Blood Group, Colton System disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Blood Group, Colton System

MalaCards integrated aliases for Blood Group, Colton System:

Name: Blood Group, Colton System ⁵⁷

Blood Group System, Colton ⁴⁰

Colton Blood Group System ⁵⁷

Aquaporin-1 Deficiency ⁵⁷

Co ⁵⁷

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Blood diseases

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External Ids:

OMIM ⁵⁷ 110450

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Summaries for Blood Group, Colton System

OMIM : ⁵⁷ Colton is a relatively simple blood group system consisting of a single polymorphism, with high and low incidence alleles represented by Co(a) and Co(b) antigens, respectively. A third antigen, Co3, is present on all cells, save those of the null phenotype, Co(a-b-) (summary by Daniels, 2002). The Colton-null phenotype, Co(a-b-), is also known as aquaporin-1 deficiency. (110450)

MalaCards based summary : Blood Group, Colton System, also known as blood group system, colton, is related to co-trimoxazole allergy and twin-to-twin transfusion syndrome. An important gene associated with Blood Group, Colton System is AQP1 (Aquaporin 1 (Colton Blood Group)).

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Related Diseases for Blood Group, Colton System

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

(show top 50) (show all 3197)

#	Related Disease	Score
1	co-trimoxazole allergy	12.4
2	twin-to-twin transfusion syndrome	11.7
3	attention deficit-hyperactivity disorder	11.4
4	chronic pain	11.4
5	pulmonary alveolar microlithiasis	11.4
6	developmental coordination disorder	11.4
7	hyperlipoproteinemia, type iii	11.3
8	hypotonia	11.3
9	hypospadias	11.3
10	whiplash	11.3
11	marinesco-sjogren syndrome	11.3
12	vater/vacterl association	11.3
13	tabes dorsalis	11.3
14	vacterl association	11.3
15	meconium ileus	11.2
16	cobalt allergic contact dermatitis	11.2
17	cobalt allergic asthma	11.2
18	isolated duane retraction syndrome	11.2
19	delayed encephalopathy due to carbon monoxide poisoning	11.2
20	cortisone reductase deficiency	11.2
21	dystonia, dopa-responsive	11.0
22	pelger-huet anomaly	11.0
23	trichodentoosseous syndrome	11.0
24	mitochondrial dna depletion syndrome 4a	11.0
25	fucosidosis	11.0
26	mitochondrial complex i deficiency, nuclear type 1	11.0
27	gonadoblastoma	11.0
28	lathosterolosis	11.0
29	erythroderma, ichthyosiform, congenital reticular	11.0
30	heart-hand syndrome, slovenian type	11.0
31	reynolds syndrome	11.0
32	aromatase deficiency	11.0
33	ectodermal dysplasia-syndactyly syndrome 1	11.0
34	hartsfield syndrome	11.0
35	chronic atrial and intestinal dysrhythmia	11.0
36	encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum	11.0
37	powassan encephalitis	11.0
38	good syndrome	11.0
39	social emotional agnosia	11.0
40	vulvitis	11.0
41	cerebellar agenesis	11.0
42	combined immunodeficiency due to partial rag1 deficiency	11.0
43	paroxysmal exertion-induced dyskinesia	11.0
44	phacomatosis pigmentovascularis	11.0
45	worth type autosomal dominant osteosclerosis	11.0
46	floppy infant syndrome	11.0
47	infantile hypotonia	11.0
48	progressive locomotor ataxia	11.0
49	syphilitic spinal sclerosis	11.0
50	hepatitis c virus	10.6

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

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Symptoms & Phenotypes for Blood Group, Colton System

Clinical features from OMIM:

110450

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Drugs & Therapeutics for Blood Group, Colton System

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

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Genetic Tests for Blood Group, Colton System

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Anatomical Context for Blood Group, Colton System

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Publications for Blood Group, Colton System

Articles related to Blood Group, Colton System:

(show all 16)

#	Title	Authors	PMID	Year
1	An AQP1 null allele in an Indian woman with Co(a-b-) phenotype and high-titer anti-Co3 associated with mild HDN. ³⁸ ⁸	Joshi SR...Flegel WA	11606828	2001
2	Decreased pulmonary vascular permeability in aquaporin-1-null humans. ⁸	King LS...Brown RH	11773634	2002
3	Defective urinary concentrating ability due to a complete deficiency of aquaporin-1. ⁸	King LS...Agre P	11463012	2001
4	Mutations in aquaporin-1 in phenotypically normal humans without functional CHIP water channels. ⁸	Preston GM...Agre P	7521540	1994
5	Human red cell aquaporin CHIP. I. Molecular characterization of ABH and Colton blood group antigens. ⁸	Smith BL...Agre P	7521882	1994
6	Linkage between the Colton blood group locus and ASSP11 on chromosome 7. ⁸	Zelinski T...Lewis M	2341151	1990
7	Colton blood groups: indication of linkage with the Kidd (Jk) system as support for assignment to chromosome 7. ⁸	Mohr J...Eiberg H	862214	1977
8	Colton blood groups in Canadian Caucasians: frequencies, inheritance and linkage analysis. ⁸	Lewis M...Anderson J	857421	1977
9	A functional AQP1 allele producing a Co(a-b-) phenotype revises and extends the Colton blood group system. ³⁸	Arnaud L...Cartron JP	20492605	2010
10	A silenced allele in the Colton blood group system. ³⁸	Karpasitou K...Poli F	20345514	2010
11	A review of the Colton blood group system. ³⁸	Halverson GR...Peyrard T	20795314	2010
12	Acute hemolytic transfusion reaction caused by anti-Coa. ³⁸	Covin RB...Thompson HW	15373591	2001
13	Case report: anti-Coa in a Co-(a+)-typed patient with chronic renal insufficiency. ³⁸	Leo A...Roelcke D	9356672	1997
14	[Characteristics of anti-Coa antibodies of the Colton blood group system and their significance in hemotherapy]. ³⁸	Kusnierz G...Cwirko Z	6673468	1983
15	Exclusion of the red blood cell antigen Fra from the Colton blood group system. ³⁸	Kaita H...McAlpine PJ	7368269	1980
16	[Delivery of a pregnant woman with a rare phenotype in the Colton-blood group system (author's transl)]. ³⁸	Fuhrmann U...Kruger HW	422031	1979

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Genes for Blood Group, Colton System

Genes related to Blood Group, Colton System (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	AQP1	Aquaporin 1 (Colton Blood Group)	Protein Coding	550	Molecular basis known ⁵⁷ Typically genetic variations that lead to apparently abnormal laboratory test values ⁵⁷

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Variations for Blood Group, Colton System

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Expression for Blood Group, Colton System

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

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Pathways for Blood Group, Colton System

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GO Terms for Blood Group, Colton System

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Blood Group, Colton System (CO)

Aliases & Classifications for Blood Group, Colton System

MalaCards integrated aliases for Blood Group, Colton System:

Classifications:

External Ids:

Summaries for Blood Group, Colton System

Related Diseases for Blood Group, Colton System

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

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

Symptoms & Phenotypes for Blood Group, Colton System

Clinical features from OMIM:

Drugs & Therapeutics for Blood Group, Colton System

Genetic Tests for Blood Group, Colton System

Anatomical Context for Blood Group, Colton System

Publications for Blood Group, Colton System

Articles related to Blood Group, Colton System:

Genes for Blood Group, Colton System

Genes related to Blood Group, Colton System (1 elite genes):

Variations for Blood Group, Colton System

Expression for Blood Group, Colton System

Pathways for Blood Group, Colton System

GO Terms for Blood Group, Colton System

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