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 50 24 12 66
Oculofaciocardiodental Syndrome 46 23 24 68 25
Ofcd Syndrome 46 23 24 68 48
Mcops2 46 23 24 68
Oculo-Facio-Cardio-Dental Syndrome 24 68
Microphthalmia, Cataracts, Radiculomegaly, and Septal Heart Defects 24
Microphthalmia, Cataracts, Radiculomegaly and Septal Heart Defects 68
Microphthalmia Cataracts Radiculomegaly and Septal Heart Defects 46
Syndromic Microphthalmia Type 2 46
Microphthalmia, Syndromic, 2 68
Microphthalmia Syndromic 2 46
Syndromic Microphthalmia 2 23
Marashi-Gorlin Syndrome 68
Anop2 46
Maa2 46



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


External Ids:

OMIM50 300166
MeSH37 D008850

Summaries for Microphthalmia, Syndromic 2

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UniProtKB/Swiss-Prot:68 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.

NIH Rare Diseases:46 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:24 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:50 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:


Clinical features from OMIM:


HPO human phenotypes related to Microphthalmia, Syndromic 2:

(show all 93)
id Description Frequency HPO Source Accession
1 microcornea hallmark (90%) HP:0000482
2 cataract hallmark (90%) HP:0000518
3 delayed eruption of teeth hallmark (90%) HP:0000684
4 abnormality of the cardiac septa hallmark (90%) HP:0001671
5 midline defect of the nose hallmark (90%) HP:0004122
6 aplasia/hypoplasia affecting the eye hallmark (90%) HP:0008056
7 cleft palate typical (50%) HP:0000175
8 narrow face typical (50%) HP:0000275
9 long philtrum typical (50%) HP:0000343
10 prominent nasal bridge typical (50%) HP:0000426
11 toe syndactyly typical (50%) HP:0001770
12 camptodactyly of toe typical (50%) HP:0001836
13 radioulnar synostosis typical (50%) HP:0002974
14 reduced number of teeth typical (50%) HP:0009804
15 sensorineural hearing impairment occasional (7.5%) HP:0000407
16 glaucoma occasional (7.5%) HP:0000501
17 ptosis occasional (7.5%) HP:0000508
18 retinal detachment occasional (7.5%) HP:0000541
19 iris coloboma occasional (7.5%) HP:0000612
20 ectopia lentis occasional (7.5%) HP:0001083
21 abnormality of the mitral valve occasional (7.5%) HP:0001633
22 abnormality of the pulmonary valve occasional (7.5%) HP:0001641
23 patent ductus arteriosus occasional (7.5%) HP:0001643
24 highly arched eyebrow occasional (7.5%) HP:0002553
25 intestinal malrotation occasional (7.5%) HP:0002566
26 scoliosis occasional (7.5%) HP:0002650
27 genu valgum occasional (7.5%) HP:0002857
28 cubitus valgus occasional (7.5%) HP:0002967
29 clinodactyly of the 5th finger occasional (7.5%) HP:0004209
30 single median maxillary incisor occasional (7.5%) HP:0006315
31 feeding difficulties in infancy occasional (7.5%) HP:0008872
32 aplasia/hypoplasia of the thumb occasional (7.5%) HP:0009601
33 cognitive impairment occasional (7.5%) HP:0100543
34 hypospadias rare (5%) HP:0000047
35 retinal detachment rare (5%) HP:0000541
36 phthisis bulbi rare (5%) HP:0000667
37 hypothyroidism rare (5%) HP:0000821
38 adrenal insufficiency rare (5%) HP:0000846
39 hand clenching rare (5%) HP:0001188
40 seizures rare (5%) HP:0001250
41 flexion contracture rare (5%) HP:0001371
42 umbilical hernia rare (5%) HP:0001537
43 dextrocardia rare (5%) HP:0001651
44 double outlet right ventricle rare (5%) HP:0001719
45 talipes equinovarus rare (5%) HP:0001762
46 hypoplasia of the corpus callosum rare (5%) HP:0002079
47 spastic paraparesis rare (5%) HP:0002313
48 scoliosis rare (5%) HP:0002650
49 decreased body weight rare (5%) HP:0004325
50 cryptorchidism HP:0000028
51 submucous cleft hard palate HP:0000176
52 bifid uvula HP:0000193
53 microcephaly HP:0000252
54 narrow face HP:0000275
55 long face HP:0000276
56 long philtrum HP:0000343
57 posteriorly rotated ears HP:0000358
58 sensorineural hearing impairment HP:0000407
59 prominent nasal bridge HP:0000426
60 broad nasal tip HP:0000455
61 bifid nasal tip HP:0000456
62 microcornea HP:0000482
63 glaucoma HP:0000501
64 ptosis HP:0000508
65 congenital cataract HP:0000519
66 anophthalmia HP:0000528
67 microphthalmia HP:0000568
68 visual loss HP:0000572
69 thick eyebrow HP:0000574
70 exotropia HP:0000577
71 blepharophimosis HP:0000581
72 oligodontia HP:0000677
73 delayed eruption of teeth HP:0000684
74 dental malocclusion HP:0000689
75 septate vagina HP:0001153
76 intellectual disability, mild HP:0001256
77 motor delay HP:0001270
78 ventricular septal defect HP:0001629
79 atria septal defect HP:0001631
80 mitral valve prolapse HP:0001634
81 pulmonic stenosis HP:0001642
82 patent ductus arteriosus HP:0001643
83 aortic valve stenosis HP:0001650
84 hammertoe HP:0001765
85 radioulnar synostosis HP:0002974
86 short stature HP:0004322
87 2-3 toe syndactyly HP:0004691
88 persistence of primary teeth HP:0006335
89 laterally curved eyebrow HP:0007733
90 remnants of the hyaloid vascular system HP:0007968
91 asymmetry of the ears HP:0010722
92 increased number of teeth HP:0011069
93 fused teeth 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 Syndrome25
2 Syndromic Microphthalmia 223 BCOR

Anatomical Context for Microphthalmia, Syndromic 2

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MalaCards organs/tissues related to Microphthalmia, Syndromic 2:

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:

id Symbol AA change Variation ID SNP ID

Clinvar genetic disease variations for Microphthalmia, Syndromic 2:

5 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1BCORNM_017745.5(BCOR): c.254C> T (p.Pro85Leu)single nucleotide variantPathogenicrs121434618GRCh37Chr X, 39934345: 39934345
2BCORBCOR, IVS8AS, G-T, -1single nucleotide variantPathogenic
3BCORNM_001123383.1(BCOR): c.2926C> T (p.Arg976Ter)single nucleotide variantPathogenicrs121434619GRCh37Chr 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)single nucleotide variantLikely pathogenicrs863224850GRCh37Chr X, 39922061: 39922061

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:00458929.0BCL6, BCOR

Sources for Microphthalmia, Syndromic 2

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29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet