CTRCT13
MCID: CTR107
MIFTS: 23

Cataract 13 with Adult I Phenotype (CTRCT13)

Categories: Blood diseases, Eye diseases, Genetic diseases, Neuronal 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 70
Ctrct13 57 12 72
Cataract 13, with Adult I Phenotype 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
cataract 13 with adult i phenotype:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110242
OMIM® 57 116700
OMIM Phenotypic Series 57 PS116200
MeSH 44 D002386
ICD10 32 Q12.0
SNOMED-CT via HPO 68 258211005 609587005 79410001
UMLS 70 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) (Updated 20-May-2021)

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 developmental 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 : 72 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 10.9

Symptoms & Phenotypes for Cataract 13 with Adult I Phenotype

Human phenotypes related to Cataract 13 with Adult I Phenotype:

31
# Description HPO Frequency HPO Source Accession
1 developmental cataract 31 HP:0000519

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Hematology:
adult i phenotype

Head And Neck Eyes:
cataract, congenital

Clinical features from OMIM®:

116700 (Updated 20-May-2021)

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:

40
Eye

Publications for Cataract 13 with Adult I Phenotype

Articles related to Cataract 13 with Adult I Phenotype:

# Title Authors PMID Year
1
Molecular basis of the adult i phenotype and the gene responsible for the expression of the human blood group I antigen. 57 6
11739194 2001
2
Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects. 6
25457163 2015
3
Genomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genes. 6
22935719 2012
4
Molecular genetics of the blood group I system and the regulation of I antigen expression during erythropoiesis and granulopoiesis. 57
21912254 2011
5
The molecular genetics of the human I locus and molecular background explain the partial association of the adult i phenotype with congenital cataracts. 57
12424189 2003
6
The i phenotype and congenital cataracts among Chinese in Taiwan. 57
1891797 1991
7
Reduced association between the Ii blood group and congenital cataracts in white patients. 57
3799539 1987
8
I-i- phenotype in a large kindred Indian family. 57
6710968 1984
9
A Caucasian family with the i phenotype and congenital cataracts. 57
6858080 1983
10
Phenotype i associated with congenital cataract in Japanese. 57
432928 1979

Variations for Cataract 13 with Adult I Phenotype

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

6 (show all 21)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GCNT2 NM_001491.2(GCNT2):c.-117_*41del Deletion Pathogenic 9130 GRCh37:
GRCh38:
2 GCNT2 NC_000006.12:g.(?_10528892)_(10557362_?)del Deletion Pathogenic 830705 GRCh37: 6:10529125-10557595
GRCh38:
3 GCNT2 NC_000006.12:g.(?_10556404)_(10626627_?)del Deletion Pathogenic 830756 GRCh37: 6:10556637-10626860
GRCh38:
4 GCNT2 NM_001491.2(GCNT2):c.1043G>A (p.Gly348Glu) SNV Pathogenic 9128 rs56141211 GRCh37: 6:10626680-10626680
GRCh38: 6:10626447-10626447
5 GCNT2 NM_001491.2(GCNT2):c.1148G>A (p.Arg383His) SNV Pathogenic 9129 rs55940927 GRCh37: 6:10626785-10626785
GRCh38: 6:10626552-10626552
6 GCNT2 NM_001491.2(GCNT2):c.710_711insT (p.Lys237fs) Insertion Pathogenic 571381 rs949335475 GRCh37: 6:10557366-10557367
GRCh38: 6:10557133-10557134
7 GCNT2 NM_145649.5(GCNT2):c.1046A>G (p.Tyr349Cys) SNV Pathogenic 844536 GRCh37: 6:10626677-10626677
GRCh38: 6:10626444-10626444
8 GCNT2 NM_145649.4(GCNT2):c.925+26647del Deletion Pathogenic 571035 rs1184095219 GRCh37: 6:10556716-10556716
GRCh38: 6:10556483-10556483
9 GCNT2 NM_145649.5(GCNT2):c.925+27491_925+27494del Deletion Pathogenic 1030460 GRCh37: 6:10557558-10557561
GRCh38: 6:10557325-10557328
10 GCNT2 NM_145649.5(GCNT2):c.925+26974del Deletion Pathogenic 1031986 GRCh37: 6:10557039-10557039
GRCh38: 6:10556806-10556806
11 GCNT2 NM_145649.5(GCNT2):c.926-34488del Deletion Pathogenic 1031987 GRCh37: 6:10587096-10587096
GRCh38: 6:10586863-10586863
12 GCNT2 NM_145649.5(GCNT2):c.925+27309A>G SNV Uncertain significance 1020672 GRCh37: 6:10557378-10557378
GRCh38: 6:10557145-10557145
13 GCNT2 NM_001491.2(GCNT2):c.577T>G (p.Phe193Val) SNV Uncertain significance 474042 rs1554129925 GRCh37: 6:10557233-10557233
GRCh38: 6:10557000-10557000
14 GCNT2 NM_001491.2(GCNT2):c.1094A>C (p.Lys365Thr) SNV Uncertain significance 474041 rs1554139314 GRCh37: 6:10626731-10626731
GRCh38: 6:10626498-10626498
15 GCNT2 NM_145649.4(GCNT2):c.925+26846_925+26849del Deletion Uncertain significance 225372 rs1085307067 GRCh37: 6:10556913-10556916
GRCh38: 6:10556680-10556683
16 GCNT2 NM_001491.2(GCNT2):c.330G>A (p.Arg110=) SNV Benign 354703 rs35537333 GRCh37: 6:10556986-10556986
GRCh38: 6:10556753-10556753
17 GCNT2 NM_145649.5(GCNT2):c.926-34857G>A SNV Benign 701963 rs56106312 GRCh37: 6:10586727-10586727
GRCh38: 6:10586494-10586494
18 GCNT2 NM_001491.2(GCNT2):c.517A>G (p.Arg173Gly) SNV Benign 354705 rs560637463 GRCh37: 6:10557173-10557173
GRCh38: 6:10556940-10556940
19 GCNT2 NM_001491.2(GCNT2):c.630T>G (p.Gly210=) SNV Benign 354706 rs148372193 GRCh37: 6:10557286-10557286
GRCh38: 6:10557053-10557053
20 GCNT2 NM_001491.2(GCNT2):c.687T>C (p.Tyr229=) SNV Benign 354707 rs35318346 GRCh37: 6:10557343-10557343
GRCh38: 6:10557110-10557110
21 GCNT2 NM_001491.2(GCNT2):c.741G>A (p.Ala247=) SNV Benign 258158 rs200874437 GRCh37: 6:10557397-10557397
GRCh38: 6:10557164-10557164

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

72
# Symbol AA change Variation ID SNP ID
1 GCNT2 p.Gly350Glu VAR_073829 rs56141211
2 GCNT2 p.Arg385His VAR_073830 rs55940927

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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