PedAM
Pediatric Disease Annotations & Medicines
| shwachman-diamond syndrome | ||||
| Disease ID | 804 |
|---|---|
| Disease | shwachman-diamond syndrome |
| Definition | A rare, inherited disorder in which the pancreas and bone marrow do not work the way they should. Symptoms include problems digesting food, a low number of neutrophils (a type of white blood cell), bone problems, and being short. Infants with the disorder get bacterial infections and are at an increased risk of aplastic anemia, myelodysplastic syndrome, and leukemia. |
| Synonym | congenital lipomatosis of pancreas congenital lipomatosis pancreas lipomatosis of pancreas, congenital metaphyseal chondrodysplasia with pancreatic insufficiency and neutropenia metaphyseal chondrodysplasia, shwachman type metaphyseal dysplasia with malabsorption and neutropenia pancreatic insufficiency and bone marrow dysfunction schwachman diamond syndrome schwachman's syndrome schwachman's syndrome (disorder) schwachman-bodian syndrome schwachman-diamond syndrome schwachmann diamond syndrome schwachmann-diamond syndrome schwachmann-diamond syndrome (disorder) shwachman diamond syndrome shwachman syndrome shwachman syndrome (disorder) shwachman's syndrome shwachman-bodian syndrome shwachman-bodian-diamond syndrome shwachman-diamond-oski syndrome |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0272170 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:10) C0030312 | pancytopenia | 2 C0027947 | neutropenia | 2 C0152021 | congenital heart disease | 1 C0018799 | heart disease | 1 C1368107 | bone marrow aplasia | 1 C0011880 | diabetic ketoacidosis | 1 C0001418 | adenocarcinoma | 1 C0281361 | pancreatic adenocarcinoma | 1 C0018799 | heart diseases | 1 C0023895 | liver disease | 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:72) 6343 | SCT | DISEASES 1440 | CSF3 | DISEASES 696 | BTN1A1 | DISEASES 51119 | SBDS | DISEASES 5880 | RAC2 | DISEASES 23647 | ARFIP2 | DISEASES 6117 | RPA1 | DISEASES 51388 | NIP7 | DISEASES 1208 | CLPS | DISEASES 80018 | NAA25 | DISEASES 23678 | SGK3 | DISEASES 945 | CD33 | DISEASES 1991 | ELANE | DISEASES 3938 | LCT | DISEASES 5276 | SERPINI2 | DISEASES 7416 | VDAC1 | DISEASES 6523 | SLC5A1 | DISEASES 91179 | SCARF2 | DISEASES 92579 | G6PC3 | DISEASES 7157 | TP53 | DISEASES 64434 | NOM1 | DISEASES 5651 | TMPRSS15 | DISEASES 2177 | FANCD2 | DISEASES 6781 | STC1 | DISEASES 1990 | CELA1 | DISEASES 6159 | RPL29 | DISEASES 6886 | TAL1 | DISEASES 2672 | GFI1 | DISEASES 2215 | FCGR3B | DISEASES 81501 | DCSTAMP | DISEASES 201161 | CENPV | DISEASES 290 | ANPEP | DISEASES 861 | RUNX1 | DISEASES 8460 | TPST1 | DISEASES 8493 | PPM1D | DISEASES 7015 | TERT | DISEASES 947 | CD34 | DISEASES 6208 | RPS14 | DISEASES 6124 | RPL4 | DISEASES 10456 | HAX1 | DISEASES 654346 | LGALS9C | DISEASES 51065 | RPS27L | DISEASES 10320 | IKZF1 | DISEASES 9939 | RBM8A | DISEASES 885 | CCK | DISEASES 10110 | SGK2 | DISEASES 6731 | SRP72 | DISEASES 2624 | GATA2 | DISEASES 6122 | RPL3 | DISEASES 157680 | VPS13B | DISEASES 4311 | MME | DISEASES 2993 | GYPA | DISEASES 2214 | FCGR3A | DISEASES 2209 | FCGR1A | DISEASES 1736 | DKC1 | DISEASES 6125 | RPL5 | DISEASES 9124 | PDLIM1 | DISEASES 4352 | MPL | DISEASES 1441 | CSF3R | DISEASES 29119 | CTNNA3 | DISEASES 3692 | EIF6 | DISEASES 22852 | ANKRD26 | DISEASES 256297 | PTF1A | DISEASES 2189 | FANCG | DISEASES 2175 | FANCA | DISEASES 23365 | ARHGEF12 | DISEASES 51099 | ABHD5 | DISEASES 26013 | L3MBTL1 | DISEASES 154664 | ABCA13 | DISEASES 6229 | RPS24 | DISEASES 6223 | RPS19 | DISEASES 7012 | TERC | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 804 |
|---|---|
| Disease | shwachman-diamond syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:62) HP:0000907 | Anteriorly splayed ribs HP:0011904 | Persistence of hemoglobin F HP:0001256 | Mild mental retardation HP:0001738 | Exocrine pancreatic insufficiency HP:0004322 | Stature below 3rd percentile HP:0001915 | Aplastic anemia HP:0002812 | Coxa vara HP:0002643 | Respiratory distress, neonatal HP:0004808 | Acute myelogenous leukemia HP:0000964 | Eczema HP:0002910 | Elevated transaminases HP:0001263 | Developmental retardation HP:0005528 | Bone marrow hypocellularity HP:0001263 | Global developmental delay HP:0002570 | Steatorrhea HP:0001508 | Weight faltering HP:0002240 | Enlarged liver HP:0000670 | Carious teeth HP:0000121 | Nephrocalcinosis HP:0006461 | Slipped capilal femoral epiphysis HP:0008064 | Ichthyosis HP:0004322 | Short stature HP:0001510 | Growth delay HP:0002863 | Myelodysplastic syndrome HP:0001909 | Leukemia HP:0000920 | Enlarged costochondral junctions HP:0003016 | Wide metaphyses HP:0002240 | Hepatomegaly HP:0000691 | Microdontia HP:0010306 | Short thorax HP:0011107 | Recurrent aphthous stomatitis HP:0001518 | Small for gestational age HP:0001873 | Thrombocytopenia HP:0002719 | infections, recurrent HP:0001700 | Myocardial necrosis HP:0003411 | Proximal femoral metaphyseal irregularity HP:0002750 | Delayed bone maturation HP:0001876 | Low blood cell count HP:0000768 | Pectus carinatum HP:0002863 | Myelodysplasia HP:0100651 | Type I diabetes mellitus HP:0000938 | Osteopenia HP:0002024 | Malabsorption HP:0001328 | Specific learning disability HP:0004808 | Acute myeloid leukemia HP:0005871 | Metaphyseal chondrodysplasia HP:0001903 | Anemia HP:0001290 | Generalized hypotonia HP:0002650 | Scoliosis HP:0001875 | Neutropenia HP:0000774 | Low chest circumference HP:0003300 | Oval vertebral bodies HP:0008803 | Narrow sacroiliac notch HP:0001249 | Intellectual disability HP:0002719 | Recurrent infections HP:0001873 | Low platelet count HP:0001508 | Failure to thrive HP:0002750 | Delayed skeletal maturation HP:0000944 | Abnormality of the metaphyses HP:0004979 | Metaphyseal sclerosis HP:0001288 | Gait disturbance HP:0006598 | Irregular ossification at anterior rib ends |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:6) |
| Disease ID | 804 |
|---|---|
| Disease | shwachman-diamond syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
All Snps(Total Genotypes:12) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs113993990 | NA | 51119 | SBDS | umls:C0272170 | CLINVAR | NA | 0.492757768 | NA | SBDS;TYW1 | 7 | 66995299 | C | - |
| rs113993991 | NA | 51119 | SBDS | umls:C0272170 | CLINVAR | NA | 0.492757768 | NA | NA | NA | NA | NA | NA |
| rs113993992 | NA | 51119 | SBDS | umls:C0272170 | CLINVAR | NA | 0.492757768 | NA | SBDS | 7 | 66994211 | C | G |
| rs113993993 | NA | 51119 | SBDS | umls:C0272170 | CLINVAR | NA | 0.492757768 | NA | SBDS | 7 | 66994210 | A | G |
| rs113993994 | NA | 51119 | SBDS | umls:C0272170 | CLINVAR | NA | 0.492757768 | NA | SBDS | 7 | 66993376 | TCTT | - |
| rs113993995 | NA | 51119 | SBDS | umls:C0272170 | CLINVAR | NA | 0.492757768 | NA | SBDS | 7 | 66993299 | C | G |
| rs113993996 | NA | 51119 | SBDS | umls:C0272170 | CLINVAR | NA | 0.492757768 | NA | SBDS | 7 | 66991256 | G | C,A |
| rs113993997 | NA | 51119 | SBDS | umls:C0272170 | CLINVAR | NA | 0.492757768 | NA | SBDS | 7 | 66991136 | C | T,G |
| rs113993998 | NA | 51119 | SBDS | umls:C0272170 | CLINVAR | NA | 0.492757768 | NA | SBDS | 7 | 66988472 | G | A |
| rs28942099 | NA | 51119 | SBDS | umls:C0272170 | CLINVAR | NA | 0.492757768 | NA | SBDS;TYW1 | 7 | 66995394 | G | T |
| rs28942099 | 12496757 | 51119 | SBDS | umls:C0272170 | UNIPROT | Mutations in SBDS are associated with Shwachman-Diamond syndrome. | 0.492757768 | 2003 | SBDS;TYW1 | 7 | 66995394 | G | T |
| rs79344818 | 12496757 | 51119 | SBDS | umls:C0272170 | UNIPROT | Mutations in SBDS are associated with Shwachman-Diamond syndrome. | 0.492757768 | 2003 | SBDS | 7 | 66988489 | A | G |
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:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
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.) | |