Leber Congenital Amaurosis with Early-Onset Deafness (LCAEOD)

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Disease Ontology 12 DOID:0112240 OMIM® 57 617879 MeSH 44 D054062 D057130

MedGen 41 C4693498 CN807950 SNOMED-CT via HPO 68 13164000 263681008 95695004

OMIM® : ⁵⁷ Leber congenital amaurosis with early-onset deafness is an autosomal dominant syndrome manifesting as early-onset and severe photoreceptor and cochlear cell loss. Some patients show extinguished responses on electroretinography and moderate to severe hearing loss at birth (Luscan et al., 2017). (617879) (Updated 05-Apr-2021)

MalaCards based summary : Leber Congenital Amaurosis with Early-Onset Deafness, is also known as lcaeod. An important gene associated with Leber Congenital Amaurosis with Early-Onset Deafness is TUBB4B (Tubulin Beta 4B Class IVb). Related phenotypes are reduced visual acuity and high hypermetropia

Disease Ontology : ¹² A sensory system disease characterized by early-onset and severe photoreceptor and cochlear cell loss that has material basis in heterozygous mutation in TUBB4B on chromosome 9q34.3.

UniProtKB/Swiss-Prot : ⁷² Leber congenital amaurosis with early-onset deafness: An autosomal dominant disease characterized by severe retinal degeneration and sensorineural hearing loss. Symptoms occur within the first decade of life. Onset at birth is observed in some patients.

Clinical features from OMIM®:

617879 (Updated 05-Apr-2021)

Search Clinical Trials , NIH Clinical Center for Leber Congenital Amaurosis with Early-Onset Deafness

Search GEO for disease gene expression data for Leber Congenital Amaurosis with Early-Onset Deafness.