SYSTEMIC LUPUS ERYTHEMATOSUS

General Information (adopted from Orphanet):

Synonyms, Signs: EXCESS LMW-DNA, INCLUDED
SLE EXCESS LYMPHOCYTE LOW MOLECULAR WEIGHT DNA, INCLUDED
Number of Symptoms 17
OrphanetNr:
OMIM Id: 152700
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000123) Nephritis 18 / 7739
2
(HPO:0001250) Seizures 1245 / 7739
3
(HPO:0000709) Psychosis 61 / 7739
4
(HPO:0001369) Arthritis 44 / 7739
5
(HPO:0000992) Cutaneous photosensitivity 75 / 7739
6
(HPO:0001701) Pericarditis 13 / 7739
7
(HPO:0001878) Hemolytic anemia 83 / 7739
8
(HPO:0001873) Thrombocytopenia 224 / 7739
9
(HPO:0001882) Leukopenia 51 / 7739
10
(HPO:0002102) Pleuritis 7 / 7739
11
(HPO:0003493) Antinuclear antibody positivity 15 / 7739
12
(HPO:0003613) Antiphospholipid antibody positivity 4 / 7739
13
(HPO:0002725) Systemic lupus erythematosus 14 / 7739
14
(OMIM) Anti dsDNA antibody 1 / 7739
15
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
16
(OMIM) Discoid rash 1 / 7739
17
(OMIM) Erythematous malar rash 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Systemic lupus erythematosus (SLE), a chronic, remitting, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, acute or insidious at onset, is characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. Lupus erythematosus is ...
Clinical Description OMIM Lappat and Cawein (1968) suggested that drug-induced, specifically procainamide-induced, systemic lupus erythematosus is an expression of a pharmacogenetic polymorphism. Among close relatives of a procainamide SLE proband, they found antinuclear antibody in the serum in 3, and in ...
Genotype-Phenotype Correlations OMIM Sturfelt et al. (1990) found homozygous C4A deficiency in 13 of 80 patients (16%). Photosensitivity was a more impressive feature in these homozygotes than in other lupus patients. The T4/Leu-3 molecule (186940) is a T-cell differentiation antigen expressed ...
Molecular genetics OMIM - Association with the PTPN22 Gene on Chromosome 1p13

In a study of 525 unrelated North American white individuals with SLE, Kyogoku et al. (2004) found an association with the R620W polymorphism in the PTPN22 gene ...