LCA3
MCID: LBR013
MIFTS: 37

Leber Congenital Amaurosis 3 (LCA3) malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Neuronal diseases

Aliases & Classifications for Leber Congenital Amaurosis 3

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Aliases & Descriptions for Leber Congenital Amaurosis 3:

Name: Leber Congenital Amaurosis 3 52 11 48 70 12 13 68
Leber Congenital Amaurosis Type 3 48 27 68
Lca3 11 48 70
 
Retinitis Pigmentosa, Juvenile, Autosomal Recessive 52
Amaurosis Congenita of Leber, Type 3 48

Characteristics:

HPO:

64
leber congenital amaurosis 3:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 604232
Disease Ontology11 DOID:0110331
ICD1030 H35.5
MeSH39 D057130

Summaries for Leber Congenital Amaurosis 3

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OMIM:52 Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and... (604232) more...

MalaCards based summary: Leber Congenital Amaurosis 3, also known as leber congenital amaurosis type 3, is related to leber congenital amaurosis 1 and retinitis pigmentosa, and has symptoms including visual loss, nystagmus and nyctalopia. An important gene associated with Leber Congenital Amaurosis 3 is SPATA7 (Spermatogenesis Associated 7). Affiliated tissues include retina and eye, and related mouse phenotype vision/eye.

Disease Ontology:11 A Leber congenital amaurosis that has material basis in mutation in the SPATA7 gene on chromosome 14q31.

UniProtKB/Swiss-Prot:70 Leber congenital amaurosis 3: A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus.

Related Diseases for Leber Congenital Amaurosis 3

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Diseases in the Leber Congenital Amaurosis family:

Leber Congenital Amaurosis 9 Leber Congenital Amaurosis 2
Leber Congenital Amaurosis 8 Leber Congenital Amaurosis 12
Leber Congenital Amaurosis 16 Leber Congenital Amaurosis 14
Leber Congenital Amaurosis 15 Leber Congenital Amaurosis 5
Leber Congenital Amaurosis 11 Leber Congenital Amaurosis 17
Leber Congenital Amaurosis 10 Leber Congenital Amaurosis 6
Leber Congenital Amaurosis 13 leber congenital amaurosis 3
Leber Congenital Amaurosis 4 Leber Congenital Amaurosis 1
Leber Congenital Amaurosis 7 Aipl1-Related Leber Congenital Amaurosis
Cep290-Related Leber Congenital Amaurosis Crb1-Related Leber Congenital Amaurosis
Crx-Related Leber Congenital Amaurosis Gucy2d-Related Leber Congenital Amaurosis
Impdh1-Related Leber Congenital Amaurosis Iqcb1-Related Leber Congenital Amaurosis
Kcnj13-Related Leber Congenital Amaurosis Lca5-Related Leber Congenital Amaurosis
Lrat-Related Leber Congenital Amaurosis Nmnat1-Related Leber Congenital Amaurosis
Rd3-Related Leber Congenital Amaurosis Rdh12-Related Leber Congenital Amaurosis
Rpe65-Related Leber Congenital Amaurosis Rpgrip1-Related Leber Congenital Amaurosis
Spata7-Related Leber Congenital Amaurosis Tulp1-Related Leber Congenital Amaurosis

Diseases related to Leber Congenital Amaurosis 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1leber congenital amaurosis 110.8
2retinitis pigmentosa10.8
32p13.2 microdeletion syndrome10.1LCA5, SPATA7
4bartholin's duct cyst10.0LCA5, SPATA7
5epilepsy, nocturnal frontal lobe, 59.9LCA5, RPGRIP1
6adult liposarcoma9.8RDH12, RPGRIP1
7leber congenital amaurosis 99.8LCA5, RDH12, RPGRIP1
8puerperal pulmonary embolism9.6LCA5, RDH12, RPGRIP1, SPATA7
9liver cirrhosis9.6LCA5, RDH12, RPGRIP1, SPATA7
10sertoli cell-only syndrome9.5LCA5, RDH12, RPGRIP1, SPATA7
11charcot-marie-tooth disease, axonal, type 209.3LCA5, RDH12, RPGRIP1, SPATA7, UGT2A3

Graphical network of diseases related to Leber Congenital Amaurosis 3:



Diseases related to leber congenital amaurosis 3

Symptoms & Phenotypes for Leber Congenital Amaurosis 3

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Clinical features from OMIM:

604232

Human phenotypes related to Leber Congenital Amaurosis 3:

 64
id Description HPO Frequency HPO Source Accession
1 visual loss64 HP:0000572
2 nystagmus64 HP:0000639
3 nyctalopia64 HP:0000662
4 constriction of peripheral visual field64 HP:0001133

MGI Mouse Phenotypes related to Leber Congenital Amaurosis 3 according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.4LCA5, RDH12, RPGRIP1, SPATA7

Drugs & Therapeutics for Leber Congenital Amaurosis 3

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Drugs for Leber Congenital Amaurosis 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1cysteineNutraceuticalPhase 1, Phase 2200
2
Vitamin Aapproved, nutraceutical, vet_approvedPhase 149211103-57-4, 68-26-8445354
Synonyms:
(2E,4E,6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohex-1-en-1-yl)nona-2,4,6,8-tetraen-1-ol
(2E,4E,6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohexen-1-yl)nona-2,4,6,8-tetraen-1-ol
(all-E)-3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraen-1-ol
.alpha.lin
.alpha.sterol
.beta.-Retinol
11103-57-4
13123-33-6
1341-18-0
1406-67-3
17104-91-5
1rbp
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclchexen-1-yl)-2,4,6,8-nonatetraen-1-ol
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonate-traen-1-ol
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraen-1-ol
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexenyl)-2,4,6,8-nonatetraen-1-ol
3,7-dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraen-1-ol, (all-E)-Isomer
4-06-00-04133 (Beilstein Handbook Reference)
53637-36-8
5979-23-7
68-26-8
95144_FLUKA
95144_SIGMA
95146_FLUKA
95146_SIGMA
A-Mulsal
A-Sol
A-Vi-Pel
A-Vitan
AC-11701
AC1L9HU3
AC1Q7BU9
ACON
ALL-TRANS RETINOL (SEE ALSO RETINOID PROJECT 1)
AR-1L3057
ATAV
Afaxin
Agiolan
Agoncal
Alcohol 9,13-dimethyl-7-(1,1,5-trimethyl-6-cyclohexen-5-yl)-7,9,11,13-nonatetraen-15-ol
Alcovit A
All Trans Retinol
All-trans retinol
All-trans-Retinol
Alphalin
Alphasterol
Anatola
Anatola A
Anti-infective vitamin
Antixerophthalmic vitamin
Antixerophthalmisches Vitamin
Aoral
Apexol
Apostavit
Aquasol A Parenteral
Aquasynth
Atars
Avibon
Avita
Avitol
Axerol
Axerophthol
Axerophtholum
BIDD:PXR0102
BRN 0403040
Bentavit A
Biosterol
C00473
C17276
C20H30O
CCRIS 5444
CHEBI:17336
CHEMBL986
CID445354
Chocola A
Cylasphere
D014801
D06543
DB00162
Del-VI-A
Disatabs Tabs
Dofsol
Dohyfral A
EINECS 200-683-7
EINECS 234-328-2
Epiteliol
HMS1921B04
HMS2092L13
HMS501I08
HSDB 815
Hi-A-Vita
Homagenets Aoral
Homagenets aorl
Hydrovit A
IDI1_000486
LMPR01090001
LPK
LS-1578
Lard Factor
M.V.C. 9+3
M.V.I.-12
 
MLS001066379
MLS001074751
MolPort-001-785-962
Mvc Plus
Myvpack
NCGC00091784-01
NCGC00091784-02
NCGC00091784-03
NCGC00091784-04
NCGC00091784-05
NCGC00091784-06
NSC 122759
NSC122759
Nio-A-Let
Oleovitamin A
Ophthalamin
Plivit A
Prepalin
R7632_SIGMA
Retin-11,12-t2-ol (9CI)
Retinol
Retinol [INN:BAN]
Retinol solution
Retinol, all-trans- (8CI)
Retinol-(cellular-retinol-binding-protein)
Retinolo
Retinolo [DCIT]
Retinolum
Retinolum [INN-Latin]
Retrovitamin A
Ro-a-vit
Rovimix A 500
SDCCGMLS-0066724.P001
SMP2_000102
SMR000112036
SPECTRUM1501203
ST057232
Sehkraft A
Solu-A
Spectrum5_000993
Spectrum5_001997
Super A
Testavol
Testavol S
Thalasphere
UNII-81G40H8B0T
UNII-G2SH0XKK91
Vaflol
Vafol
Veroftal
Vi-.alpha.
Vi-Alpha
Vi-Dom-A
Vi-a
Vio-A
Vitamin A
Vitamin A (Feed)
Vitamin A (USP)
Vitamin A alcohol
Vitamin A alcohol (VAN)
Vitamin A cryst
Vitamin A1
Vitamin A1 alcohol
Vitamin A1 alcohol, all trans
Vitamin- A
Vitamin- A alcohol
Vitamin- A alcohol solution
Vitamin- A1
Vitamin-?A
Vitamin-?A alcohol
Vitamin-?A alcohol solution
Vitamin-?A1
Vitamine A
Vitaminum A
Vitavel A
Vitavel-A
Vitpex
Vogan
Vogan-Neu
Vogan-nu
WLN: L6UTJ A1 B1U1Y1&U2U1Y1&U2Q C1 C1
Wachstumsvitamin
ZINC03831417
Zinosan N
[11,12-3H]-Retinol
alin
all-trans-3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraen-1-ol
all-trans-Retinol
all-trans-Retinyl alcohol
all-trans-Vitamin A
all-trans-Vitamin A alcohol
all-trans-Vitamin A1
all-trans-retinol
all-trans-retinyl alcohol
all-trans-vitamin A alcohol
b-Retinol
beta-Retinol
retinol
tROL
trans-Retinol
trans-Retinol acid (Vitamin A)
trans-Vitamin A alcohol
trans-retinol
3
acetic acidapproved, NutraceuticalPhase 111264-19-7176
Synonyms:
Acetate
Acetic acid, glacial
Aceticum acidum
Essigsäure
Ethanoat
Ethanoate
Ethanoic acid
Ethoic acid
Ethylate
 
Ethylic acid
Glacial acetate
Glacial acetic acid
HOAc
Kyselina octova
Methanecarboxylate
Methanecarboxylic acid
Vinegar
Vinegar acid
acide acétique
4Retinol palmitatePhase 1492
5Trace ElementsPhase 16001
6
Retinol acetatePhase 1107127-47-910245972
Synonyms:
13-cis-Retinyl acetate
Acetateall-trans-Retinol
Acetic acid, retinyl ester
All-trans-Retinyl acetate
All-trans-retinol acetate
All-trans-retinyl acetate
All-trans-retinylacetate
All-trans-vitamin a acetate
Crystalets
Davitan A 650
Myvak (van)
Myvax (van)
O(15)-Acetylretinol
O~15~-Acetyl-retinol
O~15~-Acetylretinol
 
RETINOL ACETATE (SEE RETINOIDPROJECTS 1 AND 3)
Retinol acetate
Retinol acetate (JP15)
Retinol, acetate
Retinol, acetate, all-trans- (8CI)
Retinol, acetate, labeled with tritium
Retinyl acetate
Trans-retinyl acetate
Trans-vitamin a acetate
Vitamin A acetate
Vitamin A1 acetate
Vitamin a acetate (tritiated)
Vitamin a acetate (van)
Vitamin a alcohol acetate
Vitamin a ester
Vitamin a, acetate
7VitaminsPhase 15282
8Protective AgentsPhase 17443
9Adjuvants, ImmunologicPhase 12554
10MicronutrientsPhase 16001
11retinolNutraceuticalPhase 1492
12LecithinNutraceuticalPhase 174

Interventional clinical trials:

idNameStatusNCT IDPhase
1Safety and Efficacy Study in Subjects With Leber Congenital AmaurosisActive, not recruitingNCT00999609Phase 3
2Clinical Gene Therapy Protocol for the Treatment of Retinal Dystrophy Caused by Defects in RPE65CompletedNCT01496040Phase 1, Phase 2
3Safety Study of RPE65 Gene Therapy to Treat Leber Congenital AmaurosisCompletedNCT00643747Phase 1, Phase 2
4Study to Evaluate QR-110 in Subjects With Leber's Congenital Amaurosis (LCA) Due to the c.2991+1655A>G Mutation (p.Cys998X) in the CEP290 GeneNot yet recruitingNCT03140969Phase 1, Phase 2
5Clinical Trial of Gene Therapy for Leber Congenital Amaurosis Caused by RPE65 MutationsUnknown statusNCT00821340Phase 1
6Repeated Treatments of QLT091001 in Subjects With Leber Congenital Amaurosis or Retinitis Pigmentosa (Extension of Study RET IRD 01)CompletedNCT01521793Phase 1
7Clinical Trial of Gene Therapy for the Treatment of Leber Congenital Amaurosis (LCA)RecruitingNCT02781480Phase 1
8Phase I Trial of Gene Vector to Patients With Retinal Disease Due to RPE65 MutationsActive, not recruitingNCT00481546Phase 1
9Safety Study in Subjects With Leber Congenital AmaurosisActive, not recruitingNCT00516477Phase 1
10Genetic Decryption of Leber Congenital Amaurosis (LCA) in a Large Cohort of Independent Families.CompletedNCT02970266

Search NIH Clinical Center for Leber Congenital Amaurosis 3

Genetic Tests for Leber Congenital Amaurosis 3

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Genetic tests related to Leber Congenital Amaurosis 3:

id Genetic test Affiliating Genes
1 Leber Congenital Amaurosis 327

Anatomical Context for Leber Congenital Amaurosis 3

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MalaCards organs/tissues related to Leber Congenital Amaurosis 3:

36
Retina, Eye

Publications for Leber Congenital Amaurosis 3

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Variations for Leber Congenital Amaurosis 3

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Clinvar genetic disease variations for Leber Congenital Amaurosis 3:

5
id Gene Variation Type Significance SNP ID Assembly Location
1SPATA7NM_ 018418.4(SPATA7): c.322C> T (p.Arg108Ter)SNVPathogenic/ Likely pathogenicrs80044281GRCh37Chr 14, 88883138: 88883138
2SPATA7NM_ 018418.4(SPATA7): c.960dupA (p.Pro321Thrfs)duplicationPathogenicrs386834241GRCh37Chr 14, 88895739: 88895739
3SPATA7NM_ 018418.4(SPATA7): c.1183C> T (p.Arg395Ter)SNVPathogenicrs75895925GRCh37Chr 14, 88903909: 88903909
4SPATA7NM_ 018418.4(SPATA7): c.1395delA (p.Gln465Hisfs)deletionPathogenicrs386834243GRCh37Chr 14, 88904361: 88904361
5SPATA7NM_ 018418.4(SPATA7): c.94+2T> CSNVLikely pathogenicrs786204787GRCh37Chr 14, 88857801: 88857801
6SPATA7SPATA7, 4-BP DEL, 265CTCAdeletionPathogenic
7SPATA7SPATA7, 3-BP DEL, 1227CACdeletionPathogenic
8SPATA7NM_ 018418.4(SPATA7): c.253C> T (p.Arg85Ter)SNVPathogenicrs140287375GRCh37Chr 14, 88883069: 88883069

Expression for genes affiliated with Leber Congenital Amaurosis 3

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Search GEO for disease gene expression data for Leber Congenital Amaurosis 3.

Pathways for genes affiliated with Leber Congenital Amaurosis 3

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GO Terms for genes affiliated with Leber Congenital Amaurosis 3

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Cellular components related to Leber Congenital Amaurosis 3 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1axonemeGO:000593010.1RPGRIP1, SPATA7
2ciliumGO:00059299.8LCA5, RPGRIP1
3cell projectionGO:00429959.5LCA5, RPGRIP1, SPATA7
4photoreceptor connecting ciliumGO:00323919.4RPGRIP1, SPATA7

Biological processes related to Leber Congenital Amaurosis 3 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1photoreceptor cell maintenanceGO:004549410.2RDH12, SPATA7
2response to stimulusGO:00508969.5RDH12, RPGRIP1, SPATA7
3visual perceptionGO:00076018.9RDH12, RPGRIP1, SPATA7

Sources for Leber Congenital Amaurosis 3

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet