MCID: LBR013
MIFTS: 29

Leber Congenital Amaurosis 3 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 51 11 47 69 12 67
Leber Congenital Amaurosis Type 3 47 26 67
Lca3 11 47 69
 
Retinitis Pigmentosa, Juvenile, Autosomal Recessive 51
Amaurosis Congenita of Leber, Type 3 47

Characteristics:

HPO:

63
leber congenital amaurosis 3:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 604232
Disease Ontology11 DOID:0110331
ICD1029 H35.5
MeSH38 D057130

Summaries for Leber Congenital Amaurosis 3

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OMIM:51 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.

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

UniProtKB/Swiss-Prot:69 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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Symptoms for Leber Congenital Amaurosis 3

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Clinical features from OMIM:

604232

Human phenotypes related to Leber Congenital Amaurosis 3:

 63
id Description HPO Frequency HPO Source Accession
1 visual loss63 10% HP:0000572
2 nystagmus63 10% HP:0000639
3 nyctalopia63 2% HP:0000662
4 constriction of peripheral visual field63 HP:0001133

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 11)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
acetic acidapproved, NutraceuticalPhase 110764-19-7176
Synonyms:
ACETATE ion
Acetate
Acetic acid, glacial
Acetic acid, ion(1-)
Azetat
CH3-COO(-)
Ethanoat
Ethanoate
Ethanoic acid
 
Ethylate
Ethylic acid
Glacial acetate
Glacial acetic acid
Kyselina octova
MeCO2 anion
Methanecarboxylate
Methanecarboxylic acid
Vinegar
Vinegar acid
2
Vitamin Aapproved, nutraceutical, vet_approvedPhase 146811103-57-4, 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
Retinol acetatePhase 1103127-47-910245972
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
4Retinol palmitatePhase 1468
5Trace ElementsPhase 15802
6Protective AgentsPhase 17190
7Adjuvants, ImmunologicPhase 12484
8VitaminsPhase 15095
9MicronutrientsPhase 15802
10retinolNutraceuticalPhase 1468
11LecithinNutraceuticalPhase 170

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
4Clinical Trial of Gene Therapy for Leber Congenital Amaurosis Caused by RPE65 MutationsUnknown statusNCT00821340Phase 1
5Repeated Treatments of QLT091001 in Subjects With Leber Congenital Amaurosis or Retinitis Pigmentosa (Extension of Study RET IRD 01)CompletedNCT01521793Phase 1
6Clinical Trial of Gene Therapy for the Treatment of Leber Congenital Amaurosis (LCA)RecruitingNCT02781480Phase 1
7Phase I Trial of Gene Vector to Patients With Retinal Disease Due to RPE65 MutationsActive, not recruitingNCT00481546Phase 1
8Safety Study in Subjects With Leber Congenital AmaurosisActive, not recruitingNCT00516477Phase 1
9Genetic 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 326

Anatomical Context for Leber Congenital Amaurosis 3

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MalaCards organs/tissues related to Leber Congenital Amaurosis 3:

35
Retina, Eye

Animal Models for Leber Congenital Amaurosis 3 or affiliated genes

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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)SNVLikely pathogenic, 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, 265CTCAdeletionPathogenicChr na, -1: -1
7SPATA7SPATA7, 3-BP DEL, 1227CACdeletionPathogenicChr na, -1: -1
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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Sources for Leber Congenital Amaurosis 3

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet