MCID: ATM091
MIFTS: 18

Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome

Categories: Blood diseases, Bone diseases, Immune diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary...

MalaCards integrated aliases for Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome:

Name: Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome 58 29
Tppii-Related Immunodeficiency, Autoimmunity, and Neurodevelopmental Delay with Impaired Glycolysis and Lysosomal Expansion Disease 58
Evans Syndrome Associated with Primary Immunodeficiency 58
Tripeptidyl-Peptidase Ii Deficiency 58
Tppii Deficiency 58
Triangle Disease 58

Characteristics:

Orphanet epidemiological data:

58
autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy; Age of death: early childhood,late childhood;

Classifications:

Orphanet: 58  
Rare systemic and rhumatological diseases
Rare immunological diseases


Summaries for Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary...

MalaCards based summary : Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome, also known as tppii-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease, is related to immune deficiency disease and alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity. An important gene associated with Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome is TPP2 (Tripeptidyl Peptidase 2). Related phenotypes are autoimmune thrombocytopenia and hepatitis

Related Diseases for Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary...

Diseases related to Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 immune deficiency disease 10.2
2 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.2
3 immunodeficiency 78 with autoimmunity and developmental delay 10.2
4 neutropenia 10.2
5 evans' syndrome 10.2

Graphical network of the top 20 diseases related to Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome:



Diseases related to Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome

Symptoms & Phenotypes for Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary...

Human phenotypes related to Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome:

58 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 autoimmune thrombocytopenia 58 31 obligate (100%) Obligate (100%) HP:0001973
2 hepatitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0012115
3 recurrent otitis media 58 31 hallmark (90%) Very frequent (99-80%) HP:0000403
4 lymphopenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001888
5 stroke 58 31 hallmark (90%) Very frequent (99-80%) HP:0001297
6 moderate global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0011343
7 lymphadenopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0002716
8 respiratory tract infection 58 31 hallmark (90%) Very frequent (99-80%) HP:0011947
9 autoimmune hemolytic anemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001890
10 systemic lupus erythematosus 58 31 hallmark (90%) Very frequent (99-80%) HP:0002725
11 splenomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0001744
12 hemiparesis 58 31 frequent (33%) Frequent (79-30%) HP:0001269
13 autoimmunity 58 Frequent (79-30%)
14 hemolytic anemia 58 Frequent (79-30%)

Drugs & Therapeutics for Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary...

Search Clinical Trials , NIH Clinical Center for Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome

Genetic Tests for Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary...

Genetic tests related to Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome:

# Genetic test Affiliating Genes
1 Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome 29

Anatomical Context for Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary...

Publications for Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary...

Articles related to Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome:

# Title Authors PMID Year
1
Early-onset Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency. 61
25414442 2015

Variations for Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary...

Expression for Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary...

Search GEO for disease gene expression data for Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome.

Pathways for Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary...

GO Terms for Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary...

Sources for Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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