MCID: SYN165
MIFTS: 35

Syndromic Microphthalmia

Categories: Cardiovascular diseases, Ear diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Oral diseases, Rare diseases, Reproductive 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 3 and microphthalmia, syndromic 1. An important gene associated with Syndromic Microphthalmia is ANOP1 (Anophthalmos 1 (With Mental Retardation, Without Limb Anomalies Or Dental Or Urogenital Abnormalities)), and among its related pathways/superpathways are Mesodermal Commitment Pathway and Signaling pathways regulating pluripotency of stem cells. Affiliated tissues include eye, brain and pituitary, and related phenotypes are craniofacial and embryo

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 4
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 136)
# Related Disease Score Top Affiliating Genes
1 microphthalmia, syndromic 3 33.8 SOX2 SIX6
2 microphthalmia, syndromic 1 33.2 NAA10 BCOR
3 fryns microphthalmia syndrome 32.2 VSX2 SOX2 PAX6 OTX2
4 colobomatous microphthalmia 31.6 VSX2 STRA6 PORCN PAX6 OTX2 BMP4
5 microphthalmia, isolated 2 30.0 VSX2 SOX2 PAX6 OTX2
6 isolated microphthalmia 29.7 VSX2 STRA6 SIX6 OTX2
7 sclerocornea 29.6 SIX6 PAX6 CRYAA
8 cataract 27.3 VSX2 SOX2 SIX6 PAX6 OTX2 EYA1
9 coloboma of macula 26.7 VSX2 STRA6 SOX2 SIX6 PORCN PAX6
10 microphthalmia 26.4 VSX2 STRA6 SOX2 SNX3 SIX6 PORCN
11 bosma arhinia microphthalmia syndrome 12.6
12 linear skin defects with multiple congenital anomalies 1 12.3
13 syndromic microphthalmia-anophthalmia-coloboma 12.3
14 microphthalmia, syndromic 5 12.2
15 microphthalmia, syndromic 2 11.9
16 microphthalmia, syndromic 4 11.9
17 microphthalmia, syndromic 8 11.9
18 microphthalmia/coloboma and skeletal dysplasia syndrome 11.9
19 microphthalmia, syndromic 6 11.9
20 microphthalmia, syndromic 10 11.8
21 microphthalmia, isolated, with coloboma 9 11.8
22 microphthalmia, syndromic 13 11.7
23 microphthalmia, syndromic 9 11.7
24 microphthalmia, syndromic 11 11.7
25 microphthalmia, syndromic 12 11.7
26 microphthalmia with limb anomalies 11.4
27 microphthalmia, isolated 5 11.2
28 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 11.1
29 microphthalmia, isolated 6 11.1
30 intellectual disability - athetosis - microphthalmia 11.1
31 microphthalmia microtia fetal akinesia 11.1
32 oculo-cerebral dysplasia 11.1
33 anophthalmos with limb anomalies 11.0
34 orofacial cleft 11 10.4 LOC109433677 BMP4
35 sox2-related eye disorders 10.4 SOX2 SIX6
36 spastic ataxia 8 10.3 PAX6 OTX2
37 complex chromosomal rearrangement 10.3 SIX6 OTX2
38 congenital aphakia 10.3 VSX2 PAX6
39 macular degeneration, age-related, 7 10.3 SOX2 PAX6 OTX2
40 ablepharon-macrostomia syndrome 10.2 SOX2 PAX6
41 germ cell and embryonal cancer 10.2 SOX2 PAX6 BMP4
42 septooptic dysplasia 10.2 SOX2 PAX6 OTX2
43 persistent hyperplastic primary vitreous 10.2 VSX2 PAX6 OTX2
44 hypopituitarism 10.2 SOX2 PAX6 OTX2
45 ear malformation 10.2 SOX2 EYA1
46 cardiomyopathy, dilated, 1j 10.1 EYA3 EYA1
47 muscular dystrophy 10.1
48 charge syndrome 10.1 SOX2 PAX6 OTX2 BMP4
49 microphthalmia, isolated 3 10.1 VSX2 SOX2 PAX6 OTX2
50 facioscapulohumeral muscular dystrophy 1 10.1

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 10.03 BMP4 EYA1 OTX2 PAX6 PORCN SNX3
2 embryo MP:0005380 10.02 BCOR BMP4 EYA1 OTX2 PAX6 PORCN
3 digestive/alimentary MP:0005381 9.95 BMP4 EYA1 OTX2 PAX6 PORCN SNX3
4 endocrine/exocrine gland MP:0005379 9.92 BMP4 EYA1 OTX2 PAX6 PORCN SIX6
5 nervous system MP:0003631 9.9 BCOR BMP4 EYA1 OTX2 PAX6 PORCN
6 hearing/vestibular/ear MP:0005377 9.73 BMP4 EYA1 EYA3 OTX2 PAX6 SOX2
7 pigmentation MP:0001186 9.43 OTX2 PAX6 PORCN SOX2 STRA6 VSX2
8 vision/eye MP:0005391 9.36 BMP4 EYA1 EYA3 OTX2 PAX6 PORCN

Drugs & Therapeutics for Syndromic Microphthalmia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Molecular Analysis of Microphthalmia/Anophthalmia and Related Disorders Completed NCT00011843

Search 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 20)
# Title Authors PMID Year
1
CUGC for syndromic microphthalmia including next-generation sequencing-based approaches. 61
31896778 2020
2
The relevance of the cytogenetic analysis in syndromic microphthalmia/anophthalmia. 61
31809626 2019
3
Syndromic chorioretinal coloboma associated with heterozygous de novo RARA mutation affecting an amino acid critical for retinoic acid interaction. 61
31343737 2019
4
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
5
NAA10 polyadenylation signal variants cause syndromic microphthalmia. 61
30842225 2019
6
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
7
Microphthalmia is not a mandatory finding in X-linked recessive syndromic microphthalmia caused by the recurrent BCOR variant p.Pro85Leu. 61
30450806 2018
8
Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis. 61
30046887 2018
9
Intrafamilial variability in syndromic microphthalmia type 5 caused by a novel variation in OTX2. 61
28388256 2017
10
Clinical utility gene card for: Non-Syndromic Microphthalmia Including Next-Generation Sequencing-Based Approaches. 61
28098148 2017
11
Syndromic microphthalmia-3 caused by a mutation on gene SOX2 in a Colombian male patient. 61
27206652 2016
12
Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia. 61
25026905 2015
13
Whole-genome copy number variation analysis in anophthalmia and microphthalmia. 61
23701296 2013
14
Prenatal diagnosis of X-linked recessive Lenz microphthalmia syndrome. 61
23815237 2013
15
A puzzle over several decades: eye anomalies with FRAS1 and STRA6 mutations in the same family. 61
22283518 2013
16
Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes. 61
20003547 2009
17
Mutations in the CHX10 gene in non-syndromic microphthalmia/anophthalmia patients from Qatar. 61
17661825 2007
18
CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds. 61
15257456 2004
19
Genetic heterogeneity of syndromic X-linked recessive microphthalmia-anophthalmia: is Lenz microphthalmia a single disorder? 61
12116202 2002
20
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 nuclear chromatin GO:0000790 9.1 ZBTB8B VSX2 SOX2 SIX6 PAX6 OTX2

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.09 VSX2 SOX2 PAX6 OTX2 EYA1 BMP4
2 cell differentiation GO:0030154 10.05 SOX2 PAX6 EYA3 EYA2 EYA1 BMP4
3 positive regulation of transcription, DNA-templated GO:0045893 10 SOX2 PAX6 OTX2 EYA1 BMP4
4 chromatin organization GO:0006325 9.88 SOX2 EYA3 EYA2 EYA1 BCOR
5 animal organ morphogenesis GO:0009887 9.8 SIX6 PAX6 EYA1
6 anatomical structure morphogenesis GO:0009653 9.79 SOX2 EYA3 EYA1
7 peptidyl-tyrosine dephosphorylation GO:0035335 9.77 EYA3 EYA2 EYA1
8 visual perception GO:0007601 9.77 VSX2 SIX6 PAX6 EYA3 CRYAA
9 negative regulation of epithelial cell proliferation GO:0050680 9.74 SOX2 PAX6 BMP4
10 camera-type eye development GO:0043010 9.73 STRA6 PAX6 BMP4
11 blood vessel development GO:0001568 9.72 STRA6 PAX6 BMP4
12 eye development GO:0001654 9.67 SOX2 SIX6 PAX6
13 negative regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001240 9.63 EYA3 EYA2 EYA1
14 forebrain development GO:0030900 9.62 SOX2 PAX6 OTX2 BMP4
15 positive regulation of DNA repair GO:0045739 9.61 EYA3 EYA2 EYA1
16 multicellular organism development GO:0007275 9.61 VSX2 SOX2 SIX6 PAX6 OTX2 EYA3
17 pulmonary valve morphogenesis GO:0003184 9.6 STRA6 BMP4
18 smooth muscle tissue development GO:0048745 9.58 STRA6 BMP4
19 pituitary gland development GO:0021983 9.58 SOX2 PAX6 BMP4
20 cell fate commitment GO:0045165 9.56 SOX2 PAX6 EYA1 BMP4
21 telencephalon regionalization GO:0021978 9.54 PAX6 BMP4
22 striated muscle tissue development GO:0014706 9.52 EYA2 EYA1
23 mesodermal cell fate specification GO:0007501 9.51 EYA2 EYA1
24 anatomical structure development GO:0048856 9.46 SIX6 EYA3 EYA2 EYA1
25 histone dephosphorylation GO:0016576 8.8 EYA3 EYA2 EYA1

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

# Name GO ID Score Top Affiliating Genes
1 phosphoprotein phosphatase activity GO:0004721 9.33 EYA3 EYA2 EYA1
2 protein tyrosine phosphatase activity GO:0004725 9.13 EYA3 EYA2 EYA1
3 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.1 ZBTB8B VSX2 SOX2 SIX6 PAX6 OTX2

Sources for Syndromic 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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