MCID: ATS229
MIFTS: 18

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 60
Lymphoproliferative Syndrome 2 74
Cd27 Deficiency 60

Characteristics:

Orphanet epidemiological data:

60
autosomal recessive lymphoproliferative disease
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:

Orphanet: 60  
Rare immunological diseases


External Ids:

ICD10 via Orphanet 35 D47.9
Orphanet 60 ORPHA238505
UMLS 74 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. 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:

27
# 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

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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