MCOPS2
MCID: MCR261
MIFTS: 50

Microphthalmia, Syndromic 2 (MCOPS2)

Categories: Cardiovascular diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Oral diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Microphthalmia, Syndromic 2

MalaCards integrated aliases for Microphthalmia, Syndromic 2:

Name: Microphthalmia, Syndromic 2 57 43 13 44 70
Oculofaciocardiodental Syndrome 57 12 20 43 58 72 29 6
Ofcd Syndrome 57 12 20 43 58 72 54
Mcops2 57 12 20 43 72
Cataract-Microphthalmia-Radiculomegaly-Cardiac Septal Defect Syndrome 12 58
Microphthalmia, Cataracts, Radiculomegaly, and Septal Heart Defects 57 43
Microphthalmia Cataracts Radiculomegaly and Septal Heart Defects 12 20
Oculo-Facio-Cardio-Dental Syndrome 43 72
Syndromic Microphthalmia Type 2 12 20
Syndromic Microphthalmia 2 12 15
Microphthalmia, Cataracts, Radiculomegaly and Septal Heart Defects 72
Oculo Facio Cardio Dental Syndrome 73
Microphthalmia, Syndromic, Type 2 39
Microphthalmia, Syndromic, 2 72
Microphthalmia Syndromic 2 20
Marashi-Gorlin Syndrome 72
Anop2, Formerly 57
Maa2, Formerly 57
Anop2 12
Maa2 12

Characteristics:

Orphanet epidemiological data:

58
oculofaciocardiodental syndrome
Inheritance: X-linked dominant; Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
x-linked dominant


HPO:

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


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis
Rare odontological diseases


Summaries for Microphthalmia, Syndromic 2

MedlinePlus Genetics : 43 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.The eye abnormalities associated with OFCD syndrome can affect one or both eyes. Many people with this condition are born with eyeballs that are abnormally small (microphthalmia). Other eye problems can include clouding of the lens (cataract) and a higher risk of glaucoma, an eye disease that increases the pressure in the eye. These abnormalities can lead to vision loss or blindness.People with OFCD syndrome often have a long, narrow face with distinctive facial features, including deep-set eyes and a broad nasal tip that is divided by a cleft. Some affected people have an opening in the roof of the mouth called a cleft palate.Heart defects are another common feature of OFCD syndrome. Babies with this condition may be born with a hole between two chambers of the heart (an atrial or ventricular septal defect) or a leak in one of the valves that controls blood flow through the heart (mitral valve prolapse).Teeth with very large roots (radiculomegaly) are characteristic of OFCD syndrome. Additional dental abnormalities can include delayed loss of primary (baby) teeth, missing or abnormally small teeth, misaligned teeth, and defective tooth enamel.

MalaCards based summary : Microphthalmia, Syndromic 2, also known as oculofaciocardiodental syndrome, is related to microphthalmia, syndromic 1 and microphthalmia, and has symptoms including unspecified visual loss An important gene associated with Microphthalmia, Syndromic 2 is BCOR (BCL6 Corepressor), and among its related pathways/superpathways are Pathways Affected in Adenoid Cystic Carcinoma and Signaling events mediated by HDAC Class II. Affiliated tissues include eye and heart, and related phenotypes are cataract and delayed eruption of teeth

Disease Ontology : 12 A syndromic microphthalmia characterized by dental radiculomegaly, congenital cataract, microphthalmia, facial dismorphism and congenital heart disease that has material basis in heterozygous mutation in BCOR on chromosome Xp11.4.

GARD : 20 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.

UniProtKB/Swiss-Prot : 72 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.

Wikipedia : 73 Oculofaciocardiodental syndrome is a rare X-linked dominant genetic... more...

More information from OMIM: 300166 PS309800

Related Diseases for Microphthalmia, Syndromic 2

Diseases in the Syndromic Microphthalmia family:

Microphthalmia, Syndromic 3 Microphthalmia, Syndromic 2
Microphthalmia, Syndromic 13 Microphthalmia, Syndromic 1
Microphthalmia, Syndromic 9 Microphthalmia, Syndromic 8
Microphthalmia, Syndromic 6 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:

(show top 50) (show all 65)
# Related Disease Score Top Affiliating Genes
1 microphthalmia, syndromic 1 29.6 PCGF1 KDM2B HCCS H2AC18 BCOR
2 microphthalmia 29.1 PITX2 HCCS CRYBA4 CRYAA BCOR BCL6
3 anophthalmos with limb anomalies 11.0
4 heart septal defect 10.3
5 atrial heart septal defect 10.3
6 intraocular retinoblastoma 10.3 CRYAA BCOR
7 muscular dystrophy, duchenne type 10.2
8 fryns microphthalmia syndrome 10.2
9 yemenite deaf-blind hypopigmentation syndrome 10.2
10 branchiootic syndrome 1 10.2
11 squamous cell papilloma 10.2
12 dental caries 10.2
13 craniosynostosis 10.2
14 papilloma 10.2
15 hypertrichosis 10.2
16 rubella 10.2
17 muscular dystrophy 10.2
18 dystrophinopathies 10.2
19 bifid nose 10.2
20 gigantism 10.2
21 hypotonia 10.2
22 myxoid leiomyosarcoma 10.2 ZC3H7B BCOR
23 ventricular septal defect 10.2
24 immunodeficiency with hyper-igm, type 2 10.2 H2AC18 BCL6
25 cataract 10.2
26 acquired pure red cell aplasia 10.2 BCORL1 BCOR
27 ossifying fibromyxoid tumor 10.1 ZC3H7B MAML3
28 early-onset lamellar cataract 10.1 CRYBA4 CRYAA
29 retinal perforation 10.1 CRYBA4 CRYAA
30 abruzzo-erickson syndrome 10.1 CRYBA4 CRYAA
31 hair whorl 10.1
32 ptosis 10.1
33 sensorineural hearing loss 10.1
34 lens disease 10.0 H2AC18 CRYBA4 CRYAA
35 pure red-cell aplasia 10.0 BCORL1 BCOR
36 lens subluxation 10.0 CRYBA4 CRYAA
37 cleft palate, isolated 9.9
38 chromosome 2q35 duplication syndrome 9.9
39 nance-horan syndrome 9.9
40 tooth agenesis 9.9
41 ankylosis 9.9
42 kidney clear cell sarcoma 9.9 ZC3H7B PCGF1 MAML3 BCOR
43 otodental dysplasia 9.9
44 conotruncal heart malformations 9.9
45 ornithine transcarbamylase deficiency, hyperammonemia due to 9.9
46 phace association 9.9
47 patent ductus arteriosus 1 9.9
48 alacrima, achalasia, and mental retardation syndrome 9.9
49 clubfoot 9.9
50 hemangioma 9.9

Graphical network of the top 20 diseases related to Microphthalmia, Syndromic 2:



Diseases related to Microphthalmia, Syndromic 2

Symptoms & Phenotypes for Microphthalmia, Syndromic 2

Human phenotypes related to Microphthalmia, Syndromic 2:

58 31 (show top 50) (show all 93)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cataract 58 31 hallmark (90%) Very frequent (99-80%) HP:0000518
2 delayed eruption of teeth 58 31 very rare (1%) Very frequent (99-80%) HP:0000684
3 microphthalmia 58 31 very rare (1%) Very frequent (99-80%) HP:0000568
4 abnormal cardiac septum morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0001671
5 microcornea 58 31 hallmark (90%) Very frequent (99-80%) HP:0000482
6 bifid nasal tip 58 31 hallmark (90%) Very frequent (99-80%) HP:0000456
7 narrow face 58 31 frequent (33%) Frequent (79-30%) HP:0000275
8 long philtrum 58 31 very rare (1%) Frequent (79-30%) HP:0000343
9 prominent nasal bridge 58 31 very rare (1%) Frequent (79-30%) HP:0000426
10 radioulnar synostosis 58 31 frequent (33%) Frequent (79-30%) HP:0002974
11 misalignment of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000692
12 hammertoe 58 31 very rare (1%) Frequent (79-30%) HP:0001765
13 broad palm 58 31 frequent (33%) Frequent (79-30%) HP:0001169
14 submucous cleft hard palate 58 31 very rare (1%) Frequent (79-30%) HP:0000176
15 oligodontia 58 31 very rare (1%) Frequent (79-30%) HP:0000677
16 2-3 toe syndactyly 58 31 very rare (1%) Frequent (79-30%) HP:0004691
17 flexion contracture of the 2nd toe 58 31 frequent (33%) Frequent (79-30%) HP:0010327
18 flexion contracture of the 4th toe 58 31 frequent (33%) Frequent (79-30%) HP:0010339
19 fused teeth 58 31 frequent (33%) Frequent (79-30%) HP:0011090
20 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
21 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
22 ptosis 58 31 very rare (1%) Occasional (29-5%) HP:0000508
23 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
24 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407
25 feeding difficulties in infancy 58 31 occasional (7.5%) Occasional (29-5%) HP:0008872
26 genu valgum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002857
27 cubitus valgus 58 31 occasional (7.5%) Occasional (29-5%) HP:0002967
28 mitral valve prolapse 58 31 occasional (7.5%) Occasional (29-5%) HP:0001634
29 ectopia lentis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001083
30 glaucoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000501
31 retinal detachment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000541
32 clinodactyly of the 5th finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0004209
33 iris coloboma 58 31 very rare (1%) Occasional (29-5%) HP:0000612
34 patent ductus arteriosus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001643
35 highly arched eyebrow 58 31 occasional (7.5%) Occasional (29-5%) HP:0002553
36 intestinal malrotation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002566
37 peripheral pulmonary artery stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004969
38 short thumb 58 31 occasional (7.5%) Occasional (29-5%) HP:0009778
39 single median maxillary incisor 58 31 occasional (7.5%) Occasional (29-5%) HP:0006315
40 hypothyroidism 31 occasional (7.5%) HP:0000821
41 umbilical hernia 31 occasional (7.5%) HP:0001537
42 flexion contracture 31 occasional (7.5%) HP:0001371
43 talipes equinovarus 31 occasional (7.5%) HP:0001762
44 hypospadias 31 occasional (7.5%) HP:0000047
45 decreased body weight 31 occasional (7.5%) HP:0004325
46 dextrocardia 31 occasional (7.5%) HP:0001651
47 phthisis bulbi 31 occasional (7.5%) HP:0000667
48 spastic paraparesis 31 occasional (7.5%) HP:0002313
49 hand clenching 31 occasional (7.5%) HP:0001188
50 adrenal insufficiency 31 occasional (7.5%) HP:0000846

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 Heart:
atrial septal defect
mitral valve prolapse
ventricular septal defect
aortic valve stenosis
pulmonary valve stenosis
more
Head And Neck Face:
long philtrum
long, narrow face

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

Head And Neck Teeth:
oligodontia
fused teeth
malocclusion
supernumerary teeth
delayed dentition
more
Skeletal Feet:
2-3 toe syndactyly
hammer toe (2-4 toes)
club feet (rare)

Neurologic Central Nervous System:
delayed motor development
mental retardation, mild
seizures (rare)
spastic paraparesis (rare)
hypoplastic or absent optic chiasm
more
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

Genitourinary Internal Genitalia Male:
cryptorchidism

Cardiovascular Vascular:
patent ductus arteriosus

Skeletal Limbs:
radioulnar synostosis
limited supination
flexion contractures (in some patients)

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

Genitourinary Internal Genitalia Female:
septate vagina

Growth Other:
growth retardation

Skin Nails Hair Hair:
thick eyebrows
laterally curved eyebrows

Skeletal Spine:
scoliosis (in some patients)

Genitourinary External Genitalia Male:
hypospadias (rare)

Abdomen Gastrointestinal:
atresia of ileum (rare)

Skeletal Hands:
clenched hands (rare)

Clinical features from OMIM®:

300166 (Updated 05-Apr-2021)

UMLS symptoms related to Microphthalmia, Syndromic 2:


unspecified visual loss

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

26 (show all 19)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.62 BCORL1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.62 BCORL1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.62 BCORL1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.62 CRYAA
5 Increased shRNA abundance (Z-score > 2) GR00366-A-135 9.62 BCORL1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-148 9.62 CRYAA
7 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.62 HCCS
8 Increased shRNA abundance (Z-score > 2) GR00366-A-156 9.62 BCORL1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-200 9.62 CRYAA
10 Increased shRNA abundance (Z-score > 2) GR00366-A-204 9.62 CRYAA
11 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.62 BCORL1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-212 9.62 BCORL1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.62 HCCS
14 Increased shRNA abundance (Z-score > 2) GR00366-A-216 9.62 BCORL1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-53 9.62 BCORL1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-58 9.62 BCORL1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-68 9.62 HCCS
18 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.62 CRYAA H2AC18
19 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.62 H2AC18

MGI Mouse Phenotypes related to Microphthalmia, Syndromic 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.23 BCOR HCCS KDM2B MAML3 MLLT3 PCGF1

Drugs & Therapeutics for Microphthalmia, Syndromic 2

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

Cochrane evidence based reviews: microphthalmia, syndromic 2

Genetic Tests for Microphthalmia, Syndromic 2

Genetic tests related to Microphthalmia, Syndromic 2:

# Genetic test Affiliating Genes
1 Oculofaciocardiodental Syndrome 29 BCOR

Anatomical Context for Microphthalmia, Syndromic 2

MalaCards organs/tissues related to Microphthalmia, Syndromic 2:

40
Eye, Heart

Publications for Microphthalmia, Syndromic 2

Articles related to Microphthalmia, Syndromic 2:

(show all 47)
# Title Authors PMID Year
1
BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects. 57 6 54
19367324 2009
2
Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome. 54 6 57
15770227 2005
3
Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR. 57 6 61
15004558 2004
4
Prenatal diagnosis of X-linked recessive Lenz microphthalmia syndrome. 57 6
23815237 2013
5
Oculo-facio-cardio-dental syndrome in a mother and daughter. 57 6
16829040 2006
6
Oculofaciocardiodental syndrome: a rare case and review of the literature. 61 6
21740180 2012
7
Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determination. 54 57
17517692 2007
8
Case reports of oculofaciocardiodental syndrome with unusual dental findings. 57 61
15957158 2005
9
Ocular findings in a patient with oculofaciocardiodental (OFCD) syndrome and a novel BCOR pathogenic variant. 6
29058245 2018
10
Oculo-facio-cardio-dental syndrome with craniosynostosis, temporal hypertrichosis, and deafness. 6
28317252 2017
11
Oculo-facio-cardio-dental (OFCD) syndrome: the first Italian case of BCOR and co-occurring OTC gene deletion. 6
25620158 2015
12
Oculo-facio-cardio-dental syndrome in three succeeding generations: genotypic data and phenotypic features. 6
22983184 2012
13
Microphthalmia and synostotic frontal plagiocephaly: a rare clinical entity with implications for craniofacial reconstruction. 57
15988238 2005
14
Bilateral anophthalmia and esophageal atresia: report of a new patient and review of the literature. 57
15389708 2005
15
Oculo-facio-cardio-dental syndrome: skewed X chromosome inactivation in mother and daughter suggest X-linked dominant Inheritance. 57
14608648 2003
16
A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of microcornea, rod-cone dystrophy, cataract, and posterior staphyloma. 57
12543751 2003
17
Genetic heterogeneity of syndromic X-linked recessive microphthalmia-anophthalmia: is Lenz microphthalmia a single disorder? 57
12116202 2002
18
Rare dental abnormalities seen in oculo-facio-cardio-dental (OFCD) syndrome: three new cases and review of nine patients. 57
10069716 1999
19
Oculo-facio-cardio-dental (OFCD) syndrome. 57
9220201 1997
20
Oculo-facio-cardio-dental (OFCD) syndrome. 57
8723122 1996
21
Cataracts, radiculomegaly, septal heart defects and hearing loss in two unrelated adult females with normal intelligence and similar facial appearance: confirmation of a syndrome? 57
8723559 1996
22
Congenital cataract, microphthalmia and septal heart defect in two generations: a new syndrome? 57
8281271 1993
23
Radiculomegaly of canine teeth and congenital cataracts: confirmation of a syndrome. 57
1308358 1992
24
Radiculomegaly of canines and congenital cataracts--a syndrome? 57
2263345 1990
25
Cuspid gigantism. 57
6930070 1980
26
Linkage studies in Lenz microphthalmia. 57
1225823 1975
27
Heredofamilial bilateral anophthalmia. 57
13963827 1963
28
Polycomb group and SCF ubiquitin ligases are found in a novel BCOR complex that is recruited to BCL6 targets. 61 54
16943429 2006
29
OFCD syndrome and extraembryonic defects are revealed by conditional mutation of the Polycomb-group repressive complex 1.1 (PRC1.1) gene BCOR. 61
32692983 2020
30
A Rare Case of Oculofaciocardiodental Syndrome. 61
31979724 2020
31
A Rare Case of Nonsyndromic Generalized Radiculomegaly with a Literature Review. 61
32274220 2020
32
Radiculomegaly of canines in oculofaciocardiodental syndrome. 61
30484210 2019
33
New radiological findings and radiculomegaly in oculofaciocardiodental syndrome with a novel BCOR mutation: A case report. 61
30544426 2018
34
Main genetic entities associated with supernumerary teeth. 61
30457727 2018
35
Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis. 61
30046887 2018
36
Syndromes with supernumerary teeth. 61
27250821 2016
37
Identification of nuclear localization signals within the human BCOR protein. 61
26054978 2015
38
Oculofaciocardiodental syndrome: novel BCOR mutations and expression in dental cells. 61
26108280 2015
39
BCOR mutations and unstoppable root growth: a commentary on oculofaciocardiodental syndrome: novel BCOR mutations and expression in dental cells. 61
24785690 2014
40
Oculofaciocardiodental syndrome: novel BCOR mutations and expression in dental cells. 61
24694763 2014
41
Genome-wide association studies of pit-and-fissure- and smooth-surface caries in permanent dentition. 61
23470693 2013
42
A family of oculofaciocardiodental syndrome (OFCD) with a novel BCOR mutation and genomic rearrangements involving NHS. 61
22301464 2012
43
Eye development genes and known syndromes. 61
22005280 2011
44
Function analysis of mesenchymal Bcor in tooth development by using RNA interference. 61
20563598 2010
45
Oculofaciocardiodental syndrome: report of a rare case. 61
19093058 2008
46
Characterization of Bcor expression in mouse development. 61
17344103 2007
47
Oculofaciocardiodental syndrome and orthodontics. 61
17208111 2007

Variations for Microphthalmia, Syndromic 2

ClinVar genetic disease variations for Microphthalmia, Syndromic 2:

6 (show top 50) (show all 129)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BCOR NM_001123385.2(BCOR):c.4174-1G>T SNV Pathogenic 10912 rs1569146193 GRCh37: X:39921647-39921647
GRCh38: X:40062394-40062394
2 BCOR NM_001123385.2(BCOR):c.2926C>T (p.Arg976Ter) SNV Pathogenic 10913 rs121434619 GRCh37: X:39931673-39931673
GRCh38: X:40072420-40072420
3 BCOR NM_001123385.2(BCOR):c.3983del (p.Gln1328fs) Deletion Pathogenic 10914 rs1602124517 GRCh37: X:39922189-39922189
GRCh38: X:40062936-40062936
4 BCOR BCOR, EX9-15DEL Deletion Pathogenic 10915 GRCh37:
GRCh38:
5 BCOR NM_001123385.2(BCOR):c.3286del (p.Glu1096fs) Deletion Pathogenic 10917 rs1602131169 GRCh37: X:39923805-39923805
GRCh38: X:40064552-40064552
6 BCOR BCOR, 60-KB DEL Deletion Pathogenic 10918 GRCh37:
GRCh38:
7 BCOR NM_001123385.2(BCOR):c.2613del (p.Phe871fs) Deletion Pathogenic 10919 rs730880013 GRCh37: X:39931986-39931986
GRCh38: X:40072733-40072733
8 BCOR NC_000023.11:g.(?_40051246)_(40075180_?)del Deletion Pathogenic 180243 GRCh37:
GRCh38: X:40051246-40075180
9 BCOR NM_001123385.2(BCOR):c.4742-141_4977-665del Deletion Pathogenic 180244 GRCh37: X:39912318-39913727
GRCh38: X:40053065-40054474
10 BCOR NM_001123385.2(BCOR):c.4304_4308del (p.Pro1435fs) Deletion Pathogenic 180245 rs730880034 GRCh37: X:39921512-39921516
GRCh38: X:40062259-40062263
11 BCOR NC_000023.11:g.(?_40057155)_(40077969_?)del Deletion Pathogenic 417570 GRCh37: X:39916408-39937222
GRCh38: X:40057155-40077969
12 BCOR NM_001123385.2(BCOR):c.3268del (p.Asp1090fs) Deletion Pathogenic 438284 rs1555915854 GRCh37: X:39923823-39923823
GRCh38: X:40064570-40064570
13 BCOR NM_001123385.2(BCOR):c.3388dup (p.Leu1130fs) Duplication Pathogenic 465158 rs1555915785 GRCh37: X:39923702-39923703
GRCh38: X:40064449-40064450
14 BCOR NM_001123385.2(BCOR):c.3410_3411del (p.Lys1137fs) Deletion Pathogenic 465159 rs1555915763 GRCh37: X:39923680-39923681
GRCh38: X:40064427-40064428
15 BCOR NM_001123385.2(BCOR):c.3244dup (p.Tyr1082fs) Duplication Pathogenic 639148 rs1602131405 GRCh37: X:39923846-39923847
GRCh38: X:40064593-40064594
16 BCOR NM_001123385.2(BCOR):c.3467del (p.Pro1156fs) Deletion Pathogenic 642113 rs1602130188 GRCh37: X:39923624-39923624
GRCh38: X:40064371-40064371
17 BCOR NC_000023.11:g.(?_40052089)_(40077949_?)del Deletion Pathogenic 643718 GRCh37: X:39911342-39937202
GRCh38: X:40052089-40077949
18 BCOR NM_001123385.2(BCOR):c.3463del (p.Asp1155fs) Deletion Pathogenic 644876 rs1602130230 GRCh37: X:39923628-39923628
GRCh38: X:40064375-40064375
19 BCOR NM_001123385.2(BCOR):c.2858_2859del (p.Lys953fs) Deletion Pathogenic 657302 rs1602147278 GRCh37: X:39931740-39931741
GRCh38: X:40072487-40072488
20 BCOR NC_000023.11:g.(?_40070953)_(40077949_?)dup Duplication Pathogenic 833394 GRCh37: X:39930206-39937202
GRCh38:
21 BCOR NM_001123385.2(BCOR):c.982del (p.Asp328fs) Deletion Pathogenic 850635 GRCh37: X:39933617-39933617
GRCh38: X:40074364-40074364
22 BCOR NM_001123385.2(BCOR):c.2514del (p.Lys839fs) Deletion Pathogenic 852389 GRCh37: X:39932085-39932085
GRCh38: X:40072832-40072832
23 BCOR NM_001123385.2(BCOR):c.786_790dup (p.Pro264fs) Duplication Pathogenic 858540 GRCh37: X:39933808-39933809
GRCh38: X:40074555-40074556
24 BCOR NM_001123385.2(BCOR):c.3487C>T (p.Arg1163Ter) SNV Pathogenic 954289 GRCh37: X:39923604-39923604
GRCh38: X:40064351-40064351
25 BCOR NM_001123385.2(BCOR):c.4711del (p.His1571fs) Deletion Pathogenic 954715 GRCh37: X:39914651-39914651
GRCh38: X:40055398-40055398
26 BCOR NM_001123385.2(BCOR):c.4540C>T (p.Arg1514Ter) SNV Pathogenic 958549 GRCh37: X:39916463-39916463
GRCh38: X:40057210-40057210
27 BCOR NM_001123385.2(BCOR):c.5042G>A (p.Arg1681His) SNV Pathogenic 976181 GRCh37: X:39911588-39911588
GRCh38: X:40052335-40052335
28 BCOR NM_001123385.2(BCOR):c.2484_2485AG[2] (p.Ser830fs) Microsatellite Pathogenic 448990 rs1555918014 GRCh37: X:39932110-39932111
GRCh38: X:40072857-40072858
29 BCOR NM_001123385.2(BCOR):c.254C>T (p.Pro85Leu) SNV Pathogenic 10911 rs121434618 GRCh37: X:39934345-39934345
GRCh38: X:40075092-40075092
30 BCOR NM_001123385.2(BCOR):c.2449del (p.Thr817fs) Deletion Likely pathogenic 828123 rs1602148660 GRCh37: X:39932150-39932150
GRCh38: X:40072897-40072897
31 BCOR NC_000023.11:g.(?_40052108)_(40077930_?)del Deletion Likely pathogenic 623154 GRCh37:
GRCh38: X:40052108-40077930
32 BCOR NM_001123385.2(BCOR):c.3437_3445del (p.Glu1146_Thr1148del) Deletion Likely pathogenic 522683 rs1555915744 GRCh37: X:39923646-39923654
GRCh38: X:40064393-40064401
33 BCOR NM_001123385.2(BCOR):c.4111C>T (p.Gln1371Ter) SNV Likely pathogenic 216894 rs863224850 GRCh37: X:39922061-39922061
GRCh38: X:40062808-40062808
34 BCOR NM_001123385.2(BCOR):c.1260_1261inv (p.Gly421Ser) Inversion Uncertain significance 465152 GRCh37: X:39933338-39933339
GRCh38: X:40074085-40074086
35 BCOR NM_001123385.2(BCOR):c.2954A>T (p.Tyr985Phe) SNV Uncertain significance 133679 rs587778093 GRCh37: X:39931645-39931645
GRCh38: X:40072392-40072392
36 BCOR NM_017745.5(BCOR):c.-292-?_*863+?dup Duplication Uncertain significance 241185 GRCh37:
GRCh38:
37 BCOR NM_001123385.2(BCOR):c.1232G>A (p.Arg411Gln) SNV Uncertain significance 533715 rs754579483 GRCh37: X:39933367-39933367
GRCh38: X:40074114-40074114
38 BCOR NM_001123385.2(BCOR):c.2203A>G (p.Ile735Val) SNV Uncertain significance 377338 rs768557634 GRCh37: X:39932396-39932396
GRCh38: X:40073143-40073143
39 BCOR NM_001123385.2(BCOR):c.479T>C (p.Val160Ala) SNV Uncertain significance 533716 rs1459702445 GRCh37: X:39934120-39934120
GRCh38: X:40074867-40074867
40 BCOR NM_001123385.2(BCOR):c.3339C>T (p.Ser1113=) SNV Uncertain significance 533717 rs1226506629 GRCh37: X:39923752-39923752
GRCh38: X:40064499-40064499
41 BCOR NM_001123385.2(BCOR):c.1780G>A (p.Val594Ile) SNV Uncertain significance 465153 rs764515953 GRCh37: X:39932819-39932819
GRCh38: X:40073566-40073566
42 BCOR NM_001123385.2(BCOR):c.2419G>C (p.Asp807His) SNV Uncertain significance 465156 rs1555918075 GRCh37: X:39932180-39932180
GRCh38: X:40072927-40072927
43 BCOR NM_001123385.2(BCOR):c.599C>T (p.Thr200Met) SNV Uncertain significance 582349 rs777945715 GRCh37: X:39934000-39934000
GRCh38: X:40074747-40074747
44 BCOR NM_001123385.2(BCOR):c.4319C>T (p.Pro1440Leu) SNV Uncertain significance 579723 rs1033092772 GRCh37: X:39921501-39921501
GRCh38: X:40062248-40062248
45 BCOR NM_001123385.2(BCOR):c.520G>A (p.Asp174Asn) SNV Uncertain significance 579931 rs933611569 GRCh37: X:39934079-39934079
GRCh38: X:40074826-40074826
46 BCOR NM_001123385.2(BCOR):c.2166G>C (p.Leu722Phe) SNV Uncertain significance 465155 rs1041380012 GRCh37: X:39932433-39932433
GRCh38: X:40073180-40073180
47 BCOR NM_001123385.2(BCOR):c.2560G>A (p.Ala854Thr) SNV Uncertain significance 569361 rs527732438 GRCh37: X:39932039-39932039
GRCh38: X:40072786-40072786
48 BCOR NM_001123385.2(BCOR):c.4013A>G (p.Glu1338Gly) SNV Uncertain significance 663238 rs770784599 GRCh37: X:39922159-39922159
GRCh38: X:40062906-40062906
49 BCOR NM_001123385.2(BCOR):c.1723A>G (p.Asn575Asp) SNV Uncertain significance 665498 rs1602151728 GRCh37: X:39932876-39932876
GRCh38: X:40073623-40073623
50 BCOR NM_001123385.2(BCOR):c.2520C>G (p.Pro840=) SNV Uncertain significance 644939 rs781016038 GRCh37: X:39932079-39932079
GRCh38: X:40072826-40072826

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

72
# Symbol AA change Variation ID SNP ID
1 BCOR p.Pro85Leu VAR_020921 rs121434618

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 10.62 MAML3 BCORL1 BCOR
2 10.49 BCOR BCL6

GO Terms for Microphthalmia, Syndromic 2

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

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.03 ZC3H7B RNF2 PITX2 PCGF1 MLLT3 MAML3
2 nucleoplasm GO:0005654 9.65 RNF2 PITX2 PCGF1 MLLT3 MAML3 KDM2B
3 PRC1 complex GO:0035102 9.16 RNF2 PCGF1
4 PcG protein complex GO:0031519 8.8 RNF2 PCGF1 KDM2B

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 9.43 RNF2 PITX2 PCGF1 KDM2B BCOR BCL6
2 odontogenesis GO:0042476 9.26 PITX2 BCOR
3 histone H2A-K119 monoubiquitination GO:0036353 9.16 RNF2 PCGF1
4 histone H2A monoubiquitination GO:0035518 8.92 RNF2 PCGF1 KDM2B BCOR

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

# Name GO ID Score Top Affiliating Genes
1 structural constituent of eye lens GO:0005212 8.62 CRYBA4 CRYAA

Sources for Microphthalmia, Syndromic 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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