MCID: LTH044
MIFTS: 11

Lutheran Null

Categories: Blood diseases, Genetic diseases
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Aliases & Classifications for Lutheran Null

MalaCards integrated aliases for Lutheran Null:

Name: Lutheran Null 57
Recessive Lu Phenotype 57

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
no phenotypic manifestations
see also autosomal dominant lutheran-null phenotype


Classifications:



External Ids:

OMIM® 57 247420
MedGen 40 C1292230

Summaries for Lutheran Null

OMIM®: 57 Autosomal recessive inheritance of the Lutheran null blood group phenotype is extremely rare, and has been reported in only 5 individuals. There is no obvious associated clinical or hematologic pathology, and all patients have been identified through identification of anti-Lu3 antibodies in their serum (Karamatic Crew et al., 2007). The Lutheran inhibitor blood group phenotype (In(Lu); 111150) is characterized phenotypically by the apparent absence of the Lu antigen on red blood cells during serologic tests, i.e. Lu(a-b-). Since it is inherited as an autosomal dominant trait, it was initially postulated to result from an inhibitor of the Lu antigen. However, Singleton et al. (2008) found that the phenotype results from a mutation in the transcription factor KLF1 that regulates expression of the BCAM gene. These 2 forms of Lutheran absence on red blood cells can be differentiated both by the pedigree and by serologic studies. An X-linked recessive form (309050) has been rarely reported. (247420) (Updated 08-Dec-2022)

MalaCards based summary: Lutheran Null, is also known as recessive lu phenotype. An important gene associated with Lutheran Null is BCAM (Basal Cell Adhesion Molecule (Lutheran Blood Group)). Related phenotype is absence of lutheran antigen on erythrocytes.

Related Diseases for Lutheran Null

Symptoms & Phenotypes for Lutheran Null

Human phenotypes related to Lutheran Null:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 absence of lutheran antigen on erythrocytes 30 HP:0010971

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Hematology:
absence of lutheran antigen on red blood cells
lu(a-b-) phenotype

Laboratory Abnormalities:
presence of serum anti-lu3 antibodies

Clinical features from OMIM®:

247420 (Updated 08-Dec-2022)

Drugs & Therapeutics for Lutheran Null

Search Clinical Trials, NIH Clinical Center for Lutheran Null

Genetic Tests for Lutheran Null

Anatomical Context for Lutheran Null

Publications for Lutheran Null

Articles related to Lutheran Null:

# Title Authors PMID Year
1
Different inactivating mutations in the LU genes of three individuals with the Lutheran-null phenotype. 62 57
17319831 2007
2
Mutations in EKLF/KLF1 form the molecular basis of the rare blood group In(Lu) phenotype. 57
18487511 2008
3
A further example of the recessive Lu(a-b-) phenotype. 57
1146276 1975
4
The recessive Lu(a-b-) phenotype. A family study. 57
4836779 1974
5
A "new" antibody anti-Lu-a-Lu-b and two further examples of the genotype Lu(a-b-). 57
14025138 1963

Variations for Lutheran Null

Expression for Lutheran Null

Search GEO for disease gene expression data for Lutheran Null.

Pathways for Lutheran Null

GO Terms for Lutheran Null

Sources for Lutheran Null

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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