MCID: MCR261
MIFTS: 32

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 49 11 23 65
Oculofaciocardiodental Syndrome 45 22 23 67 24
Ofcd Syndrome 45 22 23 47 67
Mcops2 45 22 23 67
Oculo-Facio-Cardio-Dental Syndrome 23 67
Microphthalmia, Cataracts, Radiculomegaly, and Septal Heart Defects 23
Microphthalmia, Cataracts, Radiculomegaly and Septal Heart Defects 67
Microphthalmia Cataracts Radiculomegaly and Septal Heart Defects 45
 
Syndromic Microphthalmia Type 2 45
Microphthalmia, Syndromic, 2 67
Microphthalmia Syndromic 2 45
Syndromic Microphthalmia 2 22
Marashi-Gorlin Syndrome 67
Anop2 45
Maa2 45

Characteristics:

HPO:

61
microphthalmia, syndromic 2:
Inheritance: x-linked dominant inheritance


Classifications:



External Ids:

OMIM49 300166
MeSH36 D008850
UMLS65 C1846265

Summaries for Microphthalmia, Syndromic 2

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UniProtKB/Swiss-Prot:67 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 aplasia/hypoplasia affecting the eye, midline defect of the nose and abnormality of the cardiac septa. 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, eye and bone.

NIH Rare Diseases:45 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:23 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:49 300166

Related Diseases for Microphthalmia, Syndromic 2

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Graphical network of diseases related to Microphthalmia, Syndromic 2:



Diseases related to microphthalmia, syndromic 2

Symptoms for Microphthalmia, Syndromic 2

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Symptoms by clinical synopsis from OMIM:

300166

Clinical features from OMIM:

300166

HPO human phenotypes related to Microphthalmia, Syndromic 2:

(show all 93)
id Description Frequency HPO Source Accession
1 aplasia/hypoplasia affecting the eye hallmark (90%) HP:0008056
2 midline defect of the nose hallmark (90%) HP:0004122
3 abnormality of the cardiac septa hallmark (90%) HP:0001671
4 delayed eruption of teeth hallmark (90%) HP:0000684
5 cataract hallmark (90%) HP:0000518
6 microcornea hallmark (90%) HP:0000482
7 reduced number of teeth typical (50%) HP:0009804
8 radioulnar synostosis typical (50%) HP:0002974
9 camptodactyly of toe typical (50%) HP:0001836
10 toe syndactyly typical (50%) HP:0001770
11 prominent nasal bridge typical (50%) HP:0000426
12 long philtrum typical (50%) HP:0000343
13 narrow face typical (50%) HP:0000275
14 cleft palate typical (50%) HP:0000175
15 cognitive impairment occasional (7.5%) HP:0100543
16 aplasia/hypoplasia of the thumb occasional (7.5%) HP:0009601
17 feeding difficulties in infancy occasional (7.5%) HP:0008872
18 single median maxillary incisor occasional (7.5%) HP:0006315
19 clinodactyly of the 5th finger occasional (7.5%) HP:0004209
20 cubitus valgus occasional (7.5%) HP:0002967
21 genu valgum occasional (7.5%) HP:0002857
22 scoliosis occasional (7.5%) HP:0002650
23 intestinal malrotation occasional (7.5%) HP:0002566
24 highly arched eyebrow occasional (7.5%) HP:0002553
25 patent ductus arteriosus occasional (7.5%) HP:0001643
26 abnormality of the pulmonary valve occasional (7.5%) HP:0001641
27 abnormality of the mitral valve occasional (7.5%) HP:0001633
28 ectopia lentis occasional (7.5%) HP:0001083
29 iris coloboma occasional (7.5%) HP:0000612
30 retinal detachment occasional (7.5%) HP:0000541
31 ptosis occasional (7.5%) HP:0000508
32 glaucoma occasional (7.5%) HP:0000501
33 sensorineural hearing impairment occasional (7.5%) HP:0000407
34 decreased body weight rare (5%) HP:0004325
35 scoliosis rare (5%) HP:0002650
36 spastic paraparesis rare (5%) HP:0002313
37 hypoplasia of the corpus callosum rare (5%) HP:0002079
38 talipes equinovarus rare (5%) HP:0001762
39 double outlet right ventricle rare (5%) HP:0001719
40 dextrocardia rare (5%) HP:0001651
41 umbilical hernia rare (5%) HP:0001537
42 flexion contracture rare (5%) HP:0001371
43 seizures rare (5%) HP:0001250
44 hand clenching rare (5%) HP:0001188
45 adrenal insufficiency rare (5%) HP:0000846
46 hypothyroidism rare (5%) HP:0000821
47 phthisis bulbi rare (5%) HP:0000667
48 retinal detachment rare (5%) HP:0000541
49 hypospadias rare (5%) HP:0000047
50 fused teeth HP:0011090
51 increased number of teeth HP:0011069
52 asymmetry of the ears HP:0010722
53 remnants of the hyaloid vascular system HP:0007968
54 laterally curved eyebrow HP:0007733
55 persistence of primary teeth HP:0006335
56 2-3 toe syndactyly HP:0004691
57 short stature HP:0004322
58 radioulnar synostosis HP:0002974
59 hammertoe HP:0001765
60 aortic valve stenosis HP:0001650
61 patent ductus arteriosus HP:0001643
62 pulmonic stenosis HP:0001642
63 mitral valve prolapse HP:0001634
64 atria septal defect HP:0001631
65 ventricular septal defect HP:0001629
66 motor delay HP:0001270
67 intellectual disability, mild HP:0001256
68 septate vagina HP:0001153
69 dental malocclusion HP:0000689
70 delayed eruption of teeth HP:0000684
71 oligodontia HP:0000677
72 blepharophimosis HP:0000581
73 exotropia HP:0000577
74 thick eyebrow HP:0000574
75 visual loss HP:0000572
76 microphthalmia HP:0000568
77 anophthalmia HP:0000528
78 congenital cataract HP:0000519
79 ptosis HP:0000508
80 glaucoma HP:0000501
81 microcornea HP:0000482
82 bifid nasal tip HP:0000456
83 broad nasal tip HP:0000455
84 prominent nasal bridge HP:0000426
85 sensorineural hearing impairment HP:0000407
86 posteriorly rotated ears HP:0000358
87 long philtrum HP:0000343
88 long face HP:0000276
89 narrow face HP:0000275
90 microcephaly HP:0000252
91 bifid uvula HP:0000193
92 submucous cleft hard palate HP:0000176
93 cryptorchidism HP:0000028

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 Syndromic Microphthalmia 222 BCOR

Anatomical Context for Microphthalmia, Syndromic 2

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MalaCards organs/tissues related to Microphthalmia, Syndromic 2:

33
Heart, Eye, Bone, Lung

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:

67
id Symbol AA change Variation ID SNP ID
1BCORp.Pro85LeuVAR_020921rs28935183

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_129265del1410deletionPathogenicGRCh37Chr X, 39912318: 39913727
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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Sources for Microphthalmia, Syndromic 2

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet