PedAM
Pediatric Disease Annotations & Medicines
| osteopetrosis | ||||
| Disease ID | 36 |
|---|---|
| Disease | osteopetrosis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:49) HP:0003103 | Abnormal cortical bone morphology HP:0001974 | Leukocytosis HP:0000940 | Abnormal diaphysis morphology HP:0002758 | Osteoarthritis HP:0000929 | Abnormality of the skull HP:0000532 | Chorioretinal abnormality HP:0002148 | Hypophosphatemia HP:0000164 | Abnormality of the teeth HP:0005528 | Bone marrow hypocellularity HP:0009830 | Peripheral neuropathy HP:0002716 | Lymphadenopathy HP:0000670 | Carious teeth HP:0005930 | Abnormality of epiphysis morphology HP:0001945 | Fever HP:0002901 | Hypocalcemia HP:0001510 | Growth delay HP:0000504 | Abnormality of vision HP:0100734 | Abnormality of vertebral epiphysis morphology HP:0001744 | Splenomegaly HP:0000967 | Petechiae HP:0001363 | Craniosynostosis HP:0000365 | Hearing impairment HP:0004618 | Sandwich appearance of vertebral bodies HP:0005106 | Abnormality of the vertebral endplates HP:0000925 | Abnormality of the vertebral column HP:0010535 | Sleep apnea HP:0001873 | Thrombocytopenia HP:0006335 | Persistence of primary teeth HP:0000256 | Macrocephaly HP:0001947 | Renal tubular acidosis HP:0004576 | Sclerotic vertebral endplates HP:0002857 | Genu valgum HP:0001641 | Abnormality of the pulmonary valve HP:0006824 | Cranial nerve paralysis HP:0002757 | Recurrent fractures HP:0000639 | Nystagmus HP:0011001 | Increased bone mineral density HP:0000765 | Abnormality of the thorax HP:0011002 | Osteopetrosis HP:0000303 | Mandibular prognathia HP:0004349 | Reduced bone mineral density HP:0009106 | Abnormal pelvis bone ossification HP:0001291 | Abnormality of the cranial nerves HP:0001249 | Intellectual disability HP:0000772 | Abnormality of the ribs HP:0002653 | Bone pain HP:0002721 | Immunodeficiency HP:0000978 | Bruising susceptibility HP:0002754 | Osteomyelitis |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:20) HP:0001941 | acidemia | 3 HP:0002748 | Rickets | 3 HP:0001947 | Renal tubular acidosis | 3 HP:0002754 | Bone infection | 2 HP:0001903 | Anemia | 2 HP:0001433 | Enlarged liver and spleen | 2 HP:0001409 | Portal hypertension | 2 HP:0004322 | Stature below 3rd percentile | 2 HP:0000505 | Poor vision | 2 HP:0001978 | Extramedullary hematopoiesis | 2 HP:0005086 | Knee osteoarthritis | 1 HP:0007099 | Arnold Chiari type I malformation | 1 HP:0000822 | Hypertension | 1 HP:0000939 | Osteoporosis | 1 HP:0002757 | Multiple fractures | 1 HP:0001029 | Poikiloderma | 1 HP:0000924 | Abnormality of the skeletal system | 1 HP:0005528 | Bone marrow hypoplasia | 1 HP:0000968 | Ectodermal dysplasia | 1 HP:0002758 | Osteoarthritis | 1 |
| Disease ID | 36 |
|---|---|
| Disease | osteopetrosis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:37) C2697391 | rheumatoid arthritis C2632116 | stenosis C2613439 | extramedullary hematopoiesis C2364133 | infection C1335944 | sensory manifestations C1290708 | mandibular osteomyelitis C0553669 | nonregenerative anemia C0521694 | retinal atrophy C0520679 | obstructive sleep apnea C0456909 | loss of vision C0455988 | non-immune hydrops fetalis C0270680 | brain stem compression C0235522 | venous disease C0149887 | slipped capital femoral epiphysis C0085078 | lysosomal storage disease C0079774 | peripheral t-cell lymphoma C0040034 | thrombocytopenia C0038018 | spondylolysis C0035579 | rickets C0029443 | osteomyelitis C0029410 | osteoarthritis of the hip C0029410 | hip osteoarthritis C0029410 | coxarthrosis C0029408 | osteoarthritis C0029408 | degenerative osteoarthritis C0024305 | non-hodgkin's lymphoma C0020541 | portal hypertension C0019080 | hemorrhage C0018777 | conductive hearing loss C0015469 | facial paralysis C0015469 | facial palsy C0014544 | epilepsy C0008707 | chronic osteomyelitis C0007815 | cerebrospinal rhinorrhoea C0003881 | arthrodesis C0002878 | haemolytic anaemia C0002871 | anaemia |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:6) C0035579 | rickets | 3 C0018952 | extramedullary hematopoiesis | 2 C0029443 | osteomyelitis | 2 C0020541 | portal hypertension | 2 C0029408 | osteoarthritis | 1 C0149887 | slipped capital femoral epiphysis | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
All Snps(Total Genotypes:6) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121908673 | 16251418 | 4041 | LRP5 | umls:C0029454 | BeFree | Osteoclasts from patients with autosomal dominant osteopetrosis type I caused by a T253I mutation in low-density lipoprotein receptor-related protein 5 are normal in vitro, but have decreased resorption capacity in vivo. | 0.00408156 | 2005 | LRP5 | 11 | 68363818 | C | T |
| rs139329533 | 22419446 | 1186 | CLCN7 | umls:C0029454 | BeFree | Long-term survival in infantile malignant autosomal recessive osteopetrosis secondary to homozygous p.Arg526Gln mutation in CLCN7. | 0.146118009 | 2012 | CLCN7 | 16 | 1450537 | C | T |
| rs387907576 | 23296056 | 1186 | CLCN7 | umls:C0029454 | BeFree | Collectively, our data further indicated that mutation (Y99C) may be a cause of osteopetrosis, and highlights the use of whole exome sequencing as a valuable approach to identifying disease mutations in a cost and time efficient manner. | 0.146118009 | 2013 | CLCN7 | 16 | 1461460 | T | C |
| rs397515539 | 15111300 | 1186 | CLCN7 | umls:C0029454 | BeFree | Characterization of osteoclasts from patients harboring a G215R mutation in ClC-7 causing autosomal dominant osteopetrosis type II. | 0.146118009 | 2004 | CLCN7 | 16 | 1459139 | C | T |
| rs397515539 | 20830208 | 1186 | CLCN7 | umls:C0029454 | BeFree | It is suggested that the scenario found in the CHO model system also applies to the human transporter and that mislocalization rather than impaired functionality of G215R ClC-7 is the primary cause of the related autosomal dominant osteopetrosis type II. | 0.146118009 | 2010 | CLCN7 | 16 | 1459139 | C | T |
| rs397515539 | 19543743 | 1186 | CLCN7 | umls:C0029454 | BeFree | Characteristics of ClC7 Cl- channels and their inhibition in mutant (G215R) associated with autosomal dominant osteopetrosis type II in native osteoclasts and hClcn7 gene-expressing cells. | 0.146118009 | 2009 | CLCN7 | 16 | 1459139 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
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| (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.) |
Chemical(Total Drugs:2) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0029454 | imatinib mesylate | D000068877 | - | osteopetrosis | MESH:D010022 | marker/mechanism | 21586300 | ||
| C0029454 | pamidronate | C019248 | 40391-99-9 | osteopetrosis | MESH:D010022 | marker/mechanism | 16227646 | ||
FDA approved drug and dosage information(Total Drugs:2) | ||||||||
|---|---|---|---|---|---|---|---|---|
| DiseaseID | Drug_name | active_ingredients | strength | Dosage Form/Route | Marketing Status | TE code | RLD | RS |
| MESH:D010022 | gleevec | imatinib mesylate | EQ 50MG BASE Federal Register determination that product was not discontinued or withdrawn for safety or efficacy reasons | CAPSULE;ORAL | Discontinued | None | Yes | No |
| MESH:D010022 | gleevec | imatinib mesylate | EQ 100MG BASE | TABLET;ORAL | Prescription | AB | Yes | No |
FDA labeling changes(Total Drugs:2) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DiseaseID | Pediatric_Labeling_Date | Trade_Name | Generic_Name_or_Proper_Name | Indications Studied | Label Changes Summary | Product Labeling | BPCA(B) | PREA(P) | BPCA(B) and PREA(P) | Pediatric Rule (R) | Sponsor | Pediatric Exclusivity Granted Date | NNPS |
| MESH:D010022 | 09/27/2006 | gleevec | imatinib mesylate | Treatment of newly diagnosed pediatric patients with Philadelphia chromosome positive (Ph+) chronic myeloid leukemia (CML) in chronic phase | Extended age range for the treatment of newly diagnosed CML down to pediatric patients There are no data in children < 2 years of age Follow-up in children with newly diagnosed Ph+ chronic phase CML is limited Information on hematologic toxicities, AE profile, clinical studies and dosing guidelines new for newly diagnosed pediatric patients | Labeling | - | - | B, P | - | Novartis | 9/6/2006 | FALSE' |
| MESH:D010022 | 09/27/2006 | gleevec | imatinib mesylate | Treatment of newly diagnosed pediatric patients with Philadelphia chromosome positive (Ph+) chronic myeloid leukemia (CML) in chronic phase | Extended age range for the treatment of newly diagnosed CML down to pediatric patients There are no data in children < 2 years of age Follow-up in children with newly diagnosed Ph+ chronic phase CML is limited Information on hematologic toxicities, AE profile, clinical studies and dosing guidelines new for newly diagnosed pediatric patients | Labeling | - | - | B, P | - | Novartis | 9/6/2006 | FALSE' |