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

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Aliases & Descriptions for Microphthalmia, Syndromic 2:

Name: Microphthalmia, Syndromic 2 52 24 25 12 68
Oculofaciocardiodental Syndrome 48 24 25 70 27
Ofcd Syndrome 48 24 25 70 50
Mcops2 48 24 25 70
Oculo-Facio-Cardio-Dental Syndrome 25 70
Microphthalmia, Cataracts, Radiculomegaly, and Septal Heart Defects 25
Microphthalmia, Cataracts, Radiculomegaly and Septal Heart Defects 70
Microphthalmia Cataracts Radiculomegaly and Septal Heart Defects 48
Syndromic Microphthalmia Type 2 48
Microphthalmia, Syndromic, 2 70
Microphthalmia Syndromic 2 48
Marashi-Gorlin Syndrome 70



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


External Ids:

OMIM52 300166
MeSH39 D008850

Summaries for Microphthalmia, Syndromic 2

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UniProtKB/Swiss-Prot:70 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 unspecified visual loss, unspecified visual loss and cryptorchidism. An important gene associated with Microphthalmia, Syndromic 2 is BCOR (BCL6 Corepressor), and among its related pathways is Signaling events mediated by HDAC Class II. Affiliated tissues include heart and eye.

NIH Rare Diseases:48 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:52 300166

Related Diseases for Microphthalmia, Syndromic 2

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Symptoms & Phenotypes for Microphthalmia, Syndromic 2

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Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:


Human phenotypes related to Microphthalmia, Syndromic 2:

 64 (show all 79)
id Description HPO Frequency HPO Source Accession
1 cryptorchidism64 HP:0000028
2 hypospadias64 HP:0000047
3 submucous cleft hard palate64 HP:0000176
4 bifid uvula64 HP:0000193
5 microcephaly64 HP:0000252
6 narrow face64 HP:0000275
7 long face64 HP:0000276
8 long philtrum64 HP:0000343
9 posteriorly rotated ears64 HP:0000358
10 sensorineural hearing impairment64 HP:0000407
11 prominent nasal bridge64 HP:0000426
12 broad nasal tip64 HP:0000455
13 bifid nasal tip64 HP:0000456
14 microcornea64 HP:0000482
15 glaucoma64 HP:0000501
16 ptosis64 HP:0000508
17 congenital cataract64 HP:0000519
18 anophthalmia64 HP:0000528
19 retinal detachment64 HP:0000541
20 microphthalmia64 HP:0000568
21 visual loss64 HP:0000572
22 thick eyebrow64 HP:0000574
23 exotropia64 HP:0000577
24 blepharophimosis64 HP:0000581
25 phthisis bulbi64 HP:0000667
26 oligodontia64 HP:0000677
27 delayed eruption of teeth64 HP:0000684
28 dental malocclusion64 HP:0000689
29 hypothyroidism64 HP:0000821
30 adrenal insufficiency64 HP:0000846
31 septate vagina64 HP:0001153
32 hand clenching64 HP:0001188
33 seizures64 HP:0001250
34 intellectual disability, mild64 HP:0001256
35 motor delay64 HP:0001270
36 flexion contracture64 HP:0001371
37 umbilical hernia64 HP:0001537
38 ventricular septal defect64 HP:0001629
39 atrial septal defect64 HP:0001631
40 mitral valve prolapse64 HP:0001634
41 pulmonic stenosis64 HP:0001642
42 patent ductus arteriosus64 HP:0001643
43 aortic valve stenosis64 HP:0001650
44 dextrocardia64 HP:0001651
45 double outlet right ventricle64 HP:0001719
46 talipes equinovarus64 HP:0001762
47 hammertoe64 HP:0001765
48 hypoplasia of the corpus callosum64 HP:0002079
49 spastic paraparesis64 HP:0002313
50 scoliosis64 HP:0002650
51 radioulnar synostosis64 HP:0002974
52 short stature64 HP:0004322
53 decreased body weight64 HP:0004325
54 2-3 toe syndactyly64 HP:0004691
55 persistence of primary teeth64 HP:0006335
56 laterally curved eyebrow64 HP:0007733
57 remnants of the hyaloid vascular system64 HP:0007968
58 asymmetry of the ears64 HP:0010722
59 increased number of teeth64 HP:0011069
60 fused teeth64 HP:0011090
61 cataract64 HP:0000518
62 iris coloboma64 HP:0000612
63 misalignment of teeth64 HP:0000692
64 ectopia lentis64 HP:0001083
65 broad palm64 HP:0001169
66 intellectual disability64 HP:0001249
67 global developmental delay64 HP:0001263
68 abnormality of the cardiac septa64 HP:0001671
69 highly arched eyebrow64 HP:0002553
70 intestinal malrotation64 HP:0002566
71 genu valgum64 HP:0002857
72 cubitus valgus64 HP:0002967
73 clinodactyly of the 5th finger64 HP:0004209
74 peripheral pulmonary artery stenosis64 HP:0004969
75 single median maxillary incisor64 HP:0006315
76 feeding difficulties in infancy64 HP:0008872
77 short thumb64 HP:0009778
78 flexion contracture of the 2nd toe64 HP:0010327
79 flexion contracture of the 4th toe64 HP:0010339

UMLS symptoms related to Microphthalmia, Syndromic 2:

unspecified visual loss

Drugs & Therapeutics for Microphthalmia, Syndromic 2

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Microphthalmia, Syndromic 2

Genetic Tests for Microphthalmia, Syndromic 2

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Genetic tests related to Microphthalmia, Syndromic 2:

id Genetic test Affiliating Genes
1 Oculofaciocardiodental Syndrome27
2 Microphthalmia, Syndromic 224 BCOR

Anatomical Context for Microphthalmia, Syndromic 2

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MalaCards organs/tissues related to Microphthalmia, Syndromic 2:

Heart, Eye

Publications for Microphthalmia, Syndromic 2

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Variations for Microphthalmia, Syndromic 2

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

id Symbol AA change Variation ID SNP ID

Clinvar genetic disease variations for Microphthalmia, Syndromic 2:

5 (show all 16)
id Gene Variation Type Significance SNP ID Assembly Location
1BCORNM_ 017745.5(BCOR): c.254C> T (p.Pro85Leu)SNVPathogenicrs121434618GRCh37Chr X, 39934345: 39934345
2BCORBCOR, IVS8AS, G-T, -1SNVPathogenic
3BCORNM_ 001123383.1(BCOR): c.2926C> T (p.Arg976Ter)SNVPathogenicrs121434619GRCh37Chr X, 39931673: 39931673
4BCORBCOR, 1-BP DEL, 3881AdeletionPathogenic
5BCORBCOR, EX9-15DELdeletionPathogenic
6BCORBCOR, 2-BP DEL, 2488AGdeletionPathogenic
7BCORBCOR, 1-BP DEL, 3286GdeletionPathogenic
8BCORBCOR, 60-KB DELdeletionPathogenic
9BCORNM_ 017745.5(BCOR): c.2613delC (p.Phe871Leufs)deletionPathogenicrs730880013GRCh38Chr X, 40072733: 40072733
10BCORNC_ 000023.11: g.(?_ 40051246)_ (40075180_ ?)deldeletionPathogenicGRCh38Chr X, 40051246: 40075180
11BCORNG_ 008880.1: g.127856_ 129265del1410deletionPathogenicGRCh38Chr X, 40053065: 40054474
12BCORNM_ 001123385.1(BCOR): c.4304_ 4308delCATGC (p.Pro1435Leufs)deletionPathogenicrs730880034GRCh38Chr X, 40062259: 40062263
13BCORNM_ 001123383.1(BCOR): c.4760dupC (p.Gly1588Argfs)duplicationPathogenicrs797044647GRCh37Chr X, 39913253: 39913253
14BCORNM_ 017745.5(BCOR): c.4009C> T (p.Gln1337Ter)SNVLikely pathogenicrs863224850GRCh37Chr X, 39922061: 39922061
15BCORNM_ 001123383.1(BCOR): c.3781_ 3782delAG (p.Leu1262Phefs)deletionPathogenicrs886042842GRCh37Chr X, 39922288: 39922289
16BCORNC_ 000023.11: g.(?_ 40057155)_ (40077969_ ?)deldeletionPathogenicGRCh37Chr X, 39916408: 39937222

Expression for genes affiliated with Microphthalmia, Syndromic 2

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

Pathways for genes affiliated with Microphthalmia, Syndromic 2

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

idSuper pathwaysScoreTop Affiliating Genes
19.1BCL6, BCOR

GO Terms for genes affiliated with Microphthalmia, Syndromic 2

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

idNameGO IDScoreTop Affiliating Genes
1negative regulation of transcription from RNA polymerase II promoterGO:00001229.8BCL6, BCOR
2negative regulation of transcription, DNA-templatedGO:00458929.1BCL6, BCOR

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

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II regulatory region sequence-specific DNA bindingGO:00009779.1BCL6, BCOR

Sources for Microphthalmia, Syndromic 2

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31ICD10 via Orphanet
40MESH via Orphanet
53OMIM via Orphanet
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
69UMLS via Orphanet