Leber Congenital Amaurosis with Early-Onset Deafness disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases
Anatomical: Neuronal diseases Ear diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹¹ DOID:0112240

OMIM® ⁵⁷ 617879

MeSH ⁴³ D054062 D057130

MedGen ⁴⁰ C4693498 CN807950

SNOMED-CT via HPO ⁶⁹ 13164000 95695004

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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.

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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:

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

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

³⁰

#	Description	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

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

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

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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

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Anatomical Context for Leber Congenital Amaurosis with Early-Onset Deafness

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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	Luscan R...Perrault I	29198720	2017
2	TUBB4B gene mutation in Leber phenotype of congenital amaurosis syndrome associated with early-onset deafness. ⁶²	Maasz A...Melegh B	35240325	2022

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Genes for Leber Congenital Amaurosis with Early-Onset Deafness

Genes related to Leber Congenital Amaurosis with Early-Onset Deafness (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	TUBB4B	Tubulin Beta 4B Class IVb	Protein Coding	949.87	Molecular basis known ⁵⁷ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Summaries (show sections)	29198720
2	PDZD7	PDZ Domain Containing 7	Protein Coding	5.15	DISEASES inferred ¹⁴
3	CLRN1	Clarin 1	Protein Coding	4.89	DISEASES inferred ¹⁴
4	USH1G	USH1 Protein Network Component Sans	Protein Coding	4.87	DISEASES inferred ¹⁴
5	USH2A	Usherin	Protein Coding	4.83	DISEASES inferred ¹⁴
6	WHRN	Whirlin	Protein Coding	4.68	DISEASES inferred ¹⁴

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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

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Expression for Leber Congenital Amaurosis with Early-Onset Deafness

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

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Pathways for Leber Congenital Amaurosis with Early-Onset Deafness

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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

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Sources for Leber Congenital Amaurosis with Early-Onset Deafness

¹ BitterDB

² CDC

³ Cell Signaling Technology

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⁵ ClinVar

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⁷ Cochrane Library

⁸ Cosmic

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¹⁰ DGIdb

¹¹ Disease Ontology

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²⁶ GEO DataSets

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³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

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³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

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³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

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⁴³ MeSH

⁴⁴ MESH via Orphanet

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⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

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⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

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⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

LCAEOD MCID: LBR032 MIFTS: 31	Leber Congenital Amaurosis with Early-Onset Deafness (LCAEOD) Categories: Ear diseases, Genetic diseases, Neuronal diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Related diseases Publications Symptoms & Phenotypes Expand all tables

Leber Congenital Amaurosis with Early-Onset Deafness (LCAEOD)

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

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

Characteristics:

Inheritance:

OMIM®:

Classifications:

External Ids:

Summaries for Leber Congenital Amaurosis with Early-Onset Deafness

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:

Graphical network of the top 20 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:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

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

Drugs & Therapeutics 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:

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:

Genes for Leber Congenital Amaurosis with Early-Onset Deafness

Genes related to Leber Congenital Amaurosis with Early-Onset Deafness (1 elite genes):

Variations for Leber Congenital Amaurosis with Early-Onset Deafness

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

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

Expression 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:

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

Sources for Leber Congenital Amaurosis with Early-Onset Deafness