CTRCT13
MCID: CTR107
MIFTS: 17

Cataract 13 with Adult I Phenotype (CTRCT13)

Categories: Blood diseases, Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Cataract 13 with Adult I Phenotype

MalaCards integrated aliases for Cataract 13 with Adult I Phenotype:

Name: Cataract 13 with Adult I Phenotype 57 12 29 6 73
Ctrct13 57 12 75
Cataract 13, with Adult I Phenotype 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
cataract phenotype is seen in individuals with mutation in the igntb transcript of gcnt2


HPO:

32
cataract 13 with adult i phenotype:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 116700
Disease Ontology 12 DOID:0110242
ICD10 33 Q12.0
MeSH 44 D002386
UMLS 73 C3805373

Summaries for Cataract 13 with Adult I Phenotype

OMIM : 57 The i and I antigens of the I blood group system (110800) are carbohydrate structures carried on glycolipids and glycoproteins and are characterized as straight or branched glycochains composed of repeating N-acetyllactosamine (LacNAc) units, respectively. Conversion of i antigen into an I-active structure requires the activity of the I-branching enzyme, beta-1,6-N-acetylglucosaminyltransferase (GCNT2; 600429), which adds the decisive GlcNAc-beta-1-6 branch onto the straight poly-LacNAc chains. Expression of the i and I antigens on red blood cells (RBCs) is reciprocal and developmentally regulated. Adult human RBCs predominantly express I antigen, whereas fetal and neonatal RBCs predominantly express i antigen. After birth, I antigen levels increase gradually as i antigen levels fall, with the normal Ii status of adult RBCs reached after about 13 to 20 months. Mutations that specifically affect 1 of the 3 variants produced by the GCNT2 gene cause the rare adult i phenotype (see 110800), in which adult RBCs are rich in i antigen and contain low levels of I antigen. Mutations that eliminate all 3 GCNT2 variants cause the adult i phenotype with congenital cataract (review by Yu and Lin, 2011). (116700)

MalaCards based summary : Cataract 13 with Adult I Phenotype, also known as ctrct13, is related to blood group, i system. An important gene associated with Cataract 13 with Adult I Phenotype is GCNT2 (Glucosaminyl (N-Acetyl) Transferase 2 (I Blood Group)). Affiliated tissues include eye, and related phenotype is congenital cataract.

Disease Ontology : 12 A cataract that has material basis in homozygous or compound heterozygous mutation in the GCNT2 gene on chromosome 6p24.

UniProtKB/Swiss-Prot : 75 Cataract 13, with adult i phenotype: An opacification of the crystalline lens of the eye that 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. CTRCT13 is associated with the rare adult i phenotype, in which adult red blood cells are rich in i antigen and contain low levels of I antigen.

Related Diseases for Cataract 13 with Adult I Phenotype

Diseases related to Cataract 13 with Adult I Phenotype via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 blood group, i system 11.1

Symptoms & Phenotypes for Cataract 13 with Adult I Phenotype

Symptoms via clinical synopsis from OMIM:

57
Hematology:
adult i phenotype

Head And Neck Eyes:
cataract, congenital


Clinical features from OMIM:

116700

Human phenotypes related to Cataract 13 with Adult I Phenotype:

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

Drugs & Therapeutics for Cataract 13 with Adult I Phenotype

Search Clinical Trials , NIH Clinical Center for Cataract 13 with Adult I Phenotype

Genetic Tests for Cataract 13 with Adult I Phenotype

Genetic tests related to Cataract 13 with Adult I Phenotype:

# Genetic test Affiliating Genes
1 Cataract 13 with Adult I Phenotype 29 GCNT2

Anatomical Context for Cataract 13 with Adult I Phenotype

MalaCards organs/tissues related to Cataract 13 with Adult I Phenotype:

41
Eye

Publications for Cataract 13 with Adult I Phenotype

Variations for Cataract 13 with Adult I Phenotype

UniProtKB/Swiss-Prot genetic disease variations for Cataract 13 with Adult I Phenotype:

75
# Symbol AA change Variation ID SNP ID
1 GCNT2 p.Gly350Glu VAR_073829 rs56141211
2 GCNT2 p.Arg385His VAR_073830 rs55940927

ClinVar genetic disease variations for Cataract 13 with Adult I Phenotype:

6 (show all 19)
# Gene Variation Type Significance SNP ID Assembly Location
1 GCNT2 NM_001491.2(GCNT2): c.259_262delTCTA (p.Ser87Argfs) deletion Uncertain significance rs1085307067 GRCh37 Chromosome 6, 10556915: 10556918
2 GCNT2 NM_001491.2(GCNT2): c.259_262delTCTA (p.Ser87Argfs) deletion Uncertain significance rs1085307067 GRCh38 Chromosome 6, 10556682: 10556685
3 GCNT2 NM_001491.2(GCNT2): c.710_711insT (p.Lys237Asnfs) insertion Pathogenic rs949335475 GRCh38 Chromosome 6, 10557133: 10557134
4 GCNT2 NM_001491.2(GCNT2): c.710_711insT (p.Lys237Asnfs) insertion Pathogenic rs949335475 GRCh37 Chromosome 6, 10557366: 10557367
5 GCNT2 NM_001491.2(GCNT2): c.60delC (p.Ile20Metfs) deletion Pathogenic GRCh38 Chromosome 6, 10556483: 10556483
6 GCNT2 NM_001491.2(GCNT2): c.60delC (p.Ile20Metfs) deletion Pathogenic GRCh37 Chromosome 6, 10556716: 10556716
7 GCNT2 NM_001491.2(GCNT2): c.577T> G (p.Phe193Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 6, 10557000: 10557000
8 GCNT2 NM_001491.2(GCNT2): c.577T> G (p.Phe193Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 6, 10557233: 10557233
9 GCNT2 NM_001491.2(GCNT2): c.1094A> C (p.Lys365Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 6, 10626498: 10626498
10 GCNT2 NM_001491.2(GCNT2): c.1094A> C (p.Lys365Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 6, 10626731: 10626731
11 GCNT2 NM_001491.2(GCNT2): c.330G> A (p.Arg110=) single nucleotide variant Conflicting interpretations of pathogenicity rs35537333 GRCh38 Chromosome 6, 10556753: 10556753
12 GCNT2 NM_001491.2(GCNT2): c.330G> A (p.Arg110=) single nucleotide variant Conflicting interpretations of pathogenicity rs35537333 GRCh37 Chromosome 6, 10556986: 10556986
13 GCNT2 NM_001491.2(GCNT2): c.687T> C (p.Tyr229=) single nucleotide variant Conflicting interpretations of pathogenicity rs35318346 GRCh38 Chromosome 6, 10557110: 10557110
14 GCNT2 NM_001491.2(GCNT2): c.687T> C (p.Tyr229=) single nucleotide variant Conflicting interpretations of pathogenicity rs35318346 GRCh37 Chromosome 6, 10557343: 10557343
15 GCNT2 NM_001491.2(GCNT2): c.-117_*41del deletion Pathogenic
16 GCNT2 NM_001491.2(GCNT2): c.1148G> A (p.Arg383His) single nucleotide variant Pathogenic rs55940927 GRCh38 Chromosome 6, 10626552: 10626552
17 GCNT2 NM_001491.2(GCNT2): c.1148G> A (p.Arg383His) single nucleotide variant Pathogenic rs55940927 GRCh37 Chromosome 6, 10626785: 10626785
18 GCNT2 NM_001491.2(GCNT2): c.1043G> A (p.Gly348Glu) single nucleotide variant Pathogenic rs56141211 GRCh38 Chromosome 6, 10626447: 10626447
19 GCNT2 NM_001491.2(GCNT2): c.1043G> A (p.Gly348Glu) single nucleotide variant Pathogenic rs56141211 GRCh37 Chromosome 6, 10626680: 10626680

Expression for Cataract 13 with Adult I Phenotype

Search GEO for disease gene expression data for Cataract 13 with Adult I Phenotype.

Pathways for Cataract 13 with Adult I Phenotype

GO Terms for Cataract 13 with Adult I Phenotype

Sources for Cataract 13 with Adult I Phenotype

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