MAA2
MCID: OCL014
MIFTS: 35

Oculofaciocardiodental Syndrome (MAA2) malady

Neuronal, Eye, Fetal, Cardiovascular categories

Summaries for Oculofaciocardiodental Syndrome

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 33MalaCards
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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 microphthalmia, syndromic 2, is related to microphthalmia and lenz microphthalmia syndrome, and has symptoms including low set ears/posteriorly rotated ears, syndactyly of fingers/interdigital palm and genu valgum. An important gene associated with Oculofaciocardiodental Syndrome is BCOR (BCL6 corepressor). Affiliated tissues include heart.

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:64 Lenz microphthalmia syndrome (or LMS) is a very rare inherited disorder characterized by abnormal... more...

Description from OMIM:47 300166,309800

Aliases & Classifications for Oculofaciocardiodental Syndrome

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 45Novoseek, 49Orphanet, 61UMLS, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 36MESH via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Neuronal, Eye, Cardiovascular


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 61
microphthalmia, syndromic 2 21 47 61
ofcd syndrome 21 45 49
microphthalmia syndromic 2 43 20
mcops2 43 21
microphthalmia, cataracts, radiculomegaly, and septal heart defects 21
microphthalmia cataracts radiculomegaly and septal heart defects 43
cataract - microphthalmia - radiculomegaly - septal heart defect 49
oculo-facio-cardio-dental syndrome 21
microphthalmia, lenz type 49
lenz microphthalmia 49
anop2 43
maa2 43


External Ids:

ICD10 via Orphanet26 Q11.2, Q87.8
SNOMED-CT via Orphanet58 438504004
MESH via Orphanet36 C537465, C537735
UMLS via Orphanet62 C1846265, C2931601

Related Diseases for Oculofaciocardiodental Syndrome

Sources:
17GeneCards, 18GeneDecks
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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 syndrome10.3
4anophthalmia/microphthalmia10.2
5townes-brocks syndrome10.2
6otodental syndrome10.1

Graphical network of diseases related to Oculofaciocardiodental Syndrome:



Diseases related to oculofaciocardiodental syndrome

Clinical Features for Oculofaciocardiodental Syndrome

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

300166,309800

Clinical synopsis from OMIM:

300166

Symptoms:

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

Drugs & Therapeutics for Oculofaciocardiodental Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Oculofaciocardiodental Syndrome

Drug clinical trials:

Search ClinicalTrials for Oculofaciocardiodental Syndrome

Search NIH Clinical Center for Oculofaciocardiodental Syndrome

Search CenterWatch for Oculofaciocardiodental Syndrome

Genetic Tests for Oculofaciocardiodental Syndrome

Sources:
20GeneTests, 22GTR
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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

Sources:
33MalaCards
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MalaCards organs/tissues related to Oculofaciocardiodental Syndrome:

33
Heart

Animal Models for Oculofaciocardiodental Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Oculofaciocardiodental Syndrome

Sources:
51PubMed
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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
6
Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR. (15004558)
2004

Genetic Variations for Oculofaciocardiodental Syndrome

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Oculofaciocardiodental Syndrome:

63
id Symbol AA change Variation SNP ID
1BCORp.Pro85LeuVAR_020921rs28935183

Expression for genes affiliated with Oculofaciocardiodental Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

Compounds for genes affiliated with Oculofaciocardiodental Syndrome

GO Terms for genes affiliated with Oculofaciocardiodental Syndrome

Products for genes affiliated with Oculofaciocardiodental Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Oculofaciocardiodental Syndrome

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet