MCID: MCR261
MIFTS: 40

Microphthalmia, Syndromic 2

Categories: Genetic diseases, Rare diseases, Eye diseases, Neuronal diseases, Fetal diseases, Reproductive diseases, Ear diseases, Respiratory diseases, Mental diseases, Endocrine diseases, Cardiovascular diseases

Aliases & Classifications for Microphthalmia, Syndromic 2

MalaCards integrated aliases for Microphthalmia, Syndromic 2:

Name: Microphthalmia, Syndromic 2 53 24 13 69
Oculofaciocardiodental Syndrome 53 49 24 71 28
Ofcd Syndrome 53 49 24 71 51
Mcops2 53 49 24 71
Microphthalmia, Cataracts, Radiculomegaly, and Septal Heart Defects 53 24
Oculo-Facio-Cardio-Dental Syndrome 24 71
Microphthalmia, Cataracts, Radiculomegaly and Septal Heart Defects 71
Microphthalmia Cataracts Radiculomegaly and Septal Heart Defects 49
Oculo Facio Cardio Dental Syndrome 72
Syndromic Microphthalmia Type 2 49
Microphthalmia, Syndromic, 2 71
Microphthalmia Syndromic 2 49
Marashi-Gorlin Syndrome 71
Anop2, Formerly 53
Maa2, Formerly 53

Characteristics:

OMIM:

53
Inheritance:
x-linked dominant


HPO:

31
microphthalmia, syndromic 2:
Inheritance x-linked dominant inheritance


Classifications:



Summaries for Microphthalmia, Syndromic 2

UniProtKB/Swiss-Prot : 71 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 anophthalmos with limb anomalies and craniosynostosis, and has symptoms including seizures, genu valgum and ptosis. An important gene associated with Microphthalmia, Syndromic 2 is BCOR (BCL6 Corepressor), and among its related pathways/superpathways is Signaling events mediated by HDAC Class II. Affiliated tissues include heart, eye and kidney.

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.

NIH Rare Diseases : 49 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

Wikipedia : 72 Oculofaciocardiodental syndrome is a rare X linked genetic... more...

Description from OMIM: 300166

Related Diseases for Microphthalmia, Syndromic 2

Diseases in the Microphthalmia, Syndromic 6 family:

Microphthalmia, Syndromic 3 Microphthalmia, Syndromic 2
Microphthalmia, Syndromic 13 Microphthalmia, Syndromic 4
Microphthalmia, Syndromic 1 Microphthalmia, Syndromic 9
Microphthalmia, Syndromic 8 Microphthalmia, Syndromic 5
Microphthalmia, Syndromic 10 Microphthalmia, Syndromic 11
Microphthalmia, Syndromic 12

Diseases related to Microphthalmia, Syndromic 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 anophthalmos with limb anomalies 11.0
2 craniosynostosis 10.1
3 microphthalmia 9.9

Symptoms & Phenotypes for Microphthalmia, Syndromic 2

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
ptosis
microphthalmia
blepharophimosis
microcornea
exotropia
more
Skeletal Skull:
microcephaly

Head And Neck Mouth:
cleft palate
bifid uvula
submucous cleft palate

Cardiovascular Vascular:
patent ductus arteriosus

Cardiovascular Heart:
atrial septal defect
mitral valve prolapse
ventricular septal defect
aortic valve stenosis
pulmonary valve stenosis
more
Skeletal Limbs:
radioulnar synostosis
limited supination
flexion contractures (in some patients)

Head And Neck Ears:
posteriorly rotated ears
hearing loss, sensorineural
large anteverted ears
asymmetric ears

Genitourinary Internal Genitalia Female:
septate vagina

Skin Nails Hair Hair:
thick eyebrows
laterally curved eyebrows

Endocrine Features:
hypothyroidism (rare)
hypoadrenalism (rare)

Abdomen External Features:
umbilical hernia (rare)

Growth Weight:
low weight (in some patients)

Genitourinary Kidneys:
absent kidneys (rare)

Head And Neck Head:
microcephaly

Growth Height:
short stature

Head And Neck Face:
long philtrum
long, narrow face

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Nose:
broad nasal tip
bifid nasal tip
high nasal bridge
septate nasal cartilage

Skeletal Feet:
2-3 toe syndactyly
hammer toe (2-4 toes)
club feet (rare)

Head And Neck Teeth:
oligodontia
malocclusion
supernumerary teeth
delayed dentition
persistent primary teeth
more
Neurologic Central Nervous System:
delayed motor development
mental retardation, mild
seizures (rare)
spastic paraparesis (rare)
hypoplastic or absent optic chiasm
more
Growth Other:
growth retardation

Skeletal Spine:
scoliosis (in some patients)

Genitourinary External Genitalia Male:
hypospadias (rare)

Abdomen Gastroin testinal:
atresia of ileum (rare)

Skeletal Hands:
clenched hands (rare)


Clinical features from OMIM:

300166

Human phenotypes related to Microphthalmia, Syndromic 2:

31 (show top 50) (show all 79)
# Description HPO Frequency HPO Source Accession
1 seizures 31 occasional (7.5%) HP:0001250
2 genu valgum 31 occasional (7.5%) HP:0002857
3 ptosis 31 occasional (7.5%) HP:0000508
4 hypothyroidism 31 occasional (7.5%) HP:0000821
5 intellectual disability 31 occasional (7.5%) HP:0001249
6 scoliosis 31 occasional (7.5%) HP:0002650
7 cataract 31 hallmark (90%) HP:0000518
8 dental malocclusion 31 HP:0000689
9 global developmental delay 31 occasional (7.5%) HP:0001263
10 umbilical hernia 31 occasional (7.5%) HP:0001537
11 microcephaly 31 HP:0000252
12 sensorineural hearing impairment 31 occasional (7.5%) HP:0000407
13 thick eyebrow 31 HP:0000574
14 short stature 31 HP:0004322
15 flexion contracture 31 occasional (7.5%) HP:0001371
16 feeding difficulties in infancy 31 occasional (7.5%) HP:0008872
17 intellectual disability, mild 31 HP:0001256
18 long philtrum 31 frequent (33%) HP:0000343
19 delayed eruption of teeth 31 hallmark (90%) HP:0000684
20 patent ductus arteriosus 31 occasional (7.5%) HP:0001643
21 cryptorchidism 31 HP:0000028
22 cubitus valgus 31 occasional (7.5%) HP:0002967
23 atrial septal defect 31 HP:0001631
24 prominent nasal bridge 31 frequent (33%) HP:0000426
25 microphthalmia 31 hallmark (90%) HP:0000568
26 hypospadias 31 occasional (7.5%) HP:0000047
27 clinodactyly of the 5th finger 31 occasional (7.5%) HP:0004209
28 glaucoma 31 occasional (7.5%) HP:0000501
29 retinal detachment 31 occasional (7.5%) HP:0000541
30 visual loss 31 HP:0000572
31 narrow face 31 frequent (33%) HP:0000275
32 ectopia lentis 31 occasional (7.5%) HP:0001083
33 mitral valve prolapse 31 occasional (7.5%) HP:0001634
34 increased number of teeth 31 HP:0011069
35 broad nasal tip 31 HP:0000455
36 long face 31 HP:0000276
37 ventricular septal defect 31 HP:0001629
38 talipes equinovarus 31 occasional (7.5%) HP:0001762
39 intestinal malrotation 31 occasional (7.5%) HP:0002566
40 blepharophimosis 31 HP:0000581
41 pulmonic stenosis 31 HP:0001642
42 radioulnar synostosis 31 frequent (33%) HP:0002974
43 peripheral pulmonary artery stenosis 31 occasional (7.5%) HP:0004969
44 highly arched eyebrow 31 occasional (7.5%) HP:0002553
45 iris coloboma 31 occasional (7.5%) HP:0000612
46 microcornea 31 hallmark (90%) HP:0000482
47 decreased body weight 31 occasional (7.5%) HP:0004325
48 anophthalmia 31 HP:0000528
49 dextrocardia 31 occasional (7.5%) HP:0001651
50 motor delay 31 HP:0001270

UMLS symptoms related to Microphthalmia, Syndromic 2:


unspecified visual loss

Drugs & Therapeutics for Microphthalmia, Syndromic 2

Search Clinical Trials , NIH Clinical Center for Microphthalmia, Syndromic 2

Genetic Tests for Microphthalmia, Syndromic 2

Genetic tests related to Microphthalmia, Syndromic 2:

# Genetic test Affiliating Genes
1 Oculofaciocardiodental Syndrome 28 BCOR

Anatomical Context for Microphthalmia, Syndromic 2

MalaCards organs/tissues related to Microphthalmia, Syndromic 2:

38
Heart, Eye, Kidney

Publications for Microphthalmia, Syndromic 2

Articles related to Microphthalmia, Syndromic 2:

# Title Authors Year
1
BCOR mutations and unstoppable root growth: a commentary on oculofaciocardiodental syndrome: novel BCOR mutations and expression in dental cells. ( 24785690 )
2014
2
Oculofaciocardiodental syndrome: novel BCOR mutations and expression in dental cells. ( 24694763 )
2014
3
A family of oculofaciocardiodental syndrome (OFCD) with a novel BCOR mutation and genomic rearrangements involving NHS. ( 22301464 )
2012
4
Oculofaciocardiodental syndrome: a rare case and review of the literature. ( 21740180 )
2012
5
Oculofaciocardiodental syndrome: report of a rare case. ( 19093058 )
2008
6
Oculofaciocardiodental syndrome and orthodontics. ( 17208111 )
2007
7
Case reports of oculofaciocardiodental syndrome with unusual dental findings. ( 15957158 )
2005

Variations for Microphthalmia, Syndromic 2

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

71
# Symbol AA change Variation ID SNP ID
1 BCOR p.Pro85Leu VAR_020921 rs121434618

ClinVar genetic disease variations for Microphthalmia, Syndromic 2:

6 (show all 19)
# Gene Variation Type Significance SNP ID Assembly Location
1 BCOR NM_017745.5(BCOR): c.254C> T (p.Pro85Leu) single nucleotide variant Pathogenic rs121434618 GRCh37 Chromosome X, 39934345: 39934345
2 BCOR BCOR, IVS8AS, G-T, -1 single nucleotide variant Pathogenic
3 BCOR NM_001123383.1(BCOR): c.2926C> T (p.Arg976Ter) single nucleotide variant Pathogenic rs121434619 GRCh37 Chromosome X, 39931673: 39931673
4 BCOR BCOR, 1-BP DEL, 3881A deletion Pathogenic
5 BCOR BCOR, EX9-15DEL deletion Pathogenic
6 BCOR BCOR, 2-BP DEL, 2488AG deletion Pathogenic
7 BCOR BCOR, 1-BP DEL, 3286G deletion Pathogenic
8 BCOR BCOR, 60-KB DEL deletion Pathogenic
9 BCOR NM_017745.5(BCOR): c.2613delC (p.Phe871Leufs) deletion Pathogenic rs730880013 GRCh38 Chromosome X, 40072733: 40072733
10 BCOR NC_000023.11: g.(?_40051246)_(40075180_?)del deletion Pathogenic GRCh38 Chromosome X, 40051246: 40075180
11 BCOR NG_008880.1: g.127856_129265del1410 deletion Pathogenic GRCh38 Chromosome X, 40053065: 40054474
12 BCOR NM_001123385.1(BCOR): c.4304_4308delCATGC (p.Pro1435Leufs) deletion Pathogenic rs730880034 GRCh38 Chromosome X, 40062259: 40062263
13 BCOR NM_001123383.1(BCOR): c.4760dupC (p.Gly1588Argfs) duplication Pathogenic rs797044647 GRCh37 Chromosome X, 39913253: 39913253
14 BCOR NM_017745.5(BCOR): c.4009C> T (p.Gln1337Ter) single nucleotide variant Likely pathogenic rs863224850 GRCh37 Chromosome X, 39922061: 39922061
15 BCOR NM_001123383.1(BCOR): c.3781_3782delAG (p.Leu1262Phefs) deletion Pathogenic rs886042842 GRCh37 Chromosome X, 39922288: 39922289
16 BCOR NC_000023.11: g.(?_40057155)_(40077969_?)del deletion Pathogenic GRCh37 Chromosome X, 39916408: 39937222
17 BCOR NM_001123385.1(BCOR): c.3268delG (p.Asp1090Ilefs) deletion Pathogenic GRCh38 Chromosome X, 40064570: 40064570
18 BCOR NM_001123383.1(BCOR): c.3388dup (p.Leu1130Profs) duplication Pathogenic GRCh37 Chromosome X, 39923703: 39923703
19 BCOR NM_017745.5(BCOR): c.3410_3411delAA (p.Lys1137Serfs) deletion Pathogenic GRCh38 Chromosome X, 40064427: 40064428

Expression for Microphthalmia, Syndromic 2

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

Pathways for Microphthalmia, Syndromic 2

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

# Super pathways Score Top Affiliating Genes
1 10.15 BCL6 BCOR

GO Terms for Microphthalmia, Syndromic 2

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 8.96 BCL6 BCOR
2 negative regulation of transcription, DNA-templated GO:0045892 8.62 BCL6 BCOR

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

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 8.62 BCL6 BCOR

Sources for Microphthalmia, Syndromic 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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