MCID: BLD140
MIFTS: 37

Blood Group, I System

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 53
I Blood Group System 53 28
Adult I Phenotype Without Cataract 53
Ii Blood Group System 53
Ii 53

Characteristics:

OMIM:

53
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:

31
blood group, i system:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 110800
MedGen 39 C0020717
SNOMED-CT via HPO 65 263681008

Summaries for Blood Group, I System

OMIM : 53 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, and has symptoms including blood group antigen abnormality An important gene associated with Blood Group, I System is GCNT2 (Glucosaminyl (N-Acetyl) Transferase 2, I-Branching Enzyme (I Blood Group)).

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 2895)
# 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 12.2
7 mitochondrial complex ii deficiency 12.2
8 anemia, congenital dyserythropoietic, type ii 12.2
9 dentin dysplasia, type ii 12.2
10 chiari malformation type ii 12.2
11 microcephalic osteodysplastic primordial dwarfism, type ii 12.2
12 citrullinemia, type ii, adult-onset 12.2
13 crigler-najjar syndrome, type ii 12.1
14 spinal muscular atrophy, type ii 12.1
15 heparin cofactor ii deficiency 12.1
16 trichorhinophalangeal syndrome, type ii 12.1
17 xanthinuria, type ii 12.1
18 achondrogenesis, type ii 12.1
19 autoimmune polyendocrine syndrome, type ii 12.1
20 tyrosinemia, type ii 12.1
21 citrullinemia, type ii, neonatal-onset 12.1
22 osteogenesis imperfecta, type ii 12.1
23 gm1-gangliosidosis, type ii 12.1
24 atelosteogenesis, type ii 12.1
25 corticosterone methyloxidase type ii deficiency 12.1
26 focal cortical dysplasia, type ii 12.1
27 otopalatodigital syndrome, type ii 12.1
28 pseudohypoparathyroidism, type ii 12.1
29 stickler syndrome, type ii 12.1
30 neurofibromatosis, type ii 12.0
31 thanatophoric dysplasia, type ii 12.0
32 isolated growth hormone deficiency, type ii 12.0
33 carnitine palmitoyltransferase ii deficiency, lethal neonatal 12.0
34 albinism, oculocutaneous, type ii 12.0
35 carnitine palmitoyltransferase ii deficiency, myopathic, stress-induced 12.0
36 progressive familial heart block, type ii 12.0
37 cockayne syndrome type ii 12.0
38 gaucher disease, type ii 12.0
39 complement component 8 deficiency, type ii 12.0
40 congenital disorder of glycosylation, type ii 12.0
41 distal hereditary motor neuropathy, type ii 12.0
42 lattice corneal dystrophy type ii 12.0
43 lymphedema, hereditary, ii 12.0
44 hyperaldosteronism, familial, type ii 11.9
45 apolipoprotein c-ii deficiency 11.9
46 mobitz type ii atrioventricular block 11.9
47 hyperprolinemia, type ii 11.9
48 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type ii 11.8
49 keratosis palmoplantaris striata ii 11.8
50 type ii mixed cryoglobulinemia 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:

53
Hematology:
blood group ii phenotype
adult i phenotype


Clinical features from OMIM:

110800

Human phenotypes related to Blood Group, I System:

31
# Description HPO Frequency HPO Source Accession
1 blood group antigen abnormality 31 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 28 GCNT2

Anatomical Context for Blood Group, I System

Publications for Blood Group, I System

Articles related to Blood Group, I System:

(show top 50) (show all 24921)
# Title Authors Year
1
Chemotherapy of Diffuse Astrocytoma (WHO grade II) in Adults. ( 29393182 )
2018
2
Prevalence of Type II Diabetes Mellitus Among Patients with Hidradenitis Suppurativa in the United States. ( 29339240 )
2018
3
A novel dominant COL11A1 mutation in a child with Stickler syndrome type II is associated with recurrent fractures. ( 28971234 )
2018
4
Identity-by-descent refines mapping of candidate regions for preaxial polydactyly II /III in a large Chinese pedigree. ( 28690477 )
2018
5
Revision: prognostic impact of baseline glucose levels in acute myocardial infarction complicated by cardiogenic shock-a substudy of the IABP-SHOCK II-trial. ( 29423774 )
2018
6
Prognostic value of troponin in infants with hypoplastic left heart syndrome between Stage I and II of palliation. ( 29440831 )
2018
7
Inhibition of Marfan Syndrome Aortic Root Dilation by Losartan: Role of Angiotensin II Receptor Type 1-Independent Activation of Endothelial Function. ( 29433732 )
2018
8
Successful liver transplantation for homozygous protein C deficiency with a type II mutation using a heterozygous living related donor. ( 29218739 )
2018
9
Herpes Simplex Virus 1 Dramatically Alters Loading and Positioning of RNA Polymerase II on Host Genes Early in Infection. ( 29437966 )
2018
10
Sub-epithelial connective tissue graft for the management of Miller's class I and class II isolated gingival recession defect: A systematic review of the factors influencing the outcome. ( 29424485 )
2018
11
Deep lateral wall orbital decompression following strabismus surgery in patients with Type II ophthalmic Graves' disease. ( 29319400 )
2018
12
Altered Kinetics Properties of Erythrocyte Lactate Dehydrogenase in Type II Diabetic Patients and Its Implications for Lactic Acidosis. ( 29371768 )
2018
13
A Phase II, Randomized, Double-Blind Clinical Study Evaluating the Safety, Tolerability, and Efficacy of a Topical Minocycline Foam, FMX103, for the Treatment of Facial Papulopustular Rosacea. ( 29396702 )
2018
14
Correction: Phase Ib/II Study of the Safety and Efficacy of Combination Therapy with Multikinase VEGF Inhibitor Pazopanib and MEK Inhibitor Trametinib In Advanced Soft Tissue Sarcoma. ( 29339354 )
2018
15
Clinical Significance of DXA and HR-pQCT in Autosomal Dominant Osteopetrosis (ADO II). ( 29018903 )
2018
16
Effects of Arm Cycling Exercise in Spinal Muscular Atrophy Type II Patients: A Pilot Study. ( 29327642 )
2018
17
Development of a real-time wave field reconstruction TEM system (II): correction of coma aberration and 3-fold astigmatism, and real-time correction of 2-fold astigmatism. ( 29315401 )
2018
18
Riboflavin transporter deficiency mimicking mitochondrial myopathy caused by complex II deficiency. ( 29193829 )
2018
19
Demographics and Outcomes of Stage I-II Merkel Cell Carcinoma Treated with Mohs Micrographic Surgery Compared with Wide Local Excision in the National Cancer Data Base. ( 29408552 )
2018
20
Circulating microRNAs and treatment response in the Phase II SWOG S0925 study for patients with new metastatic hormone-sensitive prostate cancer. ( 29105802 )
2018
21
Phase II Study of Sorafenib Combined with Concurrent Hepatic Arterial Infusion of Oxaliplatin, 5-Fluorouracil and Leucovorin for Unresectable Hepatocellular Carcinoma with Major Portal Vein Thrombosis. ( 29327075 )
2018
22
Pulmonary Vascular Disease: Hemodynamic Assessment and Treatment Selection-Focus on Group II Pulmonary Hypertension. ( 29417467 )
2018
23
Investigational drugs in phase I and phase II clinical trials for hereditary angioedema. ( 29226721 )
2018
24
Appraisal of clinical practice guidelines on the management of hypothyroidism in pregnancy using the Appraisal of Guidelines for Research and Evaluation II instrument. ( 29445919 )
2018
25
The expression of MA1llerian inhibiting substance/anti-MA1llerian hormone type II receptor in myoma and adenomyosis. ( 29372159 )
2018
26
Feasibility and preliminary efficacy of an exercise telephone counseling intervention for hematologic cancer survivors: a phase II randomized controlled trial. ( 29411314 )
2018
27
Spinal Cord Stimulation with Percutaneous Type Lead in a Deaf Patient with Complex Regional Pain Syndrome Type II. ( 29316194 )
2018
28
An international survey on hypoglycemia among insulin-treated type I and type II diabetes patients: Turkey cohort of the non-interventional IO HAT study. ( 29433560 )
2018
29
Continuity between DSM-5 Section II and Section III personality traits for obsessive-compulsive personality disorder. ( 29024130 )
2018
30
Specific PKC I^ II Inhibitor: One Stone Two Birds in the Treatment of Diabetic Foot Ulcers. ( 29440456 )
2018
31
Phase II Study of Bevacizumab and Vorinostat for Patients with Recurrent World Health Organization Grade 4 Malignant Glioma. ( 29133513 )
2018
32
Sodium Tanshinone II A Sulfonate Injection as Adjuvant Treatment for Unstable Angina Pectoris: A Meta-Analysis of 17 Randomized Controlled Trials. ( 29181731 )
2018
33
Induction of cytochrome P450 4A14 contributes to angiotensin II-induced renal fibrosis in mice. ( 29277328 )
2018
34
The Effect of a Non-peptide Angiotensin II type 2 receptor Agonist, Compound 21, on Aortic Aneurysm Growth in a Mouse Model of Marfan Syndrome. ( 29300219 )
2018
35
Novel mutant of Escherichia coli asparaginase II to reduction of the glutaminase activity in treatment of acute lymphocytic leukemia by molecular dynamics simulations and QM-MM studies. ( 29447943 )
2018
36
Congenital methemoglobinemia type II in a 5-year-old boy. ( 29375859 )
2018
37
CLCN2 chloride channel mutations in familial hyperaldosteronism type II. ( 29403011 )
2018
38
Phase II study of doxorubicin and thalidomide in patients with refractory aggressive fibromatosis. ( 29170886 )
2018
39
Correlation of Insulin-Like Growth Factor-I and -II Concentrations at Birth Measured by Mass Spectrometry and Growth from Birth to Two Months. ( 29402777 )
2018
40
Giessen Procedure as Comprehensive Stage II Palliation With Aortic Arch Reconstruction After Hybrid Bilateral Pulmonary Artery Banding and Ductal Stenting for Hypoplastic Left Heart Syndrome. ( 29425520 )
2018
41
Phase II study of rituximab given in conjunction with standard chemotherapy in primary central nervous system lymphoma (PCNSL): a trial of the ECOG-ACRIN cancer research group (E1F05). ( 29416652 )
2018
42
Polymorphisms in the Wilms Tumor Gene Are Associated With Interindividual Variations in Rubella Virus-Specific Cellular Immunity After Measles-Mumps-Rubella II Vaccination. ( 29253144 )
2018
43
A novel proximal 3q29 chromosome microdeletion in a Chinese patient with Chiari malformation type II and Sprengel's deformity. ( 29410707 )
2018
44
The rationale and design of the national peripartum cardiomyopathy registries in Turkey: The ARTEMIS-I and ARTEMIS-II studies. ( 29339690 )
2018
45
Phase II investigational oral drugs for the treatment of radio/chemotherapy induced oral mucositis. ( 29323575 )
2018
46
Minimally invasive anterior and lateral transpsoas approaches for closed reduction of grade II spondylolisthesis: initial clinical and radiographic experience. ( 29290134 )
2018
47
Phase II trial of galiximab (anti-CD80 monoclonal antibody) plus rituximab (CALGB 50402): Follicular Lymphoma International Prognostic Index (FLIPI) score is predictive of upfront immunotherapy responsiveness. ( 29390097 )
2018
48
Computerized planimetry to assess clinical responsiveness in a phase II randomized trial of topical R333 for discoid lupus erythematosus. ( 29336019 )
2018
49
In vitro evaluation of the enantiomeric R- and S-1,1'-binaphthyl-2,2'-diaminodichlorido-Pt(ii) complexes in human Burkitt lymphoma cells: emphasis on cellular accumulation, cytotoxicity, DNA binding, and ability to induce apoptosis. ( 29333543 )
2018
50
Association of the SYNTAX Score II with cardiac rupture in patients with ST-segment elevation myocardial infarction undergoing a primary percutaneous coronary intervention. ( 29028739 )
2018

Variations for Blood Group, I System

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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