MAA2
MCID: OCL014
MIFTS: 40

Oculofaciocardiodental Syndrome (MAA2) malady

Neuronal diseases, Eye diseases, Fetal diseases, Cardiovascular diseases categories

Summaries for Oculofaciocardiodental Syndrome

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Sources:
21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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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: Oculofaciocardiodental Syndrome, also known as microphthalmia, syndromic 2, 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:63 Oculofaciocardiodental syndrome is a rare X linked genetic disorder. more...

Description from OMIM:46 300166,309800

Aliases & Classifications for Oculofaciocardiodental Syndrome

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 35MESH via Orphanet, 61UMLS via Orphanet
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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


Aliases & Descriptions:

oculofaciocardiodental syndrome 42 22 21 48 60
microphthalmia, syndromic 2 21 46 60
ofcd syndrome 21 44 48
microphthalmia syndromic 2 42 20
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
oculo-facio-cardio-dental syndrome 21
microphthalmia, lenz type 48
lenz microphthalmia 48
anop2 42
maa2 42


External Ids:

ICD10 via Orphanet26 Q11.2, Q87.8
SNOMED-CT via Orphanet57 438504004
MESH via Orphanet35 C537465, C537735
UMLS via Orphanet61 C1846265, C2931601

Related Diseases for Oculofaciocardiodental Syndrome

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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
1microphthalmia10.4
2lenz microphthalmia syndrome10.4
3bcor-related lenz microphthalmia syndrome10.0

Clinical Features for Oculofaciocardiodental Syndrome

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

300166,309800

Clinical synopsis from OMIM:

300166

Symptoms:

48 (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

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Oculofaciocardiodental Syndrome

Search CenterWatch for Oculofaciocardiodental Syndrome

Genetic Tests for Oculofaciocardiodental Syndrome

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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

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32MalaCards
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MalaCards organs/tissues related to Oculofaciocardiodental Syndrome:

32
Heart, Eye, Testes, Kidney, Bone

Animal Models for Oculofaciocardiodental Syndrome or affiliated genes

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Publications for Oculofaciocardiodental Syndrome

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Genetic Variations for Oculofaciocardiodental Syndrome

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Oculofaciocardiodental Syndrome:

62
id Symbol AA change Variation ID SNP ID
1BCORp.Pro85LeuVAR_020921rs28935183

Expression for genes affiliated with Oculofaciocardiodental Syndrome

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Oculofaciocardiodental Syndrome

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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
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet