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 52 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
Syndromic Microphthalmia 2 24
Marashi-Gorlin Syndrome 70

Characteristics:

HPO:

64
microphthalmia, syndromic 2:
Inheritance: x-linked dominant inheritance

Classifications:



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 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: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

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:

300166

Clinical features from OMIM:

300166

Human phenotypes related to Microphthalmia, Syndromic 2:

 64 (show all 81)
id Description HPO Frequency HPO Source Accession
1 microcornea64 hallmark (90%) HP:0000482
2 cataract64 hallmark (90%) HP:0000518
3 delayed eruption of teeth64 hallmark (90%) HP:0000684
4 abnormality of the cardiac septa64 hallmark (90%) HP:0001671
5 midline defect of the nose64 hallmark (90%) HP:0004122
6 aplasia/hypoplasia affecting the eye64 hallmark (90%) HP:0008056
7 cleft palate64 typical (50%) HP:0000175
8 narrow face64 typical (50%) HP:0000275
9 long philtrum64 typical (50%) HP:0000343
10 prominent nasal bridge64 typical (50%) HP:0000426
11 toe syndactyly64 typical (50%) HP:0001770
12 camptodactyly of toe64 typical (50%) HP:0001836
13 radioulnar synostosis64 typical (50%) HP:0002974
14 reduced number of teeth64 typical (50%) HP:0009804
15 sensorineural hearing impairment64 occasional (7.5%) HP:0000407
16 glaucoma64 occasional (7.5%) HP:0000501
17 ptosis64 occasional (7.5%) HP:0000508
18 retinal detachment64 occasional (7.5%) HP:0000541
19 iris coloboma64 occasional (7.5%) HP:0000612
20 ectopia lentis64 occasional (7.5%) HP:0001083
21 abnormality of the mitral valve64 occasional (7.5%) HP:0001633
22 abnormality of the pulmonary valve64 occasional (7.5%) HP:0001641
23 patent ductus arteriosus64 occasional (7.5%) HP:0001643
24 highly arched eyebrow64 occasional (7.5%) HP:0002553
25 intestinal malrotation64 occasional (7.5%) HP:0002566
26 scoliosis64 occasional (7.5%) HP:0002650
27 genu valgum64 occasional (7.5%) HP:0002857
28 cubitus valgus64 occasional (7.5%) HP:0002967
29 clinodactyly of the 5th finger64 occasional (7.5%) HP:0004209
30 single median maxillary incisor64 occasional (7.5%) HP:0006315
31 feeding difficulties in infancy64 occasional (7.5%) HP:0008872
32 aplasia/hypoplasia of the thumb64 occasional (7.5%) HP:0009601
33 cognitive impairment64 occasional (7.5%) HP:0100543
34 hypospadias64 rare (5%) HP:0000047
35 phthisis bulbi64 rare (5%) HP:0000667
36 hypothyroidism64 rare (5%) HP:0000821
37 adrenal insufficiency64 rare (5%) HP:0000846
38 hand clenching64 rare (5%) HP:0001188
39 seizures64 rare (5%) HP:0001250
40 flexion contracture64 rare (5%) HP:0001371
41 umbilical hernia64 rare (5%) HP:0001537
42 dextrocardia64 rare (5%) HP:0001651
43 double outlet right ventricle64 rare (5%) HP:0001719
44 talipes equinovarus64 rare (5%) HP:0001762
45 hypoplasia of the corpus callosum64 rare (5%) HP:0002079
46 spastic paraparesis64 rare (5%) HP:0002313
47 decreased body weight64 rare (5%) HP:0004325
48 cryptorchidism64 HP:0000028
49 submucous cleft hard palate64 HP:0000176
50 bifid uvula64 HP:0000193
51 microcephaly64 HP:0000252
52 long face64 HP:0000276
53 posteriorly rotated ears64 HP:0000358
54 broad nasal tip64 HP:0000455
55 bifid nasal tip64 HP:0000456
56 congenital cataract64 HP:0000519
57 anophthalmia64 HP:0000528
58 microphthalmia64 HP:0000568
59 visual loss64 HP:0000572
60 thick eyebrow64 HP:0000574
61 exotropia64 HP:0000577
62 blepharophimosis64 HP:0000581
63 oligodontia64 HP:0000677
64 dental malocclusion64 HP:0000689
65 septate vagina64 HP:0001153
66 intellectual disability, mild64 HP:0001256
67 motor delay64 HP:0001270
68 ventricular septal defect64 HP:0001629
69 atria septal defect64 HP:0001631
70 mitral valve prolapse64 HP:0001634
71 pulmonic stenosis64 HP:0001642
72 aortic valve stenosis64 HP:0001650
73 hammertoe64 HP:0001765
74 short stature64 HP:0004322
75 2-3 toe syndactyly64 HP:0004691
76 persistence of primary teeth64 HP:0006335
77 laterally curved eyebrow64 HP:0007733
78 remnants of the hyaloid vascular system64 HP:0007968
79 asymmetry of the ears64 HP:0010722
80 increased number of teeth64 HP:0011069
81 fused teeth64 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 Syndrome27
2 Syndromic Microphthalmia 224 BCOR

Anatomical Context for Microphthalmia, Syndromic 2

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MalaCards organs/tissues related to Microphthalmia, Syndromic 2:

36
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:

70
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:00001229.8BCL6, BCOR
2negative regulation of transcription, DNA-templatedGO:00458929.1BCL6, BCOR

Sources for Microphthalmia, Syndromic 2

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet