MCID: ATM091
MIFTS: 22

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 59
Tppii-Related Immunodeficiency, Autoimmunity, and Neurodevelopmental Delay with Impaired Glycolysis and Lysosomal Expansion Disease 59
Evans Syndrome Associated with Primary Immunodeficiency 59
Tripeptidyl-Peptidase Ii Deficiency 59
Tripeptidyl Peptidase Ii 13
Tppii Deficiency 59
Triangle Disease 59

Characteristics:

Orphanet epidemiological data:

59
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 colon, and related phenotypes are splenomegaly 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:

59 32 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0001744
2 hepatitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0012115
3 recurrent otitis media 59 32 hallmark (90%) Very frequent (99-80%) HP:0000403
4 lymphopenia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001888
5 stroke 59 32 hallmark (90%) Very frequent (99-80%) HP:0001297
6 moderate global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0011343
7 lymphadenopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0002716
8 hemiparesis 59 32 frequent (33%) Frequent (79-30%) HP:0001269
9 systemic lupus erythematosus 59 32 hallmark (90%) Very frequent (99-80%) HP:0002725
10 autoimmune hemolytic anemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001890
11 autoimmune thrombocytopenia 59 32 obligate (100%) Obligate (100%) HP:0001973
12 respiratory tract infection 59 32 hallmark (90%) Very frequent (99-80%) HP:0011947
13 hemolytic anemia 59 Frequent (79-30%)
14 autoimmunity 59 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:

41
Bone, Colon

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 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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