Microphthalmia, Isolated 4 malady
Categories: Genetic diseases, Eye diseases, Fetal diseases, Rare diseases
Aliases & Descriptions for Microphthalmia, Isolated 4:
microphthalmia, isolated 4:
Inheritance: autosomal dominant inheritance
Global: Genetic diseases, Fetal diseases, Rare diseases
Anatomical: Eye diseases
UniProtKB/Swiss-Prot:69 Microphthalmia, isolated, 4: A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present.
MalaCards based summary: Microphthalmia, Isolated 4, also known as mcop4, is related to microphthalmia, isolated 2 and microphthalmia, isolated 3, and has symptoms including microphthalmia, coloboma and postaxial polydactyly. An important gene associated with Microphthalmia, Isolated 4 is GDF6 (Growth Differentiation Factor 6). Affiliated tissues include eye, retina and testes.
Disease Ontology:11 A microphthalmia that has material basis in mutation in the GDF6 gene on chromosome 8q22.
Description from OMIM:51 613094
Diseases in the Isolated Microphthalmia family:
Diseases related to Microphthalmia, Isolated 4 via text searches within MalaCards or GeneCards Suite gene sharing:
Clinical features from OMIM:613094
MalaCards organs/tissues related to Microphthalmia, Isolated 4:35
Eye, Retina, Testes
UniProtKB/Swiss-Prot genetic disease variations for Microphthalmia, Isolated 4:69
Clinvar genetic disease variations for Microphthalmia, Isolated 4:5
Search GEO for disease gene expression data for Microphthalmia, Isolated 4.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet