PedAM
Pediatric Disease Annotations & Medicines
| severe combined immunodeficiency | ||||
| Disease ID | 126 |
|---|---|
| Disease | severe combined immunodeficiency |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:54) C2707258 | infections C2364133 | infection C2363741 | hiv-1 infection C1962971 | myocarditis C1961102 | acute lymphoblastic leukemias C1855471 | lymphokine deficiency C1839611 | n syndrome C1609516 | necrotizing retinitis C1512411 | hepatocellular carcinoma C1458155 | breast tumors C1336745 | thymic lymphoma C1264606 | persistent infection C0869523 | carditis C0860040 | bcg infection C0856825 | acute gvhd C0796561 | melanoma C0717360 | lyme disease C0684249 | lung cancer C0677886 | ovarian carcinoma C0424755 | fever C0267375 | chronic colitis C0220754 | biotinidase deficiency C0206061 | interstitial pneumonia C0085669 | acute leukemias C0085669 | acute leukemia C0079731 | b-cell lymphomas C0079731 | b-cell lymphoma C0078048 | varicella C0042769 | virus infection C0042721 | virus hepatitis C0039538 | teratomas C0032305 | pneumocystis carinii pneumonia C0032285 | pneumonitis C0029443 | osteomyelitis C0026987 | myelofibrosis C0026916 | mycobacterium avium infection C0026896 | myasthenia gravis C0025202 | melanomas C0024312 | lymphocytopenia C0024299 | lymphoma C0024198 | lyme borreliosis C0023418 | leukemia C0021841 | intestinal tumors C0019158 | hepatitis C0018133 | graft-versus-host disease C0018133 | graft versus host disease C0017638 | glioma C0017168 | gastroesophageal reflux C0014733 | erysipelas C0011616 | contact sensitivity C0010823 | cytomegalovirus infection C0008513 | chorioretinitis C0006413 | burkitt's lymphoma C0005940 | bone disease |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:14) C0009450 | infection | 4 C0039538 | teratomas | 4 C0023418 | leukemia | 3 C0024299 | lymphoma | 2 C0042769 | virus infection | 2 C0079731 | b-cell lymphoma | 1 C0018133 | graft-versus-host disease | 1 C0860040 | bcg infection | 1 C0024312 | lymphocytopenia | 1 C0376358 | prostate cancer | 1 C0021311 | infections | 1 C0010823 | cytomegalovirus infection | 1 C0011847 | diabetes | 1 C1839611 | n syndrome | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:30) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104894287 | 18592361 | 5896 | RAG1 | umls:C0085110 | BeFree | These presentations are consistent with atypical severe combined immunodeficiency (SCID)/Omenn Syndrome and the diagnosis was confirmed by demonstration of homozygosity for the R841W mutation in the catalytic core of RAG1. | 0.145684746 | 2008 | RAG1 | 11 | 36575825 | C | T |
| rs104894421 | 20133615 | 3981 | LIG4 | umls:C0085110 | BeFree | Homozygous DNA ligase IV R278H mutation in mice leads to leaky SCID and represents a model for human LIG4 syndrome. | 0.009172942 | 2010 | LIG4 | 13 | 108210436 | C | T |
| rs112431538 | 24077944 | 7157 | TP53 | umls:C0085110 | BeFree | Sequencing of OANC1 DNA identified homozygous TP53 missense (c.856G[A, p.E286K)and SMAD4 nonsense (c.1333C[T, p.R445X) mutations.OANC1 are tumorigenic when injected sub-cutaneously into SCID mice and xenografts were positive for columnar, glandular and intestinal epithelial markers commonly expressed in EAC. | 0.002171535 | 2013 | TP53 | 17 | 7673767 | C | T |
| rs112431538 | 24077944 | 4089 | SMAD4 | umls:C0085110 | BeFree | Sequencing of OANC1 DNA identified homozygous TP53 missense (c.856G[A, p.E286K)and SMAD4 nonsense (c.1333C[T, p.R445X) mutations.OANC1 are tumorigenic when injected sub-cutaneously into SCID mice and xenografts were positive for columnar, glandular and intestinal epithelial markers commonly expressed in EAC. | 0.000271442 | 2013 | TP53 | 17 | 7673767 | C | T |
| rs121908721 | NA | 100 | ADA | umls:C0085110 | CLINVAR | NA | 0.151954196 | NA | ADA | 20 | 44621121 | G | C,A |
| rs121908725 | 7599635 | 100 | ADA | umls:C0085110 | 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. | 0.151954196 | 1995 | ADA | 20 | 44636279 | G | C |
| rs121908726 | 7599635 | 100 | ADA | umls:C0085110 | 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. | 0.151954196 | 1995 | ADA | 20 | 44626570 | G | T |
| rs121908727 | 7599635 | 100 | ADA | umls:C0085110 | 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. | 0.151954196 | 1995 | ADA | 20 | 44624272 | G | T |
| rs121917894 | 17476358 | 5897 | RAG2 | umls:C0085110 | BeFree | In order to better define the molecular and cellular pathophysiology of OS, we generated a knockin murine model carrying the Rag2 R229Q mutation previously described in several patients with OS and leaky forms of SCID. | 0.138607394 | 2007 | RAG2;C11orf74 | 11 | 36593483 | C | T,A |
| rs137852624 | 10075926 | 3718 | JAK3 | umls:C0085110 | BeFree | Here we describe a naturally occurring Jak3 mutation from a patient with autosomal severe combined immunodeficiency (SCID), where a single amino acid substitution, Y100C, in Janus homology domain 7 (JH7) prevents kinase-receptor interaction. | 0.141583323 | 1999 | JAK3 | 19 | 17843786 | T | C |
| rs148001159 | NA | 3575 | IL7R | umls:C0085110 | CLINVAR | NA | 0.125895776 | NA | IL7R | 5 | 35860983 | G | C |
| rs148508754 | NA | 5897 | RAG2 | umls:C0085110 | CLINVAR | NA | 0.138607394 | NA | RAG2;C11orf74 | 11 | 36594065 | C | G |
| rs193922361 | NA | 3718 | JAK3 | umls:C0085110 | CLINVAR | NA | 0.141583323 | NA | JAK3 | 19 | 17837171 | G | A |
| rs193922362 | NA | 3718 | JAK3 | umls:C0085110 | CLINVAR | NA | 0.141583323 | NA | JAK3 | 19 | 17837148 | G | A |
| rs193922364 | NA | 3718 | JAK3 | umls:C0085110 | CLINVAR | NA | 0.141583323 | NA | JAK3 | 19 | 17842498 | AG | - |
| rs193922462 | NA | 5896 | RAG1 | umls:C0085110 | CLINVAR | NA | 0.145684746 | NA | RAG1 | 11 | 36575907 | C | T |
| rs193922464 | NA | 5896 | RAG1 | umls:C0085110 | CLINVAR | NA | 0.145684746 | NA | RAG1 | 11 | 36573626 | C | G,T |
| rs193922573 | NA | 5897 | RAG2 | umls:C0085110 | CLINVAR | NA | 0.138607394 | NA | RAG2;C11orf74 | 11 | 36592860 | C | T |
| rs193922574 | NA | 5897 | RAG2 | umls:C0085110 | CLINVAR | NA | 0.138607394 | NA | RAG2;C11orf74 | 11 | 36593952 | G | A |
| rs193922575 | NA | 5897 | RAG2 | umls:C0085110 | CLINVAR | NA | 0.138607394 | NA | RAG2;C11orf74 | 11 | 36593841 | T | G,C |
| rs193922640 | NA | 3575 | IL7R | umls:C0085110 | CLINVAR | NA | 0.125895776 | NA | IL7R | 5 | 35867364 | - | ATATATTTCA |
| rs193922641 | NA | 3575 | IL7R | umls:C0085110 | CLINVAR | NA | 0.125895776 | NA | IL7R | 5 | 35867437 | G | A |
| rs193922642 | NA | 3575 | IL7R | umls:C0085110 | CLINVAR | NA | 0.125895776 | NA | IL7R | 5 | 35873481 | A | C |
| rs193922643 | NA | 3575 | IL7R | umls:C0085110 | CLINVAR | NA | 0.125895776 | NA | NA | NA | NA | NA | NA |
| rs193922644 | NA | 3575 | IL7R | umls:C0085110 | CLINVAR | NA | 0.125895776 | NA | IL7R | 5 | 35873559 | G | A,T |
| rs193922645 | NA | 3575 | IL7R | umls:C0085110 | CLINVAR | NA | 0.125895776 | NA | IL7R | 5 | 35873586 | G | T |
| rs193922647 | NA | 3575 | IL7R | umls:C0085110 | CLINVAR | NA | 0.125895776 | NA | IL7R | 5 | 35875988 | A | C |
| rs377767360 | 24077944 | 4089 | SMAD4 | umls:C0085110 | BeFree | Sequencing of OANC1 DNA identified homozygous TP53 missense (c.856G[A, p.E286K)and SMAD4 nonsense (c.1333C[T, p.R445X) mutations.OANC1 are tumorigenic when injected sub-cutaneously into SCID mice and xenografts were positive for columnar, glandular and intestinal epithelial markers commonly expressed in EAC. | 0.000271442 | 2013 | SMAD4 | 18 | 51076662 | C | T |
| rs377767360 | 24077944 | 7157 | TP53 | umls:C0085110 | BeFree | Sequencing of OANC1 DNA identified homozygous TP53 missense (c.856G[A, p.E286K)and SMAD4 nonsense (c.1333C[T, p.R445X) mutations.OANC1 are tumorigenic when injected sub-cutaneously into SCID mice and xenografts were positive for columnar, glandular and intestinal epithelial markers commonly expressed in EAC. | 0.002171535 | 2013 | SMAD4 | 18 | 51076662 | C | T |
| rs41297018 | NA | 64421 | DCLRE1C | umls:C0085110 | CLINVAR | NA | 0.132072926 | NA | DCLRE1C | 10 | 14935470 | C | T,A |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0012191 | B-cell lymphoma | MP:0002023 | increased B cell derived lymphoma incidence;HP:0001402 | Hepatocellular carcinoma |
Mapped by homologous gene(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002861 | Melanoma | MP:0001648 | abnormal apoptosis;HP:0002665 | Lymphoma |
Chemical(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA approved drug and dosage information(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
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| (Waiting for update.) | |