| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (55.1%) |
23329773 |
Infantile malignant osteopetrosis: a rare cause of neonatal hypocalcemia. Engiz O, Kara S, Bagrul D, Lahr G, Alioglu B, Arikan I, Bilge YD. J Pediatr Endocrinol Metab. 2012;25(11-12):1205-7. |
| Hepatosplenomegaly Anemia Hypocalcemia | ||
| TCIRG1 | ||
| Bone and Bones Homo sapiens Hypocalcemia Infant, Newborn Male Missense Mutation Optic Nerve Osteopetrosis | ||
| 1 (55.1%) |
12574970 |
Malignant infantile osteopetrosis initially presenting with neonatal hypocalcemia: case report. Chen CJ, Lee MY, Hsu ML, Lien SH, Cheng SN. Ann Hematol. 2003;82(1):64-7. |
| Hepatosplenomegaly Anemia Hypocalcemia | ||
| Homo sapiens Hypocalcemia Infant, Newborn Magnetic Resonance Imaging Male Optic Nerve Osteopetrosis Seizures Tomography, X-Ray Vision Disorders | ||
| 3 (48.0%) |
16774187 |
Familial malignant osteopetrosis in children: a case report. Gomes MF, Rangel DC, Starling CC, Goulart Md. Spec Care Dentist. 2006;26(3):106-10. |
| Petechiae Splenomegaly Hypocalcemia | ||
| Child Child, Preschool Craniofacial Abnormalities Fatal Outcome Homo sapiens Male Mandibular Diseases Maxillary Diseases Osteopetrosis Purpura | ||
| 4 (38.0%) |
18946580 |
Rare gross deletion in T-cell immune regulator-1 gene in Iranian family with infantile malignant osteopetrosis. Abbaszadegan MR, Modarresi A, Khadivi-Zand F, Velayati A. Saudi Med J. 2008;29(10):1494-6. |
| Macrocephaly Hepatosplenomegaly Pancytopenia | ||
| TCIRG1 | ||
| Child, Preschool Females Gene Deletion Homo sapiens Iran Osteopetrosis | ||
| 4 (38.0%) |
15249921 |
Autosomal malignant osteopetrosis. From diagnosis to therapy. Mohn A, Capanna R, Delli Pizzi C, Morgese G, Chiarelli F. Minerva Pediatr. 2004;56(1):115-8. |
| Blindness Hepatosplenomegaly Pancytopenia | ||
| Anti-Infective Agents Homo sapiens Infant Male Osteopetrosis | ||
| 6 (31.4%) |
22828766 |
Infantile malignant osteopetrosis: report of 2 cases with osteomyelitis of the jaws. Sekerci AE, Sisman Y, Ertas ET, Sahman H, Aydinbelge M. J Dent Child (Chic). 2012;79(2):93-9. |
| Anemia Osteomyelitis | ||
| Child Child, Preschool Fatal Outcome Homo sapiens Male Maxilla Osteomyelitis Osteopetrosis Panoramic Radiography | ||
| 7 (27.2%) |
6986555 |
Successful bone-marrow transplantation for infantile malignant osteopetrosis. Coccia PF, Krivit W, Cervenka J, Clawson C, Kersey JH, Kim TH, Nesbit ME, Ramsay NK, Warkentin PI, Teitelbaum SL, Kahn AJ, Brown DM. N Engl J Med. 1980;302(13):701-8. |
| Thrombocytopenia Anemia | ||
| Blood Bactericidal Activity Bone Marrow Bone Marrow Transplantation Bone Resorption Cartilage Child, Preschool Females Homo sapiens Infant Major Histocompatibility Complex Male Monocytes Osteoblasts Osteoclasts Osteopetrosis Y Chromosome | ||
| 8 (26.7%) |
25335998 |
Osteopetrosis mimicking juvenile myelomonocytic leukemia. Hoyoux C, Dresse MF, Forget P, Piette C, Rausin L, Villa A, Gothot A, Florkin B. Pediatr Int. 2014;56(5):779-82. |
| Elevated alkaline phosphatase Monocytosis | ||
| CBL KRAS NRAS PTPN11 TCIRG1 | ||
| Differential Diagnosis Homo sapiens Infant Juvenile Myelomonocytic Leukemia Male Osteopetrosis | ||
| 9 (16.3%) |
25504019 |
A fatal case of infantile malignant osteopetrosis complicated by pulmonary arterial hypertension after hematopoietic stem cell transplantation. Kuroyanagi Y, Kawasaki H, Noda Y, Ohmachi T, Sekiya S, Yoshimura K, Ohe C, Michigami T, Ozono K, Kaneko K. Tohoku J Exp Med. 2014;234(4):309-12. |
| Extramedullary hematopoiesis | ||
| TCIRG1 | ||
| c|DEL||CA | ||
| Base Sequence DNA Mutational Analysis Fatal Outcome Homo sapiens Infant Male Molecular Sequence Data Osteopetrosis Postmortem Changes Pulmonary Hypertension | ||
| 10 (11.2%) |
21042819 |
Novel mutation of TCIRG1 and clinical pictures of two infantile malignant osteopetrosis patients. Yuan P, Yue Z, Sun L, Huang W, Hu B, Yang Z, Hu Y, Xiao H, Shi H, Zhou Q, Wang Y. J Bone Miner Metab. 2011;29(2):251-6. |
| Fever | ||
| TCIRG1 | ||
| c|DEL|242|C c|SUB|C|1114|T;RS#:776436008 p|FS|P|81|R|85 p|SUB|Q|372|X;RS#:776436008 rs1208311085 | ||
| Homo sapiens Infant, Newborn Mutation Osteopetrosis |
Total: 43
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000238 | Hydrocephalus | Very frequent (99-80%) |
| HP:0000256 | Macrocephaly | Very frequent (99-80%) |
| HP:0000365 | Hearing impairment | Very frequent (99-80%) |
| HP:0000388 | Otitis media | Very frequent (99-80%) |
| HP:0000505 | Visual impairment | Very frequent (99-80%) |
| HP:0000639 | Nystagmus | Very frequent (99-80%) |
| HP:0000649 | Abnormality of visual evoked potentials | Very frequent (99-80%) |
| HP:0000684 | Delayed eruption of teeth | Very frequent (99-80%) |
| HP:0000772 | Abnormality of the ribs | Very frequent (99-80%) |
| HP:0000774 | Narrow chest | Very frequent (99-80%) |
| HP:0000944 | Abnormality of the metaphysis | Very frequent (99-80%) |
| HP:0000980 | Pallor | Very frequent (99-80%) |
| HP:0001337 | Tremor | Very frequent (99-80%) |
| HP:0001363 | Craniosynostosis | Very frequent (99-80%) |
| HP:0001510 | Growth delay | Very frequent (99-80%) |
| HP:0001744 | Splenomegaly | Very frequent (99-80%) |
| HP:0001903 | Anemia | Very frequent (99-80%) |
| HP:0001939 | Abnormality of metabolism/homeostasis | Very frequent (99-80%) |
| HP:0002205 | Recurrent respiratory infections | Very frequent (99-80%) |
| HP:0002240 | Hepatomegaly | Very frequent (99-80%) |
| HP:0002257 | Chronic rhinitis | Very frequent (99-80%) |
| HP:0002653 | Bone pain | Very frequent (99-80%) |
| HP:0002716 | Lymphadenopathy | Very frequent (99-80%) |
| HP:0002757 | Recurrent fractures | Very frequent (99-80%) |
| HP:0004349 | Reduced bone mineral density | Very frequent (99-80%) |
| HP:0004370 | Abnormality of temperature regulation | Very frequent (99-80%) |
| HP:0005930 | Abnormality of epiphysis morphology | Very frequent (99-80%) |
| HP:0006323 | Premature loss of primary teeth | Very frequent (99-80%) |
| HP:0006487 | Bowing of the long bones | Very frequent (99-80%) |
| HP:0007807 | Optic nerve compression | Very frequent (99-80%) |
| HP:0008066 | Abnormal blistering of the skin | Very frequent (99-80%) |
| HP:0010543 | Opsoclonus | Very frequent (99-80%) |
| HP:0010719 | Abnormality of hair texture | Very frequent (99-80%) |
| HP:0011002 | Osteopetrosis | Very frequent (99-80%) |
| HP:0100022 | Abnormality of movement | Very frequent (99-80%) |
| HP:0000978 | Bruising susceptibility | Occasional (29-5%) |
| HP:0001641 | Abnormal pulmonary valve morphology | Occasional (29-5%) |
| HP:0002092 | Pulmonary arterial hypertension | Occasional (29-5%) |
| HP:0002104 | Apnea | Occasional (29-5%) |
| HP:0002148 | Hypophosphatemia | Occasional (29-5%) |
| HP:0002901 | Hypocalcemia | Occasional (29-5%) |
| HP:0004415 | Pulmonary artery stenosis | Occasional (29-5%) |
| HP:0006824 | Cranial nerve paralysis | Occasional (29-5%) |
Total: 7
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000546 | Retinal degeneration | 1 |
| HP:0000572 | Visual loss | 1 |
| HP:0002748 | Rickets | 1 |
| HP:0002901 | Hypocalcemia | 1 |
| HP:0007626 | Mandibular osteomyelitis | 1 |
| HP:0011002 | Osteopetrosis | 1 |
| HP:0200065 | Chorioretinal degeneration | 1 |