MAA2
MCID: OCL014
MIFTS: 43

Oculofaciocardiodental Syndrome (MAA2) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Fetal diseases, Oral diseases, Cardiovascular diseases categories
Download this MalaCard

Summaries for Oculofaciocardiodental Syndrome

About this section
Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 65Wikipedia, 47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard
NIH Rare Diseases:43 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: Oculofaciocardiodental Syndrome, also known as ofcd syndrome, is related to microphthalmia and lenz microphthalmia syndrome, and has symptoms including cleft palate without cleft lip/submucosal cleft palate/bifid uvula, anodontia/oligodontia/hypodontia and abnormal dentition/dental position/implantation/unerupted/dental ankylosis. 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...

Description from OMIM:47 300166,309800

Aliases & Classifications for Oculofaciocardiodental Syndrome

About this section
Sources:
43NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 49Orphanet, 62UMLS, 45Novoseek, 20GeneTests, 47OMIM, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet, 36MESH via Orphanet
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

49
microphthalmia, lenz type:
Inheritance: X-linked recessive; Age of onset: Neonatal/infancy
oculofaciocardiodental syndrome:
Inheritance: X-linked dominant; Age of onset: Neonatal/infancy


Aliases & Descriptions:

oculofaciocardiodental syndrome 43 22 21 49 62
ofcd syndrome 43 21 45 49
microphthalmia, syndromic 2 21 47 62
syndromic microphthalmia type 2 43 20
mcops2 43 21
microphthalmia, cataracts, radiculomegaly, and septal heart defects 21
cataract - microphthalmia - radiculomegaly - septal heart defect 49
microphthalmia cataracts radiculomegaly and septal heart defects 43
oculo-facio-cardio-dental syndrome 21
microphthalmia syndromic 2 43
microphthalmia, lenz type 49
lenz microphthalmia 49
anop2 43
maa2 43


External Ids:

ICD10 via Orphanet26 Q11.2, Q87.8
SNOMED-CT via Orphanet59 438504004
UMLS via Orphanet63 C0796016, C1846265, C2931601
MESH via Orphanet36 C537465, C537735

Related Diseases for Oculofaciocardiodental Syndrome

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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 syndrome10.3
4townes-brocks syndrome10.2
5mental retardation10.2
6microphthalmia, syndrome 110.2
7otodental syndrome10.1

Graphical network of diseases related to Oculofaciocardiodental Syndrome:



Diseases related to oculofaciocardiodental syndrome

Symptoms for Oculofaciocardiodental Syndrome

About this section
Sources:
47OMIM, 49Orphanet
See all sources

Symptoms by clinical synopsis from OMIM:

300166

Clinical features from OMIM:

300166,309800

Symptoms:

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

Drugs & Therapeutics for Oculofaciocardiodental Syndrome

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
See all sources

Drug clinical trials:

Search ClinicalTrials for Oculofaciocardiodental Syndrome

Search NIH Clinical Center for Oculofaciocardiodental Syndrome

Genetic Tests for Oculofaciocardiodental Syndrome

About this section
Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Oculofaciocardiodental Syndrome:

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

Anatomical Context for Oculofaciocardiodental Syndrome

About this section
Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Oculofaciocardiodental Syndrome:

33
Heart, Eye, Testes, Kidney, Bone

Animal Models for Oculofaciocardiodental Syndrome or affiliated genes

About this section

Publications for Oculofaciocardiodental Syndrome

About this section
Sources:
52PubMed
See all sources

Articles related to Oculofaciocardiodental Syndrome:

idTitleAuthorsYear
1
Oculofaciocardiodental syndrome: a rare case and review of the literature. (21740180)
2012
2
A family of oculofaciocardiodental syndrome (OFCD) with a novel BCOR mutation and genomic rearrangements involving NHS. (22301464)
2012
3
Oculofaciocardiodental syndrome: report of a rare case. (19093058)
2008
4
Oculofaciocardiodental syndrome and orthodontics. (17208111)
2007
5
Case reports of oculofaciocardiodental syndrome with unusual dental findings. (15957158)
2005

Variations for Oculofaciocardiodental Syndrome

About this section
Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
See all sources

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:

1
id Gene Name Type Significance SNP ID Assembly Location
1BCORNM_001123384.1(BCOR): c.254C> T (p.Pro85Leu)single nucleotide variantPathogenicrs121434618GRCh37Chr X, 39934345: 39934345
2BCORBCOR, IVS8AS, G-T, -1single nucleotide variantPathogenic
3BCORNM_001123384.1(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
9BCORBCOR, 1-BP DEL, 1315CdeletionPathogenic

Expression for genes affiliated with Oculofaciocardiodental Syndrome

About this section
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section

Compounds for genes affiliated with Oculofaciocardiodental Syndrome

About this section

GO Terms for genes affiliated with Oculofaciocardiodental Syndrome

About this section

Products for genes affiliated with Oculofaciocardiodental Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Oculofaciocardiodental Syndrome

About this section
4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet