RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER

General Information (adopted from Orphanet):

Synonyms, Signs: ALPS4
Number of Symptoms 14
OrphanetNr:
OMIM Id: 614470
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001744) Splenomegaly 337 / 7739
2
(HPO:0002240) Hepatomegaly 467 / 7739
3
(HPO:0001875) Neutropenia 83 / 7739
4
(HPO:0010702) Increased antibody level in blood 29 / 7739
5
(HPO:0012311) Monocytosis 10 / 7739
6
(HPO:0001876) Pancytopenia 89 / 7739
7
(HPO:0001973) Autoimmune thrombocytopenia 18 / 7739
8
(HPO:0001878) Hemolytic anemia 83 / 7739
9
(HPO:0005523) Lymphoproliferative disorder 4 / 7739
10
(HPO:0002731) Decreased lymphocyte apoptosis 4 / 7739
11
(HPO:0002665) Lymphoma 60 / 7739
12
(HPO:0001909) Leukemia 46 / 7739
13
(HPO:0002205) Recurrent respiratory infections rare [HPO:skoehler] 254 / 7739
14
(HPO:0002729) Follicular hyperplasia 5 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Autoimmune lymphoproliferative syndromes are characterized by chronic accumulation of nonmalignant lymphocytes, defective lymphocyte apoptosis, and an increased risk for the development of hematologic malignancies. ALPS IV is the first form known to be caused by abnormal intrinsic pathway ...
Clinical Description OMIM Oliveira et al. (2007) reported a 49-year-old patient with autoimmune lymphoproliferative syndrome who had a lifelong overexpansion of lymphocytes and a history of childhood leukemia and early adulthood lymphoma, both successfully treated. There were no developmental defects. Laboratory ...
Molecular genetics OMIM In a patient with ALPS type IV, Oliveira et al. (2007) identified a heterozygous G-to-A transition in the NRAS gene, resulting in a gly13-to-asp substitution (G13D; 164790.0003). In vitro functional expression studies showed that the G13D mutation resulted ...