MCID: ATS229
MIFTS: 20

Autosomal Recessive Lymphoproliferative Disease

Categories: Blood diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Autosomal Recessive Lymphoproliferative Disease

MalaCards integrated aliases for Autosomal Recessive Lymphoproliferative Disease:

Name: Autosomal Recessive Lymphoproliferative Disease 59
Lymphoproliferative Syndrome 2 73
Cd27 Deficiency 59

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive lymphoproliferative disease
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

Orphanet 59 ORPHA238505
ICD10 via Orphanet 34 D47.9
UMLS 73 C3554540

Summaries for Autosomal Recessive Lymphoproliferative Disease

MalaCards based summary : Autosomal Recessive Lymphoproliferative Disease, also known as lymphoproliferative syndrome 2, is related to lymphoproliferative syndrome 2 and combined t cell and b cell immunodeficiency, and has symptoms including fever An important gene associated with Autosomal Recessive Lymphoproliferative Disease is CD27 (CD27 Molecule), and among its related pathways/superpathways is Akt Signaling. Affiliated tissues include t cells and b cells, and related phenotype is Reduced mammosphere formation.

Related Diseases for Autosomal Recessive Lymphoproliferative Disease

Symptoms & Phenotypes for Autosomal Recessive Lymphoproliferative Disease

UMLS symptoms related to Autosomal Recessive Lymphoproliferative Disease:


fever

GenomeRNAi Phenotypes related to Autosomal Recessive Lymphoproliferative Disease according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 8.62 CD27 ITK

Drugs & Therapeutics for Autosomal Recessive Lymphoproliferative Disease

Search Clinical Trials , NIH Clinical Center for Autosomal Recessive Lymphoproliferative Disease

Genetic Tests for Autosomal Recessive Lymphoproliferative Disease

Anatomical Context for Autosomal Recessive Lymphoproliferative Disease

MalaCards organs/tissues related to Autosomal Recessive Lymphoproliferative Disease:

41
T Cells, B Cells

Publications for Autosomal Recessive Lymphoproliferative Disease

Articles related to Autosomal Recessive Lymphoproliferative Disease:

# Title Authors Year
1
Immune Dysregulation Syndromes (IPEX, CD27 Deficiency, and Others): Always Doomed from the Start? ( 26661331 )
2016
2
Novel mutations in TNFRSF7/CD27: Clinical, immunologic, and genetic characterization of human CD27 deficiency. ( 25843314 )
2015
3
CD27 deficiency is associated with combined immunodeficiency and persistent symptomatic EBV viremia. ( 22197273 )
2012

Variations for Autosomal Recessive Lymphoproliferative Disease

Expression for Autosomal Recessive Lymphoproliferative Disease

Search GEO for disease gene expression data for Autosomal Recessive Lymphoproliferative Disease.

Pathways for Autosomal Recessive Lymphoproliferative Disease

Pathways related to Autosomal Recessive Lymphoproliferative Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.77 CD27 ITK

GO Terms for Autosomal Recessive Lymphoproliferative Disease

Sources for Autosomal Recessive Lymphoproliferative Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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