LCAEOD
MCID: LBR032
MIFTS: 31

Leber Congenital Amaurosis with Early-Onset Deafness (LCAEOD)

Categories: Ear diseases, Genetic diseases, Neuronal diseases
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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 11 73 28 5 14 38
Lcaeod 57 11 73

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:



External Ids:

Disease Ontology 11 DOID:0112240
OMIM® 57 617879
SNOMED-CT via HPO 69 13164000 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 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.

Related Diseases for Leber Congenital Amaurosis with Early-Onset Deafness

Diseases related to Leber Congenital Amaurosis with Early-Onset Deafness via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 9.9 WHRN USH1G
2 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 9.9 WHRN PDZD7
3 usher syndrome, type ig 9.8 WHRN USH1G
4 deafness, autosomal dominant 25 9.8 WHRN USH1G
5 deafness, autosomal dominant 56 9.8 WHRN USH2A
6 retinitis pigmentosa 25 9.7 USH2A CLRN1
7 deafness, autosomal recessive 2 9.7 WHRN USH1G PDZD7
8 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.7 WHRN USH1G
9 deafness, autosomal recessive 57 9.7 WHRN USH1G PDZD7
10 late-onset retinal degeneration 9.7 WHRN USH2A
11 inner ear disease 9.6 WHRN USH2A
12 usher syndrome, type ic 9.6 WHRN USH1G CLRN1
13 usher syndrome, type iic 9.6 WHRN USH2A PDZD7
14 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.5 WHRN USH2A PDZD7
15 rare genetic deafness 9.5 WHRN USH2A CLRN1
16 usher syndrome, type id 9.5 WHRN USH2A USH1G
17 deafness, autosomal dominant 11 9.4 WHRN USH1G PDZD7 CLRN1
18 deafness, autosomal recessive 31 9.3 WHRN USH2A PDZD7 CLRN1
19 usher syndrome, type iid 9.2 WHRN USH2A USH1G CLRN1
20 deafness, autosomal recessive 23 9.2 WHRN USH2A USH1G CLRN1
21 eye degenerative disease 9.2 WHRN USH2A USH1G CLRN1
22 eye disease 9.2 WHRN USH2A USH1G
23 deafness, autosomal recessive 12 9.0 WHRN USH2A USH1G PDZD7 CLRN1
24 usher syndrome, type i 9.0 WHRN USH2A USH1G PDZD7 CLRN1
25 usher syndrome, type iia 9.0 WHRN USH2A USH1G PDZD7 CLRN1
26 usher syndrome 9.0 WHRN USH2A USH1G PDZD7 CLRN1
27 auditory system disease 9.0 WHRN USH2A USH1G PDZD7 CLRN1
28 usher syndrome, type iiia 9.0 WHRN USH2A USH1G PDZD7 CLRN1
29 usher syndrome type 2 9.0 WHRN USH2A USH1G PDZD7 CLRN1
30 autosomal dominant nonsyndromic deafness 9.0 WHRN USH2A USH1G PDZD7 CLRN1
31 autosomal recessive nonsyndromic deafness 9.0 WHRN USH2A USH1G PDZD7 CLRN1
32 fundus dystrophy 9.0 WHRN USH2A USH1G PDZD7 CLRN1
33 cone-rod dystrophy 2 9.0 WHRN USH2A USH1G PDZD7 CLRN1
34 retinitis pigmentosa 8.9 WHRN USH2A USH1G PDZD7 CLRN1
35 leber plus disease 8.8 WHRN USH2A USH1G TUBB4B PDZD7 CLRN1
36 sensorineural hearing loss 8.8 WHRN USH2A USH1G TUBB4B PDZD7 CLRN1

Graphical network of the top 20 diseases related to Leber Congenital Amaurosis with Early-Onset Deafness:



Diseases related to 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:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 reduced visual acuity 30 HP:0007663
2 high hypermetropia 30 HP:0008499
3 retinal degeneration 30 HP:0000546

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

MGI Mouse Phenotypes related to Leber Congenital Amaurosis with Early-Onset Deafness:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.55 CLRN1 PDZD7 USH1G USH2A WHRN
2 hearing/vestibular/ear MP:0005377 9.35 CLRN1 PDZD7 USH1G USH2A WHRN
3 vision/eye MP:0005391 9.02 CLRN1 PDZD7 USH1G USH2A WHRN

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 28 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:

# Title Authors PMID Year
1
Mutations in TUBB4B Cause a Distinctive Sensorineural Disease. 57 5
29198720 2017
2
TUBB4B gene mutation in Leber phenotype of congenital amaurosis syndrome associated with early-onset deafness. 62
35240325 2022

Variations for Leber Congenital Amaurosis with Early-Onset Deafness

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

5
# 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) MICROSAT Uncertain Significance
931932 rs1836785797 GRCh37: 9:140137254-140137255
GRCh38: 9:137242802-137242803
4 TUBB4B NM_006088.6(TUBB4B):c.1072C>T (p.Pro358Ser) SNV Uncertain Significance
1342143 GRCh37: 9:140137742-140137742
GRCh38: 9:137243290-137243290

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

73
# Symbol AA change Variation ID SNP ID
1 TUBB4B p.Arg391Cys VAR_080782 rs1554786802
2 TUBB4B p.Arg391His VAR_080783 rs1554786803

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

Cellular components related to Leber Congenital Amaurosis with Early-Onset Deafness according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 ciliary basal body GO:0036064 9.93 WHRN USH2A USH1G
2 cilium GO:0005929 9.91 WHRN USH1G PDZD7
3 photoreceptor inner segment GO:0001917 9.85 USH1G USH2A WHRN
4 cell projection GO:0042995 9.8 WHRN USH2A USH1G PDZD7
5 photoreceptor connecting cilium GO:0032391 9.8 WHRN USH2A USH1G
6 stereocilium tip GO:0032426 9.78 WHRN PDZD7
7 stereocilium GO:0032420 9.73 WHRN PDZD7 CLRN1
8 periciliary membrane compartment GO:1990075 9.71 WHRN USH2A
9 stereocilia ankle link complex GO:0002142 9.63 WHRN USH2A PDZD7
10 stereocilium bundle GO:0032421 9.61 WHRN USH2A
11 USH2 complex GO:1990696 9.43 WHRN USH2A PDZD7
12 stereocilia ankle link GO:0002141 9.1 WHRN USH2A PDZD7

Biological processes related to Leber Congenital Amaurosis with Early-Onset Deafness according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 establishment of localization in cell GO:0051649 9.93 WHRN USH2A PDZD7
2 photoreceptor cell maintenance GO:0045494 9.85 USH2A USH1G CLRN1
3 sensory perception of sound GO:0007605 9.85 WHRN USH2A USH1G PDZD7 CLRN1
4 inner ear receptor cell stereocilium organization GO:0060122 9.8 WHRN USH1G
5 establishment of protein localization GO:0045184 9.8 PDZD7 USH2A WHRN
6 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.78 WHRN PDZD7
7 equilibrioception GO:0050957 9.73 USH1G CLRN1
8 auditory receptor cell stereocilium organization GO:0060088 9.73 WHRN PDZD7 CLRN1
9 auditory receptor cell development GO:0060117 9.58 PDZD7 CLRN1
10 sensory perception of light stimulus GO:0050953 9.56 WHRN USH2A USH1G CLRN1
11 inner ear receptor cell differentiation GO:0060113 9.17 WHRN USH2A USH1G PDZD7

Sources for Leber Congenital Amaurosis with Early-Onset Deafness

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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