LCAEOD
MCID: LBR032
MIFTS: 18

Leber Congenital Amaurosis with Early-Onset Deafness (LCAEOD)

Categories: Ear diseases, Genetic diseases, Neuronal 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 12 72 29 6
Lcaeod 57 12 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

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


HPO:

31
leber congenital amaurosis with early-onset deafness:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0112240
OMIM® 57 617879
SNOMED-CT via HPO 68 13164000 263681008 95695004

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) (Updated 20-May-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.

Related Diseases for Leber Congenital Amaurosis with Early-Onset Deafness

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

Human phenotypes related to Leber Congenital Amaurosis with Early-Onset Deafness:

31 (showing 3, show less)
# Description HPO Frequency HPO Source Accession
1 reduced visual acuity 31 HP:0007663
2 high hypermetropia 31 HP:0008499
3 retinal degeneration 31 HP:0000546

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
reduced visual acuity
high hypermetropia
retinal vessel attenuation
retinal degeneration, early-onset
generalized choroid atrophy
more
Head And Neck Ears:
sensorineural hearing loss, early-onset
endocochlear deafness

Clinical features from OMIM®:

617879 (Updated 20-May-2021)

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

Genetic tests related to Leber Congenital Amaurosis with Early-Onset Deafness:

# Genetic test Affiliating Genes
1 Leber Congenital Amaurosis with Early-Onset Deafness 29 TUBB4B

Anatomical Context for Leber Congenital Amaurosis with Early-Onset Deafness

Publications for Leber Congenital Amaurosis with Early-Onset Deafness

Articles related to Leber Congenital Amaurosis with Early-Onset Deafness:

(showing 1, show less)
# Title Authors PMID Year
1
Mutations in TUBB4B Cause a Distinctive Sensorineural Disease. 6 57
29198720 2017

Variations for Leber Congenital Amaurosis with Early-Onset Deafness

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

6 (showing 3, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TUBB4B NM_006088.6(TUBB4B):c.1172G>A (p.Arg391His) SNV Likely pathogenic 492938 rs1554786803 GRCh37: 9:140137842-140137842
GRCh38: 9:137243390-137243390
2 TUBB4B NM_006088.6(TUBB4B):c.1171C>T (p.Arg391Cys) SNV Likely pathogenic 492939 rs1554786802 GRCh37: 9:140137841-140137841
GRCh38: 9:137243389-137243389
3 TUBB4B NM_006088.6(TUBB4B):c.587_588del (p.Thr196fs) Microsatellite Uncertain significance 931932 GRCh37: 9:140137254-140137255
GRCh38: 9:137242802-137242803

UniProtKB/Swiss-Prot genetic disease variations for Leber Congenital Amaurosis with Early-Onset Deafness:

72 (showing 2, show less)
# Symbol AA change Variation ID SNP ID
1 TUBB4B p.Arg391Cys VAR_080782 rs155478680
2 TUBB4B p.Arg391His VAR_080783 rs155478680

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 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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