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 57 12 75 73
Cataract, Autosomal Recessive Congenital 5 57 29 13 6
Ctrct38 57 12 75
Catc5 57 12 75
Autosomal Recessive Congenital Cataract 5 12 75
Cataract, Autosomal Recessive Congenital 5; Catc5 57
Cataract 38, Autosomal Recessive 57
Cataract, Type 38 ) 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
cataract 38:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 614691
Disease Ontology 12 DOID:0110245
ICD10 33 Q12.0
MeSH 44 D002386
SNOMED-CT via HPO 69 258211005 609587005 79410001
UMLS 73 C3553494

Summaries for Cataract 38

UniProtKB/Swiss-Prot : 75 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 congenital 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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
congenital cataract


Clinical features from OMIM:

614691

Human phenotypes related to Cataract 38:

32
# Description HPO Frequency HPO Source Accession
1 congenital cataract 32 HP:0000519

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 29 AGK

Anatomical Context for Cataract 38

MalaCards organs/tissues related to Cataract 38:

41
Eye

Publications for Cataract 38

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_018238.3(AGK): c.101+5C> T single nucleotide variant Benign rs150421355 GRCh37 Chromosome 7, 141255372: 141255372
2 AGK NM_018238.3(AGK): c.101+5C> T single nucleotide variant Benign rs150421355 GRCh38 Chromosome 7, 141555572: 141555572
3 AGK NM_018238.3(AGK): c.424-3C> G single nucleotide variant Pathogenic rs766413410 GRCh37 Chromosome 7, 141315268: 141315268
4 AGK NM_018238.3(AGK): c.424-3C> G single nucleotide variant Pathogenic rs766413410 GRCh38 Chromosome 7, 141615468: 141615468
5 AGK NM_018238.3(AGK): c.17A> G (p.Lys6Arg) single nucleotide variant Benign/Likely benign rs148294392 GRCh37 Chromosome 7, 141255283: 141255283
6 AGK NM_018238.3(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_018238.3(AGK): c.416C> G (p.Thr139Arg) single nucleotide variant Likely benign rs144706178 GRCh37 Chromosome 7, 141313971: 141313971
10 AGK NM_018238.3(AGK): c.416C> G (p.Thr139Arg) single nucleotide variant Likely benign rs144706178 GRCh38 Chromosome 7, 141614171: 141614171
11 AGK NM_018238.3(AGK): c.1141_1142dup (p.Ser382Alafs) duplication Conflicting interpretations of pathogenicity GRCh37 Chromosome 7, 141352596: 141352597
12 AGK NM_018238.3(AGK): c.1141_1142dup (p.Ser382Alafs) duplication Conflicting interpretations of pathogenicity GRCh38 Chromosome 7, 141652796: 141652797
13 AGK NM_018238.3(AGK): c.257C> G (p.Pro86Arg) single nucleotide variant Uncertain significance rs762680550 GRCh38 Chromosome 7, 141601240: 141601240
14 AGK NM_018238.3(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 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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