MCID: MCR261
MIFTS: 33

Microphthalmia, Syndromic 2 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 51 25 12 67
Oculofaciocardiodental Syndrome 47 24 25 69 26
Ofcd Syndrome 47 24 25 69 49
Mcops2 47 24 25 69
Oculo-Facio-Cardio-Dental Syndrome 25 69
Microphthalmia, Cataracts, Radiculomegaly, and Septal Heart Defects 25
Microphthalmia, Cataracts, Radiculomegaly and Septal Heart Defects 69
 
Microphthalmia Cataracts Radiculomegaly and Septal Heart Defects 47
Syndromic Microphthalmia Type 2 47
Microphthalmia, Syndromic, 2 69
Microphthalmia Syndromic 2 47
Syndromic Microphthalmia 2 24
Marashi-Gorlin Syndrome 69

Characteristics:

HPO:

63
microphthalmia, syndromic 2:
Inheritance: x-linked dominant inheritance

Classifications:



External Ids:

OMIM51 300166
MeSH38 D008850

Summaries for Microphthalmia, Syndromic 2

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UniProtKB/Swiss-Prot:69 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 microcornea, cataract and delayed eruption of teeth. 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.

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.

NIH Rare Diseases:47 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

Description from OMIM:51 300166

Related Diseases for Microphthalmia, Syndromic 2

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Symptoms for Microphthalmia, Syndromic 2

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Symptoms by clinical synopsis from OMIM:

300166

Clinical features from OMIM:

300166

Human phenotypes related to Microphthalmia, Syndromic 2:

 63 (show all 81)
id Description HPO Frequency HPO Source Accession
1 microcornea63 hallmark (90%) HP:0000482
2 cataract63 hallmark (90%) HP:0000518
3 delayed eruption of teeth63 hallmark (90%) HP:0000684
4 abnormality of the cardiac septa63 hallmark (90%) HP:0001671
5 midline defect of the nose63 hallmark (90%) HP:0004122
6 aplasia/hypoplasia affecting the eye63 hallmark (90%) HP:0008056
7 cleft palate63 typical (50%) HP:0000175
8 narrow face63 typical (50%) HP:0000275
9 long philtrum63 typical (50%) HP:0000343
10 prominent nasal bridge63 typical (50%) HP:0000426
11 toe syndactyly63 typical (50%) HP:0001770
12 camptodactyly of toe63 typical (50%) HP:0001836
13 radioulnar synostosis63 typical (50%) HP:0002974
14 reduced number of teeth63 typical (50%) HP:0009804
15 sensorineural hearing impairment63 occasional (7.5%) HP:0000407
16 glaucoma63 occasional (7.5%) HP:0000501
17 ptosis63 occasional (7.5%) HP:0000508
18 retinal detachment63 occasional (7.5%) HP:0000541
19 iris coloboma63 occasional (7.5%) HP:0000612
20 ectopia lentis63 occasional (7.5%) HP:0001083
21 abnormality of the mitral valve63 occasional (7.5%) HP:0001633
22 abnormality of the pulmonary valve63 occasional (7.5%) HP:0001641
23 patent ductus arteriosus63 occasional (7.5%) HP:0001643
24 highly arched eyebrow63 occasional (7.5%) HP:0002553
25 intestinal malrotation63 occasional (7.5%) HP:0002566
26 scoliosis63 occasional (7.5%) HP:0002650
27 genu valgum63 occasional (7.5%) HP:0002857
28 cubitus valgus63 occasional (7.5%) HP:0002967
29 clinodactyly of the 5th finger63 occasional (7.5%) HP:0004209
30 single median maxillary incisor63 occasional (7.5%) HP:0006315
31 feeding difficulties in infancy63 occasional (7.5%) HP:0008872
32 aplasia/hypoplasia of the thumb63 occasional (7.5%) HP:0009601
33 cognitive impairment63 occasional (7.5%) HP:0100543
34 hypospadias63 rare (5%) HP:0000047
35 phthisis bulbi63 rare (5%) HP:0000667
36 hypothyroidism63 rare (5%) HP:0000821
37 adrenal insufficiency63 rare (5%) HP:0000846
38 hand clenching63 rare (5%) HP:0001188
39 seizures63 rare (5%) HP:0001250
40 flexion contracture63 rare (5%) HP:0001371
41 umbilical hernia63 rare (5%) HP:0001537
42 dextrocardia63 rare (5%) HP:0001651
43 double outlet right ventricle63 rare (5%) HP:0001719
44 talipes equinovarus63 rare (5%) HP:0001762
45 hypoplasia of the corpus callosum63 rare (5%) HP:0002079
46 spastic paraparesis63 rare (5%) HP:0002313
47 decreased body weight63 rare (5%) HP:0004325
48 cryptorchidism63 HP:0000028
49 submucous cleft hard palate63 HP:0000176
50 bifid uvula63 HP:0000193
51 microcephaly63 HP:0000252
52 long face63 HP:0000276
53 posteriorly rotated ears63 HP:0000358
54 broad nasal tip63 HP:0000455
55 bifid nasal tip63 HP:0000456
56 congenital cataract63 HP:0000519
57 anophthalmia63 HP:0000528
58 microphthalmia63 HP:0000568
59 visual loss63 HP:0000572
60 thick eyebrow63 HP:0000574
61 exotropia63 HP:0000577
62 blepharophimosis63 HP:0000581
63 oligodontia63 HP:0000677
64 dental malocclusion63 HP:0000689
65 septate vagina63 HP:0001153
66 intellectual disability, mild63 HP:0001256
67 motor delay63 HP:0001270
68 ventricular septal defect63 HP:0001629
69 atria septal defect63 HP:0001631
70 mitral valve prolapse63 HP:0001634
71 pulmonic stenosis63 HP:0001642
72 aortic valve stenosis63 HP:0001650
73 hammertoe63 HP:0001765
74 short stature63 HP:0004322
75 2-3 toe syndactyly63 HP:0004691
76 persistence of primary teeth63 HP:0006335
77 laterally curved eyebrow63 HP:0007733
78 remnants of the hyaloid vascular system63 HP:0007968
79 asymmetry of the ears63 HP:0010722
80 increased number of teeth63 HP:0011069
81 fused teeth63 HP:0011090

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 Syndrome26
2 Syndromic Microphthalmia 224 BCOR

Anatomical Context for Microphthalmia, Syndromic 2

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MalaCards organs/tissues related to Microphthalmia, Syndromic 2:

35
Heart, Eye

Animal Models for Microphthalmia, Syndromic 2 or affiliated genes

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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:

69
id Symbol AA change Variation ID SNP ID
1BCORp.Pro85LeuVAR_020921rs28935183

Clinvar genetic disease variations for Microphthalmia, Syndromic 2:

5 (show all 15)
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, -1SNVPathogenicChr na, -1: -1
3BCORNM_001123383.1(BCOR): c.2926C> T (p.Arg976Ter)SNVPathogenicrs121434619GRCh37Chr X, 39931673: 39931673
4BCORBCOR, 1-BP DEL, 3881AdeletionPathogenicChr na, -1: -1
5BCORBCOR, EX9-15DELdeletionPathogenicChr na, -1: -1
6BCORBCOR, 2-BP DEL, 2488AGdeletionPathogenicChr na, -1: -1
7BCORBCOR, 1-BP DEL, 3286GdeletionPathogenicChr na, -1: -1
8BCORBCOR, 60-KB DELdeletionPathogenicChr na, -1: -1
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)deletionPathogenicrs886042842GRCh38Chr X, 40063035: 40063036

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:00001229.1BCL6, BCOR
2negative regulation of transcription, DNA-templatedGO:00458928.8BCL6, BCOR

Sources for Microphthalmia, Syndromic 2

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet