Pediatric systemic lupus erythematosus

General Information (adopted from Orphanet):

Synonyms, Signs: SLE, pediatric onset
Number of Symptoms 48
OrphanetNr: 93552
OMIM Id:
ICD-10: M32
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 5 of 100 000
Inheritance: Multifactorial
Age of onset: childhood

Disease classification (adopted from Orphanet):

Parent Diseases: Inflammatory and autoimmune disease with epilepsy
 -Rare neurologic disease
Secondary glomerular disease
 -Rare renal disease
Secondary interstitial lung disease specific to childhood associated with a connective tissue disease
 -Rare respiratory disease
Systemic autoimmune disease
 -Rare systemic or rheumatologic disease
Thrombotic microangiopathy
 -Rare renal disease

Comment:

Systemic lupus erythematosus (SLE) is an episodic, multisystem, autoimmune disease characterized by widespread inflammation of blood vessels and connective tissue. Environmental, genetic and ethnic factors seem to play a role in the expression of the disease (PMID:18625643). SLE is more frequent in women than in men (PMID:25697768) In a case study of genetically identical triplets, each sibling manifested overlapping but not identical clinical signs (PMID:14613280). Worldwide, 15 - 17% of SLE patients present before 16 years of age.

Symptom Information: Sort by abundance 

1
 (HPO:0000083) Renal insufficiency 16100891 IBIS 232 / 7739
2
 (HPO:0000099) Glomerulonephritis 16100891 IBIS 13 / 7739
3
 (HPO:0000112) Nephropathy Frequent [IBIS] 50% (n=165) 15820375 IBIS 92 / 7739
4
 (HPO:0000100) Nephrotic syndrome 16100891 IBIS 83 / 7739
5
 (HPO:0000093) Proteinuria Frequent [IBIS] 64% (n=50) 18625643 IBIS 169 / 7739
6
 (HPO:0000790) Hematuria Frequent [IBIS] 38% (n=50) 18625643 IBIS 106 / 7739
7
 (HPO:0000155) Oral ulcer 14613280 IBIS 9 / 7739
8
 (HPO:0002315) Headache 16100891 IBIS 175 / 7739
9
 (HPO:0000709) Psychosis 16100891 IBIS 61 / 7739
10
 (HPO:0002072) Chorea 16100891 IBIS 53 / 7739
11
 (HPO:0012378) Fatigue 16100891 IBIS 50 / 7739
12
 (HPO:0001269) Hemiparesis 16100891 IBIS 51 / 7739
13
 (HPO:0000716) Depression 16100891 IBIS 99 / 7739
14
 (HPO:0001298) Encephalopathy 16100891 IBIS 72 / 7739
15
 (HPO:0001250) Seizures 16100891 IBIS 1245 / 7739
16
 (HPO:0001369) Arthritis 16100891 IBIS 44 / 7739
17
 (HPO:0002829) Arthralgia 16100891 IBIS 79 / 7739
18
 (HPO:0002027) Abdominal pain 16100891 IBIS 184 / 7739
19
 (HPO:0001733) Pancreatitis 16100891 IBIS 46 / 7739
20
 (HPO:0002018) Nausea 14613280 IBIS 44 / 7739
21
 (HPO:0002013) Vomiting 14613280 IBIS 191 / 7739
22
 (HPO:0002240) Hepatomegaly Occasional [IBIS] 20% (n=50) 18625643 IBIS 467 / 7739
23
 (HPO:0001433) Hepatosplenomegaly 16100891 IBIS 78 / 7739
24
 (HPO:0001824) Weight loss Frequent [IBIS] 52% (n=50) 18625643 IBIS 42 / 7739
25
 (HPO:0000951) Abnormality of the skin Frequent [IBIS] 79% (n=165) 15820375 IBIS 147 / 7739
26
 (HPO:0000988) Skin rash Frequent [IBIS] 16100891 IBIS 98 / 7739
27
 (HPO:0001025) Urticaria 16100891 IBIS 73 / 7739
28
 (HPO:0000992) Cutaneous photosensitivity Occasional [IBIS] 16100891 IBIS 75 / 7739
29
 (HPO:0001596) Alopecia Frequent [IBIS] 36% (n=50) 18625643 IBIS 162 / 7739
30
 (HPO:0007417) Discoid lupus erythematosus 16100891 IBIS 6 / 7739
31
 (HPO:0001698) Pericardial effusion 16100891 IBIS 20 / 7739
32
 (HPO:0001701) Pericarditis 18625643 IBIS 13 / 7739
33
 (HPO:0000822) Hypertension Occasional [IBIS] 16% (n=50) 18625643 IBIS 224 / 7739
34
 (HPO:0002633) Vasculitis 16100891 IBIS 12 / 7739
35
 (HPO:0001637) Abnormality of the myocardium 18625643 IBIS 76 / 7739
36
 (HPO:0001873) Thrombocytopenia Occasional [IBIS] 20% (n=50) 18625643 IBIS 224 / 7739
37
 (HPO:0001882) Leukopenia Occasional [IBIS] 14% (n=50) 18625643 IBIS 51 / 7739
38
 (HPO:0001888) Lymphopenia Occasional [IBIS] 16% (n=50) 18625643 IBIS 43 / 7739
39
 (HPO:0001878) Hemolytic anemia Frequent [IBIS] 60% (n=50) 18625643 IBIS 83 / 7739
40
 (HPO:0001945) Fever Frequent [IBIS] 62% (n=50) 18625643 IBIS 218 / 7739
41
 (HPO:0002202) Pleural effusion Occasional [IBIS] 14% (n=50) 18625643 IBIS 22 / 7739
42
 (HPO:0006515) Interstitial pneumonitis 18625643 IBIS 13 / 7739
43
 (HPO:0002090) Pneumonia 16100891 IBIS 59 / 7739
44
 (HPO:0002716) Lymphadenopathy Frequent [IBIS] 36% (n=50) 18625643 IBIS 129 / 7739
45
 (HPO:0005421) Decreased serum complement C3 Frequent [IBIS] 84% (n=50) 18625643 IBIS 9 / 7739
46
 (HPO:0100806) Sepsis 16100891 IBIS 48 / 7739
47
 (HPO:0100614) Myositis 14613280 IBIS 21 / 7739
48
 (HPO:0003326) Myalgia 16100891 IBIS 143 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: