LAN
MCID: BLD148
MIFTS: 13

Blood Group, Langereis System (LAN)

Categories: Blood diseases, Genetic diseases

Aliases & Classifications for Blood Group, Langereis System

MalaCards integrated aliases for Blood Group, Langereis System:

Name: Blood Group, Langereis System 58
Blood Group System, Langereis 41
Lan 58

Classifications:



External Ids:

OMIM 58 111600
MedGen 43 C3276339

Summaries for Blood Group, Langereis System

OMIM : 58 Individuals with Lan(-) blood group lack the Lan antigen on their red blood cells. These individuals may have anti-Lan antibodies in their serum, which can cause transfusion reactions or hemolytic disease of the fetus or newborn. The Lan(-) blood group is only clinically significant in transfusion settings or during pregnancy; otherwise Lan(-) individuals have no clinical features (summary by Helias et al., 2012). (111600)

MalaCards based summary : Blood Group, Langereis System, also known as blood group system, langereis, is related to aging and horns in sheep. An important gene associated with Blood Group, Langereis System is ABCB6 (ATP Binding Cassette Subfamily B Member 6 (Langereis Blood Group)).

Related Diseases for Blood Group, Langereis System

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

(show all 11)
# Related Disease Score Top Affiliating Genes
1 aging 10.2
2 horns in sheep 10.0
3 welander distal myopathy 10.0
4 dengue shock syndrome 10.0
5 porphyria 10.0
6 frozen shoulder 10.0
7 acromegaly 10.0
8 severe acute respiratory syndrome 10.0
9 compartment syndrome 10.0
10 autoimmune progesterone dermatitis 10.0
11 carcinoid syndrome 10.0

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



Diseases related to Blood Group, Langereis System

Symptoms & Phenotypes for Blood Group, Langereis System

Clinical features from OMIM:

111600

Drugs & Therapeutics for Blood Group, Langereis System

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

Genetic Tests for Blood Group, Langereis System

Anatomical Context for Blood Group, Langereis System

Publications for Blood Group, Langereis System

Articles related to Blood Group, Langereis System:

# Title Authors Year
1
ABCB6 is dispensable for erythropoiesis and specifies the new blood group system Langereis. ( 22246506 )
2012

Variations for Blood Group, Langereis System

ClinVar genetic disease variations for Blood Group, Langereis System:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 ABCB6 NM_005689.4(ABCB6): c.574C> T (p.Arg192Trp) single nucleotide variant Affects rs149202834 GRCh37 Chromosome 2, 220082505: 220082505
2 ABCB6 NM_005689.4(ABCB6): c.574C> T (p.Arg192Trp) single nucleotide variant Affects rs149202834 GRCh38 Chromosome 2, 219217783: 219217783
3 ABCB6 NM_005689.3(ABCB6): c.717G> A (p.Trp239Ter) single nucleotide variant Affects rs148458820 GRCh38 Chromosome 2, 219216803: 219216803
4 ABCB6 NM_005689.3(ABCB6): c.717G> A (p.Trp239Ter) single nucleotide variant Affects rs148458820 GRCh37 Chromosome 2, 220081525: 220081525
5 ABCB6 NM_005689.3(ABCB6): c.1690_1691delAT (p.Met564Valfs) deletion Affects rs387906908 GRCh37 Chromosome 2, 220078189: 220078190
6 ABCB6 NM_005689.3(ABCB6): c.1690_1691delAT (p.Met564Valfs) deletion Affects rs387906908 GRCh38 Chromosome 2, 219213467: 219213468
7 ABCB6 NM_005689.3(ABCB6): c.1942C> T (p.Arg648Ter) single nucleotide variant Affects rs376664522 GRCh37 Chromosome 2, 220077135: 220077135
8 ABCB6 NM_005689.3(ABCB6): c.1942C> T (p.Arg648Ter) single nucleotide variant Affects rs376664522 GRCh38 Chromosome 2, 219212413: 219212413
9 ABCB6 NM_005689.3(ABCB6): c.1985_1986delTC (p.Leu662Profs) deletion Affects rs387906909 GRCh37 Chromosome 2, 220075813: 220075814
10 ABCB6 NM_005689.3(ABCB6): c.1985_1986delTC (p.Leu662Profs) deletion Affects rs387906909 GRCh38 Chromosome 2, 219211091: 219211092
11 ABCB6 NM_005689.3(ABCB6): c.2256+2T> G single nucleotide variant Affects GRCh37 Chromosome 2, 220075431: 220075431
12 ABCB6 NM_005689.3(ABCB6): c.2256+2T> G single nucleotide variant Affects GRCh38 Chromosome 2, 219210709: 219210709
13 ABCB6 NM_005689.3(ABCB6): c.1656-1G> A single nucleotide variant Affects rs879255549 GRCh37 Chromosome 2, 220078225: 220078225
14 ABCB6 NM_005689.3(ABCB6): c.1656-1G> A single nucleotide variant Affects rs879255549 GRCh38 Chromosome 2, 219213503: 219213503
15 ABCB6 NM_005689.3(ABCB6): c.1118_1124delCGGATCG (p.Ala373Glyfs) deletion Affects rs765925019 GRCh37 Chromosome 2, 220080749: 220080755
16 ABCB6 NM_005689.3(ABCB6): c.1118_1124delCGGATCG (p.Ala373Glyfs) deletion Affects rs765925019 GRCh38 Chromosome 2, 219216027: 219216033

Expression for Blood Group, Langereis System

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

Pathways for Blood Group, Langereis System

GO Terms for Blood Group, Langereis System

Sources for Blood Group, Langereis System

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70 SNOMED-CT via HPO
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74 UMLS
75 UMLS via Orphanet
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