Cytoscape Web
Click node...

X-linked lymphoproliferative disease
2 OMIM references -
2 associated genes
91 connected diseases
8 signs/symptoms
Disease Type of connection
Cowden syndrome
Proteus syndrome
Hereditary breast and ovarian cancer syndrome
Heritable pulmonary arterial hypertension
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Young adult-onset Parkinsonism
Autosomal dominant hypohidrotic ectodermal dysplasia
LEOPARD syndrome
Noonan syndrome
Pilocytic astrocytoma
Severe X-linked mitochondrial encephalomyopathy
X-linked Charcot-Marie-Tooth disease type 4
Herpetic encephalitis
Behçet disease
Blau syndrome
Dedifferentiated liposarcoma
Well-differentiated liposarcoma
Bannayan-Riley-Ruvalcaba syndrome
Juvenile polyposis of infancy
Lhermitte-Duclos disease
Macrocephaly-autism syndrome
Proteus-like syndrome
Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
Squamous cell carcinoma of head and neck
X-linked non-syndromic intellectual deficit
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
MALT lymphoma
Acute myeloblastic leukemia with maturation
Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Aleukemic mast cell leukemia
Bullous diffuse cutaneous mastocytosis
Classic mast cell leukemia
Complete androgen insensitivity syndrome
Cutaneous mastocytoma
Familial hypospadias
Familial papillary renal cell carcinoma
Gastrointestinal stromal tumor
Hepatocellular carcinoma, childhood-onset
Isolated bone marrow mastocytosis
Kennedy disease
Lymphoadenopathic mastocytosis with eosinophilia
Nodular urticaria pigmentosa
Partial androgen insensitivity syndrome
Piebaldism
Plaque-form urticaria pigmentosa
Pseudoxanthomatous diffuse cutaneous mastocytosis
Smouldering systemic mastocytosis
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
Telangiectasia macularis eruptiva perstans
Typical urticaria pigmentosa
CARASIL
Congenital deficiency in alpha-fetoprotein
Familial pancreatic carcinoma
Familial prostate cancer
Hereditary breast cancer
Hereditary persistence of alpha-fetoprotein
Hereditary site-specific ovarian cancer syndrome
Primary peritoneal carcinoma
Autosomal recessive limb-girdle muscular dystrophy type 2H
Bardet-Biedl syndrome
Severe combined immunodeficiency due to LCK deficiency
Alpha-crystallinopathy
Amyotrophic lateral sclerosis
Autoimmune lymphoproliferative syndrome with recurrent infections
Brachydactyly type A2
Brachydactyly type C
Distal monosomy 12p
Familial isolated dilated cardiomyopathy
Fatal infantile hypertonic myofibrillar myopathy
Giant cell glioblastoma
Gliosarcoma
Idiopathic pulmonary arterial hypertension
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Kostmann syndrome
Lethal congenital contracture syndrome type 2
Papillary or follicular thyroid carcinoma
Posterior polar cataract
Pulmonary venoocclusive disease
Zonular cataract
Bartsocas-Papas syndrome
Familial partial lipodystrophy due to AKT2 mutations
Hypoinsulinemic hypoglycemia and body hemihypertrophy
Cerebellar ataxia - hypogonadism
Distal 22q11.2 microdeletion syndrome
Familial thoracic aortic aneurysm and aortic dissection
Hereditary hemorrhagic telangiectasia
Loeys-Dietz syndrome type 1
Multiple keratoacanthoma, Ferguson-Smith type
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
Neutrophil immunodeficiency syndrome
Synonym(s):
- Duncan disease
- Purtilo syndrome
- XLP
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
- Rare oncologic disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: x-linked recessive
External references:
2 OMIM references -
1 MeSH reference: D008232
Gene symbol UniProt reference OMIM reference
SH2D1A O60880300490
XIAP P98170300079
Very frequent
- T-cell deficiency / cellular immunity deficiency
- X-linked recessive inheritance

Frequent
- Agammaglobulinemia / hypogammaglobulinemia / B-cell deficiency
- Hepatomegaly / liver enlargement (excluding storage disease)
- Lymphadenopathy / polyadenopathies
- Lymphoma
- Splenomegaly

Occasional
- Anaemia