MCOPS3
MCID: MCR241
MIFTS: 55

Microphthalmia, Syndromic 3 (MCOPS3)

Categories: Cardiovascular diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Oral diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Microphthalmia, Syndromic 3

MalaCards integrated aliases for Microphthalmia, Syndromic 3:

Name: Microphthalmia, Syndromic 3 57 13 44 70
Aeg Syndrome 57 12 20 43 72
Mcops3 57 12 20 58 72
Anophthalmia/microphthalmia-Esophageal Atresia Syndrome 12 58 29 6
Microphthalmia and Esophageal Atresia Syndrome 57 12 20 72
Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System 57 29 6
Anophthalmia-Esophageal-Genital Syndrome 57 43 72
Syndromic Microphthalmia 3 12 43 15
Sox2 Anophthalmia Syndrome 12 20 43
Anophthalmia Clinical with Associated Anomalies 12 20
Anophthalmia Microphthalmia Esophageal Atresia 12 20
Anophthalmia Esophageal Genital Syndrome 12 20
Syndromic Microphthalmia Type 3 12 58
Sox2-Related Eye Disorders 20 43
Anophthalmia, Clinical, with Associated Anomalies 57
Anophthalmia/microphthalmia-Esophageal Atresia 72
Syndromic Microphthalmia, Type 3 20
Microphthalmia Syndromic, Type 3 39
Microphthalmia, Syndromic, 3 72

Characteristics:

Orphanet epidemiological data:

58
anophthalmia/microphthalmia-esophageal atresia syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
microphthalmia, syndromic 3:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for Microphthalmia, Syndromic 3

MedlinePlus Genetics : 43 SOX2 anophthalmia syndrome is a rare disorder characterized by abnormal development of the eyes and other parts of the body.People with SOX2 anophthalmia syndrome are usually born without eyeballs (anophthalmia), although some individuals have small eyes (microphthalmia). The term anophthalmia is often used interchangeably with severe microphthalmia because individuals with no visible eyeballs typically have some remaining eye tissue. These eye problems can cause significant vision loss. While both eyes are usually affected in SOX2 anophthalmia syndrome, one eye may be more affected than the other.Individuals with SOX2 anophthalmia syndrome may also have seizures, brain abnormalities, slow growth, delayed development of motor skills (such as walking), and mild to severe learning disabilities. Some people with this condition are born with a blocked esophagus (esophageal atresia), which is often accompanied by an abnormal connection between the esophagus and the trachea (tracheoesophageal fistula). Genital abnormalities have been described in affected individuals, especially males. Male genital abnormalities include undescended testes (cryptorchidism) and an unusually small penis (micropenis).

MalaCards based summary : Microphthalmia, Syndromic 3, also known as aeg syndrome, is related to fryns microphthalmia syndrome and sox2 disorder. An important gene associated with Microphthalmia, Syndromic 3 is SOX2 (SRY-Box Transcription Factor 2), and among its related pathways/superpathways are Ectoderm Differentiation and Neural Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include eye, pituitary and testes, and related phenotypes are anophthalmia and microphthalmia

Disease Ontology : 12 A syndromic microphthalmia characterized by clinical anophthalmia or microphthalmia, with various extraocular symptoms that has material basis in heterozygous mutation in SOX2 on chromosome 3q26.33.

GARD : 20 Syndromic microphthalmia, type 3 is a rare condition that affects the eyes and other parts of the body. Babies with this condition are generally born without eyeballs (anophthalmia) or with eyes that are unusually small (microphthalmia). Both of these abnormalities can be associated with severe vision loss. Other signs and symptoms of syndromic microphthalmia, type 3 may include seizures, brain malformations, esophageal atresia, delayed motor development, learning disabilities, and sensorineural hearing loss. The condition is caused by changes ( mutations ) in the SOX2 gene and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person.

OMIM® : 57 Syndromic microphthalmia-3 (MCOPS3) is characterized by clinical anophthalmia or microphthalmia with or without defects of the optic nerve, optic chiasm, and optic tract. Extraocular abnormalities include brain anomalies, seizures, motor disability, neurocognitive delays, sensorineural hearing loss, and esophageal atresia. Hypoplasia of the anterior pituitary is another major complication, which frequently results in growth hormone deficiency; however, gonadotropin deficiency is likely to be the most consistent endocrinopathy in patients with SOX2 mutation (summary by Numakura et al., 2010). (206900) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 Microphthalmia, syndromic, 3: A disease characterized by the rare association of malformations including uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with trachoesophageal fistula. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities.

Related Diseases for Microphthalmia, Syndromic 3

Diseases in the Syndromic Microphthalmia family:

Microphthalmia, Syndromic 3 Microphthalmia, Syndromic 2
Microphthalmia, Syndromic 13 Microphthalmia, Syndromic 1
Microphthalmia, Syndromic 9 Microphthalmia, Syndromic 8
Microphthalmia, Syndromic 6 Microphthalmia, Syndromic 5
Microphthalmia, Syndromic 10 Microphthalmia, Syndromic 11
Microphthalmia, Syndromic 12

Diseases related to Microphthalmia, Syndromic 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 71)
# Related Disease Score Top Affiliating Genes
1 fryns microphthalmia syndrome 30.7 VSX2 SOX2 PAX6 OTX2
2 sox2 disorder 30.7 SOX2 SIX6
3 sclerocornea 30.5 SIX6 PAX6 FOXE3
4 esophageal atresia 30.4 SOX2 SIX6 SHH FOXF1 CHD7
5 pituitary hypoplasia 30.4 SOX3 SHH OTX2
6 syndromic microphthalmia 30.1 VSX2 STRA6 SOX2 SIX6 PAX6 OTX2
7 fundus dystrophy 29.9 VSX2 STRA6 SOX2 SIX6 SHH PAX6
8 coloboma of macula 29.5 VSX2 STRA6 SOX2 SMOC1 SIX6 SHH
9 microphthalmia 29.3 VSX2 STRA6 SOX2-OT SOX2 SMOC1 SIX6
10 anophthalmos with limb anomalies 11.4
11 medullomyoblastoma 10.3 SHH OTX2
12 macular degeneration, age-related, 7 10.3 SOX2 PAX6 OTX2
13 aniseikonia 10.3 PAX6 FOXE3
14 nodular medulloblastoma 10.3 SHH OTX2
15 spastic ataxia 8 10.3 PAX6 OTX2
16 nystagmus 7, congenital, autosomal dominant 10.3 SIX6 PAX6
17 branchiootorenal syndrome 10.3 SIX6 OTX2 CHD7
18 intestinal atresia 10.3 PAX6 MTHFSD FOXF1
19 congenital aphakia 10.3 VSX2 PAX6 FOXE3
20 charge syndrome 10.3 SOX2 OTX2 CHD7
21 complex chromosomal rearrangement 10.3 SOX3 SIX6 OTX2
22 pallister-hall syndrome 10.3 SHH MTHFSD FOXF1
23 infratentorial cancer 10.3 SOX2 SHH OTX2
24 iris disease 10.2 PAX6 OTX2 FOXE3
25 amblyopia 10.2 PAX6 OTX2 FOXE3
26 adamantinous craniopharyngioma 10.2 SOX2 SHH
27 lymphedema-distichiasis syndrome 10.2 FOXL1 FOXF1 FOXE3
28 large cell medulloblastoma 10.2 SHH PAX6
29 optic nerve hypoplasia, bilateral 10.2 VSX2 SIX6 PAX6 OTX2
30 anus, imperforate 10.2 SHH MTHFSD FOXF1 CHD7
31 vacterl association 10.2 SHH MTHFSD FOXF1 CHD7
32 aplasia cutis congenita, nonsyndromic 10.2
33 keratitis, hereditary 10.2 VSX2 PAX6 FOXE3
34 esotropia 10.2 PAX6 OTX2 FOXE3 CHD7
35 physical disorder 10.2 SHH PAX6 CHD7
36 persistent hyperplastic primary vitreous 10.2 VSX2 PAX6 OTX2 FOXE3
37 pathologic nystagmus 10.2 SIX6 PAX6 OTX2
38 nystagmus 2, congenital, autosomal dominant 10.2 SIX6 PAX6
39 diaphragmatic hernia, congenital 10.2 STRA6 SHH FOXF1
40 waardenburg's syndrome 10.2 SOX8 POU3F2 PAX6 CHD7
41 microphthalmia, syndromic 8 10.2 VSX2 STRA6 SOX2 PAX6 OTX2
42 microphthalmia, isolated 3 10.2 VSX2 STRA6 SOX2 PAX6 OTX2
43 microphthalmia, isolated 2 10.2 VSX2 STRA6 SOX2 PAX6 OTX2
44 feingold syndrome 1 10.1 SOX2 SHH MTHFSD FOXF1 CHD7
45 isolated microphthalmia 10.1 VSX2 STRA6 SIX6 OTX2 FOXE3
46 hypopituitarism 10.1 SOX3 SOX2 SHH OTX2
47 nystagmus 4, congenital, autosomal dominant 10.1 SIX6 PAX6
48 aniridia 1 10.1 VSX2 SOX2 PAX6 OTX2 FOXE3
49 pancreas, annular 10.1 STRA6 SHH MTHFSD FOXL1 FOXF1
50 nanophthalmos 10.1 VSX2 SIX6 PAX6 OTX2 FOXE3

Graphical network of the top 20 diseases related to Microphthalmia, Syndromic 3:



Diseases related to Microphthalmia, Syndromic 3

Symptoms & Phenotypes for Microphthalmia, Syndromic 3

Human phenotypes related to Microphthalmia, Syndromic 3:

58 31 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 anophthalmia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000528
2 microphthalmia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000568
3 tracheoesophageal fistula 58 31 hallmark (90%) Very frequent (99-80%) HP:0002575
4 esophageal atresia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002032
5 agenesis of corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0001274
6 hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000365
7 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
8 visual loss 58 31 frequent (33%) Frequent (79-30%) HP:0000572
9 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
10 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
11 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
12 growth delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001510
13 iris coloboma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000612
14 patent ductus arteriosus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001643
15 holoprosencephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001360
16 hemivertebrae 58 31 occasional (7.5%) Occasional (29-5%) HP:0002937
17 hypospadias 58 31 occasional (7.5%) Occasional (29-5%) HP:0000047
18 ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001629
19 hypoplasia of penis 58 31 occasional (7.5%) Occasional (29-5%) HP:0008736
20 sclerocornea 58 31 occasional (7.5%) Occasional (29-5%) HP:0000647
21 11 pairs of ribs 58 31 occasional (7.5%) Occasional (29-5%) HP:0000878
22 frontal bossing 31 HP:0002007
23 abnormal vertebral morphology 58 Occasional (29-5%)
24 microcephaly 31 HP:0000252
25 sensorineural hearing impairment 31 HP:0000407
26 short stature 31 HP:0004322
27 spastic tetraplegia 31 HP:0002510
28 postnatal growth retardation 31 HP:0008897
29 specific learning disability 31 HP:0001328
30 micropenis 31 HP:0000054
31 rib fusion 31 HP:0000902
32 vertebral fusion 31 HP:0002948
33 missing ribs 31 HP:0000921
34 butterfly vertebrae 31 HP:0003316
35 supernumerary ribs 31 HP:0005815
36 hypoplasia of the corpus callosum 31 HP:0002079
37 spastic diplegia 31 HP:0001264
38 generalized hypotonia 31 HP:0001290
39 coloboma 31 HP:0000589
40 optic nerve hypoplasia 31 HP:0000609
41 anterior pituitary hypoplasia 31 HP:0010627
42 hypothalamic hamartoma 31 HP:0002444
43 vertebral hypoplasia 31 HP:0008417
44 hypotonia 31 HP:0001252
45 hypogonadotropic hypogonadism 31 HP:0000044

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
agenesis of corpus callosum
spastic diplegia
anterior pituitary hypoplasia
hypothalamic hamartoma
hypotonia
more
Head And Neck Head:
microcephaly

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Eyes:
microphthalmia
coloboma
optic nerve hypoplasia
anophthalmia, clinical

Skeletal Spine:
hemivertebrae
butterfly vertebrae
fused vertebrae
underdeveloped vertebrae

Abdomen Gastrointestinal:
esophageal atresia

Head And Neck Ears:
hearing loss, sensorineural

Growth Other:
growth failure, postnatal

Head And Neck Face:
frontal bossing

Growth Height:
short stature

Genitourinary External Genitalia Male:
micropenis
hypospadias

Cardiovascular Vascular:
patent ductus arteriosus

Cardiovascular Heart:
ventricular septal defect

Endocrine Features:
anterior pituitary hypoplasia
hypogonadotropic hypogonadism

Chest Ribs Sternum Clavicles And Scapulae:
fused ribs
extra ribs
absent ribs

Head And Neck Teeth:
multiple supernumerary teeth (rare)

Clinical features from OMIM®:

206900 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Microphthalmia, Syndromic 3:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.24 CHD7 FOXF1 FOXL1 OTX2 PAX6 POU3F2
2 endocrine/exocrine gland MP:0005379 10.18 CHD7 FOXF1 FOXL1 OTX2 PAX6 POU3F2
3 growth/size/body region MP:0005378 10.18 CHD7 FOXF1 FOXL1 GNB4 OTX2 PAX6
4 embryo MP:0005380 10.09 CHD7 FOXF1 OTX2 PAX6 SHH SMOC1
5 craniofacial MP:0005382 10.08 CHD7 OTX2 PAX6 SHH SMOC1 SOX2
6 digestive/alimentary MP:0005381 10.06 CHD7 FOXF1 FOXL1 OTX2 PAX6 SHH
7 nervous system MP:0003631 10.06 CHD7 OTX2 PAX6 POU3F2 SHH SIX6
8 skeleton MP:0005390 9.85 CHD7 GNB4 OTX2 PAX6 SHH SMOC1
9 pigmentation MP:0001186 9.73 OTX2 PAX6 SMOC1 SOX2 STRA6 VSX2
10 vision/eye MP:0005391 9.28 CHD7 OTX2 PAX6 SHH SIX6 SMOC1
11 taste/olfaction MP:0005394 9.26 OTX2 PAX6 SHH SOX2

Drugs & Therapeutics for Microphthalmia, Syndromic 3

Search Clinical Trials , NIH Clinical Center for Microphthalmia, Syndromic 3

Cochrane evidence based reviews: microphthalmia, syndromic 3

Genetic Tests for Microphthalmia, Syndromic 3

Genetic tests related to Microphthalmia, Syndromic 3:

# Genetic test Affiliating Genes
1 Anophthalmia/microphthalmia-Esophageal Atresia Syndrome 29 SIX6 SOX2
2 Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System 29

Anatomical Context for Microphthalmia, Syndromic 3

MalaCards organs/tissues related to Microphthalmia, Syndromic 3:

40
Eye, Pituitary, Testes, Trachea, Brain

Publications for Microphthalmia, Syndromic 3

Articles related to Microphthalmia, Syndromic 3:

(show all 45)
# Title Authors PMID Year
1
Germinal mosaicism and familial recurrence of a SOX2 mutation with highly variable phenotypic expression extending from AEG syndrome to absence of ocular involvement. 6 57 61
17219395 2007
2
Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome. 57 6 61
16543359 2006
3
Bilateral anophthalmia and oesophageal atresia in a newborn female: a new case of the anophthalmia-oesophageal-genital (AEG) syndrome. 61 57 6
12002146 2002
4
SOX2 haploinsufficiency is associated with slow progressing hypothalamo-pituitary tumours. 6 57
21919124 2011
5
Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring. 6 57
21326281 2011
6
Supernumerary impacted teeth in a patient with SOX2 anophthalmia syndrome. 6 57
20803647 2010
7
Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia. 57 6
19921648 2009
8
A novel heterozygous SOX2 mutation causing anophthalmia/microphthalmia with genital anomalies. 6 57
19254784 2009
9
Familial recurrence of SOX2 anophthalmia syndrome: phenotypically normal mother with two affected daughters. 57 6
18831064 2008
10
Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans. 6 57
16932809 2006
11
Anophthalmia-esophageal atresia syndrome caused by an SOX2 gene deletion in monozygotic twin brothers with markedly discordant phenotypes. 6 57
16892407 2006
12
Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother. 6 57
16470798 2006
13
Bilateral anophthalmia and brain malformations caused by a 20-bp deletion in the SOX2 gene. 57 6
16283891 2005
14
SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies. 57 6
16145681 2005
15
SOX2 anophthalmia syndrome. 57 6
15812812 2005
16
Bilateral anophthalmia and esophageal atresia: report of a new patient and review of the literature. 57 6
15389708 2005
17
Association of oesophageal atresia, anophthalmia and renal duplex. 57 6
15346919 2004
18
Mutations in SOX2 cause anophthalmia. 6 57
12612584 2003
19
Syndromic microphthalmia-3 caused by a mutation on gene SOX2 in a Colombian male patient. 6
27206652 2016
20
SOX2 anophthalmia syndrome and dental anomalies. 6
26250054 2015
21
SOX2, OTX2 and PAX6 analysis in subjects with anophthalmia and microphthalmia. 6
25542770 2015
22
Mutation spectrum and phenotypic variation in nine patients with SOX2 abnormalities. 6
24804704 2014
23
A novel heterozygous SOX2 mutation causing congenital bilateral anophthalmia, hypogonadotropic hypogonadism and growth hormone deficiency. 6
24211324 2014
24
Whole-genome copy number variation analysis in anophthalmia and microphthalmia. 6
23701296 2013
25
Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center. 6
24498598 2013
26
Parent-of-origin effects in SOX2 anophthalmia syndrome. 6
22171155 2011
27
SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development. 6
18285410 2008
28
Molecular links among the causative genes for ocular malformation: Otx2 and Sox2 coregulate Rax expression. 6
18385377 2008
29
SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions. 6
17522144 2007
30
Microphthalmia and synostotic frontal plagiocephaly: a rare clinical entity with implications for craniofacial reconstruction. 57
15988238 2005
31
Anophthalmia-esophageal-genital syndrome: a further case to define the phenotype. 57
15384104 2005
32
Association of anophthalmia and esophageal atresia: four new cases identified by the anophthalmia/microphthalmia clinical registry. 57
15578584 2005
33
Absence of deletion at the SOX2 locus in a case of microphthalmia and esophageal atresia. 57
15487011 2004
34
Association of microphthalmia and esophageal atresia: description of a patient and review of the literature. 57
12749061 2003
35
A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of microcornea, rod-cone dystrophy, cataract, and posterior staphyloma. 57
12543751 2003
36
Delineation of an estimated 6.7 MB candidate interval for an anophthalmia gene at 3q26.33-q28 and description of the syndrome associated with visible chromosome deletions of this region. 57
12461687 2002
37
Bilateral microphthalmos with colobomatous orbital cyst and de-novo balanced translocation t(3;5). 57
11135495 2000
38
Association of microphthalmia with esophageal atresia: report of two new patients and review of the literature. 57
10533033 1999
39
Isolated bilateral anophthalmia in a girl with an apparently balanced de novo translocation: 46,XX,t(3;11)(q27;p11.2). 57
10564870 1999
40
Bilateral microphthalmia, esophageal atresia, and cryptorchidism: the anophthalmia-esophageal-genital syndrome. 57
9128938 1997
41
Microphthalmos associated with esophageal atresia. 57
8708919 1996
42
Terminal deletion of the long arm of chromosome 3 [46,XX,del(3)(q27-->qter)]. 57
8741917 1996
43
Association of anophthalmia and esophageal atresia. 57
8585569 1995
44
Bilateral anophthalmia, esophageal atresia, and right cryptorchidism: a new entity? 57
1352427 1992
45
Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology. 61
16299066 2006

Variations for Microphthalmia, Syndromic 3

ClinVar genetic disease variations for Microphthalmia, Syndromic 3:

6 (show top 50) (show all 68)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MCF2L2 GRCh37/hg19 3q27.1(chr3:182902731-182945128)x1 copy number loss Pathogenic 986757 GRCh37: 3:182902731-182945128
GRCh38:
2 overlap with 3 genes GRCh37/hg19 3q27.1(chr3:182871341-182987855)x1 copy number loss Pathogenic 986758 GRCh37: 3:182871341-182987855
GRCh38:
3 SOX2-OT , SOX2 NM_003106.4(SOX2):c.529C>T (p.Gln177Ter) SNV Pathogenic 12814 rs104893799 GRCh37: 3:181430677-181430677
GRCh38: 3:181712889-181712889
4 SOX2-OT , SOX2 NM_003106.4(SOX2):c.277G>T (p.Glu93Ter) SNV Pathogenic 12815 rs104893800 GRCh37: 3:181430425-181430425
GRCh38: 3:181712637-181712637
5 SOX2-OT , SOX2 NM_003106.4(SOX2):c.248C>A (p.Ser83Ter) SNV Pathogenic 12816 rs104893801 GRCh37: 3:181430396-181430396
GRCh38: 3:181712608-181712608
6 SOX2-OT , SOX2 NM_003106.4(SOX2):c.290T>C (p.Leu97Pro) SNV Pathogenic 12817 rs104893802 GRCh37: 3:181430438-181430438
GRCh38: 3:181712650-181712650
7 SOX2-OT , SOX2 NM_003106.4(SOX2):c.463C>T (p.Gln155Ter) SNV Pathogenic 12818 rs104893803 GRCh37: 3:181430611-181430611
GRCh38: 3:181712823-181712823
8 SOX2 SOX2, DEL Deletion Pathogenic 12819 GRCh37:
GRCh38:
9 SOX2-OT , SOX2 NM_003106.4(SOX2):c.163C>T (p.Gln55Ter) SNV Pathogenic 12820 rs104893804 GRCh37: 3:181430311-181430311
GRCh38: 3:181712523-181712523
10 SOX2-OT , SOX2 NM_003106.4(SOX2):c.221G>C (p.Arg74Pro) SNV Pathogenic 12821 rs104893805 GRCh37: 3:181430369-181430369
GRCh38: 3:181712581-181712581
11 SOX2-OT , SOX2 NM_003106.4(SOX2):c.138T>G (p.Asn46Lys) SNV Pathogenic 12822 rs104893806 GRCh37: 3:181430286-181430286
GRCh38: 3:181712498-181712498
12 SOX2 SOX2, 20-BP DEL, NT70 Deletion Pathogenic 12823 GRCh37:
GRCh38:
13 SOX2 SOX2, 1-BP INS, 60G Insertion Pathogenic 12824 GRCh37:
GRCh38:
14 SOX2-OT , SOX2 NM_003106.4(SOX2):c.389G>C (p.Gly130Ala) SNV Pathogenic 12825 rs121918652 GRCh37: 3:181430537-181430537
GRCh38: 3:181712749-181712749
15 SOX2-OT , SOX2 NM_003106.4(SOX2):c.571G>A (p.Ala191Thr) SNV Pathogenic 12826 rs104893808 GRCh37: 3:181430719-181430719
GRCh38: 3:181712931-181712931
16 SOX2 SOX2, 17-BP DEL, NT70 Deletion Pathogenic 12827 GRCh37:
GRCh38:
17 SOX2-OT , SOX2 NM_003106.4(SOX2):c.551del (p.Pro184fs) Deletion Pathogenic 12828 rs587776776 GRCh37: 3:181430697-181430697
GRCh38: 3:181712909-181712909
18 SOX2-OT , SOX2 NM_003106.4(SOX2):c.58_59dup (p.Gly21fs) Duplication Pathogenic 29890 rs398122803 GRCh37: 3:181430201-181430202
GRCh38: 3:181712413-181712414
19 SOX2-OT , SOX2 NM_003106.4(SOX2):c.245T>A (p.Leu82Ter) SNV Pathogenic 29891 rs387906688 GRCh37: 3:181430393-181430393
GRCh38: 3:181712605-181712605
20 SOX2-OT , SOX2 NM_003106.4(SOX2):c.143_144delinsAA (p.Phe48Ter) Indel Pathogenic 39804 rs398122915 GRCh37: 3:181430291-181430292
GRCh38: 3:181712503-181712504
21 SOX2-OT , SOX2 NM_003106.4(SOX2):c.837del (p.Gly280fs) Deletion Pathogenic 39805 rs398122916 GRCh37: 3:181430982-181430982
GRCh38: 3:181713194-181713194
22 SOX2-OT , SOX2 NM_003106.4(SOX2):c.157dup (p.Arg53fs) Duplication Pathogenic 467821 rs1553862958 GRCh37: 3:181430302-181430303
GRCh38: 3:181712514-181712515
23 SOX2-OT , SOX2 NM_003106.4(SOX2):c.244_245del (p.Leu82fs) Deletion Pathogenic 467822 rs1553862971 GRCh37: 3:181430390-181430391
GRCh38: 3:181712602-181712603
24 overlap with 3 genes NC_000003.12:g.(?_181712341)_(181874887_?)del Deletion Pathogenic 467820 GRCh37: 3:181430129-181592675
GRCh38: 3:181712341-181874887
25 SOX2-OT , SOX2 NM_003106.4(SOX2):c.540C>G (p.Tyr180Ter) SNV Pathogenic 535836 rs771521201 GRCh37: 3:181430688-181430688
GRCh38: 3:181712900-181712900
26 SOX2-OT , SOX2 NM_003106.4(SOX2):c.67_89dup (p.Gly31fs) Duplication Pathogenic 581870 rs1560264167 GRCh37: 3:181430205-181430206
GRCh38: 3:181712417-181712418
27 SOX2-OT , SOX2 NM_003106.4(SOX2):c.385_386del (p.Gly129fs) Deletion Pathogenic 599276 rs1560264452 GRCh37: 3:181430533-181430534
GRCh38: 3:181712745-181712746
28 SOX2-OT , SOX2 NC_000003.12:g.(?_181712341)_(181713334_?)del Deletion Pathogenic 665645 GRCh37: 3:181430129-181431122
GRCh38: 3:181712341-181713334
29 SOX2-OT , SOX2 NM_003106.4(SOX2):c.53C>A (p.Ser18Ter) SNV Pathogenic 855754 GRCh37: 3:181430201-181430201
GRCh38: 3:181712413-181712413
30 SOX2-OT , SOX2 NM_003106.4(SOX2):c.3dup (p.Tyr2fs) Duplication Pathogenic 859786 GRCh37: 3:181430150-181430151
GRCh38: 3:181712362-181712363
31 SOX2-OT , SOX2 NM_003106.4(SOX2):c.70_89del (p.Asn24fs) Deletion Pathogenic 94104 rs398123693 GRCh37: 3:181430207-181430226
GRCh38: 3:181712419-181712438
32 SOX2-OT , SOX2 NM_003106.4(SOX2):c.841_860delinsACCTCGG (p.Ala281fs) Indel Pathogenic 566314 rs1560264973 GRCh37: 3:181430989-181431008
GRCh38: 3:181713201-181713220
33 SOX2-OT , SOX2 NM_003106.4(SOX2):c.388_391del (p.Gly130fs) Deletion Pathogenic 954296 GRCh37: 3:181430533-181430536
GRCh38: 3:181712745-181712748
34 SOX2-OT , SOX2 NM_003106.4(SOX2):c.87_96dup (p.Asn33fs) Duplication Pathogenic 976481 GRCh37: 3:181430227-181430228
GRCh38: 3:181712439-181712440
35 overlap with 6 genes GRCh37/hg19 3q26.33(chr3:180102701-181991155)x1 copy number loss Pathogenic 986754 GRCh37: 3:180102701-181991155
GRCh38:
36 SOX2-OT , SOX2 NM_003106.4(SOX2):c.828del (p.Met276fs) Deletion Pathogenic 986766 GRCh37: 3:181430976-181430976
GRCh38: 3:181713188-181713188
37 SOX2-OT , SOX2 NM_003106.4(SOX2):c.582_583delinsTT (p.Met194_Gln195delinsIleTer) Indel Pathogenic 986767 GRCh37: 3:181430730-181430731
GRCh38: 3:181712942-181712943
38 SOX2-OT , SOX2 NM_003106.4(SOX2):c.486_487dup (p.Met163fs) Microsatellite Pathogenic 986768 GRCh37: 3:181430631-181430632
GRCh38: 3:181712843-181712844
39 SOX2-OT , SOX2 NM_003106.4(SOX2):c.-13_43del (p.Met1fs) Deletion Pathogenic 986769 GRCh37: 3:181430125-181430180
GRCh38: 3:181712337-181712392
40 SOX2-OT , SOX2 NM_003106.4(SOX2):c.166C>G (p.Arg56Gly) SNV Pathogenic 986770 GRCh37: 3:181430314-181430314
GRCh38: 3:181712526-181712526
41 SOX2-OT , SOX2 NM_003106.4(SOX2):c.941del (p.Leu314fs) Deletion Pathogenic 986771 GRCh37: 3:181431089-181431089
GRCh38: 3:181713301-181713301
42 SOX2-OT , SOX2 NM_003106.4(SOX2):c.600C>G (p.Tyr200Ter) SNV Pathogenic 986772 GRCh37: 3:181430748-181430748
GRCh38: 3:181712960-181712960
43 SOX2-OT , SOX2 NM_003106.4(SOX2):c.402del (p.Gly135fs) Deletion Pathogenic 986773 GRCh37: 3:181430546-181430546
GRCh38: 3:181712758-181712758
44 SOX2-OT , SOX2 NM_003106.4(SOX2):c.16G>T (p.Glu6Ter) SNV Pathogenic 986774 GRCh37: 3:181430164-181430164
GRCh38: 3:181712376-181712376
45 SOX2-OT , SOX2 NM_003106.4(SOX2):c.542del (p.Pro181fs) Deletion Pathogenic 986775 GRCh37: 3:181430688-181430688
GRCh38: 3:181712900-181712900
46 SOX2-OT , SOX2 NM_003106.4(SOX2):c.538_542dup (p.Gln182fs) Duplication Pathogenic 986776 GRCh37: 3:181430684-181430685
GRCh38: 3:181712896-181712897
47 SOX2-OT , SOX2 NM_003106.4(SOX2):c.59del (p.Gly20fs) Deletion Pathogenic 986777 GRCh37: 3:181430202-181430202
GRCh38: 3:181712414-181712414
48 SOX2-OT , SOX2 NM_003106.4(SOX2):c.58_59delinsT (p.Gly20fs) Indel Pathogenic 986778 GRCh37: 3:181430206-181430207
GRCh38: 3:181712418-181712419
49 SOX2-OT , SOX2 NM_003106.4(SOX2):c.943_944del (p.Ser315fs) Microsatellite Pathogenic 986779 GRCh37: 3:181431088-181431089
GRCh38: 3:181713300-181713301
50 overlap with 2 genes GRCh37/hg19 3q26.33(chr3:180913778-181432287)x1 copy number loss Pathogenic 986760 GRCh37: 3:180913778-181432287
GRCh38:

Expression for Microphthalmia, Syndromic 3

Search GEO for disease gene expression data for Microphthalmia, Syndromic 3.

Pathways for Microphthalmia, Syndromic 3

GO Terms for Microphthalmia, Syndromic 3

Cellular components related to Microphthalmia, Syndromic 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription factor complex GO:0005667 9.43 SOX8 SOX2 SIX6 POU3F2 FOXF1 FOXE3
2 chromatin GO:0000785 9.36 VSX2 SOX8 SOX3 SOX2 SIX6 POU3F2

Biological processes related to Microphthalmia, Syndromic 3 according to GeneCards Suite gene sharing:

(show all 41)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 10.15 VSX2 SOX8 SIX6 POU3F2 PAX6 OTX2
2 cell differentiation GO:0030154 10.11 SOX3 SOX2 SMOC1 POU3F2 PAX6 FOXL1
3 positive regulation of transcription, DNA-templated GO:0045893 10.08 SOX8 SOX2 SHH PAX6 OTX2 FOXF1
4 negative regulation of transcription by RNA polymerase II GO:0000122 10.05 VSX2 SOX8 SOX3 SOX2 SHH PAX6
5 positive regulation of transcription by RNA polymerase II GO:0045944 9.97 SOX8 SOX3 SOX2 SHH POU3F2 PAX6
6 multicellular organism development GO:0007275 9.96 VSX2 SOX3 SOX2-OT SOX2 SMOC1 SIX6
7 heart development GO:0007507 9.95 STRA6 SHH FOXL1 FOXF1
8 central nervous system development GO:0007417 9.84 SOX3 SHH PAX6 CHD7
9 lung development GO:0030324 9.83 STRA6 SHH FOXF1
10 anatomical structure morphogenesis GO:0009653 9.83 SOX3 SOX2 FOXL1 FOXE3
11 retina development in camera-type eye GO:0060041 9.81 SOX8 PAX6 CHD7
12 smoothened signaling pathway GO:0007224 9.81 SHH PAX6 FOXF1
13 negative regulation of neuron differentiation GO:0045665 9.78 SOX3 SOX2 PAX6
14 limb development GO:0060173 9.75 SMOC1 SHH CHD7
15 forebrain development GO:0030900 9.73 SOX2 SHH PAX6 OTX2
16 cell fate commitment GO:0045165 9.71 SOX8 SOX2 SHH PAX6
17 positive regulation of neuroblast proliferation GO:0002052 9.68 SHH PAX6
18 positive regulation of mesenchymal cell proliferation GO:0002053 9.68 SHH FOXF1
19 lung morphogenesis GO:0060425 9.68 SHH FOXF1
20 epithelial tube branching involved in lung morphogenesis GO:0060441 9.68 SHH FOXF1
21 face development GO:0060324 9.67 SOX3 CHD7
22 embryonic digestive tract development GO:0048566 9.67 STRA6 FOXF1
23 embryonic digestive tract morphogenesis GO:0048557 9.67 SHH FOXF1
24 blood vessel development GO:0001568 9.67 STRA6 PAX6 FOXF1 CHD7
25 digestive tract morphogenesis GO:0048546 9.66 STRA6 SHH
26 smooth muscle tissue development GO:0048745 9.65 STRA6 SHH
27 cornea development in camera-type eye GO:0061303 9.65 PAX6 FOXE3
28 pituitary gland development GO:0021983 9.65 SOX3 SOX2 PAX6
29 iris morphogenesis GO:0061072 9.64 PAX6 FOXE3
30 embryonic foregut morphogenesis GO:0048617 9.63 SHH FOXF1
31 neuron fate commitment GO:0048663 9.63 SHH POU3F2 PAX6
32 lung lobe morphogenesis GO:0060463 9.62 SHH FOXF1
33 respiratory tube development GO:0030323 9.62 SHH FOXF1
34 telencephalon regionalization GO:0021978 9.61 SHH PAX6
35 ductus arteriosus closure GO:0097070 9.59 STRA6 FOXF1
36 lung vasculature development GO:0060426 9.58 STRA6 FOXF1
37 trachea development GO:0060438 9.56 SHH FOXF1
38 female genitalia development GO:0030540 9.55 STRA6 CHD7
39 camera-type eye development GO:0043010 9.55 STRA6 SHH PAX6 FOXE3 CHD7
40 regulation of transcription, DNA-templated GO:0006355 9.44 VSX2 SOX8 SOX3 SOX2 SIX6 SHH
41 eye development GO:0001654 9.35 SOX2 SMOC1 SIX6 PAX6 FOXE3

Molecular functions related to Microphthalmia, Syndromic 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.93 VSX2 SOX8 SOX3 SOX2 SIX6 POU3F2
2 sequence-specific double-stranded DNA binding GO:1990837 9.91 VSX2 SOX8 SOX3 SIX6 POU3F2 PAX6
3 sequence-specific DNA binding GO:0043565 9.87 SOX8 SOX2 POU3F2 PAX6 FOXL1 FOXF1
4 DNA-binding transcription factor activity GO:0003700 9.86 SOX8 SOX2 POU3F2 PAX6 OTX2 FOXL1
5 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.8 SOX2 POU3F2 PAX6 OTX2 FOXF1
6 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.7 VSX2 SOX8 SOX3 SOX2 SIX6 POU3F2
7 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.36 SOX8 SOX3 SOX2 SIX6 POU3F2 PAX6

Sources for Microphthalmia, Syndromic 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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