Autosomal recessive lymphoproliferative disease

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 14
OrphanetNr: 238505
OMIM Id: 613011
615122
ICD-10: D72.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Lymphoproliferative syndrome
 -Rare genetic disease
 -Rare immune disease
 -Rare oncologic disease
Primary hemophagocytic lymphohistiocytosis
 -Rare genetic disease
 -Rare immune disease

Symptom Information: Sort by abundance 

1
 (HPO:0011107) Recurrent aphthous stomatitis 13 / 7739
2
 (HPO:0001744) Splenomegaly 337 / 7739
3
 (HPO:0002240) Hepatomegaly 467 / 7739
4
 (HPO:0001873) Thrombocytopenia 224 / 7739
5
 (HPO:0001903) Anemia 289 / 7739
6
 (HPO:0002665) Lymphoma 60 / 7739
7
 (HPO:0001876) Pancytopenia 89 / 7739
8
 (HPO:0004315) IgG deficiency 38 / 7739
9
 (HPO:0003565) Elevated erythrocyte sedimentation rate 31 / 7739
10
 (HPO:0002716) Lymphadenopathy 129 / 7739
11
 (HPO:0002960) Autoimmunity 78 / 7739
12
 (HPO:0002719) Recurrent infections 107 / 7739
13
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
14
 (HPO:0003621) Juvenile onset 105 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: