Microphthalmia, Syndromic 2 malady
Categories: Genetic diseases, Rare diseases, Cardiovascular diseases, Eye diseases, Endocrine diseases, Fetal diseases, Neuronal diseases, Bone diseases, Reproductive diseases, Ear diseases, Respiratory diseases, Mental diseases
Aliases & Descriptions for Microphthalmia, Syndromic 2:
microphthalmia, syndromic 2:
Inheritance: x-linked dominant inheritance
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Cardiovascular diseases, Eye diseases, Endocrine diseases, Neuronal diseases, Bone diseases, Reproductive diseases, Ear diseases, Respiratory diseases, Mental diseases
UniProtKB/Swiss-Prot:67 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 bcor-related lenz microphthalmia syndrome and pseudomyxoma peritonei, and has symptoms including aplasia/hypoplasia affecting the eye, midline defect of the nose and abnormality of the cardiac septa. An important gene associated with Microphthalmia, Syndromic 2 is BCOR (BCL6 Corepressor), and among its related pathways is Signaling events mediated by HDAC Class II. Affiliated tissues include heart, eye and bone.
NIH Rare Diseases:45 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
Genetics Home Reference:23 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.
Description from OMIM:49 300166
HPO human phenotypes related to Microphthalmia, Syndromic 2:(show all 93)
MalaCards organs/tissues related to Microphthalmia, Syndromic 2:33
Heart, Eye, Bone
UniProtKB/Swiss-Prot genetic disease variations for Microphthalmia, Syndromic 2:67
Clinvar genetic disease variations for Microphthalmia, Syndromic 2:5 (show all 14)
Search GEO for disease gene expression data for Microphthalmia, Syndromic 2.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet