MAA2
MCID: OCL014
MIFTS: 44

Oculofaciocardiodental Syndrome (MAA2) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Fetal diseases, Oral diseases, Cardiovascular diseases categories
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Summaries for Oculofaciocardiodental Syndrome

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NIH Rare Diseases:42 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

MalaCards based summary: Oculofaciocardiodental Syndrome, also known as ofcd syndrome, is related to microphthalmia and lenz microphthalmia syndrome, and has symptoms including anophthalmos/anophthalmia/microphthalmos/microphthalmia, x-linked recessive inheritance and microcephaly. An important gene associated with Oculofaciocardiodental Syndrome is BCOR (BCL6 corepressor). Affiliated tissues include heart, eye and testes.

Genetics Home Reference:21 Lenz microphthalmia syndrome is a condition characterized by abnormal development of the eyes and several other parts of the body. It occurs almost exclusively in males.

Wikipedia:65 Oculofaciocardiodental syndrome is a rare X linked genetic disorder. more...

Descriptions from OMIM:46 300166,309800

Aliases & Classifications for Oculofaciocardiodental Syndrome

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Sources:
42NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 48Orphanet, 62UMLS, 44Novoseek, 20GeneTests, 46OMIM, 26ICD10 via Orphanet, 63UMLS via Orphanet, 35MESH via Orphanet
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Oculofaciocardiodental Syndrome, Aliases & Descriptions:

Name: Oculofaciocardiodental Syndrome 42 22 21 48 62
Ofcd Syndrome 42 21 44 48
Microphthalmia, Syndromic 2 21 46 62
Oculo-Facio-Cardio-Dental Syndrome 21 62
Syndromic Microphthalmia Type 2 42 20
Microphthalmia Syndromic 2 42 62
Mcops2 42 21
 
Microphthalmia, Cataracts, Radiculomegaly, and Septal Heart Defects 21
Microphthalmia Cataracts Radiculomegaly and Septal Heart Defects 42
Cataract - Microphthalmia - Radiculomegaly - Septal Heart Defect 48
Microphthalmia, Lenz Type 48
Lenz Microphthalmia 48
Anop2 42
Maa2 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
microphthalmia, lenz type:
Inheritance: X-linked recessive; Age of onset: Neonatal/infancy
oculofaciocardiodental syndrome:
Inheritance: X-linked dominant; Age of onset: Neonatal/infancy


External Ids:

ICD10 via Orphanet26 Q11.2, Q87.8
UMLS via Orphanet63 C0796016, C1846265, C2931601
MESH via Orphanet35 C537465, C537735

Related Diseases for Oculofaciocardiodental Syndrome

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Diseases related to Oculofaciocardiodental Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1microphthalmia10.5
2lenz microphthalmia syndrome10.5
3bcor-related lenz microphthalmia syndrome10.4
4townes-brocks syndrome10.2
5mental retardation10.2
6radiculomegaly of canine teeth- congenital cataract10.1
7otodental syndrome10.1

Graphical network of diseases related to Oculofaciocardiodental Syndrome:



Diseases related to oculofaciocardiodental syndrome

Symptoms for Oculofaciocardiodental Syndrome

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Symptoms by clinical synopsis from OMIM:

300166

Clinical features from OMIM:

300166,309800

Symptoms:

48 (show all 71)
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • x-linked recessive inheritance
  • microcephaly
  • glaucoma
  • coloboma of iris
  • microcornea
  • retinoschisis/retinal/chorioretinal coloboma
  • coloboma of the optic nerve
  • cleft lip and palate
  • tooth shape anomaly
  • abnormal dentition/dental position/implantation/unerupted/dental ankylosis
  • external ear anomalies
  • low set ears/posteriorly rotated ears
  • syndactyly of fingers/interdigital palm
  • camptodactyly of fingers
  • clinodactyly of fifth finger
  • thumb duplication/distal bifid thumb phalangeal bone
  • agenesis/hypoplasia/aplasia of kidneys
  • ureterocele/cystic dilation/dilatation of the ureter/ureterovasical stenosis
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • hypospadias/epispadias/bent penis
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • short stature/dwarfism/nanism
  • cataract/lens opacification
  • visual loss/blindness/amblyopia
  • nystagmus
  • cryptophthalmia/ankyloblepharon/synblepharon
  • delayed dentition/eruption of teeth/lack of eruption of teeth
  • preauricular/branchial tags/appendages
  • hearing loss/hypoacusia/deafness
  • webbed neck/pterygium colli
  • clavicle absent/abnormal
  • narrow/sloping shoulders
  • long rib cage/thorax
  • kyphosis
  • lordosis
  • scoliosis
  • congenital cardiac anomaly/malformation/cardiopathy
  • corpus callosum/septum pellucidum total/partial agenesis
  • seizures/epilepsy/absences/spasms/status epilepticus
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • auto-aggressivity/auto-mutilation
  • bifid tip/cleft nose/supernumerary nose
  • anomalies of teeth and dentition
  • cardiac septal defect
  • x-linked dominant inheritance
  • narrow face
  • high nasal bridge
  • long philtrum
  • high vaulted/narrow palate
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • anodontia/oligodontia/hypodontia
  • radioulnar synostosis
  • flexion deformity of toes (excluding big toe)/hammer toe/camptodactyly of toes
  • syndactyly of toes
  • lens dislocation/luxation/subluxation/ectopia lentis
  • retinal detachment
  • high arched eyebrows
  • ptosis
  • solitary median incisor
  • anomalies of ear and hearing
  • sensorineural deafness/hearing loss
  • cubitus valgus
  • thumb hypoplasia/aplasia/absence
  • genu valgum
  • intestinal/gut/bowel malrotation
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • mitral valve prolapse/incompetence/insufficiency/regurgitation/ring anomaly
  • pulmonary valve atresia/stenosis/narrowing
  • patent ductus arteriosus

HPO human phenotypes related to Oculofaciocardiodental Syndrome:

(show all 108)
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 aplasia/hypoplasia affecting the eye hallmark (90%) HP:0008056
8 cleft palate typical (50%) HP:0000175
9 narrow face typical (50%) HP:0000275
10 long philtrum typical (50%) HP:0000343
11 prominent nasal bridge typical (50%) HP:0000426
12 toe syndactyly typical (50%) HP:0001770
13 camptodactyly of toe typical (50%) HP:0001836
14 radioulnar synostosis typical (50%) HP:0002974
15 reduced number of teeth typical (50%) HP:0009804
16 cryptorchidism typical (50%) HP:0000028
17 abnormality of the ureter typical (50%) HP:0000069
18 oral cleft typical (50%) HP:0000202
19 microcephaly typical (50%) HP:0000252
20 low-set, posteriorly rotated ears typical (50%) HP:0000368
21 microcornea typical (50%) HP:0000482
22 glaucoma typical (50%) HP:0000501
23 chorioretinal coloboma typical (50%) HP:0000567
24 optic nerve coloboma typical (50%) HP:0000588
25 iris coloboma typical (50%) HP:0000612
26 preaxial hand polydactyly typical (50%) HP:0001177
27 clinodactyly of the 5th finger typical (50%) HP:0004209
28 short stature typical (50%) HP:0004322
29 finger syndactyly typical (50%) HP:0006101
30 abnormality of dental morphology typical (50%) HP:0006482
31 external ear malformation typical (50%) HP:0008572
32 renal hypoplasia/aplasia typical (50%) HP:0008678
33 camptodactyly of finger typical (50%) HP:0100490
34 cognitive impairment typical (50%) HP:0100543
35 displacement of the external urethral meatus typical (50%) HP:0100627
36 sensorineural hearing impairment occasional (7.5%) HP:0000407
37 glaucoma occasional (7.5%) HP:0000501
38 ptosis occasional (7.5%) HP:0000508
39 retinal detachment occasional (7.5%) HP:0000541
40 iris coloboma occasional (7.5%) HP:0000612
41 ectopia lentis occasional (7.5%) HP:0001083
42 abnormality of the mitral valve occasional (7.5%) HP:0001633
43 abnormality of the pulmonary valve occasional (7.5%) HP:0001641
44 patent ductus arteriosus occasional (7.5%) HP:0001643
45 highly arched eyebrow occasional (7.5%) HP:0002553
46 intestinal malrotation occasional (7.5%) HP:0002566
47 scoliosis occasional (7.5%) HP:0002650
48 genu valgum occasional (7.5%) HP:0002857
49 cubitus valgus occasional (7.5%) HP:0002967
50 clinodactyly of the 5th finger occasional (7.5%) HP:0004209
51 single median maxillary incisor occasional (7.5%) HP:0006315
52 feeding difficulties in infancy occasional (7.5%) HP:0008872
53 aplasia/hypoplasia of the thumb occasional (7.5%) HP:0009601
54 cognitive impairment occasional (7.5%) HP:0100543
55 hearing impairment occasional (7.5%) HP:0000365
56 preauricular skin tag occasional (7.5%) HP:0000384
57 webbed neck occasional (7.5%) HP:0000465
58 visual impairment occasional (7.5%) HP:0000505
59 cataract occasional (7.5%) HP:0000518
60 nystagmus occasional (7.5%) HP:0000639
61 delayed eruption of teeth occasional (7.5%) HP:0000684
62 abnormality of the clavicles occasional (7.5%) HP:0000889
63 seizures occasional (7.5%) HP:0001250
64 neurological speech impairment occasional (7.5%) HP:0002167
65 malformation of the heart and great vessels occasional (7.5%) HP:0002564
66 scoliosis occasional (7.5%) HP:0002650
67 kyphosis occasional (7.5%) HP:0002808
68 abnormality of the shoulder occasional (7.5%) HP:0003043
69 hyperlordosis occasional (7.5%) HP:0003307
70 aplasia/hypoplasia of the corpus callosum occasional (7.5%) HP:0007370
71 abnormality of the palpebral fissures occasional (7.5%) HP:0008050
72 self-injurious behavior occasional (7.5%) HP:0100716
73 long thorax occasional (7.5%) HP:0100818
74 submucous cleft hard palate HP:0000176
75 bifid uvula HP:0000193
76 narrow face HP:0000275
77 long face HP:0000276
78 long philtrum HP:0000343
79 sensorineural hearing impairment HP:0000407
80 prominent nasal bridge HP:0000426
81 broad nasal tip HP:0000455
82 bifid nasal tip HP:0000456
83 microcornea HP:0000482
84 glaucoma HP:0000501
85 ptosis HP:0000508
86 congenital cataract HP:0000519
87 microphthalmos HP:0000568
88 visual loss HP:0000572
89 thick eyebrow HP:0000574
90 exotropia HP:0000577
91 blepharophimosis HP:0000581
92 oligodontia HP:0000677
93 delayed eruption of teeth HP:0000684
94 dental malocclusion HP:0000689
95 septate vagina HP:0001153
96 intellectual disability, mild HP:0001256
97 x-linked dominant inheritance HP:0001423
98 ventricular septal defect HP:0001629
99 defect in the atrial septum HP:0001631
100 mitral valve prolapse HP:0001634
101 hammertoe HP:0001765
102 short stature HP:0004322
103 2-3 toe syndactyly HP:0004691
104 persistence of primary teeth HP:0006335
105 laterally curved eyebrow HP:0007733
106 persistent hyperplastic primary vitreous HP:0007968
107 increased number of teeth HP:0011069
108 fused teeth HP:0011090

Drugs & Therapeutics for Oculofaciocardiodental Syndrome

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Drug clinical trials:

Search ClinicalTrials for Oculofaciocardiodental Syndrome

Search NIH Clinical Center for Oculofaciocardiodental Syndrome

Genetic Tests for Oculofaciocardiodental Syndrome

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Genetic tests related to Oculofaciocardiodental Syndrome:

id Genetic test Affiliating Genes
1 Syndromic Microphthalmia 220 BCOR
2 Oculofaciocardiodental Syndrome22

Anatomical Context for Oculofaciocardiodental Syndrome

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MalaCards organs/tissues related to Oculofaciocardiodental Syndrome:

32
Heart, Eye, Testes, Bone, Kidney

Animal Models for Oculofaciocardiodental Syndrome or affiliated genes

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Publications for Oculofaciocardiodental Syndrome

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Articles related to Oculofaciocardiodental Syndrome:

idTitleAuthorsYear
1
Oculofaciocardiodental syndrome: novel BCOR mutations and expression in dental cells. (24694763)
2014
2
BCOR mutations and unstoppable root growth: a commentary on oculofaciocardiodental syndrome: novel BCOR mutations and expression in dental cells. (24785690)
2014
3
Oculofaciocardiodental syndrome: a rare case and review of the literature. (21740180)
2012
4
A family of oculofaciocardiodental syndrome (OFCD) with a novel BCOR mutation and genomic rearrangements involving NHS. (22301464)
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 Oculofaciocardiodental Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Oculofaciocardiodental Syndrome:

64
id Symbol AA change Variation ID SNP ID
1BCORp.Pro85LeuVAR_020921rs28935183

Clinvar genetic disease variations for Oculofaciocardiodental Syndrome:

6
id Gene Name Type Significance SNP ID Assembly Location
1NAA10NAA10, IVS7DS, T-A, +2single nucleotide variantPathogenic
2BCORNM_001123384.1(BCOR): c.254C> T (p.Pro85Leu)single nucleotide variantPathogenicrs121434618GRCh37Chr X, 39934345: 39934345
3BCORBCOR, IVS8AS, G-T, -1single nucleotide variantPathogenic
4BCORNM_001123384.1(BCOR): c.2926C> T (p.Arg976Ter)single nucleotide variantPathogenicrs121434619GRCh37Chr X, 39931673: 39931673
5BCORBCOR, 1-BP DEL, 3881AdeletionPathogenic
6BCORBCOR, EX9-15DELdeletionPathogenic
7BCORBCOR, 2-BP DEL, 2488AGdeletionPathogenic
8BCORBCOR, 1-BP DEL, 3286GdeletionPathogenic
9BCORBCOR, 60-KB DELdeletionPathogenic
10BCORBCOR, 1-BP DEL, 1315CdeletionPathogenic

Expression for genes affiliated with Oculofaciocardiodental Syndrome

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Expression patterns in normal tissues for genes affiliated with Oculofaciocardiodental Syndrome

Search GEO for disease gene expression data for Oculofaciocardiodental Syndrome.

Pathways for genes affiliated with Oculofaciocardiodental Syndrome

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Compounds for genes affiliated with Oculofaciocardiodental Syndrome

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GO Terms for genes affiliated with Oculofaciocardiodental Syndrome

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Products for genes affiliated with Oculofaciocardiodental Syndrome

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  • Antibodies
  • Proteins
  • Lysates

Sources for Oculofaciocardiodental Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet