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 57
Blood Group System, Langereis 40
Lan 57

Classifications:



External Ids:

OMIM 57 111600
MedGen 42 C3276339

Summaries for Blood Group, Langereis System

OMIM : 57 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 welander distal myopathy. 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:

# Related Disease Score Top Affiliating Genes
1 aging 10.1
2 welander distal myopathy 10.0
3 dengue shock syndrome 10.0
4 porphyria 10.0
5 frozen shoulder 10.0
6 acromegaly 10.0
7 severe acute respiratory syndrome 10.0
8 compartment syndrome 10.0
9 autoimmune progesterone dermatitis 10.0
10 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 15)
# Gene Variation Type Significance SNP ID Assembly Location
1 ABCB6 NM_005689.3(ABCB6): c.717G> A (p.Trp239Ter) single nucleotide variant Affects rs148458820 GRCh38 Chromosome 2, 219216803: 219216803
2 ABCB6 NM_005689.3(ABCB6): c.717G> A (p.Trp239Ter) single nucleotide variant Affects rs148458820 GRCh37 Chromosome 2, 220081525: 220081525
3 ABCB6 NM_005689.3(ABCB6): c.1690_1691delAT (p.Met564Valfs) deletion Affects rs387906908 GRCh37 Chromosome 2, 220078189: 220078190
4 ABCB6 NM_005689.3(ABCB6): c.1690_1691delAT (p.Met564Valfs) deletion Affects rs387906908 GRCh38 Chromosome 2, 219213467: 219213468
5 ABCB6 NM_005689.3(ABCB6): c.1942C> T (p.Arg648Ter) single nucleotide variant Affects rs376664522 GRCh37 Chromosome 2, 220077135: 220077135
6 ABCB6 NM_005689.3(ABCB6): c.1942C> T (p.Arg648Ter) single nucleotide variant Affects rs376664522 GRCh38 Chromosome 2, 219212413: 219212413
7 ABCB6 NM_005689.3(ABCB6): c.1985_1986delTC (p.Leu662Profs) deletion Affects rs387906909 GRCh37 Chromosome 2, 220075813: 220075814
8 ABCB6 NM_005689.3(ABCB6): c.1985_1986delTC (p.Leu662Profs) deletion Affects rs387906909 GRCh38 Chromosome 2, 219211091: 219211092
9 ABCB6 ABCB6, IVS16DS, T-G, +2 single nucleotide variant Affects
10 ABCB6 NM_005689.3(ABCB6): c.1656-1G> A single nucleotide variant Affects rs879255549 GRCh37 Chromosome 2, 220078225: 220078225
11 ABCB6 NM_005689.3(ABCB6): c.1656-1G> A single nucleotide variant Affects rs879255549 GRCh38 Chromosome 2, 219213503: 219213503
12 ABCB6 NM_005689.3(ABCB6): c.1118_1124delCGGATCG (p.Ala373Glyfs) deletion Affects rs765925019 GRCh37 Chromosome 2, 220080749: 220080755
13 ABCB6 NM_005689.3(ABCB6): c.1118_1124delCGGATCG (p.Ala373Glyfs) deletion Affects rs765925019 GRCh38 Chromosome 2, 219216027: 219216033
14 ABCB6 NM_005689.3(ABCB6): c.574C> T (p.Arg192Trp) single nucleotide variant Affects rs149202834 GRCh38 Chromosome 2, 219217783: 219217783
15 ABCB6 NM_005689.3(ABCB6): c.574C> T (p.Arg192Trp) single nucleotide variant Affects rs149202834 GRCh37 Chromosome 2, 220082505: 220082505

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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74 UMLS via Orphanet
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