MCID: ATM091
MIFTS: 20

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 60
Tppii-Related Immunodeficiency, Autoimmunity, and Neurodevelopmental Delay with Impaired Glycolysis and Lysosomal Expansion Disease 60
Evans Syndrome Associated with Primary Immunodeficiency 60
Tripeptidyl-Peptidase Ii Deficiency 60
Tripeptidyl Peptidase Ii 13
Tppii Deficiency 60
Triangle Disease 60

Characteristics:

Orphanet epidemiological data:

60
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:



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 evans' syndrome and oral squamous cell carcinoma. An important gene associated with Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome is TPP2 (Tripeptidyl Peptidase 2). Affiliated tissues include bone, and 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 evans' syndrome 10.2
2 oral squamous cell carcinoma 10.1
3 squamous cell carcinoma 10.1
4 colon adenocarcinoma 10.1
5 adenocarcinoma 10.1

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:

60 33 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 autoimmune thrombocytopenia 60 33 obligate (100%) Obligate (100%) HP:0001973
2 hepatitis 60 33 hallmark (90%) Very frequent (99-80%) HP:0012115
3 recurrent otitis media 60 33 hallmark (90%) Very frequent (99-80%) HP:0000403
4 lymphopenia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001888
5 stroke 60 33 hallmark (90%) Very frequent (99-80%) HP:0001297
6 moderate global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0011343
7 lymphadenopathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0002716
8 systemic lupus erythematosus 60 33 hallmark (90%) Very frequent (99-80%) HP:0002725
9 autoimmune hemolytic anemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001890
10 respiratory tract infection 60 33 hallmark (90%) Very frequent (99-80%) HP:0011947
11 splenomegaly 60 33 frequent (33%) Frequent (79-30%) HP:0001744
12 hemiparesis 60 33 frequent (33%) Frequent (79-30%) HP:0001269
13 hemolytic anemia 60 Frequent (79-30%)
14 autoimmunity 60 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...

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

MalaCards organs/tissues related to Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome:

42
Bone

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

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

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