DADA2
MCID: ADN077
MIFTS: 26

Adenosine Deaminase 2 Deficiency (DADA2)

Categories: Cardiovascular diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Adenosine Deaminase 2 Deficiency

MalaCards integrated aliases for Adenosine Deaminase 2 Deficiency:

Name: Adenosine Deaminase 2 Deficiency 54 26
Polyarteritis Nodosa, Childhood-Onset 54 74
Childhood-Onset Polyarteritis Nodosa 54 26
Sneddon Syndrome 26 74
Ada2 Deficiency 54 26
Dada2 54 26
Vasculitis Due to Ada2 Deficiency 54
Vasculitis Due to Dada2 54
Deficiency of Ada2 26

Classifications:



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Summaries for Adenosine Deaminase 2 Deficiency

NIH Rare Diseases : 54 Adenosine Deaminase 2 deficiency is an inherited disorder causing inflammation in the body, especially in the tissues that make up the blood vessels (vasculitis). Though the severity and age of onset can vary, most patients begin having symptoms within the first decade of life. Symptoms may include the following: recurrent strokes, fevers, muscle pain, an enlarged liver or spleen, and areas of skin discoloration known as livedo racemosa or livedo reticularis. The strokes can affect physical or cognitive functioning. Other symptoms may include high blood pressure, aneurysms, immune system abnormalities, and necrosis of the fingers/toes. ADA2 deficiency is thought to be caused by mutations in the CECR1 gene and inherited in an autosomal recessive manner. Mutations in the CECR1 gene have also been associated with a familial form of Sneddon syndrome. Individuals with this form of Sneddon syndrome have been reported to have similar findings as those with ADA2 deficiency but with a later onset. 

MalaCards based summary : Adenosine Deaminase 2 Deficiency, also known as polyarteritis nodosa, childhood-onset, is related to polyarteritis nodosa, childhood-onset and sneddon syndrome, and has symptoms including seizures, ataxia and tremor. An important gene associated with Adenosine Deaminase 2 Deficiency is IL17RA (Interleukin 17 Receptor A). Affiliated tissues include skin, liver and spleen.

Genetics Home Reference : 26 Adenosine deaminase 2 (ADA2) deficiency is a disorder characterized by abnormal inflammation of various tissues. Signs and symptoms can begin anytime from early childhood to adulthood. The severity of the disorder also varies, even among affected individuals in the same family.

Related Diseases for Adenosine Deaminase 2 Deficiency

Graphical network of the top 20 diseases related to Adenosine Deaminase 2 Deficiency:



Diseases related to Adenosine Deaminase 2 Deficiency

Symptoms & Phenotypes for Adenosine Deaminase 2 Deficiency

UMLS symptoms related to Adenosine Deaminase 2 Deficiency:


seizures, ataxia, tremor, myalgia, ophthalmoplegia, agitation, headache, hemiplegia, gastrointestinal pain, recurrent fevers

Drugs & Therapeutics for Adenosine Deaminase 2 Deficiency

Search Clinical Trials , NIH Clinical Center for Adenosine Deaminase 2 Deficiency

Genetic Tests for Adenosine Deaminase 2 Deficiency

Anatomical Context for Adenosine Deaminase 2 Deficiency

MalaCards organs/tissues related to Adenosine Deaminase 2 Deficiency:

42
Skin, Liver, Spleen

Publications for Adenosine Deaminase 2 Deficiency

Articles related to Adenosine Deaminase 2 Deficiency:

# Title Authors Year
1
Human adenosine deaminase 2 deficiency: A multi-faceted inborn error of immunity. ( 30565235 )
2019
2
Spontaneous bilateral perirenal and splenic haematoma in childhood onset polyarteritis nodosa. ( 29950374 )
2018
3
Chronic leg ulcer revealing adenosine deaminase 2 deficiency: an atypical presentation. ( 30514670 )
2018
4
Adenosine Deaminase 2 Deficiency: More Than Monogenic Vasculitis. ( 28786259 )
2017
5
Novel compound heterozygous variants in CECR1 gene associated with childhood onset polyarteritis nodosa and deficiency of ADA2. ( 27069017 )
2016
6
Stroke as Initial Manifestation of Adenosine Deaminase 2 Deficiency. ( 28024309 )
2016
7
IL-17 receptor AA and adenosine deaminase 2 deficiency in siblings with recurrent infections and chronic inflammation. ( 26607704 )
2016
8
Extending the Clinical Phenotype of Adenosine Deaminase 2 Deficiency. ( 27514238 )
2016
9
Adenosine deaminase 2 deficiency presenting as spastic paraplegia and systemic vasculitis. ( 26914925 )
2016
10
Hematopoietic stem cell transplantation rescues the immunologic phenotype and prevents vasculopathy in patients with adenosine deaminase 2 deficiency. ( 25457153 )
2015

Variations for Adenosine Deaminase 2 Deficiency

Expression for Adenosine Deaminase 2 Deficiency

Search GEO for disease gene expression data for Adenosine Deaminase 2 Deficiency.

Pathways for Adenosine Deaminase 2 Deficiency

GO Terms for Adenosine Deaminase 2 Deficiency

Sources for Adenosine Deaminase 2 Deficiency

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
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75 UMLS via Orphanet
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