MCID: MCR241
MIFTS: 38

Microphthalmia, Syndromic 3

Categories: Genetic diseases, Rare diseases, Eye diseases, Endocrine diseases, Fetal diseases, Neuronal diseases, Cardiovascular diseases, Mental diseases, Respiratory diseases, Reproductive diseases, Ear diseases

Aliases & Classifications for Microphthalmia, Syndromic 3

MalaCards integrated aliases for Microphthalmia, Syndromic 3:

Name: Microphthalmia, Syndromic 3 57 13 73
Aeg Syndrome 57 53 25 75
Mcops3 57 53 59 75
Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System 57 29 6
Microphthalmia and Esophageal Atresia Syndrome 57 53 75
Anophthalmia-Esophageal-Genital Syndrome 57 25 75
Sox2-Related Eye Disorders 53 25
Sox2 Anophthalmia Syndrome 53 25
Microphthalmia Syndromic 3 29 6
Anophthalmia/microphthalmia-Esophageal Atresia Syndrome 59
Anophthalmia, Clinical, with Associated Anomalies 57
Anophthalmia Clinical with Associated Anomalies 53
Anophthalmia Microphthalmia Esophageal Atresia 53
Anophthalmia/microphthalmia-Esophageal Atresia 75
Anophthalmia Esophageal Genital Syndrome 53
Syndromic Microphthalmia, Type 3 53
Microphthalmia Syndromic, Type 3 40
Syndromic Microphthalmia Type 3 59
Microphthalmia, Syndromic, 3 75
Syndromic Microphthalmia 3 25

Characteristics:

Orphanet epidemiological data:

59
anophthalmia/microphthalmia-esophageal atresia syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
microphthalmia, syndromic 3:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Microphthalmia, Syndromic 3

NIH Rare Diseases : 53 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.

MalaCards based summary : Microphthalmia, Syndromic 3, also known as aeg syndrome, is related to microphthalmia and sox2-related eye disorders. An important gene associated with Microphthalmia, Syndromic 3 is SOX2 (SRY-Box 2), and among its related pathways/superpathways is Ectoderm Differentiation. Affiliated tissues include eye, brain and pituitary, and related phenotypes are agenesis of corpus callosum and hydrocephalus

Genetics Home Reference : 25 SOX2 anophthalmia syndrome is a rare disorder characterized by abnormal development of the eyes and other parts of the body.

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)

UniProtKB/Swiss-Prot : 75 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

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



Diseases related to Microphthalmia, Syndromic 3

Symptoms & Phenotypes for Microphthalmia, Syndromic 3

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
agenesis of corpus callosum
spastic diplegia
hypothalamic hamartoma
anterior pituitary hypoplasia
hypotonia
more
Head And Neck Head:
microcephaly

Cardiovascular Vascular:
patent ductus arteriosus

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

Cardiovascular Heart:
ventricular septal defect

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

GenitourinaryInternal GenitaliaMale:
cryptorchidism

Genitourinary External Genitalia Male:
hypospadias
micropenis

Skeletal Spine:
hemivertebrae
butterfly vertebrae
fused vertebrae
underdeveloped vertebrae

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

Human phenotypes related to Microphthalmia, Syndromic 3:

59 32 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 agenesis of corpus callosum 59 32 frequent (33%) Frequent (79-30%) HP:0001274
2 hydrocephalus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000238
3 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
4 hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000365
5 global developmental delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001263
6 patent ductus arteriosus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001643
7 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
8 growth delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001510
9 microphthalmia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000568
10 hypospadias 59 32 occasional (7.5%) Occasional (29-5%) HP:0000047
11 visual loss 59 32 frequent (33%) Frequent (79-30%) HP:0000572
12 ventricular septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001629
13 hypoplasia of penis 59 32 occasional (7.5%) Occasional (29-5%) HP:0008736
14 tracheoesophageal fistula 59 32 hallmark (90%) Very frequent (99-80%) HP:0002575
15 holoprosencephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001360
16 sclerocornea 59 32 occasional (7.5%) Occasional (29-5%) HP:0000647
17 iris coloboma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000612
18 hemivertebrae 59 32 occasional (7.5%) Occasional (29-5%) HP:0002937
19 anophthalmia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000528
20 esophageal atresia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002032
21 11 pairs of ribs 59 32 occasional (7.5%) Occasional (29-5%) HP:0000878
22 frontal bossing 32 HP:0002007
23 muscular hypotonia 32 HP:0001252
24 abnormal vertebral morphology 59 Occasional (29-5%)
25 microcephaly 32 HP:0000252
26 sensorineural hearing impairment 32 HP:0000407
27 short stature 32 HP:0004322
28 spastic tetraplegia 32 HP:0002510
29 postnatal growth retardation 32 HP:0008897
30 specific learning disability 32 HP:0001328
31 hypogonadotrophic hypogonadism 32 HP:0000044
32 optic nerve hypoplasia 32 HP:0000609
33 vertebral fusion 32 HP:0002948
34 rib fusion 32 HP:0000902
35 missing ribs 32 HP:0000921
36 butterfly vertebrae 32 HP:0003316
37 supernumerary ribs 32 HP:0005815
38 hypoplasia of the corpus callosum 32 HP:0002079
39 micropenis 32 HP:0000054
40 vertebral hypoplasia 32 HP:0008417
41 spastic diplegia 32 HP:0001264
42 generalized hypotonia 32 HP:0001290
43 coloboma 32 HP:0000589
44 hypothalamic hamartoma 32 HP:0002444
45 anterior pituitary hypoplasia 32 HP:0010627

Drugs & Therapeutics for Microphthalmia, Syndromic 3

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

Genetic Tests for Microphthalmia, Syndromic 3

Genetic tests related to Microphthalmia, Syndromic 3:

# Genetic test Affiliating Genes
1 Microphthalmia Syndromic 3 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:

41
Eye, Brain, Pituitary

Publications for Microphthalmia, Syndromic 3

Articles related to Microphthalmia, Syndromic 3:

# Title Authors 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. ( 17219395 )
2007
2
Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome. ( 16543359 )
2006

Variations for Microphthalmia, Syndromic 3

ClinVar genetic disease variations for Microphthalmia, Syndromic 3:

6
(show all 50)
# Gene Variation Type Significance SNP ID Assembly Location
1 SOX2 NM_003106.3(SOX2): c.529C> T (p.Gln177Ter) single nucleotide variant Pathogenic rs104893799 GRCh37 Chromosome 3, 181430677: 181430677
2 SOX2 NM_003106.3(SOX2): c.529C> T (p.Gln177Ter) single nucleotide variant Pathogenic rs104893799 GRCh38 Chromosome 3, 181712889: 181712889
3 SOX2 NM_003106.3(SOX2): c.277G> T (p.Glu93Ter) single nucleotide variant Pathogenic rs104893800 GRCh37 Chromosome 3, 181430425: 181430425
4 SOX2 NM_003106.3(SOX2): c.277G> T (p.Glu93Ter) single nucleotide variant Pathogenic rs104893800 GRCh38 Chromosome 3, 181712637: 181712637
5 SOX2 NM_003106.3(SOX2): c.248C> A (p.Ser83Ter) single nucleotide variant Pathogenic rs104893801 GRCh37 Chromosome 3, 181430396: 181430396
6 SOX2 NM_003106.3(SOX2): c.248C> A (p.Ser83Ter) single nucleotide variant Pathogenic rs104893801 GRCh38 Chromosome 3, 181712608: 181712608
7 SOX2 NM_003106.3(SOX2): c.290T> C (p.Leu97Pro) single nucleotide variant Pathogenic rs104893802 GRCh37 Chromosome 3, 181430438: 181430438
8 SOX2 NM_003106.3(SOX2): c.290T> C (p.Leu97Pro) single nucleotide variant Pathogenic rs104893802 GRCh38 Chromosome 3, 181712650: 181712650
9 SOX2 NM_003106.3(SOX2): c.463C> T (p.Gln155Ter) single nucleotide variant Pathogenic rs104893803 GRCh37 Chromosome 3, 181430611: 181430611
10 SOX2 NM_003106.3(SOX2): c.463C> T (p.Gln155Ter) single nucleotide variant Pathogenic rs104893803 GRCh38 Chromosome 3, 181712823: 181712823
11 SOX2 SOX2, DEL deletion Pathogenic
12 SOX2 NM_003106.3(SOX2): c.163C> T (p.Gln55Ter) single nucleotide variant Pathogenic rs104893804 GRCh37 Chromosome 3, 181430311: 181430311
13 SOX2 NM_003106.3(SOX2): c.163C> T (p.Gln55Ter) single nucleotide variant Pathogenic rs104893804 GRCh38 Chromosome 3, 181712523: 181712523
14 SOX2 NM_003106.3(SOX2): c.221G> C (p.Arg74Pro) single nucleotide variant Pathogenic rs104893805 GRCh37 Chromosome 3, 181430369: 181430369
15 SOX2 NM_003106.3(SOX2): c.221G> C (p.Arg74Pro) single nucleotide variant Pathogenic rs104893805 GRCh38 Chromosome 3, 181712581: 181712581
16 SOX2 NM_003106.3(SOX2): c.138T> G (p.Asn46Lys) single nucleotide variant Pathogenic rs104893806 GRCh37 Chromosome 3, 181430286: 181430286
17 SOX2 NM_003106.3(SOX2): c.138T> G (p.Asn46Lys) single nucleotide variant Pathogenic rs104893806 GRCh38 Chromosome 3, 181712498: 181712498
18 SOX2 SOX2, 20-BP DEL, NT70 deletion Pathogenic
19 SOX2 SOX2, 1-BP INS, 60G insertion Pathogenic
20 SOX2 NM_003106.3(SOX2): c.389G> C (p.Gly130Ala) single nucleotide variant Pathogenic rs121918652 GRCh37 Chromosome 3, 181430537: 181430537
21 SOX2 NM_003106.3(SOX2): c.389G> C (p.Gly130Ala) single nucleotide variant Pathogenic rs121918652 GRCh38 Chromosome 3, 181712749: 181712749
22 SOX2 SOX2, 17-BP DEL, NT70 deletion Pathogenic
23 SOX2 NM_003106.3(SOX2): c.551delC (p.Pro184Argfs) deletion Pathogenic rs587776776 GRCh37 Chromosome 3, 181430699: 181430699
24 SOX2 NM_003106.3(SOX2): c.551delC (p.Pro184Argfs) deletion Pathogenic rs587776776 GRCh38 Chromosome 3, 181712911: 181712911
25 SOX2 NM_003106.3(SOX2): c.59_60insGG (p.Gly21Alafs) insertion Pathogenic rs398122803 GRCh37 Chromosome 3, 181430206: 181430207
26 SOX2 NM_003106.3(SOX2): c.59_60insGG (p.Gly21Alafs) insertion Pathogenic rs398122803 GRCh38 Chromosome 3, 181712418: 181712419
27 SOX2 NM_003106.3(SOX2): c.245T> A (p.Leu82Ter) single nucleotide variant Pathogenic rs387906688 GRCh37 Chromosome 3, 181430393: 181430393
28 SOX2 NM_003106.3(SOX2): c.245T> A (p.Leu82Ter) single nucleotide variant Pathogenic rs387906688 GRCh38 Chromosome 3, 181712605: 181712605
29 SOX2 NM_003106.3(SOX2): c.143_144delTCinsAA (p.Phe48Ter) indel Pathogenic rs398122915 GRCh37 Chromosome 3, 181430291: 181430292
30 SOX2 NM_003106.3(SOX2): c.143_144delTCinsAA (p.Phe48Ter) indel Pathogenic rs398122915 GRCh38 Chromosome 3, 181712503: 181712504
31 SOX2 NM_003106.3(SOX2): c.837delC (p.Gly280Alafs) deletion Pathogenic rs398122916 GRCh37 Chromosome 3, 181430985: 181430985
32 SOX2 NM_003106.3(SOX2): c.837delC (p.Gly280Alafs) deletion Pathogenic rs398122916 GRCh38 Chromosome 3, 181713197: 181713197
33 SOX2 NM_003106.3(SOX2): c.70_89del20 (p.Asn24Argfs) deletion Pathogenic rs398123693 GRCh37 Chromosome 3, 181430218: 181430237
34 SOX2 NM_003106.3(SOX2): c.70_89del20 (p.Asn24Argfs) deletion Pathogenic rs398123693 GRCh38 Chromosome 3, 181712430: 181712449
35 SOX2 NM_003106.3(SOX2): c.480C> G (p.Tyr160Ter) single nucleotide variant Pathogenic rs55683010 GRCh37 Chromosome 3, 181430628: 181430628
36 SOX2 NM_003106.3(SOX2): c.480C> G (p.Tyr160Ter) single nucleotide variant Pathogenic rs55683010 GRCh38 Chromosome 3, 181712840: 181712840
37 SOX2 NM_003106.3(SOX2): c.518_522dupTGATG (p.Gln175Terfs) duplication Pathogenic rs886043936 GRCh37 Chromosome 3, 181430666: 181430670
38 SOX2 NM_003106.3(SOX2): c.518_522dupTGATG (p.Gln175Terfs) duplication Pathogenic rs886043936 GRCh38 Chromosome 3, 181712878: 181712882
39 SOX2 NC_000003.12: g.(?_181712341)_(181874887_?)del deletion Pathogenic GRCh37 Chromosome 3, 181430129: 181592675
40 SOX2 NC_000003.12: g.(?_181712341)_(181874887_?)del deletion Pathogenic GRCh38 Chromosome 3, 181712341: 181874887
41 SOX2 NM_003106.3(SOX2): c.45G> A (p.Gln15=) single nucleotide variant Likely benign rs776333710 GRCh38 Chromosome 3, 181712405: 181712405
42 SOX2 NM_003106.3(SOX2): c.45G> A (p.Gln15=) single nucleotide variant Likely benign rs776333710 GRCh37 Chromosome 3, 181430193: 181430193
43 SOX2 NM_003106.3(SOX2): c.157dup (p.Arg53Profs) duplication Pathogenic GRCh38 Chromosome 3, 181712517: 181712517
44 SOX2 NM_003106.3(SOX2): c.157dup (p.Arg53Profs) duplication Pathogenic GRCh37 Chromosome 3, 181430305: 181430305
45 SOX2 NM_003106.3(SOX2): c.244_245delTT (p.Leu82Valfs) deletion Pathogenic GRCh38 Chromosome 3, 181712604: 181712605
46 SOX2 NM_003106.3(SOX2): c.244_245delTT (p.Leu82Valfs) deletion Pathogenic GRCh37 Chromosome 3, 181430392: 181430393
47 SOX2 NM_003106.3(SOX2): c.397G> A (p.Ala133Thr) single nucleotide variant Uncertain significance rs377110178 GRCh37 Chromosome 3, 181430545: 181430545
48 SOX2 NM_003106.3(SOX2): c.397G> A (p.Ala133Thr) single nucleotide variant Uncertain significance rs377110178 GRCh38 Chromosome 3, 181712757: 181712757
49 SOX2 NM_003106.3(SOX2): c.540C> G (p.Tyr180Ter) single nucleotide variant Pathogenic rs771521201 GRCh37 Chromosome 3, 181430688: 181430688
50 SOX2 NM_003106.3(SOX2): c.540C> G (p.Tyr180Ter) single nucleotide variant Pathogenic rs771521201 GRCh38 Chromosome 3, 181712900: 181712900

Expression for Microphthalmia, Syndromic 3

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

Pathways for Microphthalmia, Syndromic 3

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

# Super pathways Score Top Affiliating Genes
1 10.78 SIX6 SOX2

GO Terms for Microphthalmia, Syndromic 3

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

# Name GO ID Score Top Affiliating Genes
1 transcription by RNA polymerase II GO:0006366 8.96 SIX6 SOX2
2 eye development GO:0001654 8.62 SIX6 SOX2

Sources for Microphthalmia, Syndromic 3

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
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36 IUPHAR
37 KEGG
38 LifeMap
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44 MeSH
45 MESH via Orphanet
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49 NCI
50 NCIt
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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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