II
MCID: BLD140
MIFTS: 29

Blood Group, I System (II)

Categories: Blood diseases, Genetic diseases

Aliases & Classifications for Blood Group, I System

MalaCards integrated aliases for Blood Group, I System:

Name: Blood Group, I System 58
I Blood Group System 58 30 6
Adult I Phenotype Without Cataract 58
Ii Blood Group System 58
Ii 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
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
adult i phenotype can be associated with congenital cataract (see )


HPO:

33
blood group, i system:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 110800
MedGen 43 C0020717
SNOMED-CT via HPO 70 263681008

Summaries for Blood Group, I System

OMIM : 58 The i and I antigens of the I blood group system 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, 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 (CTRCT13; 116700) (review by Yu and Lin, 2011). (110800)

MalaCards based summary : Blood Group, I System, also known as i blood group system, is related to bare lymphocyte syndrome, type ii and mucopolysaccharidosis, type ii. An important gene associated with Blood Group, I System is GCNT2 (Glucosaminyl (N-Acetyl) Transferase 2 (I Blood Group)). Affiliated tissues include heart, breast and bone, and related phenotype is blood group antigen abnormality.

Related Diseases for Blood Group, I System

Diseases in the Blood Group--Ul System family:

Blood Group, I System

Diseases related to Blood Group, I System via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 3529)
# Related Disease Score Top Affiliating Genes
1 bare lymphocyte syndrome, type ii 12.6
2 mucopolysaccharidosis, type ii 12.6
3 carnitine palmitoyltransferase ii deficiency, infantile 12.5
4 mucolipidosis ii alpha/beta 12.5
5 transcobalamin ii deficiency 12.5
6 glycogen storage disease ii 12.5
7 mitochondrial complex ii deficiency 12.4
8 hyperaldosteronism, familial, type ii 12.4
9 anemia, congenital dyserythropoietic, type ii 12.4
10 isolated growth hormone deficiency, type ii 12.4
11 citrullinemia, type ii, adult-onset 12.4
12 chiari malformation type ii 12.4
13 osteogenesis imperfecta, type ii 12.4
14 dentin dysplasia, type ii 12.4
15 microcephalic osteodysplastic primordial dwarfism, type ii 12.4
16 achondrogenesis, type ii 12.4
17 autoimmune polyendocrine syndrome, type ii 12.4
18 albinism, oculocutaneous, type ii 12.4
19 heparin cofactor ii deficiency 12.4
20 carnitine palmitoyltransferase ii deficiency, lethal neonatal 12.3
21 crigler-najjar syndrome, type ii 12.3
22 carnitine palmitoyltransferase ii deficiency, myopathic, stress-induced 12.3
23 trichorhinophalangeal syndrome, type ii 12.3
24 xanthinuria, type ii 12.3
25 citrullinemia, type ii, neonatal-onset 12.3
26 tyrosinemia, type ii 12.3
27 apolipoprotein c-ii deficiency 12.3
28 gm1-gangliosidosis, type ii 12.3
29 gaucher disease, type ii 12.3
30 atelosteogenesis, type ii 12.3
31 focal cortical dysplasia, type ii 12.3
32 otopalatodigital syndrome, type ii 12.3
33 corticosterone methyloxidase type ii deficiency 12.3
34 pseudohypoparathyroidism, type ii 12.3
35 thanatophoric dysplasia, type ii 12.2
36 stickler syndrome, type ii 12.2
37 neurofibromatosis, type ii 12.2
38 progressive familial heart block, type ii 12.2
39 congenital disorder of glycosylation, type ii 12.2
40 distal hereditary motor neuropathy, type ii 12.2
41 cockayne syndrome type ii 12.2
42 complement component 8 deficiency, type ii 12.2
43 spinal muscular atrophy, type ii 12.2
44 lattice corneal dystrophy type ii 12.2
45 hereditary lymphedema ii 12.2
46 hyperoxaluria, primary, type ii 12.1
47 collagenopathy, types ii and xi 12.1
48 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type ii 12.1
49 mobitz type ii atrioventricular block 12.1
50 hyperprolinemia, type ii 12.1

Graphical network of the top 20 diseases related to Blood Group, I System:



Diseases related to Blood Group, I System

Symptoms & Phenotypes for Blood Group, I System

Human phenotypes related to Blood Group, I System:

33
# Description HPO Frequency HPO Source Accession
1 blood group antigen abnormality 33 HP:0010970

Symptoms via clinical synopsis from OMIM:

58
Hematology:
blood group ii phenotype
adult i phenotype

Clinical features from OMIM:

110800

Drugs & Therapeutics for Blood Group, I System

Search Clinical Trials , NIH Clinical Center for Blood Group, I System

Genetic Tests for Blood Group, I System

Genetic tests related to Blood Group, I System:

# Genetic test Affiliating Genes
1 I Blood Group System 30 GCNT2

Anatomical Context for Blood Group, I System

MalaCards organs/tissues related to Blood Group, I System:

42
Heart, Breast, Bone, Kidney, Lung, Brain, T Cells

Publications for Blood Group, I System

Articles related to Blood Group, I System:

# Title Authors Year
1
Association of ABO(H) and I blood group system development with von Willebrand factor and Factor VIII plasma levels in children and adolescents. ( 20210927 )
2010
2
The I blood group system of rhesus monkeys. ( 5002877 )
1971
3
I blood group system and its relationship to disease. ( 5638906 )
1968
4
I blood group system and its relation to other blood group systems. ( 6042106 )
1967
5
Anti-I-t: a new antibody of the I-blood-group system occurring in certain Melanesian sera. ( 5935991 )
1966

Variations for Blood Group, I System

ClinVar genetic disease variations for Blood Group, I System:

6
# 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

Expression for Blood Group, I System

Search GEO for disease gene expression data for Blood Group, I System.

Pathways for Blood Group, I System

GO Terms for Blood Group, I System

Sources for Blood Group, I System

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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