loading...| Preferred Name | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | |
| Synonyms |
SCID DUE TO ADA DEFICIENCY, DELAYED ONSET SCID DUE TO ADA DEFICIENCY, EARLY-ONSET ADA-SCID PARTIAL ADA DEFICIENCY SCID DUE TO ADA DEFICIENCY, LATE-ONSET SCID DUE TO ADA DEFICIENCY ADENOSINE DEAMINASE DEFICIENCY, PARTIAL |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/102700 |
|
| altLabel |
SCID DUE TO ADA DEFICIENCY, DELAYED ONSET SCID DUE TO ADA DEFICIENCY, EARLY-ONSET ADA-SCID PARTIAL ADA DEFICIENCY SCID DUE TO ADA DEFICIENCY, LATE-ONSET SCID DUE TO ADA DEFICIENCY ADENOSINE DEAMINASE DEFICIENCY, PARTIAL |
|
| cui |
C0392607 C1863236 C1863239 |
|
| Gene Locus |
20q13.11 |
|
| Gene Symbol |
ADA |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU001744 http://purl.bioontology.org/ontology/OMIM/MTHU002424 http://purl.bioontology.org/ontology/OMIM/MTHU019707 http://purl.bioontology.org/ontology/OMIM/MTHU019702 http://purl.bioontology.org/ontology/OMIM/MTHU019706 http://purl.bioontology.org/ontology/OMIM/MTHU019698 http://purl.bioontology.org/ontology/OMIM/MTHU026728 http://purl.bioontology.org/ontology/OMIM/MTHU019704 http://purl.bioontology.org/ontology/OMIM/MTHU019703 http://purl.bioontology.org/ontology/OMIM/MTHU000226 http://purl.bioontology.org/ontology/OMIM/MTHU019697 http://purl.bioontology.org/ontology/OMIM/MTHU005053 http://purl.bioontology.org/ontology/OMIM/MTHU019709 http://purl.bioontology.org/ontology/OMIM/MTHU002638 http://purl.bioontology.org/ontology/OMIM/MTHU019694 http://purl.bioontology.org/ontology/OMIM/MTHU006272 http://purl.bioontology.org/ontology/OMIM/MTHU019701 http://purl.bioontology.org/ontology/OMIM/MTHU019696 http://purl.bioontology.org/ontology/OMIM/MTHU006263 http://purl.bioontology.org/ontology/OMIM/MTHU019710 http://purl.bioontology.org/ontology/OMIM/MTHU003537 http://purl.bioontology.org/ontology/OMIM/MTHU019708 http://purl.bioontology.org/ontology/OMIM/MTHU036371 http://purl.bioontology.org/ontology/OMIM/MTHU019705 http://purl.bioontology.org/ontology/OMIM/MTHU000081 http://purl.bioontology.org/ontology/OMIM/MTHU019699 http://purl.bioontology.org/ontology/OMIM/MTHU006260 http://purl.bioontology.org/ontology/OMIM/MTHU016658 http://purl.bioontology.org/ontology/OMIM/MTHU000585 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
102700 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY |
|
| Scope Statement |
Caused by mutation in the adenosine deaminase gene (ADA, 608958.0001) [MOLECULAR BASIS] Recurrent bacterial, viral, and fungal infections [MISCELLANEOUS] 85-90% with manifestations in first months of life [MISCELLANEOUS] Late onset combined immunodeficiency with allelic variant 102700.0020 [MISCELLANEOUS] 10-15% with primarily defects of cellular immunity, not manifesting until >2yrs of age [MISCELLANEOUS] Treatment with polyethylene glycol-modified bovine ADA, bone marrow transplantation, and/or gene therapy [MISCELLANEOUS] |
|
| tui |
T047 |