| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (48.9%) |
2204043 |
Progressive diaphyseal dysplasia: case report and literature review. Aggarwal P, Wali JP, Sharma SK. Orthopedics. 1990;13(8):901-4. |
| Menorrhagia Hepatosplenomegaly Anemia | ||
| Adult Camurati-Engelmann Syndrome Females Homo sapiens Menorrhagia Osteochondrodysplasias | ||
| 2 (33.8%) |
25840575 |
Correlative bone imaging in a case of Schnitzler's syndrome and brief review of the literature. Willekens I, Walgraeve N, Goethals L, De Geeter F. Hell J Nucl Med. 2015;18(1):71-3. |
| Skin rash Recurrent fever Leukocytosis | ||
| Biopsy Bone and Bones Exanthema Homo sapiens Interleukin 1 Receptor Antagonist Protein Leukocytosis Magnetic Resonance Imaging Male Middle Aged Radionuclide Imaging Schnitzler Syndrome Skin Whole Body Imaging | ||
| 3 (27.8%) |
6461731 |
Scintigraphic findings in progressive diaphyseal dysplasia. Lundy MM, Billingsley JL, Redwine MD, Turnbull GL, Brown TJ. J Nucl Med. 1982;23(4):324-5. |
| Splenomegaly | ||
| Bone Diseases, Developmental Bone Marrow Bone and Bones Camurati-Engelmann Syndrome Diphosphonates Homo sapiens Liver Male Radionuclide Imaging Spleen Splenomegaly Technetium | ||
| 4 (26.7%) |
7073346 |
Engelmann's disease of bone--a systemic disorder? Crisp AJ, Brenton DP. Ann Rheum Dis. 1982;41(2):183-8. |
| Hepatosplenomegaly | ||
| Adult Bone Diseases, Developmental Camurati-Engelmann Syndrome Females Homo sapiens Raynaud Disease | ||
| 5 (20.5%) |
8444247 |
Ghosal haemato-diaphyseal dysplasia: a new disorder. Gumruk F, Besim A, Altay C. Eur J Pediatr. 1993;152(3):218-21. |
| Thrombocytopenia Leukopenia | ||
| Anemia Camurati-Engelmann Syndrome Child Child, Preschool Females Femur Homo sapiens Leukopenia Male Thrombocytopenia | ||
| 6 (15.4%) |
29184006 |
Pain improvement in Camurati-Engelmann disease after anti-TNFalpha therapy. Moreira S, Cunha B, Jesus NP, Santos L. BMJ Case Rep. 2017;2017:. |
| Bone pain Ulcerative colitis | ||
| TNF | ||
| Camurati-Engelmann Syndrome Females Gastrointestinal Agents Homo sapiens Middle Aged Tumor Necrosis Factor-alpha Ulcerative Colitis | ||
| 6 (15.4%) |
18514293 |
Acquired Chiari malformation secondary to hyperostosis of the skull: a case report and literature review. Albert L Jr, Hirschfeld A. Surg Neurol. 2009;72(2):157-61. |
| Visual loss Vomiting | ||
| Adult Arnold Chiari Malformation Craniotomy Decompression, Surgical Females Homo sapiens Hyperostosis Intracranial Pressure Magnetic Resonance Imaging X-Ray Computed Tomography | ||
| 6 (15.4%) |
10457303 |
Deflazacort treatment in progressive diaphyseal dysplasia (Camurati-Engelmann disease). Bas F, Darendeliler F, Petorak I, Sadikoglu B, Bilir A, Bundak R, Saka N, Gunoz H. J Paediatr Child Health. 1999;35(4):401-5. |
| Anorexia | ||
| CD4 | ||
| Anti-Inflammatory Agents Camurati-Engelmann Syndrome Child, Preschool Homo sapiens Male Pregnenediones | ||
| 9 (11.2%) |
21541994 (3179308) |
Camurati-Engelmann disease: unique variant featuring a novel mutation in TGFbeta1 encoding transforming growth factor beta 1 and a missense change in TNFSF11 encoding RANK ligand. Whyte MP, Totty WG, Novack DV, Zhang X, Wenkert D, Mumm S. J Bone Miner Res. 2011;26(5):920-33. |
| Hypogonadism Hypocalciuria | ||
| ALPL IGF1 LRP5 SQSTM1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 | ||
| c|DUP|27_38|| c|SUB|C|107|G;RS#:138818878 p|DUP|10,13|L| p|SUB|P|36|R;RS#:138818878 rs138818878 | ||
| Adult Camurati-Engelmann Syndrome Child DNA Mutational Analysis Homo sapiens Infant, Newborn Male Middle Aged Missense Mutation Young Adult | ||
| 9 (11.2%) |
16638728 |
Camurati-Engelmann disease in conjunction with hypogonadism. Gupta S, Cheikh IE. Endocr Pract. 2005;11(6):399-407. |
| Hypogonadism Hyperkalemia | ||
| TGFB1 | ||
| Basal Metabolism Blood Cell Count Camurati-Engelmann Syndrome Homo sapiens Hormones Hypogonadism Liver Function Tests Male Middle Aged Radiography, Thoracic Testis X-Ray Computed Tomography |
Total: 54
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000925 | Abnormality of the vertebral column | Very frequent (99-80%) |
| HP:0000929 | Abnormal skull morphology | Very frequent (99-80%) |
| HP:0000940 | Abnormal diaphysis morphology | Very frequent (99-80%) |
| HP:0002652 | Skeletal dysplasia | Very frequent (99-80%) |
| HP:0002653 | Bone pain | Very frequent (99-80%) |
| HP:0002818 | Abnormality of the radius | Very frequent (99-80%) |
| HP:0002823 | Abnormality of femur morphology | Very frequent (99-80%) |
| HP:0002997 | Abnormality of the ulna | Very frequent (99-80%) |
| HP:0003063 | Abnormality of the humerus | Very frequent (99-80%) |
| HP:0004326 | Cachexia | Very frequent (99-80%) |
| HP:0005464 | Craniofacial osteosclerosis | Very frequent (99-80%) |
| HP:0005791 | Cortical thickening of long bone diaphyses | Very frequent (99-80%) |
| HP:0006501 | Aplasia/Hypoplasia of the radius | Very frequent (99-80%) |
| HP:0012544 | Elevated aldolase level | Very frequent (99-80%) |
| HP:0100774 | Hyperostosis | Very frequent (99-80%) |
| HP:0001324 | Muscle weakness | Frequent (79-30%) |
| HP:0001376 | Limitation of joint mobility | Frequent (79-30%) |
| HP:0002515 | Waddling gait | Frequent (79-30%) |
| HP:0002992 | Abnormality of tibia morphology | Frequent (79-30%) |
| HP:0003202 | Skeletal muscle atrophy | Frequent (79-30%) |
| HP:0100255 | Metaphyseal dysplasia | Frequent (79-30%) |
| HP:0000016 | Urinary retention | Occasional (29-5%) |
| HP:0000135 | Hypogonadism | Occasional (29-5%) |
| HP:0000365 | Hearing impairment | Occasional (29-5%) |
| HP:0000501 | Glaucoma | Occasional (29-5%) |
| HP:0000520 | Proptosis | Occasional (29-5%) |
| HP:0000648 | Optic atrophy | Occasional (29-5%) |
| HP:0000670 | Carious teeth | Occasional (29-5%) |
| HP:0000684 | Delayed eruption of teeth | Occasional (29-5%) |
| HP:0000763 | Sensory neuropathy | Occasional (29-5%) |
| HP:0000823 | Delayed puberty | Occasional (29-5%) |
| HP:0001251 | Ataxia | Occasional (29-5%) |
| HP:0001533 | Slender build | Occasional (29-5%) |
| HP:0001639 | Hypertrophic cardiomyopathy | Occasional (29-5%) |
| HP:0001744 | Splenomegaly | Occasional (29-5%) |
| HP:0001763 | Pes planus | Occasional (29-5%) |
| HP:0001882 | Leukopenia | Occasional (29-5%) |
| HP:0001903 | Anemia | Occasional (29-5%) |
| HP:0001999 | Abnormal facial shape | Occasional (29-5%) |
| HP:0002007 | Frontal bossing | Occasional (29-5%) |
| HP:0002039 | Anorexia | Occasional (29-5%) |
| HP:0002167 | Neurological speech impairment | Occasional (29-5%) |
| HP:0002240 | Hepatomegaly | Occasional (29-5%) |
| HP:0002644 | Abnormality of pelvic girdle bone morphology | Occasional (29-5%) |
| HP:0002650 | Scoliosis | Occasional (29-5%) |
| HP:0002673 | Coxa valga | Occasional (29-5%) |
| HP:0002808 | Kyphosis | Occasional (29-5%) |
| HP:0002857 | Genu valgum | Occasional (29-5%) |
| HP:0003307 | Hyperlordosis | Occasional (29-5%) |
| HP:0003565 | Elevated erythrocyte sedimentation rate | Occasional (29-5%) |
| HP:0007552 | Abnormal subcutaneous fat tissue distribution | Occasional (29-5%) |
| HP:0007807 | Optic nerve compression | Occasional (29-5%) |
| HP:0008872 | Feeding difficulties in infancy | Occasional (29-5%) |
| HP:0010628 | Facial palsy | Occasional (29-5%) |
Total: 28
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0100774 | Hyperostosis | 7 |
| HP:0002515 | Waddling gait | 4 |
| HP:0009763 | Limb pain | 3 |
| HP:0100252 | Diaphyseal dysplasia | 3 |
| HP:0000135 | Hypogonadism | 2 |
| HP:0000362 | Otosclerosis | 2 |
| HP:0001324 | Muscle weakness | 2 |
| HP:0003034 | Diaphyseal sclerosis | 2 |
| HP:0003198 | Myopathy | 2 |
| HP:0007209 | Facial paralysis | 2 |
| HP:0000141 | Amenorrhea | 1 |
| HP:0001085 | Papilledema | 1 |
| HP:0001251 | Ataxia | 1 |
| HP:0001288 | Gait disturbance | 1 |
| HP:0001433 | Hepatosplenomegaly | 1 |
| HP:0001744 | Splenomegaly | 1 |
| HP:0001751 | Vestibular dysfunction | 1 |
| HP:0002652 | Skeletal dysplasia | 1 |
| HP:0002653 | Bone pain | 1 |
| HP:0002749 | Osteomalacia | 1 |
| HP:0008843 | Hip osteoarthritis | 1 |
| HP:0010628 | Facial palsy | 1 |
| HP:0011002 | Osteopetrosis | 1 |
| HP:0030038 | Enchondroma | 1 |
| HP:0030314 | Periostosis | 1 |
| HP:0030433 | Osteoid osteoma | 1 |
| HP:0030838 | Hip pain | 1 |
| HP:0100777 | Exostoses | 1 |