LUTHERAN NULL

General Information (adopted from Orphanet):

Synonyms, Signs: RECESSIVE LU (a-b-) PHENOTYPE
Number of Symptoms 5
OrphanetNr:
OMIM Id: 247420
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0010971) Absence of Lutheran antigen on erythrocytes 2 / 7739
2
(OMIM) Absence of Lutheran antigen on red blood cells 1 / 7739
3
(OMIM) Presence of serum anti-Lu3 antibodies 1 / 7739
4
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
5
(OMIM) Lu(a-b-) phenotype 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Darnborough et al. (1963) reported an English woman with recessive Lu null. She was ascertained when transfused during pulmonary lobectomy for tuberculosis. An anti-Lu antibody was found in her serum.

Brown et al. (1974) reported a ...

Molecular genetics OMIM In a Japanese man with the Lutheran null phenotype, Mallinson et al. (1997) identified a homozygous mutation in the BCAM gene (612773.0005).

Karamatic Crew et al. (2004) identified a homozygous mutation in the BCAM gene (612773.0006) ...