MCID: MCR013
MIFTS: 60

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
Nanophthalmos 12 58 36 6
Isolated Anophthalmia-Microphthalmia Syndrome 52 58 6
Isolated Microphthalmia-Anophthalmia-Coloboma 52 58
Nanophthalmia 12 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;
nanophthalmos
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; 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
MeSH 43 D008850
NCIt 49 C98989
SNOMED-CT 67 61142002
ICD10 32 Q11.2
ICD10 via Orphanet 33 Q11.0 Q11.1 Q11.2
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 microphthalmia, syndromic 9 and microphthalmia, isolated 3. An important gene associated with Microphthalmia is SIX6 (SIX Homeobox 6), and among its related pathways/superpathways are Mesodermal Commitment Pathway and Ectoderm Differentiation. Affiliated tissues include eye, skin and brain, 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 : 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: ?????? 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 636)
# Related Disease Score Top Affiliating Genes
1 microphthalmia, syndromic 9 35.5 VSX2 STRA6 RBP4 ALDH1A3
2 microphthalmia, isolated 3 35.4 VSX2 SOX2 RAX PAX6 OTX2 HCCS
3 microphthalmia, isolated 2 35.4 VSX2 SOX2 RAX PAX6 OTX2 HCCS
4 microphthalmia, syndromic 3 35.3 SOX2 SIX6
5 fryns microphthalmia syndrome 35.2 VSX2 SOX2 PAX6 OTX2
6 colobomatous microphthalmia 35.2 VSX2 TFAP2A STRA6 RBP4 RAX PAX6
7 coloboma of macula 34.3 VSX2 TFAP2A STRA6 SOX2 SIX6 RBP4
8 microphthalmia, isolated 6 34.3 VSX2 TMEM98 PRSS56 MFRP CRB1 BEST1
9 cataract 32.4 VSX2 SOX2 SIX6 PAX6 OTX2 BEST1
10 coloboma, ocular, autosomal dominant 32.2 RBP4 PAX6
11 sclerocornea 32.1 SIX6 RAX PAX6 HCCS
12 amblyopia 31.9 TFAP2A PRSS56 PAX6 OTX2
13 aniridia 1 31.7 VSX2 SOX2 PAX6 OTX2
14 sox2-related eye disorders 31.5 SOX2 SIX6
15 coloboma of iris 31.5 TFAP2A PAX6
16 persistent hyperplastic primary vitreous 31.4 VSX2 PAX6 OTX2
17 orbital cyst 31.3 RAX HCCS
18 lens subluxation 31.3 VSX2 TFAP2A PAX6
19 hypopituitarism 31.1 SOX2 PAX6 OTX2
20 congenital aphakia 31.0 RAX PAX6
21 enophthalmos 31.0 TFAP2A PRSS56
22 retinitis pigmentosa 30.9 VSX2 SOX2 PAX6 OTX2 MITF MFRP
23 septooptic dysplasia 30.9 SOX2 PAX6 OTX2
24 eye disease 30.9 VSX2 RBP4 PAX6 OTX2 MITF CRB1
25 fundus dystrophy 30.8 VSX2 STRA6 PRSS56 PAX6 OTX2 MFRP
26 macular degeneration, age-related, 1 30.8 VSX2 SOX2 PAX6 OTX2 CRB1 BEST1
27 optic disk drusen 30.8 PRSS56 MFRP CRB1
28 pathologic nystagmus 30.4 TFAP2A SIX6 PAX6 CRB1
29 inherited retinal disorder 30.4 MFRP CRB1 BEST1
30 microphthalmia, syndromic 1 12.8
31 microphthalmia, syndromic 6 12.7
32 retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma 12.7
33 bosma arhinia microphthalmia syndrome 12.7
34 microphthalmia, syndromic 5 12.6
35 microphthalmia, syndromic 2 12.6
36 microphthalmia, syndromic 8 12.6
37 microphthalmia with limb anomalies 12.6
38 microphthalmia, syndromic 13 12.6
39 microphthalmia, syndromic 12 12.6
40 microphthalmia, isolated, with coloboma 9 12.6
41 microphthalmia, isolated, with coloboma 3 12.6
42 microphthalmia, syndromic 4 12.6
43 microphthalmia, syndromic 11 12.6
44 microphthalmia, isolated 8 12.6
45 microphthalmia, isolated 4 12.5
46 microphthalmia, isolated 5 12.5
47 microphthalmia, isolated, with coloboma 5 12.5
48 microphthalmia, syndromic 10 12.5
49 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 12.5
50 microphthalmia, isolated 1 12.5

Graphical network of the top 20 diseases related to Microphthalmia:



Diseases related to Microphthalmia

Symptoms & Phenotypes for Microphthalmia

Human phenotypes related to Microphthalmia:

58 31 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 strabismus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000486
2 microphthalmia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000568
3 glaucoma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000501
4 high hypermetropia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008499
5 abnormal choroid morphology 31 hallmark (90%) HP:0000610
6 abnormality of retinal pigmentation 58 31 occasional (7.5%) Occasional (29-5%) HP:0007703
7 abnormality of the choroid 58 Very frequent (99-80%)

MGI Mouse Phenotypes related to Microphthalmia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.29 ALDH1A3 BEST1 CRB1 GDF3 HCCS MITF
2 embryo MP:0005380 10.14 ALDH1A3 GDF3 HCCS MITF OTX2 PAX6
3 mortality/aging MP:0010768 10.13 ALDH1A3 CRB1 GDF3 HCCS MITF OTX2
4 endocrine/exocrine gland MP:0005379 10.07 ALDH1A3 CRB1 MITF OTX2 PAX6 RBP4
5 craniofacial MP:0005382 10.06 ALDH1A3 MITF OTX2 PAX6 RAX SOX2
6 nervous system MP:0003631 10.03 CRB1 MFRP MITF OTX2 PAX6 PRSS56
7 digestive/alimentary MP:0005381 9.98 ALDH1A3 OTX2 PAX6 RAX RBP4 SOX2
8 normal MP:0002873 9.85 ALDH1A3 GDF3 HCCS MITF OTX2 PAX6
9 pigmentation MP:0001186 9.7 BEST1 CRB1 MFRP MITF OTX2 PAX6
10 vision/eye MP:0005391 9.53 ALDH1A3 BEST1 CRB1 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 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
9 Differences in Bone Cell Activity Between Rheumatoid Arthritis and Ankylosing Spondylitis Completed NCT01417455
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:

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

Publications for Microphthalmia

Articles related to Microphthalmia:

(show top 50) (show all 3441)
# 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. 54 61 6
19526372 2009
2
Mutations in the CHX10 gene in non-syndromic microphthalmia/anophthalmia patients from Qatar. 54 61 6
17661825 2007
3
A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation. 54 61 6
17167404 2006
4
CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds. 54 61 6
15257456 2004
5
Novel TMEM98 mutations in pedigrees with autosomal dominant nanophthalmos. 61 6
26392740 2015
6
Mutation in TMEM98 in a large white kindred with autosomal dominant nanophthalmos linked to 17p12-q12. 61 6
24852644 2014
7
ALDH1A3 mutations cause recessive anophthalmia and microphthalmia. 61 6
23312594 2013
8
Biometric and molecular characterization of clinically diagnosed posterior microphthalmos. 61 6
23127749 2013
9
Posterior microphthalmos as a genetically heterogeneous condition that can be allelic to nanophthalmos. 61 6
21670352 2011
10
Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalmia in humans and mice. 61 6
21532570 2011
11
Mutations in a novel serine protease PRSS56 in families with nanophthalmos. 61 6
21850159 2011
12
Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies. 61 6
19864492 2010
13
Compound heterozygosity for a novel and a recurrent MFRP gene mutation in a family with the nanophthalmos-retinitis pigmentosa complex. 61 6
19753314 2009
14
Confirmation of RAX gene involvement in human anophthalmia. 61 6
18783408 2008
15
A novel mutation confirms MFRP as the gene causing the syndrome of nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen. 61 6
18554571 2008
16
Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein. 61 6
15976030 2005
17
Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea. 61 6
14662654 2004
18
Microphthalmia/Anophthalmia/Coloboma Spectrum 61 6
20301552 2004
19
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. 61 6
11341888 2001
20
Isolated "clinical anophthalmia" in an extensively affected Arab kindred. 61 6
3378363 1988
21
Familial nanophthalmos. 61 6
1258954 1976
22
Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies. 6
23307924 2013
23
Mutations in TULP1, NR2E3, and MFRP genes in Indian families with autosomal recessive retinitis pigmentosa. 6
22605927 2012
24
Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease. 6
21397065 2011
25
A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy. 6
20361016 2010
26
Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes. 6
19129173 2009
27
Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome. 6
18425797 2008
28
Hereditary high hypermetropia in the Faroe Islands. 6
15823920 2005
29
Involvement of MITF-A, an alternative isoform of mi transcription factor, on the expression of tryptase gene in human mast cells. 54 61
20513998 2010
30
Microphthalmia, parkinsonism, and enhanced nociception in Pitx3 ( 416insG ) mice. 54 61
20033184 2010
31
Microphthalmia in Texel sheep is associated with a missense mutation in the paired-like homeodomain 3 (PITX3) gene. 54 61
20084168 2010
32
Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes. 54 61
20003547 2009
33
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
34
BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects. 54 61
19367324 2009
35
Mutations in the newly identified RAX regulatory sequence are not a frequent cause of micro/anophthalmia. 54 61
19397404 2009
36
A new locus for congenital cataract, microcornea, microphthalmia, and atypical iris coloboma maps to chromosome 2. 54 61
19004499 2009
37
Epithelioid angiomyolipoma of the kidney. 54 61
19121090 2009
38
Induction of microphthalmia transcription factor (Mitf) by forskolin and stimulation of melanin release in UISO-Mel-6 cells. 54 61
18028952 2008
39
Diadenosine tetraphosphate hydrolase is part of the transcriptional regulation network in immunologically activated mast cells. 54 61
18644867 2008
40
Molecular analysis of CHX10 and MFRP in Chinese subjects with primary angle closure glaucoma and short axial length eyes. 54 61
18648522 2008
41
Expression patterns of MITF during human cutaneous embryogenesis: evidence for bulge epithelial expression and persistence of dermal melanoblasts. 54 61
18312434 2008
42
PNL2 melanocytic marker in immunohistochemical evaluation of primary mucosal melanoma of the head and neck. 54 61
18228523 2008
43
Schwannoma of the kidney. 54 61
18391921 2008
44
SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development. 54 61
18285410 2008
45
Overexpression of Pax6 results in microphthalmia, retinal dysplasia and defective retinal ganglion cell axon guidance. 54 61
18507827 2008
46
Molecular links among the causative genes for ocular malformation: Otx2 and Sox2 coregulate Rax expression. 54 61
18385377 2008
47
[Mutation screening of MITF gene in patients with Waardenburg syndrome type 2]. 54 61
18424413 2008
48
Sclerosing PEComa: clinicopathologic analysis of a distinctive variant with a predilection for the retroperitoneum. 54 61
18223480 2008
49
Mutation in a novel connexin-like gene (Gjf1) in the mouse affects early lens development and causes a variable small-eye phenotype. 54 61
18385072 2008
50
Gene expression signature associated with BRAF mutations in human primary cutaneous melanomas. 54 61
19383316 2008

Variations for Microphthalmia

ClinVar genetic disease variations for Microphthalmia:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 46;X;t(X;19)(p22.1;p13.3)dnTranslocation Pathogenic 267811
2 RBP4 NM_006744.4(RBP4):c.394T>A (p.Tyr132Asn)SNV Pathogenic 430902 rs1329285216 10:95353754-95353754 10:93593997-93593997
3 PAX6 NM_000280.4(PAX6):c.131G>C (p.Arg44Pro)SNV Pathogenic 430901 rs1554985722 11:31824262-31824262 11:31802714-31802714
4 TFAP2A NM_001032280.3(TFAP2A):c.1019_1020del (p.Lys340fs)deletion Pathogenic 523459 rs1554110735 6:10398926-10398927 6:10398693-10398694
5 SIX6 NM_007374.3(SIX6):c.-227_572+235deldeletion Pathogenic 637953 14:60975886-60976919 14:60509168-60510201
6 MFRP NM_031433.4(MFRP):c.1615C>T (p.Arg539Cys)SNV Likely pathogenic 560469 rs374823079 11:119212383-119212383 11:119341673-119341673
7 ALDH1A3 NM_000693.4(ALDH1A3):c.1436G>A (p.Gly479Asp)SNV Likely pathogenic 585293 rs1567174297 15:101448657-101448657 15:100908452-100908452
8 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 protein-containing complex GO:0032991 9.35 STRA6 RBP4 OTX2 MITF CRB1
2 nuclear chromatin GO:0000790 9.23 VSX2 TFAP2A SOX2 SIX6 RAX PAX6

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.01 VSX2 TFAP2A SOX2 SIX6 RAX PAX6
2 positive regulation of transcription by RNA polymerase II GO:0045944 10 TFAP2A SOX2 RAX PAX6 OTX2 MITF
3 multicellular organism development GO:0007275 9.97 VSX2 SOX2 SIX6 RAX PAX6 OTX2
4 positive regulation of transcription, DNA-templated GO:0045893 9.91 TFAP2A SOX2 PAX6 OTX2 MITF
5 animal organ morphogenesis GO:0009887 9.71 SIX6 PAX6 HCCS
6 forebrain development GO:0030900 9.63 SOX2 PAX6 OTX2
7 cell fate commitment GO:0045165 9.61 SOX2 PAX6 MITF
8 camera-type eye development GO:0043010 9.55 STRA6 RAX PRSS56 PAX6 MITF
9 visual perception GO:0007601 9.5 VSX2 SIX6 RBP4 RAX PAX6 MFRP
10 eyelid development in camera-type eye GO:0061029 9.49 TFAP2A STRA6
11 primitive streak formation GO:0090009 9.48 OTX2 GDF3
12 eye photoreceptor cell development GO:0042462 9.43 PAX6 MFRP CRB1
13 retinol transport GO:0034633 9.32 STRA6 RBP4
14 eye development GO:0001654 9.02 SOX2 SIX6 RBP4 PAX6 GDF3

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.06 VSX2 TFAP2A SOX2 SIX6 RAX PAX6
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.77 TFAP2A RAX PAX6 OTX2 MITF
3 sequence-specific DNA binding GO:0043565 9.73 VSX2 TFAP2A SOX2 RAX PAX6 OTX2
4 transcription regulatory region sequence-specific DNA binding GO:0000976 9.58 TFAP2A SOX2 SIX6
5 retinol binding GO:0019841 9.43 STRA6 RBP4
6 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.43 TFAP2A SOX2 RAX PAX6 OTX2 MITF
7 retinal binding GO:0016918 9.32 STRA6 RBP4
8 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.23 VSX2 TFAP2A SOX2 SIX6 RAX PAX6
9 retinol transmembrane transporter activity GO:0034632 9.16 STRA6 RBP4

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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