MCID: LBR011
MIFTS: 34

Leber Congenital Amaurosis 16

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

Aliases & Classifications for Leber Congenital Amaurosis 16

MalaCards integrated aliases for Leber Congenital Amaurosis 16:

Name: Leber Congenital Amaurosis 16 57 12 53 75 29 13 6 15 73
Lca16 57 12 53 75
Leber Congenital Amaurosis, Type 16 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
leber congenital amaurosis 16:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Leber Congenital Amaurosis 16

UniProtKB/Swiss-Prot : 75 Leber congenital amaurosis 16: 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.

MalaCards based summary : Leber Congenital Amaurosis 16, also known as lca16, is related to vitreoretinal degeneration and leber congenital amaurosis, and has symptoms including photophobia An important gene associated with Leber Congenital Amaurosis 16 is KCNJ13 (Potassium Voltage-Gated Channel Subfamily J Member 13), and among its related pathways/superpathways are Transmission across Chemical Synapses and Vascular smooth muscle contraction. Affiliated tissues include retina and eye, and related phenotypes are strabismus and visual impairment

Disease Ontology : 12 A Leber congenital amaurosis that has material basis in mutation in the KCNJ13 gene on chromosome 2q37.

Description from OMIM: 614186

Related Diseases for Leber Congenital Amaurosis 16

Symptoms & Phenotypes for Leber Congenital Amaurosis 16

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
cataract
photophobia
poor visual acuity
strabismus (in some patients)
more

Clinical features from OMIM:

614186

Human phenotypes related to Leber Congenital Amaurosis 16:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 strabismus 32 occasional (7.5%) HP:0000486
2 visual impairment 32 HP:0000505
3 cataract 32 HP:0000518
4 optic disc pallor 32 HP:0000543
5 photophobia 32 HP:0000613
6 nystagmus 32 HP:0000639
7 nyctalopia 32 HP:0000662
8 reduced visual acuity 32 HP:0007663

UMLS symptoms related to Leber Congenital Amaurosis 16:


photophobia

Drugs & Therapeutics for Leber Congenital Amaurosis 16

Search Clinical Trials , NIH Clinical Center for Leber Congenital Amaurosis 16

Genetic Tests for Leber Congenital Amaurosis 16

Genetic tests related to Leber Congenital Amaurosis 16:

# Genetic test Affiliating Genes
1 Leber Congenital Amaurosis 16 29 KCNJ13

Anatomical Context for Leber Congenital Amaurosis 16

MalaCards organs/tissues related to Leber Congenital Amaurosis 16:

41
Retina, Eye

Publications for Leber Congenital Amaurosis 16

Variations for Leber Congenital Amaurosis 16

UniProtKB/Swiss-Prot genetic disease variations for Leber Congenital Amaurosis 16:

75
# Symbol AA change Variation ID SNP ID
1 KCNJ13 p.Gln117Arg VAR_066488
2 KCNJ13 p.Leu241Pro VAR_066490 rs143607153

ClinVar genetic disease variations for Leber Congenital Amaurosis 16:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNJ13 NM_002242.4(KCNJ13): c.496C> T (p.Arg166Ter) single nucleotide variant Pathogenic rs387906858 GRCh37 Chromosome 2, 233633488: 233633488
2 KCNJ13 NM_002242.4(KCNJ13): c.496C> T (p.Arg166Ter) single nucleotide variant Pathogenic rs387906858 GRCh38 Chromosome 2, 232768778: 232768778
3 KCNJ13 NM_002242.4(KCNJ13): c.722T> C (p.Leu241Pro) single nucleotide variant Pathogenic rs143607153 GRCh37 Chromosome 2, 233633262: 233633262
4 KCNJ13 NM_002242.4(KCNJ13): c.722T> C (p.Leu241Pro) single nucleotide variant Pathogenic rs143607153 GRCh38 Chromosome 2, 232768552: 232768552
5 KCNJ13 NM_002242.4(KCNJ13): c.359T> C (p.Ile120Thr) single nucleotide variant Pathogenic/Likely pathogenic rs786205550 GRCh37 Chromosome 2, 233635714: 233635714
6 KCNJ13 NM_002242.4(KCNJ13): c.359T> C (p.Ile120Thr) single nucleotide variant Pathogenic/Likely pathogenic rs786205550 GRCh38 Chromosome 2, 232771004: 232771004
7 KCNJ13 NM_002242.4(KCNJ13): c.458C> T (p.Thr153Ile) single nucleotide variant Likely pathogenic rs863224884 GRCh37 Chromosome 2, 233635615: 233635615
8 KCNJ13 NM_002242.4(KCNJ13): c.458C> T (p.Thr153Ile) single nucleotide variant Likely pathogenic rs863224884 GRCh38 Chromosome 2, 232770905: 232770905
9 KCNJ13 NM_002242.4(KCNJ13): c.158G> A (p.Trp53Ter) single nucleotide variant Pathogenic rs869320631 GRCh37 Chromosome 2, 233635915: 233635915
10 KCNJ13 NM_002242.4(KCNJ13): c.158G> A (p.Trp53Ter) single nucleotide variant Pathogenic rs869320631 GRCh38 Chromosome 2, 232771205: 232771205

Expression for Leber Congenital Amaurosis 16

Search GEO for disease gene expression data for Leber Congenital Amaurosis 16.

Pathways for Leber Congenital Amaurosis 16

GO Terms for Leber Congenital Amaurosis 16

Cellular components related to Leber Congenital Amaurosis 16 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.86 GIGYF2 KCNJ1 KCNJ12 KCNJ13 KCNJ15 KCNJ3
2 integral component of membrane GO:0016021 9.56 GIGYF2 KCNJ1 KCNJ12 KCNJ13 KCNJ15 KCNJ3
3 T-tubule GO:0030315 9.16 KCNJ3 KCNJ5
4 voltage-gated potassium channel complex GO:0008076 8.92 KCNJ1 KCNJ3 KCNJ5 KCNJ8

Biological processes related to Leber Congenital Amaurosis 16 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.8 KCNJ1 KCNJ12 KCNJ13 KCNJ15 KCNJ3 KCNJ5
2 ion transmembrane transport GO:0034220 9.78 KCNJ1 KCNJ13 KCNJ15 KCNJ8
3 potassium ion transmembrane transport GO:0071805 9.71 KCNJ1 KCNJ13 KCNJ15 KCNJ8
4 regulation of ion transmembrane transport GO:0034765 9.7 KCNJ1 KCNJ12 KCNJ13 KCNJ15 KCNJ3 KCNJ5
5 potassium ion import across plasma membrane GO:1990573 9.54 KCNJ3 KCNJ5 KCNJ8
6 multicellular organism growth GO:0035264 9.51 GIGYF2 WDTC1
7 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.5 KCNJ3 KCNJ5 KCNJ8
8 potassium ion transport GO:0006813 9.5 KCNJ1 KCNJ12 KCNJ13 KCNJ15 KCNJ3 KCNJ5
9 regulation of heart rate by cardiac conduction GO:0086091 9.49 KCNJ3 KCNJ5
10 membrane repolarization during atrial cardiac muscle cell action potential GO:0098914 9.46 KCNJ3 KCNJ5
11 ventricular cardiac muscle cell membrane repolarization GO:0099625 9.43 KCNJ3 KCNJ5
12 potassium ion import GO:0010107 9.17 KCNJ1 KCNJ12 KCNJ13 KCNJ15 KCNJ3 KCNJ5

Molecular functions related to Leber Congenital Amaurosis 16 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.5 KCNJ1 KCNJ12 KCNJ13 KCNJ15 KCNJ3 KCNJ5
2 G-protein activated inward rectifier potassium channel activity GO:0015467 9.46 KCNJ12 KCNJ15 KCNJ3 KCNJ5
3 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.43 KCNJ3 KCNJ5 KCNJ8
4 ATP-activated inward rectifier potassium channel activity GO:0015272 9.37 KCNJ1 KCNJ8
5 voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization GO:0086089 9.32 KCNJ3 KCNJ5
6 inward rectifier potassium channel activity GO:0005242 9.17 KCNJ1 KCNJ12 KCNJ13 KCNJ15 KCNJ3 KCNJ5

Sources for Leber Congenital Amaurosis 16

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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