MCID: LBR032
MIFTS: 12

Leber Congenital Amaurosis with Early-Onset Deafness

Categories: Genetic diseases, Ear diseases

Aliases & Classifications for Leber Congenital Amaurosis with Early-Onset Deafness

MalaCards integrated aliases for Leber Congenital Amaurosis with Early-Onset Deafness:

Name: Leber Congenital Amaurosis with Early-Onset Deafness 57 75 6
Lcaeod 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
symptoms occur within the first decade of life
onset at birth in some patients


Classifications:



External Ids:

OMIM 57 617879
MedGen 42 CN807950
MeSH 44 D054062

Summaries for Leber Congenital Amaurosis with Early-Onset Deafness

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)

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).

UniProtKB/Swiss-Prot : 75 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.

Related Diseases for Leber Congenital Amaurosis with Early-Onset Deafness

Symptoms & Phenotypes for Leber Congenital Amaurosis with Early-Onset Deafness

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
sensorineural hearing loss, early-onset
endocochlear deafness

Head And Neck Eyes:
retinal degeneration, early-onset
reduced visual acuity
high hypermetropia
retinal vessel attenuation
generalized choroid atrophy
more

Clinical features from OMIM:

617879

Drugs & Therapeutics for Leber Congenital Amaurosis with Early-Onset Deafness

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

Genetic Tests for Leber Congenital Amaurosis with Early-Onset Deafness

Anatomical Context for Leber Congenital Amaurosis with Early-Onset Deafness

Publications for Leber Congenital Amaurosis with Early-Onset Deafness

Variations for Leber Congenital Amaurosis with Early-Onset Deafness

ClinVar genetic disease variations for Leber Congenital Amaurosis with Early-Onset Deafness:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TUBB4B NM_006088.5(TUBB4B): c.1172G> A (p.Arg391His) single nucleotide variant Pathogenic GRCh37 Chromosome 9, 140137842: 140137842
2 TUBB4B NM_006088.5(TUBB4B): c.1172G> A (p.Arg391His) single nucleotide variant Pathogenic GRCh38 Chromosome 9, 137243390: 137243390
3 TUBB4B NM_006088.5(TUBB4B): c.1171C> T (p.Arg391Cys) single nucleotide variant Pathogenic GRCh37 Chromosome 9, 140137841: 140137841
4 TUBB4B NM_006088.5(TUBB4B): c.1171C> T (p.Arg391Cys) single nucleotide variant Pathogenic GRCh38 Chromosome 9, 137243389: 137243389

Expression for Leber Congenital Amaurosis with Early-Onset Deafness

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

Pathways for Leber Congenital Amaurosis with Early-Onset Deafness

GO Terms for Leber Congenital Amaurosis with Early-Onset Deafness

Sources for Leber Congenital Amaurosis with Early-Onset Deafness

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....