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Autosomal recessive lymphoproliferative disease
2 OMIM references -
2 associated genes
39 connected diseases
No signs/symptoms info
Disease Type of connection
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
X-linked thrombocytopenia with normal platelets
Herpetic encephalitis
Juvenile myelomonocytic leukemia
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Autoimmune lymphoproliferative syndrome
Familial papillary renal cell carcinoma
Hepatocellular carcinoma, childhood-onset
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Hypohidrotic ectodermal dysplasia with immunodeficiency
Incontinentia pigmenti
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
X-linked agammaglobulinemia
Severe combined immunodeficiency due to LCK deficiency
Lethal congenital contracture syndrome type 2
Autosomal agammaglobulinemia
Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation
Familial pancreatic carcinoma
Familial thoracic aortic aneurysm and aortic dissection
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary hemorrhagic telangiectasia
Loeys-Dietz syndrome type 1
Multiple keratoacanthoma, Ferguson-Smith type
Myhre syndrome
PLCG2-associated antibody deficiency and immune dysregulation
Giant cell glioblastoma
Gliosarcoma
Hartsfield-Bixler-Demyer syndrome
Isolated trigonocephaly
Kallmann syndrome
Myeloid neoplasm associated with FGFR1 rearrangement
Normosmic congenital hypogonadotropic hypogonadism
Oligodontia
Osteoglophonic dwarfism
Pfeiffer syndrome type 1
Pilocytic astrocytoma
Septo-optic dysplasia
Synonym(s):
(no synonyms)
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: autosomal recessive
External references:
2 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
CD27 P26842186711
ITK Q08881186973
No signs/symptoms info available.