MCID: MCR261
MIFTS: 39

Microphthalmia, Syndromic 2

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

Aliases & Classifications for Microphthalmia, Syndromic 2

MalaCards integrated aliases for Microphthalmia, Syndromic 2:

Name: Microphthalmia, Syndromic 2 57 25 13 73
Oculofaciocardiodental Syndrome 57 53 25 75 29 6
Ofcd Syndrome 57 53 25 75 55
Mcops2 57 53 25 75
Microphthalmia, Cataracts, Radiculomegaly, and Septal Heart Defects 57 25
Oculo-Facio-Cardio-Dental Syndrome 25 75
Microphthalmia, Cataracts, Radiculomegaly and Septal Heart Defects 75
Microphthalmia Cataracts Radiculomegaly and Septal Heart Defects 53
Oculo Facio Cardio Dental Syndrome 76
Microphthalmia, Syndromic, Type 2 40
Syndromic Microphthalmia Type 2 53
Microphthalmia, Syndromic, 2 75
Microphthalmia Syndromic 2 53
Marashi-Gorlin Syndrome 75
Anop2, Formerly 57
Maa2, Formerly 57

Characteristics:

OMIM:

57
Inheritance:
x-linked dominant


HPO:

32
microphthalmia, syndromic 2:
Inheritance x-linked dominant inheritance


Classifications:



Summaries for Microphthalmia, Syndromic 2

UniProtKB/Swiss-Prot : 75 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 microphthalmia, syndromic 1, 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 is Signaling events mediated by HDAC Class II. Affiliated tissues include heart, eye and kidney, and related phenotypes are genu valgum and ptosis

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 : 53 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.

Wikipedia : 76 Oculofaciocardiodental syndrome is a rare X linked genetic... more...

Description from OMIM: 300166

Related Diseases for Microphthalmia, Syndromic 2

Symptoms & Phenotypes for Microphthalmia, Syndromic 2

Symptoms via clinical synopsis from OMIM:

57
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

GenitourinaryInternal GenitaliaMale:
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 Gastrointestinal:
atresia of ileum (rare)

Skeletal Hands:
clenched hands (rare)


Clinical features from OMIM:

300166

Human phenotypes related to Microphthalmia, Syndromic 2:

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

Anatomical Context for Microphthalmia, Syndromic 2

MalaCards organs/tissues related to Microphthalmia, Syndromic 2:

41
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:

75
# Symbol AA change Variation ID SNP ID
1 BCOR p.Pro85Leu VAR_020921 rs121434618

ClinVar genetic disease variations for Microphthalmia, Syndromic 2:

6
(show top 50) (show all 83)
# 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 NM_017745.5(BCOR): c.254C> T (p.Pro85Leu) single nucleotide variant Pathogenic rs121434618 GRCh38 Chromosome X, 40075092: 40075092
3 BCOR BCOR, IVS8AS, G-T, -1 single nucleotide variant Pathogenic
4 BCOR NM_001123383.1(BCOR): c.2926C> T (p.Arg976Ter) single nucleotide variant Pathogenic rs121434619 GRCh37 Chromosome X, 39931673: 39931673
5 BCOR NM_001123383.1(BCOR): c.2926C> T (p.Arg976Ter) single nucleotide variant Pathogenic rs121434619 GRCh38 Chromosome X, 40072420: 40072420
6 BCOR BCOR, 1-BP DEL, 3881A deletion Pathogenic
7 BCOR BCOR, EX9-15DEL deletion Pathogenic
8 BCOR BCOR, 2-BP DEL, 2488AG deletion Pathogenic
9 BCOR BCOR, 1-BP DEL, 3286G deletion Pathogenic
10 BCOR BCOR, 60-KB DEL deletion Pathogenic
11 BCOR NM_017745.5(BCOR): c.2613delC (p.Phe871Leufs) deletion Pathogenic rs730880013 GRCh38 Chromosome X, 40072733: 40072733
12 BCOR NM_017745.5(BCOR): c.2613delC (p.Phe871Leufs) deletion Pathogenic rs730880013 GRCh37 Chromosome X, 39931986: 39931986
13 BCOR NM_017745.5(BCOR): c.711C> T (p.Val237=) single nucleotide variant Conflicting interpretations of pathogenicity rs727503827 GRCh37 Chromosome X, 39933888: 39933888
14 BCOR NM_017745.5(BCOR): c.711C> T (p.Val237=) single nucleotide variant Conflicting interpretations of pathogenicity rs727503827 GRCh38 Chromosome X, 40074635: 40074635
15 BCOR NC_000023.11: g.(?_40051246)_(40075180_?)del deletion Pathogenic GRCh38 Chromosome X, 40051246: 40075180
16 BCOR NG_008880.1: g.127856_129265del1410 deletion Pathogenic GRCh38 Chromosome X, 40053065: 40054474
17 BCOR NG_008880.1: g.127856_129265del1410 deletion Pathogenic GRCh37 Chromosome X, 39912318: 39913727
18 BCOR NM_001123385.1(BCOR): c.4304_4308delCATGC (p.Pro1435Leufs) deletion Pathogenic rs730880034 GRCh38 Chromosome X, 40062259: 40062263
19 BCOR NM_001123385.1(BCOR): c.4304_4308delCATGC (p.Pro1435Leufs) deletion Pathogenic rs730880034 GRCh37 Chromosome X, 39921512: 39921516
20 BCOR NM_001123383.1(BCOR): c.4760dupC (p.Gly1588Argfs) duplication Pathogenic rs797044647 GRCh37 Chromosome X, 39913253: 39913253
21 BCOR NM_001123383.1(BCOR): c.4760dupC (p.Gly1588Argfs) duplication Pathogenic rs797044647 GRCh38 Chromosome X, 40054000: 40054000
22 BCOR NM_017745.5(BCOR): c.2199G> T (p.Thr733=) single nucleotide variant Conflicting interpretations of pathogenicity rs140693978 GRCh37 Chromosome X, 39932400: 39932400
23 BCOR NM_017745.5(BCOR): c.2199G> T (p.Thr733=) single nucleotide variant Conflicting interpretations of pathogenicity rs140693978 GRCh38 Chromosome X, 40073147: 40073147
24 BCOR NM_017745.5(BCOR): c.2035G> A (p.Val679Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs144722432 GRCh37 Chromosome X, 39932564: 39932564
25 BCOR NM_017745.5(BCOR): c.2035G> A (p.Val679Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs144722432 GRCh38 Chromosome X, 40073311: 40073311
26 BCOR NM_017745.5(BCOR): c.408C> T (p.Ala136=) single nucleotide variant Conflicting interpretations of pathogenicity rs139802143 GRCh38 Chromosome X, 40074938: 40074938
27 BCOR NM_017745.5(BCOR): c.408C> T (p.Ala136=) single nucleotide variant Conflicting interpretations of pathogenicity rs139802143 GRCh37 Chromosome X, 39934191: 39934191
28 BCOR NM_017745.5(BCOR): c.4009C> T (p.Gln1337Ter) single nucleotide variant Likely pathogenic rs863224850 GRCh37 Chromosome X, 39922061: 39922061
29 BCOR NM_017745.5(BCOR): c.4009C> T (p.Gln1337Ter) single nucleotide variant Likely pathogenic rs863224850 GRCh38 Chromosome X, 40062808: 40062808
30 BCOR NM_017745.5(BCOR): c.-292-?_*863+?dup duplication Uncertain significance
31 BCOR NM_017745.5(BCOR): c.3745+7G> C single nucleotide variant Benign rs142686469 GRCh38 Chromosome X, 40063601: 40063601
32 BCOR NM_017745.5(BCOR): c.3745+7G> C single nucleotide variant Benign rs142686469 GRCh37 Chromosome X, 39922854: 39922854
33 BCOR NM_001123383.1(BCOR): c.3781_3782delAG (p.Leu1262Phefs) deletion Pathogenic rs886042842 GRCh37 Chromosome X, 39922288: 39922289
34 BCOR NM_001123383.1(BCOR): c.3781_3782delAG (p.Leu1262Phefs) deletion Pathogenic rs886042842 GRCh38 Chromosome X, 40063035: 40063036
35 BCOR NM_017745.5(BCOR): c.2203A> G (p.Ile735Val) single nucleotide variant Conflicting interpretations of pathogenicity rs768557634 GRCh37 Chromosome X, 39932396: 39932396
36 BCOR NM_017745.5(BCOR): c.2203A> G (p.Ile735Val) single nucleotide variant Conflicting interpretations of pathogenicity rs768557634 GRCh38 Chromosome X, 40073143: 40073143
37 BCOR NC_000023.11: g.(?_40057155)_(40077969_?)del deletion Pathogenic GRCh37 Chromosome X, 39916408: 39937222
38 BCOR NC_000023.11: g.(?_40057155)_(40077969_?)del deletion Pathogenic GRCh38 Chromosome X, 40057155: 40077969
39 BCOR NM_017745.5(BCOR): c.2647G> A (p.Val883Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs909942650 GRCh37 Chromosome X, 39931952: 39931952
40 BCOR NM_017745.5(BCOR): c.2647G> A (p.Val883Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs909942650 GRCh38 Chromosome X, 40072699: 40072699
41 BCOR NM_017745.5(BCOR): c.4578G> A (p.Thr1526=) single nucleotide variant Benign/Likely benign rs146007249 GRCh37 Chromosome X, 39914682: 39914682
42 BCOR NM_017745.5(BCOR): c.4578G> A (p.Thr1526=) single nucleotide variant Benign/Likely benign rs146007249 GRCh38 Chromosome X, 40055429: 40055429
43 BCOR NM_001123385.1(BCOR): c.3268delG (p.Asp1090Ilefs) deletion Pathogenic GRCh38 Chromosome X, 40064570: 40064570
44 BCOR NM_001123385.1(BCOR): c.3268delG (p.Asp1090Ilefs) deletion Pathogenic GRCh37 Chromosome X, 39923823: 39923823
45 BCOR NM_017745.5(BCOR): c.4722A> C (p.Pro1574=) single nucleotide variant Benign rs760093247 GRCh37 Chromosome X, 39913291: 39913291
46 BCOR NM_017745.5(BCOR): c.4722A> C (p.Pro1574=) single nucleotide variant Benign rs760093247 GRCh38 Chromosome X, 40054038: 40054038
47 BCOR NM_017745.5(BCOR): c.2419G> C (p.Asp807His) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 39932180: 39932180
48 BCOR NM_017745.5(BCOR): c.2419G> C (p.Asp807His) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 40072927: 40072927
49 BCOR NM_001123383.1(BCOR): c.3388dup (p.Leu1130Profs) duplication Pathogenic GRCh37 Chromosome X, 39923703: 39923703
50 BCOR NM_001123383.1(BCOR): c.3388dup (p.Leu1130Profs) duplication Pathogenic GRCh38 Chromosome X, 40064450: 40064450

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
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
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62 PubMed
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69 SNOMED-CT via HPO
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