LCAEOD
MCID: LBR032
MIFTS: 31
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Leber Congenital Amaurosis with Early-Onset Deafness (LCAEOD)
Categories:
Ear diseases, Genetic diseases, Neuronal diseases
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MalaCards integrated aliases for Leber Congenital Amaurosis with Early-Onset Deafness:Characteristics:Inheritance:
Autosomal dominant 57
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
symptoms occur within the first decade of life onset at birth in some patients Classifications: |
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 08-Dec-2022) MalaCards based summary: Leber Congenital Amaurosis with Early-Onset Deafness, also known as lcaeod, is related to deafness, autosomal recessive and polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract. 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 UniProtKB/Swiss-Prot: 73 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. Disease Ontology: 11 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. |
Human phenotypes related to Leber Congenital Amaurosis with Early-Onset Deafness:30
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:617879 (Updated 08-Dec-2022)MGI Mouse Phenotypes related to Leber Congenital Amaurosis with Early-Onset Deafness:45
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Articles related to Leber Congenital Amaurosis with Early-Onset Deafness:
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ClinVar genetic disease variations for Leber Congenital Amaurosis with Early-Onset Deafness:5
UniProtKB/Swiss-Prot genetic disease variations for Leber Congenital Amaurosis with Early-Onset Deafness:73
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Search
GEO
for disease gene expression data for Leber Congenital Amaurosis with Early-Onset Deafness.
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Cellular components related to Leber Congenital Amaurosis with Early-Onset Deafness according to GeneCards Suite gene sharing:(show all 12)
Biological processes related to Leber Congenital Amaurosis with Early-Onset Deafness according to GeneCards Suite gene sharing:(show all 11)
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