MCID: ADN077
MIFTS: 25

Adenosine Deaminase 2 Deficiency

Categories: Rare diseases, Skin diseases, Cardiovascular diseases

Aliases & Classifications for Adenosine Deaminase 2 Deficiency

MalaCards integrated aliases for Adenosine Deaminase 2 Deficiency:

Name: Adenosine Deaminase 2 Deficiency 53 25
Polyarteritis Nodosa, Childhood-Onset 53 73
Childhood-Onset Polyarteritis Nodosa 53 25
Sneddon Syndrome 25 73
Ada2 Deficiency 53 25
Dada2 53 25
Vasculitis Due to Ada2 Deficiency 53
Vasculitis Due to Dada2 53
Deficiency of Ada2 25

Classifications:



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ICD10 33 L95.9
UMLS 73 C3887654

Summaries for Adenosine Deaminase 2 Deficiency

NIH Rare Diseases : 53 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 headache, hemiplegia and seizures. An important gene associated with Adenosine Deaminase 2 Deficiency is ADA2 (Adenosine Deaminase 2). Affiliated tissues include skin, liver and spleen.

Genetics Home Reference : 25 Adenosine deaminase 2 (ADA2) deficiency is a disorder characterized by abnormal inflammation of various tissues, particularly the blood vessels (vasculitis). 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

Diseases related to Adenosine Deaminase 2 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 polyarteritis nodosa, childhood-onset 12.6
2 sneddon syndrome 12.5
3 cerebritis 10.1
4 retinitis 10.0
5 vasculitis 10.0
6 polyarteritis nodosa 10.0
7 antiphospholipid syndrome 9.9
8 retinal artery occlusion 9.9
9 hematopoietic stem cell transplantation 9.9
10 paraplegia 9.9
11 spasticity 9.9
12 autoimmune lymphoproliferative syndrome 9.8
13 systemic lupus erythematosus 9.7
14 stroke, ischemic 9.7
15 cranial nerve palsy 9.7
16 lupus erythematosus 9.7
17 cat eye syndrome 9.0 ADA2 IL17RA

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:


headache, hemiplegia, seizures, tremor, ataxia, ophthalmoplegia, agitation, myalgia, 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:

41
Skin, Liver, Spleen

Publications for Adenosine Deaminase 2 Deficiency

Articles related to Adenosine Deaminase 2 Deficiency:

# Title Authors Year
1
Spontaneous bilateral perirenal and splenic haematoma in childhood onset polyarteritis nodosa. ( 29950374 )
2018
2
Adenosine Deaminase 2 Deficiency: More Than Monogenic Vasculitis. ( 28786259 )
2017
3
Novel compound heterozygous variants in CECR1 gene associated with childhood onset polyarteritis nodosa and deficiency of ADA2. ( 27069017 )
2016
4
Stroke as Initial Manifestation of Adenosine Deaminase 2 Deficiency. ( 28024309 )
2016
5
IL-17 receptor AA and adenosine deaminase 2 deficiency in siblings with recurrent infections and chronic inflammation. ( 26607704 )
2016
6
Extending the Clinical Phenotype of Adenosine Deaminase 2 Deficiency. ( 27514238 )
2016
7
Adenosine deaminase 2 deficiency presenting as spastic paraplegia and systemic vasculitis. ( 26914925 )
2016
8
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

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