diagnosis Prenatal diagnosis of anophthalmia or microphthalmia may be made through 2D or 3D ultrasonography during the second trimester (or 12 weeks post-conception with a transvaginal ultrasound) or fetal magnetic resonance imaging to visualize the orbit. Genetic counseling Genetic counselling can be challenging due to the range of known genetic causes and phenotypic variability. Prediction of inheritance pattern is often difficult, due to de novo changes, mosaicism and non-penetrance. If a genetic diagnosis is established, informed family planning advice can be provided including prenatal and preimplantation diagnosis . Management and treatment There is no treatment for MAC patients. They should be managed by a multidisciplinary team of specialists, including ophthalmologists , pediatricians and clinical geneticists. If there is visual potential, children should be monitored to maximize vision by correcting refractive error or squints, and preventing amblyopia. Fundus examinations are required in patients with chorioretinal coloboma as it is associated with a risk of retinal detachment. Low vision should be supported using visual aids. Significant microphthalmic or anophthalmic eyes may undergo socket expansion using enlarging cosmetic shells/conformers to minimize facial deformity. Prognosis Isolated MAC are structural birth defects with no treatment available. Visit the Orphanet disease page for more resources.

MalaCards based summary : Microphthalmia, also known as microphthalmos, is related to syndromic microphthalmia and microphthalmia, isolated 2. An important gene associated with Microphthalmia is SIX6 (SIX Homeobox 6), and among its related pathways/superpathways are Mesodermal Commitment Pathway and Neural Crest Differentiation. Affiliated tissues include eye, skin and retina, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

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 : 36 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 : 74 Microphthalmia (Greek: μικρός mikros = 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 616)
# Related Disease Score Top Affiliating Genes
1 syndromic microphthalmia 35.3 VSX2 STRA6 SOX2 SIX6 PAX6 OTX2
2 microphthalmia, isolated 2 35.3 VSX2 SOX2 RAX PAX6 OTX2 HCCS
3 microphthalmia, isolated 3 35.3 VSX2 SOX2 RAX PAX6 OTX2 HCCS
4 microphthalmia, syndromic 3 35.2 SOX2 SIX6
5 colobomatous microphthalmia 35.2 VSX2 TFAP2A TENM3 STRA6 RBP4 RAX
6 fryns microphthalmia syndrome 35.1 VSX2 SOX2 PAX6 OTX2
7 isolated microphthalmia 35.1 VSX2 STRA6 SIX6 RAX OTX2 GDF6
8 coloboma of macula 34.8 VSX2 TFAP2A STRA6 SOX2 SMOC1 SIX6
9 microphthalmia, isolated, with coloboma 6 34.8 GDF6 GDF3
10 nanophthalmos 33.3 VSX2 SIX6 PAX6 OTX2
11 charge syndrome 33.3 TFAP2A SOX2 PAX6 OTX2 BMP4
12 peters-plus syndrome 33.3 VSX2 SOX2 PITX3 PAX6 BMP4
13 cataract 32.4 VSX2 SOX2 SIX6 PITX3 PAX6 OTX2
14 coloboma, ocular, autosomal dominant 32.1 TFAP2A PAX6
15 sclerocornea 32.0 TENM3 SIX6 RAX PAX6 HCCS
16 amblyopia 31.7 TFAP2A PITX3 PAX6 OTX2
17 aniridia 1 31.7 VSX2 SOX2 PITX3 PAX6 OTX2
18 anterior segment dysgenesis 31.5 TENM3 PITX3 PAX6
19 sox2-related eye disorders 31.5 SOX2 SIX6
20 coloboma of iris 31.4 TFAP2A PAX6
21 optic nerve hypoplasia, bilateral 31.4 VSX2 SIX6 PAX6 OTX2
22 fundus dystrophy 31.4 VSX2 STRA6 SOX2 SIX6 PAX6 OTX2
23 persistent hyperplastic primary vitreous 31.3 VSX2 PAX6 OTX2
24 orbital cyst 31.3 RAX HCCS
25 eye disease 31.2 VSX2 RBP4 PAX6 OTX2 MITF
26 congenital aphakia 31.1 VSX2 RAX PAX6
27 axenfeld-rieger syndrome 31.1 VSX2 RAX PITX3 PAX6 BMP4
28 hypopituitarism 31.0 SOX2 PAX6 OTX2
29 isolated klippel-feil syndrome 30.8 GDF6 GDF3
30 septooptic dysplasia 30.7 SOX2 PAX6 OTX2
31 pathologic nystagmus 30.6 TFAP2A SIX6 PAX6
32 ablepharon-macrostomia syndrome 30.4 SOX2 PAX6
33 microphthalmia, syndromic 1 12.8
34 microphthalmia, syndromic 9 12.7
35 microphthalmia, syndromic 6 12.7
36 microphthalmia, syndromic 2 12.7
37 microphthalmia, syndromic 5 12.7
38 microphthalmia, syndromic 8 12.7
39 bosma arhinia microphthalmia syndrome 12.7
40 microphthalmia, isolated, with coloboma 9 12.6
41 microphthalmia, syndromic 13 12.6
42 microphthalmia, syndromic 12 12.6
43 microphthalmia with limb anomalies 12.6
44 microphthalmia, syndromic 4 12.6
45 microphthalmia, syndromic 11 12.6
46 microphthalmia, isolated 6 12.6
47 microphthalmia, syndromic 10 12.6
48 microphthalmia, isolated, with coloboma 3 12.6
49 microphthalmia, isolated 8 12.6
50 microphthalmia, isolated 4 12.6

Graphical network of the top 20 diseases related to Microphthalmia:



Diseases related to Microphthalmia

Symptoms & Phenotypes for Microphthalmia

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

26 (show all 49)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 10.13 RAX
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-105 10.13 PITX3 RAX
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 10.13 TFAP2A
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 10.13 OTX2 PITX3 RAX
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 10.13 OTX2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-151 10.13 PITX3
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 10.13 RAX
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-159 10.13 RAX
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 10.13 RAX
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-168 10.13 PITX3
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-177 10.13 RAX
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-182 10.13 TFAP2A
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-191 10.13 PITX3
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-194 10.13 OTX2
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-21 10.13 TFAP2A
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-214 10.13 OTX2
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 10.13 RAX
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-22 10.13 PITX3
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 10.13 RAX
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-42 10.13 RAX
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-50 10.13 TFAP2A
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 10.13 TFAP2A
23 Decreased shRNA abundance (Z-score < -2) GR00366-A-65 10.13 PITX3
24 Decreased shRNA abundance (Z-score < -2) GR00366-A-70 10.13 TFAP2A
25 Decreased shRNA abundance (Z-score < -2) GR00366-A-77 10.13 OTX2 PITX3
26 Decreased shRNA abundance (Z-score < -2) GR00366-A-85 10.13 RAX
27 Increased shRNA abundance (Z-score > 2) GR00366-A-119 9.72 OTX2
28 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.72 VSX2
29 Increased shRNA abundance (Z-score > 2) GR00366-A-125 9.72 OTX2
30 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.72 MITF
31 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.72 MITF
32 Increased shRNA abundance (Z-score > 2) GR00366-A-15 9.72 MITF
33 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.72 HCCS
34 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.72 OTX2
35 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.72 BCOR
36 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.72 OTX2
37 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.72 MITF
38 Increased shRNA abundance (Z-score > 2) GR00366-A-206 9.72 OTX2
39 Increased shRNA abundance (Z-score > 2) GR00366-A-210 9.72 BCOR
40 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.72 HCCS MITF VSX2
41 Increased shRNA abundance (Z-score > 2) GR00366-A-22 9.72 MITF
42 Increased shRNA abundance (Z-score > 2) GR00366-A-26 9.72 VSX2
43 Increased shRNA abundance (Z-score > 2) GR00366-A-68 9.72 HCCS
44 Increased shRNA abundance (Z-score > 2) GR00366-A-75 9.72 MITF
45 Increased shRNA abundance (Z-score > 2) GR00366-A-77 9.72 VSX2
46 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.72 BCOR
47 Increased shRNA abundance (Z-score > 2) GR00366-A-91 9.72 VSX2
48 Increased shRNA abundance (Z-score > 2) GR00366-A-95 9.72 BCOR
49 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.72 OTX2

MGI Mouse Phenotypes related to Microphthalmia:

45 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.46 ALDH1A3 BCOR BMP4 DYRK1A GDF3 HCCS
2 growth/size/body region MP:0005378 10.4 ALDH1A3 BCOR BMP4 DYRK1A GDF3 GDF6
3 mortality/aging MP:0010768 10.39 ALDH1A3 BCOR BMP4 DYRK1A GDF3 GDF6
4 embryo MP:0005380 10.37 ALDH1A3 BCOR BMP4 DYRK1A GDF3 HCCS
5 nervous system MP:0003631 10.36 BCOR BMP4 DYRK1A GDF6 MITF OTX2
6 behavior/neurological MP:0005386 10.35 ALDH1A3 BMP4 DYRK1A MITF OTX2 PAX6
7 craniofacial MP:0005382 10.29 ALDH1A3 BMP4 GDF6 MITF OTX2 PAX6
8 endocrine/exocrine gland MP:0005379 10.29 ALDH1A3 BMP4 DYRK1A MITF OTX2 PAX6
9 cardiovascular system MP:0005385 10.27 BCOR BMP4 DYRK1A HCCS OTX2 PAX6
10 digestive/alimentary MP:0005381 10.19 ALDH1A3 BMP4 OTX2 PAX6 RAX RBP4
11 normal MP:0002873 10.11 ALDH1A3 BMP4 GDF3 HCCS MITF OTX2
12 hearing/vestibular/ear MP:0005377 10.02 BMP4 GDF6 MITF OTX2 PAX6 SOX2
13 pigmentation MP:0001186 10.02 MITF OTX2 PAX6 PITX3 RBP4 SMOC1
14 no phenotypic analysis MP:0003012 9.95 BMP4 MITF PITX3 RAX SOX2 STRA6
15 reproductive system MP:0005389 9.91 BMP4 DYRK1A MITF OTX2 PAX6 PITX3
16 skeleton MP:0005390 9.73 ALDH1A3 BMP4 GDF6 MITF OTX2 PAX6
17 respiratory system MP:0005388 9.7 ALDH1A3 BMP4 OTX2 PAX6 PITX3 SOX2
18 vision/eye MP:0005391 9.5 ALDH1A3 BMP4 GDF6 MITF OTX2 PAX6

Drugs & Therapeutics for Microphthalmia

Interventional clinical trials:

(show all 16)
# 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 Multicenter Neonatal Eye Disease Screening in China Unknown status NCT02851251
3 Melanocyte Features and Its Influence in Pigmentation in Basal Cell Carcinoma in the Mexican Population Unknown status NCT02576769
4 Role of SLURP-1 in Melanoma and Melanoma Stem Cells Unknown status NCT01281722
5 Fundus Changes in the Microphthalmy Eyes Completed NCT00811512
6 Molecular Analysis of Microphthalmia/Anophthalmia and Related Disorders Completed NCT00011843
7 A Long-term Postoperative Outcome After Bilateral Congenital Cataract Surgery in Eyes With Microphthalmos Completed NCT01818037
8 Health- and Vision-Related Quality of Life in Children and Young People With Childhood Glaucoma, Childhood Cataract and Congenital Eye Defects Completed NCT02490267
9 Differences in Bone Cell Activity Between Rheumatoid Arthritis and Ankylosing Spondylitis Completed NCT01417455
10 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
11 Pathogenesis of Selected X-Linked Dominant Disorders and New Strategies to Identify the Gene Mutated in Aicardi Syndrome Recruiting NCT00697411
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 Contribution of the Exome Sequencing in Antenatal Period Behind Ultrasound Features Suggestive of a Rare Genetic Disease Not yet recruiting NCT04406480
16 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:

40
Eye, Skin, Retina, Brain, Pituitary, Bone, Testes

Publications for Microphthalmia

Articles related to Microphthalmia:

(show top 50) (show all 3894)
# Title Authors PMID Year
1
A genome-wide linkage scan in Tunisian families identifies a novel locus for non-syndromic posterior microphthalmia to chromosome 2q37.1. 6 61 54
19526372 2009
2
Mutations in the CHX10 gene in non-syndromic microphthalmia/anophthalmia patients from Qatar. 6 54 61
17661825 2007
3
CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds. 6 54 61
15257456 2004
4
Biometric and molecular characterization of clinically diagnosed posterior microphthalmos. 61 6
23127749 2013
5
ALDH1A3 mutations cause recessive anophthalmia and microphthalmia. 61 6
23312594 2013
6
Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalmia in humans and mice. 61 6
21532570 2011
7
Posterior microphthalmos as a genetically heterogeneous condition that can be allelic to nanophthalmos. 61 6
21670352 2011
8
Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease. 6 61
21397065 2011
9
Mutations in a novel serine protease PRSS56 in families with nanophthalmos. 61 6
21850159 2011
10
Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies. 61 6
19864492 2010
11
Confirmation of RAX gene involvement in human anophthalmia. 61 6
18783408 2008
12
Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea. 6 61
14662654 2004
13
Microphthalmia/Anophthalmia/Coloboma Spectrum – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY 61 6
20301552 2004
14
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. 6 61
11341888 2001
15
Isolated "clinical anophthalmia" in an extensively affected Arab kindred. 61 6
3378363 1988
16
Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies. 6
23307924 2013
17
Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes. 6
19129173 2009
18
Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome. 6
18425797 2008
19
Hereditary high hypermetropia in the Faroe Islands. 6
15823920 2005
20
Involvement of MITF-A, an alternative isoform of mi transcription factor, on the expression of tryptase gene in human mast cells. 61 54
20513998 2010
21
Microphthalmia, parkinsonism, and enhanced nociception in Pitx3 ( 416insG ) mice. 61 54
20033184 2010
22
Microphthalmia in Texel sheep is associated with a missense mutation in the paired-like homeodomain 3 (PITX3) gene. 54 61
20084168 2010
23
Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes. 61 54
20003547 2009
24
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. 54 61
19801646 2009
25
BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects. 61 54
19367324 2009
26
Mutations in the newly identified RAX regulatory sequence are not a frequent cause of micro/anophthalmia. 54 61
19397404 2009
27
A new locus for congenital cataract, microcornea, microphthalmia, and atypical iris coloboma maps to chromosome 2. 54 61
19004499 2009
28
Epithelioid angiomyolipoma of the kidney. 61 54
19121090 2009
29
Diadenosine tetraphosphate hydrolase is part of the transcriptional regulation network in immunologically activated mast cells. 54 61
18644867 2008
30
Induction of microphthalmia transcription factor (Mitf) by forskolin and stimulation of melanin release in UISO-Mel-6 cells. 61 54
18028952 2008
31
Expression patterns of MITF during human cutaneous embryogenesis: evidence for bulge epithelial expression and persistence of dermal melanoblasts. 54 61
18312434 2008
32
Molecular analysis of CHX10 and MFRP in Chinese subjects with primary angle closure glaucoma and short axial length eyes. 54 61
18648522 2008
33
PNL2 melanocytic marker in immunohistochemical evaluation of primary mucosal melanoma of the head and neck. 54 61
18228523 2008
34
Schwannoma of the kidney. 61 54
18391921 2008
35
SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development. 54 61
18285410 2008
36
Overexpression of Pax6 results in microphthalmia, retinal dysplasia and defective retinal ganglion cell axon guidance. 54 61
18507827 2008
37
Molecular links among the causative genes for ocular malformation: Otx2 and Sox2 coregulate Rax expression. 61 54
18385377 2008
38
[Mutation screening of MITF gene in patients with Waardenburg syndrome type 2]. 54 61
18424413 2008
39
Unique effects of KIT D816V in BaF3 cells: induction of cluster formation, histamine synthesis, and early mast cell differentiation antigens. 54 61
18390729 2008
40
Gene expression signature associated with BRAF mutations in human primary cutaneous melanomas. 61 54
19383316 2008
41
Sclerosing PEComa: clinicopathologic analysis of a distinctive variant with a predilection for the retroperitoneum. 54 61
18223480 2008
42
Mutation in a novel connexin-like gene (Gjf1) in the mouse affects early lens development and causes a variable small-eye phenotype. 61 54
18385072 2008
43
Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia. 61 54
18385794 2008
44
Clear cell sarcoma of soft tissue: a clinicopathologic, immunohistochemical, and molecular analysis of 33 cases. 61 54
18300804 2008
45
Cutaneous melanocytoneuroma: the first case of a distinctive intraneural tumor with dual nerve sheath and melanocytic differentiation. 54 61
17997740 2007
46
SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions. 61 54
17522144 2007
47
Anophthalmia and microphthalmia. 54 61
18039390 2007
48
[Tumors showing perivascular epithelioid cell differentiation: a clinicopathologic study of 39 cases]. 54 61
18261305 2007
49
Functional analysis of human mutations in homeodomain transcription factor PITX3. 54 61
17888164 2007
50
HCCS loss-of-function missense mutation in a female with bilateral microphthalmia and sclerocornea: a novel gene for severe ocular malformations? 61 54
17893649 2007

Variations for Microphthalmia

ClinVar genetic disease variations for Microphthalmia:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RBP4 NM_006744.4(RBP4):c.394T>A (p.Tyr132Asn)SNV Pathogenic 430902 rs1329285216 10:95353754-95353754 10:93593997-93593997
2 PAX6 NM_000280.4(PAX6):c.131G>C (p.Arg44Pro)SNV Pathogenic 430901 rs1554985722 11:31824262-31824262 11:31802714-31802714
3 TFAP2A NM_001032280.3(TFAP2A):c.1019_1020del (p.Lys340fs)deletion Pathogenic 523459 rs1554110735 6:10398926-10398927 6:10398693-10398694
4 SIX6 NM_007374.3(SIX6):c.-227_572+235deldeletion Pathogenic 637953 14:60975886-60976919 14:60509168-60510201
5 DYRK1A NM_001347721.2(DYRK1A):c.586C>T (p.Arg196Ter)SNV Pathogenic 162153 rs724159949 21:38858865-38858865 21:37486563-37486563
6 46;X;t(X;19)(p22.1;p13.3)dnTranslocation Pathogenic 267811
7 ALDH1A3 NM_000693.4(ALDH1A3):c.1436G>A (p.Gly479Asp)SNV Likely pathogenic 585293 rs1567174297 15:101448657-101448657 15:100908452-100908452
8 MIP NM_012064.4(MIP):c.513del (p.His172fs)deletion Uncertain significance 834061 12:56847387-56847387 12:56453603-56453603
9 VSX2 NM_182894.3(VSX2):c.679C>T (p.Arg227Trp)SNV Uncertain significance 14862 rs121912545 14:74726404-74726404 14:74259701-74259701

Copy number variations for Microphthalmia from CNVD:

7
# CNVD ID Chromosome 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:

# Name GO ID Score Top Affiliating Genes
1 nuclear chromatin GO:0000790 9.28 VSX2 TFAP2A SOX2 SIX6 RAX PITX3

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

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.13 VSX2 TFAP2A SOX2 SIX6 RAX PITX3
2 cell differentiation GO:0030154 10.11 TENM3 SOX2 SMOC1 PAX6 MITF BMP4
3 negative regulation of transcription by RNA polymerase II GO:0000122 10.05 VSX2 TFAP2A SOX2 PAX6 MITF BMP4
4 positive regulation of transcription by RNA polymerase II GO:0045944 9.97 VSX2 TFAP2A SOX2 RAX PITX3 PAX6
5 regulation of gene expression GO:0010468 9.95 SOX2 PITX3 PAX6 MITF BMP4
6 heart development GO:0007507 9.91 STRA6 RBP4 BMP4 BCOR
7 animal organ morphogenesis GO:0009887 9.84 SIX6 PITX3 PAX6 HCCS
8 visual perception GO:0007601 9.83 VSX2 SIX6 RBP4 RAX PAX6
9 kidney development GO:0001822 9.82 TFAP2A STRA6 BMP4
10 positive regulation of transcription, DNA-templated GO:0045893 9.81 TFAP2A SOX2 PITX3 PAX6 OTX2 MITF
11 lung development GO:0030324 9.8 STRA6 RBP4 BMP4
12 BMP signaling pathway GO:0030509 9.79 GDF6 GDF3 BMP4
13 negative regulation of epithelial cell proliferation GO:0050680 9.77 SOX2 PAX6 BMP4
14 blood vessel development GO:0001568 9.76 STRA6 PAX6 BMP4
15 SMAD protein signal transduction GO:0060395 9.75 GDF6 GDF3 BMP4
16 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.73 GDF6 GDF3 BMP4
17 multicellular organism development GO:0007275 9.73 VSX2 SOX2 SMOC1 SIX6 RAX PITX3
18 forebrain development GO:0030900 9.71 SOX2 PAX6 OTX2 BMP4
19 pituitary gland development GO:0021983 9.67 SOX2 PAX6 BMP4
20 cell fate commitment GO:0045165 9.67 SOX2 PAX6 MITF BMP4
21 camera-type eye morphogenesis GO:0048593 9.65 TENM3 BMP4
22 camera-type eye development GO:0043010 9.65 STRA6 RAX PAX6 MITF BMP4
23 pulmonary valve morphogenesis GO:0003184 9.63 STRA6 BMP4
24 smooth muscle tissue development GO:0048745 9.62 STRA6 BMP4
25 eyelid development in camera-type eye GO:0061029 9.62 TFAP2A STRA6
26 primitive streak formation GO:0090009 9.6 OTX2 GDF3
27 telencephalon regionalization GO:0021978 9.57 PAX6 BMP4
28 regulation of cell fate commitment GO:0010453 9.52 GDF3 BMP4
29 retinol transport GO:0034633 9.46 STRA6 RBP4
30 eye development GO:0001654 9.1 SOX2 SMOC1 SIX6 RBP4 PAX6 GDF3

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.02 VSX2 TFAP2A SOX2 SIX6 RAX PITX3
2 DNA-binding transcription factor activity GO:0003700 9.95 TFAP2A SOX2 PITX3 PAX6 OTX2 MITF
3 transcription regulatory region sequence-specific DNA binding GO:0000976 9.8 TFAP2A SOX2 SIX6 BCOR
4 sequence-specific DNA binding GO:0043565 9.8 VSX2 TFAP2A SOX2 RAX PITX3 PAX6
5 transcription regulatory region DNA binding GO:0044212 9.71 TFAP2A SOX2 PAX6 BCOR
6 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.7 TFAP2A SIX6 RAX PITX3 PAX6 OTX2
7 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.5 TFAP2A SOX2 RAX PITX3 PAX6 OTX2
8 retinol binding GO:0019841 9.46 STRA6 RBP4
9 retinal binding GO:0016918 9.43 STRA6 RBP4
10 retinol transmembrane transporter activity GO:0034632 9.32 STRA6 RBP4
11 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.28 VSX2 TFAP2A SOX2 SIX6 RAX PITX3

Sources for Microphthalmia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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