AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA

General Information (adopted from Orphanet):

Synonyms, Signs: ALPS2A
Number of Symptoms 39
OrphanetNr:
OMIM Id: 603909
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000123) Nephritis 18 / 7739
2
(HPO:0000100) Nephrotic syndrome 83 / 7739
3
(HPO:0001744) Splenomegaly 337 / 7739
4
(HPO:0002240) Hepatomegaly 467 / 7739
5
(HPO:0001025) Urticaria 73 / 7739
6
(HPO:0002633) Vasculitis 12 / 7739
7
(HPO:0003261) Increased IgA level 12 / 7739
8
(HPO:0001904) Autoimmune neutropenia 5 / 7739
9
(HPO:0001891) Iron deficiency anemia 22 / 7739
10
(HPO:0003496) Increased IgM level 8 / 7739
11
(HPO:0002853) Increased proportion of HLA DR+ and CD57+ T cells 3 / 7739
12
(HPO:0002972) Reduced delayed hypersensitivity 7 / 7739
13
(HPO:0004844) Coombs-positive hemolytic anemia 5 / 7739
14
(HPO:0001880) Eosinophilia 35 / 7739
15
(HPO:0002845) Increased number of peripheral CD3+ T cells 3 / 7739
16
(HPO:0001890) Autoimmune hemolytic anemia 17 / 7739
17
(HPO:0005404) Increase in B cell number 1 / 7739
18
(HPO:0003237) Increased IgG level 5 / 7739
19
(HPO:0002731) Decreased lymphocyte apoptosis 4 / 7739
20
(HPO:0002851) Increased number of CD4-/CD8- T cells expressing alpha/beta T-cell receptors 3 / 7739
21
(HPO:0001973) Autoimmune thrombocytopenia 18 / 7739
22
(HPO:0002729) Follicular hyperplasia 5 / 7739
23
(HPO:0003454) Platelet antibody positive 4 / 7739
24
(HPO:0003493) Antinuclear antibody positivity 15 / 7739
25
(HPO:0003453) Antineutrophil antibody positivity 3 / 7739
26
(HPO:0003262) Smooth muscle antibody positivity 3 / 7739
27
(HPO:0002730) Chronic noninfectious lymphadenopathy 3 / 7739
28
(HPO:0002923) Rheumatoid factor positive 5 / 7739
29
(HPO:0003613) Antiphospholipid antibody positivity 4 / 7739
30
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
31
(OMIM) Malar rash 1 / 7739
32
(OMIM) Vasculitis rash 2 / 7739
33
(OMIM) Lymph nodes show florid reactive follicular hyperplasia and marked paracortical expansion with immunoblasts and plasma cells 2 / 7739
34
(OMIM) Membranous glomerulonephropathy 1 / 7739
35
(OMIM) Anti-factor VIII positive 1 / 7739
36
(OMIM) Antiribonuclear protein positive 1 / 7739
37
(HPO:0003621) Juvenile onset 105 / 7739
38
(OMIM) Phospholipid antibody positive 2 / 7739
39
(OMIM) Anti-SSB positive 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Wang et al. (1999) reported 2 unrelated patients with ALPS2A. An 11-year-old African American female presented with prominent nonmalignant adenopathy, hepatosplenomegaly, and Coombs-positive hemolytic anemia at 1 year of age. She exhibited a wide-ranging loss of immunologic self-tolerance ...
Molecular genetics OMIM Sneller et al. (1997) found that 1 of 9 patients with ALPS did not have a mutation in either the FAS or FASL gene. The authors proposed the designation ALPS type II to refer to the syndrome in ...