MCOPS2
MCID: MCR261
MIFTS: 34

Microphthalmia, Syndromic 2 (MCOPS2) malady

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

Aliases & Classifications for Microphthalmia, Syndromic 2

Aliases & Descriptions for Microphthalmia, Syndromic 2:

Name: Microphthalmia, Syndromic 2 54 24 25 13 69
Oculofaciocardiodental Syndrome 50 24 25 66 29
Ofcd Syndrome 50 24 25 66 52
Mcops2 50 24 25 66
Oculo-Facio-Cardio-Dental Syndrome 25 66
Microphthalmia, Cataracts, Radiculomegaly, and Septal Heart Defects 25
Microphthalmia, Cataracts, Radiculomegaly and Septal Heart Defects 66
Microphthalmia Cataracts Radiculomegaly and Septal Heart Defects 50
Syndromic Microphthalmia Type 2 50
Microphthalmia, Syndromic, 2 66
Microphthalmia Syndromic 2 50
Marashi-Gorlin Syndrome 66

Characteristics:

HPO:

32
microphthalmia, syndromic 2:
Inheritance x-linked dominant inheritance


Classifications:



External Ids:

OMIM 54 300166
MeSH 42 D008850

Summaries for Microphthalmia, Syndromic 2

UniProtKB/Swiss-Prot : 66 Microphthalmia, syndromic, 2: A very rare multiple congenital anomaly syndrome characterized by eye anomalies (congenital cataract, microphthalmia, or secondary glaucoma), facial abnormalities (long narrow face, high nasal bridge, pointed nose with cartilages separated at the tip, cleft palate, or submucous cleft palate), cardiac anomalies (atrial septal defect, ventricular septal defect, or floppy mitral valve) and dental abnormalities (canine radiculomegaly, delayed dentition, oligodontia, persistent primary teeth, or variable root length). 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.

MalaCards based summary : Microphthalmia, Syndromic 2, also known as oculofaciocardiodental syndrome, is related to bcor-related lenz microphthalmia syndrome and microphthalmia, syndromic 1, and has symptoms including seizures, genu valgum and ptosis. An important gene associated with Microphthalmia, Syndromic 2 is BCOR (BCL6 Corepressor), and among its related pathways/superpathways is Signaling events mediated by HDAC Class II. Affiliated tissues include heart and eye.

NIH Rare Diseases : 50 oculofaciocardiodental syndrome is a genetic syndrome that affects the eyes, heart, face, and teeth. common signs and symptoms include abnormally small deep-set eyes, cataracts, long narrow face, a broad nasal tip that is divided by a cleft, heart defects, and teeth with very large roots. other signs and symptoms include glaucoma, cleft palate, delayed loss of baby teeth, missing or abnormally small teeth, misaligned teeth, and defective tooth enamel. eye symptoms may involve one or both eyes.oculofaciocardiodental syndrome is caused by mutations in the bcor gene and is inherited in an x-linked dominant fashion. last updated: 12/21/2012

Genetics Home Reference : 25 Oculofaciocardiodental (OFCD) syndrome is a condition that affects the development of the eyes (oculo-), facial features (facio-), heart (cardio-) and teeth (dental). This condition occurs only in females.

Description from OMIM: 300166

Related Diseases for Microphthalmia, Syndromic 2

Symptoms & Phenotypes for Microphthalmia, Syndromic 2

Symptoms by clinical synopsis from OMIM:

300166

Clinical features from OMIM:

300166

Human phenotypes related to Microphthalmia, Syndromic 2:

32 (show top 50) (show all 79)
id Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 genu valgum 32 HP:0002857
3 ptosis 32 HP:0000508
4 hypothyroidism 32 HP:0000821
5 intellectual disability 32 HP:0001249
6 scoliosis 32 HP:0002650
7 cataract 32 HP:0000518
8 dental malocclusion 32 HP:0000689
9 global developmental delay 32 HP:0001263
10 umbilical hernia 32 HP:0001537
11 microcephaly 32 HP:0000252
12 sensorineural hearing impairment 32 HP:0000407
13 thick eyebrow 32 HP:0000574
14 short stature 32 HP:0004322
15 flexion contracture 32 HP:0001371
16 feeding difficulties in infancy 32 HP:0008872
17 intellectual disability, mild 32 HP:0001256
18 long philtrum 32 HP:0000343
19 delayed eruption of teeth 32 HP:0000684
20 patent ductus arteriosus 32 HP:0001643
21 cryptorchidism 32 HP:0000028
22 cubitus valgus 32 HP:0002967
23 prominent nasal bridge 32 HP:0000426
24 microphthalmia 32 HP:0000568
25 hypospadias 32 HP:0000047
26 clinodactyly of the 5th finger 32 HP:0004209
27 glaucoma 32 HP:0000501
28 retinal detachment 32 HP:0000541
29 visual loss 32 HP:0000572
30 narrow face 32 HP:0000275
31 ectopia lentis 32 HP:0001083
32 mitral valve prolapse 32 HP:0001634
33 increased number of teeth 32 HP:0011069
34 broad nasal tip 32 HP:0000455
35 long face 32 HP:0000276
36 ventricular septal defect 32 HP:0001629
37 talipes equinovarus 32 HP:0001762
38 intestinal malrotation 32 HP:0002566
39 blepharophimosis 32 HP:0000581
40 pulmonic stenosis 32 HP:0001642
41 abnormality of the cardiac septa 32 HP:0001671
42 radioulnar synostosis 32 HP:0002974
43 peripheral pulmonary artery stenosis 32 HP:0004969
44 highly arched eyebrow 32 HP:0002553
45 iris coloboma 32 HP:0000612
46 microcornea 32 HP:0000482
47 decreased body weight 32 HP:0004325
48 anophthalmia 32 HP:0000528
49 dextrocardia 32 HP:0001651
50 motor delay 32 HP:0001270

UMLS symptoms related to Microphthalmia, Syndromic 2:


unspecified visual loss

Drugs & Therapeutics for Microphthalmia, Syndromic 2

Search Clinical Trials , NIH Clinical Center for Microphthalmia, Syndromic 2

Genetic Tests for Microphthalmia, Syndromic 2

Genetic tests related to Microphthalmia, Syndromic 2:

id Genetic test Affiliating Genes
1 Oculofaciocardiodental Syndrome 29
2 Microphthalmia, Syndromic 2 24 BCOR

Anatomical Context for Microphthalmia, Syndromic 2

MalaCards organs/tissues related to Microphthalmia, Syndromic 2:

39
Heart, Eye

Publications for Microphthalmia, Syndromic 2

Variations for Microphthalmia, Syndromic 2

UniProtKB/Swiss-Prot genetic disease variations for Microphthalmia, Syndromic 2:

66
id Symbol AA change Variation ID SNP ID
1 BCOR p.Pro85Leu VAR_020921 rs28935183

ClinVar genetic disease variations for Microphthalmia, Syndromic 2:

6 (show all 16)
id Gene Variation Type Significance SNP ID Assembly Location
1 BCOR BCOR, EX9-15DEL deletion Pathogenic
2 BCOR BCOR, 2-BP DEL, 2488AG deletion Pathogenic
3 BCOR NM_017745.5(BCOR): c.254C> T (p.Pro85Leu) single nucleotide variant Pathogenic rs121434618 GRCh37 Chromosome X, 39934345: 39934345
4 BCOR BCOR, IVS8AS, G-T, -1 single nucleotide variant Pathogenic
5 BCOR NM_001123383.1(BCOR): c.2926C> T (p.Arg976Ter) single nucleotide variant Pathogenic rs121434619 GRCh37 Chromosome X, 39931673: 39931673
6 BCOR BCOR, 1-BP DEL, 3881A deletion Pathogenic
7 BCOR BCOR, 1-BP DEL, 3286G deletion Pathogenic
8 BCOR BCOR, 60-KB DEL deletion Pathogenic
9 BCOR NM_017745.5(BCOR): c.2613delC (p.Phe871Leufs) deletion Pathogenic rs730880013 GRCh38 Chromosome X, 40072733: 40072733
10 BCOR NC_000023.11: g.(?_40051246)_(40075180_?)del deletion Pathogenic GRCh38 Chromosome X, 40051246: 40075180
11 BCOR NG_008880.1: g.127856_129265del1410 deletion Pathogenic GRCh38 Chromosome X, 40053065: 40054474
12 BCOR NM_001123385.1(BCOR): c.4304_4308delCATGC (p.Pro1435Leufs) deletion Pathogenic rs730880034 GRCh38 Chromosome X, 40062259: 40062263
13 BCOR NM_001123383.1(BCOR): c.4760dupC (p.Gly1588Argfs) duplication Pathogenic rs797044647 GRCh37 Chromosome X, 39913253: 39913253
14 BCOR NM_017745.5(BCOR): c.4009C> T (p.Gln1337Ter) single nucleotide variant Likely pathogenic rs863224850 GRCh37 Chromosome X, 39922061: 39922061
15 BCOR NM_001123383.1(BCOR): c.3781_3782delAG (p.Leu1262Phefs) deletion Pathogenic rs886042842 GRCh37 Chromosome X, 39922288: 39922289
16 BCOR NC_000023.11: g.(?_40057155)_(40077969_?)del deletion Pathogenic GRCh37 Chromosome X, 39916408: 39937222

Expression for Microphthalmia, Syndromic 2

Search GEO for disease gene expression data for Microphthalmia, Syndromic 2.

Pathways for Microphthalmia, Syndromic 2

Pathways related to Microphthalmia, Syndromic 2 according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 10.15 BCL6 BCOR

GO Terms for Microphthalmia, Syndromic 2

Biological processes related to Microphthalmia, Syndromic 2 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription from RNA polymerase II promoter GO:0000122 8.96 BCL6 BCOR
2 negative regulation of transcription, DNA-templated GO:0045892 8.62 BCL6 BCOR

Molecular functions related to Microphthalmia, Syndromic 2 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 8.62 BCL6 BCOR

Sources for Microphthalmia, Syndromic 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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