CTRCT38
MCID: CTR183
MIFTS: 20

Cataract 38 (CTRCT38)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Oral diseases, Rare diseases

Aliases & Classifications for Cataract 38

MalaCards integrated aliases for Cataract 38:

Name: Cataract 38 58 12 76 74
Cataract, Autosomal Recessive Congenital 5 58 30 13 6
Ctrct38 58 12 76
Catc5 58 12 76
Autosomal Recessive Congenital Cataract 5 12 76
Cataract, Autosomal Recessive Congenital 5; Catc5 58
Cataract 38, Autosomal Recessive 58
Cataract, Type 38 ) 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
cataract 38:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110245
OMIM 58 614691
MeSH 45 D002386
ICD10 34 Q12.0
SNOMED-CT via HPO 70 258211005 609587005 79410001
UMLS 74 C3553494

Summaries for Cataract 38

UniProtKB/Swiss-Prot : 76 Cataract 38: An opacification of the crystalline lens of the eye becoming evident at birth. It frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function.

MalaCards based summary : Cataract 38, is also known as cataract, autosomal recessive congenital 5. An important gene associated with Cataract 38 is AGK (Acylglycerol Kinase). Affiliated tissues include eye, and related phenotype is developmental cataract.

Disease Ontology : 12 A cataract that has material basis in homozygous mutation in the AGK gene on chromosome 7q34.

Description from OMIM: 614691

Symptoms & Phenotypes for Cataract 38

Human phenotypes related to Cataract 38:

33
# Description HPO Frequency HPO Source Accession
1 developmental cataract 33 HP:0000519

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
congenital cataract

Clinical features from OMIM:

614691

Drugs & Therapeutics for Cataract 38

Search Clinical Trials , NIH Clinical Center for Cataract 38

Genetic Tests for Cataract 38

Genetic tests related to Cataract 38:

# Genetic test Affiliating Genes
1 Cataract, Autosomal Recessive Congenital 5 30 AGK

Anatomical Context for Cataract 38

MalaCards organs/tissues related to Cataract 38:

42
Eye

Publications for Cataract 38

Articles related to Cataract 38:

# Title Authors Year
1
Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus. ( 22415731 )
2012

Variations for Cataract 38

ClinVar genetic disease variations for Cataract 38:

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 AGK NM_018238.4(AGK): c.101+5C> T single nucleotide variant Benign rs150421355 GRCh37 Chromosome 7, 141255372: 141255372
2 AGK NM_018238.4(AGK): c.101+5C> T single nucleotide variant Benign rs150421355 GRCh38 Chromosome 7, 141555572: 141555572
3 AGK NM_018238.4(AGK): c.424-3C> G single nucleotide variant Pathogenic rs766413410 GRCh37 Chromosome 7, 141315268: 141315268
4 AGK NM_018238.4(AGK): c.424-3C> G single nucleotide variant Pathogenic rs766413410 GRCh38 Chromosome 7, 141615468: 141615468
5 AGK NM_018238.4(AGK): c.17A> G (p.Lys6Arg) single nucleotide variant Benign/Likely benign rs148294392 GRCh37 Chromosome 7, 141255283: 141255283
6 AGK NM_018238.4(AGK): c.17A> G (p.Lys6Arg) single nucleotide variant Benign/Likely benign rs148294392 GRCh38 Chromosome 7, 141555483: 141555483
7 AGK NM_018238.3(AGK): c.803C> A (p.Thr268Asn) single nucleotide variant Uncertain significance rs142779190 GRCh37 Chromosome 7, 141341124: 141341124
8 AGK NM_018238.3(AGK): c.803C> A (p.Thr268Asn) single nucleotide variant Uncertain significance rs142779190 GRCh38 Chromosome 7, 141641324: 141641324
9 AGK NM_018238.4(AGK): c.416C> G (p.Thr139Arg) single nucleotide variant Likely benign rs144706178 GRCh37 Chromosome 7, 141313971: 141313971
10 AGK NM_018238.4(AGK): c.416C> G (p.Thr139Arg) single nucleotide variant Likely benign rs144706178 GRCh38 Chromosome 7, 141614171: 141614171
11 AGK NM_018238.4(AGK): c.1141_1142dup (p.Ser382Alafs) duplication Conflicting interpretations of pathogenicity rs1554405928 GRCh37 Chromosome 7, 141352596: 141352597
12 AGK NM_018238.4(AGK): c.1141_1142dup (p.Ser382Alafs) duplication Conflicting interpretations of pathogenicity rs1554405928 GRCh38 Chromosome 7, 141652796: 141652797
13 AGK NM_018238.4(AGK): c.257C> G (p.Pro86Arg) single nucleotide variant Uncertain significance rs762680550 GRCh38 Chromosome 7, 141601240: 141601240
14 AGK NM_018238.4(AGK): c.257C> G (p.Pro86Arg) single nucleotide variant Uncertain significance rs762680550 GRCh37 Chromosome 7, 141301040: 141301040

Expression for Cataract 38

Search GEO for disease gene expression data for Cataract 38.

Pathways for Cataract 38

GO Terms for Cataract 38

Sources for Cataract 38

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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