MCID: LTH044
MIFTS: 11

Lutheran Null

Categories: Genetic diseases

Aliases & Classifications for Lutheran Null

MalaCards integrated aliases for Lutheran Null:

Name: Lutheran Null 57
Recessive Lu Phenotype 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
no phenotypic manifestations
see also autosomal dominant lutheran-null phenotype


HPO:

32
lutheran null:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 247420
MedGen 42 C1292230
SNOMED-CT via HPO 69 258211005

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)

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)). Affiliated tissues include testes, and related phenotype is absence of lutheran antigen on erythrocytes.

Related Diseases for Lutheran Null

Symptoms & Phenotypes for Lutheran Null

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Lutheran Null:

32
# Description HPO Frequency HPO Source Accession
1 absence of lutheran antigen on erythrocytes 32 HP:0010971

Drugs & Therapeutics for Lutheran Null

Search Clinical Trials , NIH Clinical Center for Lutheran Null

Genetic Tests for Lutheran Null

Anatomical Context for Lutheran Null

MalaCards organs/tissues related to Lutheran Null:

41
Testes

Publications for Lutheran Null

Articles related to Lutheran Null:

# Title Authors Year
1
Different inactivating mutations in the LU genes of three individuals with the Lutheran-null phenotype. ( 17319831 )
2007

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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