II
MCID: BLD140
MIFTS: 23

Blood Group, I System (II)

Categories: Genetic diseases, Blood diseases

Aliases & Classifications for Blood Group, I System

MalaCards integrated aliases for Blood Group, I System:

Name: Blood Group, I System 57
I Blood Group System 57 29 6
Adult I Phenotype Without Cataract 57
Ii Blood Group System 57
Ii 57

Characteristics:

OMIM:

57
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:

32
blood group, i system:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 110800
MedGen 42 C0020717
SNOMED-CT via HPO 69 263681008

Summaries for Blood Group, I System

OMIM : 57 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)). 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 2838)
# Related Disease Score Top Affiliating Genes
1 bare lymphocyte syndrome, type ii 12.4
2 mucopolysaccharidosis, type ii 12.4
3 carnitine palmitoyltransferase ii deficiency, infantile 12.3
4 mucolipidosis ii alpha/beta 12.3
5 transcobalamin ii deficiency 12.3
6 glycogen storage disease ii 12.3
7 mitochondrial complex ii deficiency 12.2
8 anemia, congenital dyserythropoietic, type ii 12.2
9 hyperaldosteronism, familial, type ii 12.2
10 citrullinemia, type ii, adult-onset 12.2
11 dentin dysplasia, type ii 12.2
12 osteogenesis imperfecta, type ii 12.2
13 microcephalic osteodysplastic primordial dwarfism, type ii 12.2
14 chiari malformation type ii 12.2
15 crigler-najjar syndrome, type ii 12.2
16 spinal muscular atrophy, type ii 12.2
17 heparin cofactor ii deficiency 12.2
18 achondrogenesis, type ii 12.1
19 autoimmune polyendocrine syndrome, type ii 12.1
20 trichorhinophalangeal syndrome, type ii 12.1
21 xanthinuria, type ii 12.1
22 tyrosinemia, type ii 12.1
23 apolipoprotein c-ii deficiency 12.1
24 gm1-gangliosidosis, type ii 12.1
25 otopalatodigital syndrome, type ii 12.1
26 atelosteogenesis, type ii 12.1
27 focal cortical dysplasia, type ii 12.1
28 corticosterone methyloxidase type ii deficiency 12.1
29 pseudohypoparathyroidism, type ii 12.1
30 albinism, oculocutaneous, type ii 12.0
31 thanatophoric dysplasia, type ii 12.0
32 carnitine palmitoyltransferase ii deficiency, lethal neonatal 12.0
33 stickler syndrome, type ii 12.0
34 neurofibromatosis, type ii 12.0
35 isolated growth hormone deficiency, type ii 12.0
36 carnitine palmitoyltransferase ii deficiency, myopathic, stress-induced 12.0
37 citrullinemia, type ii, neonatal-onset 12.0
38 congenital disorder of glycosylation, type ii 12.0
39 distal hereditary motor neuropathy, type ii 12.0
40 progressive familial heart block, type ii 12.0
41 cockayne syndrome type ii 12.0
42 gaucher disease, type ii 12.0
43 complement component 8 deficiency, type ii 12.0
44 lattice corneal dystrophy type ii 12.0
45 lymphedema, hereditary, ii 12.0
46 collagenopathy, types ii and xi 11.9
47 mobitz type ii atrioventricular block 11.9
48 hyperprolinemia, type ii 11.9
49 keratosis palmoplantaris striata ii 11.8
50 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type ii 11.8

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

Symptoms via clinical synopsis from OMIM:

57
Hematology:
blood group ii phenotype
adult i phenotype


Clinical features from OMIM:

110800

Human phenotypes related to Blood Group, I System:

32
# Description HPO Frequency HPO Source Accession
1 blood group antigen abnormality 32 HP:0010970

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 29 GCNT2

Anatomical Context for Blood Group, I System

Publications for Blood Group, I System

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 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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