X-linked lymphoproliferative disease

General Information (adopted from Orphanet):

Synonyms, Signs: XLP
Purtilo syndrome
Duncan disease
Number of Symptoms 15
OrphanetNr: 2442
OMIM Id: 300635
308240
ICD-10: D82.3
UMLs: C0549463
MeSH: D008232
MedDRA: 10068348
Snomed: 77121009

Prevalence, inheritance and age of onset:

Prevalence: 0.05 of 100 000 [Orphanet]
Inheritance: X-linked 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:0002240) Hepatomegaly Frequent [Orphanet] 467 / 7739
2
 (HPO:0012115) Hepatitis 8/9 [HPO:probinson] 24 / 7739
3
 (HPO:0001744) Splenomegaly Frequent [Orphanet] 9/10 [HPO:probinson] 20489057 IBIS 337 / 7739
4
 (HPO:0010701) Abnormal immunoglobulin level Frequent [Orphanet] 49 / 7739
5
 (HPO:0012156) Hemophagocytosis 4/9 [HPO:probinson] 9 / 7739
6
 (HPO:0002665) Lymphoma Frequent [Orphanet] 60 / 7739
7
 (HPO:0011900) Hypofibrinogenemia 7/8 [HPO:probinson] 8 / 7739
8
 (HPO:0004313) Decreased antibody level in blood 47 / 7739
9
 (HPO:0001903) Anemia Occasional [Orphanet] 289 / 7739
10
 (HPO:0002155) Hypertriglyceridemia 7/8 [HPO:probinson] 67 / 7739
11
 (HPO:0001945) Fever 9/10 [HPO:probinson] 218 / 7739
12
 (HPO:0003281) Increased serum ferritin 7/8 [HPO:probinson] 32 / 7739
13
 (HPO:0002716) Lymphadenopathy Frequent [Orphanet] 129 / 7739
14
 (HPO:0005352) Severe T-cell immunodeficiency Very frequent [Orphanet] 20 / 7739
15
 (HPO:0001417) X-linked inheritance 173 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: