eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| adenosine deaminase deficiency | ||||
| Disease ID | 1185 |
|---|---|
| Disease | adenosine deaminase deficiency |
| Definition | An autosomal recessive deficiency of the purine salvage enzyme adenosine deaminase which results in Severe Combined Immunodeficiency Disease (SCID). The most common form of SCID, accounting for about 50% of autosomal recessive cases. The first disease for which gene therapy was applied. |
| Synonym | ada - adenosine aminohydrolase deficiency ada deficiency adenosine aminohydrolase deficiency adenosine deaminase deficiency (disorder) adenosine-deaminase deficiency deficiency of adenosine deaminase deficiency of adenosine deaminase (disorder) |
| Orphanet | |
| DOID | |
| UMLS | C0268124 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:11) C0085110 | severe combined immunodeficiency | 5 C0085110 | severe combined immunodefic | 5 C0027947 | neutropenia | 1 C0034050 | alveolar proteinosis | 1 C0034050 | pulmonary alveolar proteinosis | 1 C0014059 | acute disseminated encephalomyelitis | 1 C0021053 | immune disease | 1 C0006277 | bronchitis | 1 C0019158 | hepatitis | 1 C1801959 | omenn syndrome | 1 C0019163 | hepatitis b | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:20) 100 | ADA | 5.648 | DISEASES 204 | AK2 | 3.137 | DISEASES 344 | APOC2 | 2.133 | DISEASES 353 | APRT | 2.503 | DISEASES 959 | CD40LG | 1.119 | DISEASES 2335 | FN1 | 1.501 | DISEASES 2801 | GOLGA2 | 1.507 | DISEASES 3551 | IKBKB | 1.415 | DISEASES 8517 | IKBKG | 2.536 | DISEASES 3561 | IL2RG | 4.298 | DISEASES 51135 | IRAK4 | 3.277 | DISEASES 3718 | JAK3 | 2.512 | DISEASES 378938 | MALAT1 | 1.734 | DISEASES 4615 | MYD88 | 1.933 | DISEASES 170685 | NUDT10 | 2.747 | DISEASES 4942 | OAT | 1.641 | DISEASES 84282 | RNF135 | 2.171 | DISEASES 6241 | RRM2 | 1.866 | DISEASES 51592 | TRIM33 | 1.669 | DISEASES 23038 | WDTC1 | 2.77 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1185 |
|---|---|
| Disease | adenosine deaminase deficiency |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:10) HP:0002721 | Immunodeficiency | 7 HP:0005387 | Combined immunodeficiency | 7 HP:0004430 | Severe combined immunodeficiency | 6 HP:0002960 | Autoimmune condition | 2 HP:0002904 | High blood bilirubin levels | 1 HP:0012387 | Bronchitis | 1 HP:0002837 | Recurrent bronchitis | 1 HP:0012115 | Liver inflammation | 1 HP:0001875 | Neutropenia | 1 HP:0006517 | Alveolar proteinosis | 1 |
| Disease ID | 1185 |
|---|---|
| Disease | adenosine deaminase deficiency |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:10) C2711630 | combined immunodeficiency disease C2678504 | osteoporosis C1548335 | food allergy C0850497 | immune deficiency C0268128 | oroticaciduria C0085110 | severe combined immunodeficiency disease C0085110 | severe combined immunodeficiency C0021053 | immune dysfunction C0021051 | immunodeficiency C0006413 | burkitt's lymphoma |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:3) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:3) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121908725 | 7599635 | 100 | ADA | umls:C0268124 | BeFree | Three new missense mutations (H15D, A83D, and A179D) and a new splicing defect (573 + IG-->A) in the 5' splice site of intron 5 were among six mutant adenosine deaminase (ADA) alleles found in three unrelated patients with severe combined immunodeficiency disease, the most common phenotype associated with ADA deficiency. | 0.006786047 | 1995 | ADA | 20 | 44636279 | G | C |
| rs121908726 | 7599635 | 100 | ADA | umls:C0268124 | BeFree | Three new missense mutations (H15D, A83D, and A179D) and a new splicing defect (573 + IG-->A) in the 5' splice site of intron 5 were among six mutant adenosine deaminase (ADA) alleles found in three unrelated patients with severe combined immunodeficiency disease, the most common phenotype associated with ADA deficiency. | 0.006786047 | 1995 | ADA | 20 | 44626570 | G | T |
| rs121908727 | 7599635 | 100 | ADA | umls:C0268124 | BeFree | Three new missense mutations (H15D, A83D, and A179D) and a new splicing defect (573 + IG-->A) in the 5' splice site of intron 5 were among six mutant adenosine deaminase (ADA) alleles found in three unrelated patients with severe combined immunodeficiency disease, the most common phenotype associated with ADA deficiency. | 0.006786047 | 1995 | ADA | 20 | 44624272 | G | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
| Disease ID | 1185 |
|---|---|
| Disease | adenosine deaminase deficiency |
| Case | (Waiting for update.) |