MCID: SYN165
MIFTS: 34

Syndromic Microphthalmia

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

Aliases & Classifications for Syndromic Microphthalmia

MalaCards integrated aliases for Syndromic Microphthalmia:

Name: Syndromic Microphthalmia 12 29 15
Microphthalmia, Syndromic 36 39

Classifications:



External Ids:

Disease Ontology 12 DOID:0080636
KEGG 36 H02170

Summaries for Syndromic Microphthalmia

KEGG : 36 Microphthalmia can be defined as a reduced size of the globe in the orbit. More than 50% of individuals with microphthalmia have extraocular findings, most commonly involving the limbs, musculoskeletal system and the craniofacial region with anomalies of the face, ear and neck.

MalaCards based summary : Syndromic Microphthalmia, also known as microphthalmia, syndromic, is related to microphthalmia, syndromic 6 and microphthalmia, syndromic 3. An important gene associated with Syndromic Microphthalmia is OTX2 (Orthodenticle Homeobox 2), and among its related pathways/superpathways are Mesodermal Commitment Pathway and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include eye, brain and pituitary, and related phenotypes are growth/size/body region and endocrine/exocrine gland

Disease Ontology : 12 A microphthalmia that occurs as part of a syndrome that affects other organs and tissues in the body.

Related Diseases for Syndromic Microphthalmia

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 Syndromic Microphthalmia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 95)
# Related Disease Score Top Affiliating Genes
1 microphthalmia, syndromic 6 32.8 PAX6 BMP4
2 microphthalmia, syndromic 3 32.5 VSX2 STRA6 SOX2 SIX6 PAX6 OTX2
3 linear skin defects with multiple congenital anomalies 1 32.5 PORCN PAX6 NAA10 BCOR
4 microphthalmia, syndromic 2 32.4 H2AC18 CRYAA BCOR
5 microphthalmia, syndromic 8 32.4 VSX2 STRA6 SOX2 SNX3 PAX6 OTX2
6 microphthalmia, syndromic 10 32.3 CYP11B1 CWC15
7 microphthalmia, syndromic 1 32.3 VSX2 STRA6 NAA15 NAA10 H2AC18 BCOR
8 fryns microphthalmia syndrome 30.7 VSX2 SOX2 PAX6 OTX2
9 sox2 disorder 30.4 SOX2 SIX6
10 microphthalmia, isolated 2 30.3 VSX2 STRA6 SOX2 PAX6 OTX2
11 isolated microphthalmia 30.2 VSX2 STRA6 SIX6 OTX2
12 colobomatous microphthalmia 29.9 VSX2 STRA6 PORCN PAX6 OTX2 BMP4
13 cataract 29.2 VSX2 SOX2 SIX6 PAX6 OTX2 EYA1
14 microphthalmia 29.2 VSX2 STRA6 SOX2 SNX3 SIX6 PORCN
15 coloboma of macula 29.0 VSX2 STRA6 SOX2 SIX6 PORCN PAX6
16 microphthalmia, syndromic 5 11.6
17 microphthalmia, syndromic 12 11.5
18 microphthalmia, syndromic 9 11.5
19 microphthalmia, isolated, with coloboma 9 11.5
20 microphthalmia, syndromic 13 11.4
21 microphthalmia, syndromic 11 11.3
22 microphthalmia/coloboma and skeletal dysplasia syndrome 11.3
23 syndromic microphthalmia-anophthalmia-coloboma 11.3
24 microphthalmia, isolated 6 11.0
25 microphthalmia-ankyloblepharon-intellectual disability syndrome 11.0
26 anophthalmos with limb anomalies 11.0
27 complex chromosomal rearrangement 10.4 SIX6 OTX2
28 spastic ataxia 8 10.4 PAX6 OTX2
29 macular degeneration, age-related, 7 10.3 SOX2 PAX6 OTX2
30 extraocular retinoblastoma 10.3 VSX2 BCOR
31 orofacial cleft 11 10.3 LOC109433677 BMP4
32 nystagmus 7, congenital, autosomal dominant 10.3 SIX6 PAX6
33 persistent hyperplastic primary vitreous 10.3 VSX2 PAX6 OTX2
34 hypopituitarism 10.3 SOX2 PAX6 OTX2
35 leukocoria 10.3 VSX2 CRYAA
36 congenital aphakia 10.3 VSX2 PAX6 CRYAA
37 vitreous disease 10.3 PAX6 OTX2 CRYAA
38 infratentorial cancer 10.3 SOX2 OTX2 H2AC18
39 diaphragmatic hernia, congenital 10.3 STRA6 PORCN BMP4
40 iris disease 10.3 PAX6 OTX2 CRYAA
41 esotropia 10.2 PAX6 OTX2 CRYAA
42 lens subluxation 10.2 VSX2 PAX6 CRYAA
43 amblyopia 10.2 PAX6 OTX2 CRYAA
44 cardiomyopathy, dilated, 1j 10.2 EYA3 EYA2 EYA1
45 charge syndrome 10.2 SOX2 OTX2 H2AC18
46 sclerocornea 10.2 SIX6 PAX6 CRYAA
47 optic nerve hypoplasia, bilateral 10.2 VSX2 SIX6 PAX6 OTX2
48 septooptic dysplasia 10.2 SOX2 SIX6 PAX6 OTX2
49 intraocular retinoblastoma 10.2 CRYAA BCOR
50 anisometropia 10.2 PAX6 CRYAA

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



Diseases related to Syndromic Microphthalmia

Symptoms & Phenotypes for Syndromic Microphthalmia

MGI Mouse Phenotypes related to Syndromic Microphthalmia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.13 BCOR BMP4 CYP11B1 EYA1 EYA2 EYA3
2 endocrine/exocrine gland MP:0005379 10.07 BMP4 CYP11B1 EYA1 NAA10 OTX2 PAX6
3 embryo MP:0005380 10.06 BCOR BMP4 EYA1 OTX2 PAX6 PORCN
4 craniofacial MP:0005382 10.03 BMP4 EYA1 OTX2 PAX6 PORCN SNX3
5 nervous system MP:0003631 9.93 BCOR BMP4 EYA1 NAA10 OTX2 PAX6
6 hearing/vestibular/ear MP:0005377 9.8 BMP4 EYA1 EYA3 OTX2 PAX6 SNX3
7 pigmentation MP:0001186 9.5 NAA10 OTX2 PAX6 PORCN SOX2 STRA6
8 vision/eye MP:0005391 9.32 BMP4 EYA1 EYA3 OTX2 PAX6 PORCN

Drugs & Therapeutics for Syndromic Microphthalmia

Search Clinical Trials , NIH Clinical Center for Syndromic Microphthalmia

Genetic Tests for Syndromic Microphthalmia

Genetic tests related to Syndromic Microphthalmia:

# Genetic test Affiliating Genes
1 Syndromic Microphthalmia 29

Anatomical Context for Syndromic Microphthalmia

MalaCards organs/tissues related to Syndromic Microphthalmia:

40
Eye, Brain, Pituitary

Publications for Syndromic Microphthalmia

Articles related to Syndromic Microphthalmia:

(show all 22)
# Title Authors PMID Year
1
Bi-allelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects. 61
33565183 2021
2
Expanding the phenotype of STRA6-related disorder to include left ventricular non-compaction. 61
32597569 2020
3
CUGC for syndromic microphthalmia including next-generation sequencing-based approaches. 61
31896778 2020
4
The relevance of the cytogenetic analysis in syndromic microphthalmia/anophthalmia. 61
31809626 2019
5
Syndromic chorioretinal coloboma associated with heterozygous de novo RARA mutation affecting an amino acid critical for retinoic acid interaction. 61
31343737 2019
6
Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases. 61
31053785 2019
7
NAA10 polyadenylation signal variants cause syndromic microphthalmia. 61
30842225 2019
8
Homozygous variant in OTX2 and possible genetic modifiers identified in a patient with combined pituitary hormone deficiency, ocular involvement, myopathy, ataxia, and mitochondrial impairment. 61
30773800 2019
9
Microphthalmia is not a mandatory finding in X-linked recessive syndromic microphthalmia caused by the recurrent BCOR variant p.Pro85Leu. 61
30450806 2018
10
Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis. 61
30046887 2018
11
Intrafamilial variability in syndromic microphthalmia type 5 caused by a novel variation in OTX2. 61
28388256 2017
12
Clinical utility gene card for: Non-Syndromic Microphthalmia Including Next-Generation Sequencing-Based Approaches. 61
28098148 2017
13
Syndromic microphthalmia-3 caused by a mutation on gene SOX2 in a Colombian male patient. 61
27206652 2016
14
Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia. 61
25026905 2015
15
Prenatal diagnosis of X-linked recessive Lenz microphthalmia syndrome. 61
23815237 2013
16
Whole-genome copy number variation analysis in anophthalmia and microphthalmia. 61
23701296 2013
17
A puzzle over several decades: eye anomalies with FRAS1 and STRA6 mutations in the same family. 61
22283518 2013
18
Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes. 61
20003547 2009
19
Mutations in the CHX10 gene in non-syndromic microphthalmia/anophthalmia patients from Qatar. 61
17661825 2007
20
CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds. 61
15257456 2004
21
Genetic heterogeneity of syndromic X-linked recessive microphthalmia-anophthalmia: is Lenz microphthalmia a single disorder? 61
12116202 2002
22
Human microphthalmia associated with mutations in the retinal homeobox gene CHX10. 61
10932181 2000

Variations for Syndromic Microphthalmia

Expression for Syndromic Microphthalmia

Search GEO for disease gene expression data for Syndromic Microphthalmia.

Pathways for Syndromic Microphthalmia

GO Terms for Syndromic Microphthalmia

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

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10 VSX2 SOX2 SIX6 PAX6 OTX2 NAA15
2 transcription factor complex GO:0005667 9.26 SOX2 SIX6 NAA15 EYA3
3 NatA complex GO:0031415 8.62 NAA15 NAA10

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 10.05 SOX2 PAX6 NAA15 EYA3 EYA2 EYA1
2 positive regulation of transcription, DNA-templated GO:0045893 10.03 SOX2 PAX6 OTX2 NAA15 EYA1 BMP4
3 chromatin organization GO:0006325 9.89 SOX2 EYA3 EYA2 EYA1 BCOR
4 peptidyl-tyrosine dephosphorylation GO:0035335 9.79 EYA3 EYA2 EYA1
5 visual perception GO:0007601 9.77 VSX2 SIX6 PAX6 EYA3 CRYAA
6 negative regulation of epithelial cell proliferation GO:0050680 9.76 SOX2 PAX6 BMP4
7 camera-type eye development GO:0043010 9.75 STRA6 PAX6 BMP4
8 blood vessel development GO:0001568 9.72 STRA6 PAX6 BMP4
9 eye development GO:0001654 9.7 SOX2 SIX6 PAX6
10 negative regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001240 9.63 EYA3 EYA2 EYA1
11 forebrain development GO:0030900 9.62 SOX2 PAX6 OTX2 BMP4
12 pulmonary valve morphogenesis GO:0003184 9.61 STRA6 BMP4
13 positive regulation of DNA repair GO:0045739 9.61 EYA3 EYA2 EYA1
14 smooth muscle tissue development GO:0048745 9.6 STRA6 BMP4
15 N-terminal protein amino acid acetylation GO:0006474 9.59 NAA15 NAA10
16 pituitary gland development GO:0021983 9.58 SOX2 PAX6 BMP4
17 telencephalon regionalization GO:0021978 9.57 PAX6 BMP4
18 cell fate commitment GO:0045165 9.56 SOX2 PAX6 EYA1 BMP4
19 mesodermal cell fate specification GO:0007501 9.54 EYA2 EYA1
20 striated muscle tissue development GO:0014706 9.48 EYA2 EYA1
21 anatomical structure development GO:0048856 9.46 PAX6 EYA3 EYA2 EYA1
22 multicellular organism development GO:0007275 9.32 VSX2 SOX2 SIX6 PAX6 OTX2 NAA15
23 histone dephosphorylation GO:0016576 9.13 EYA3 EYA2 EYA1

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

# Name GO ID Score Top Affiliating Genes
1 acetyltransferase activity GO:0016407 9.16 NAA15 NAA10
2 protein tyrosine phosphatase activity GO:0004725 9.13 EYA3 EYA2 EYA1
3 peptide alpha-N-acetyltransferase activity GO:0004596 8.62 NAA15 NAA10

Sources for Syndromic Microphthalmia

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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