| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (39.3%) |
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. |
| Osteomalacia Torus palatinus | ||
| 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 | ||
| 2 (39.0%) |
28137547 |
Repeat Intracranial Expansion After Skull Regrowth in Hyperostotic Disease: Technical Note. Wong T, Herschman Y, Patel NV, Patel T, Hanft S. World Neurosurg. 2017;102:555-560. |
| Cranial hyperostosis | ||
| Camurati-Engelmann Syndrome Craniotomy Decompression, Surgical Females Homo sapiens Hyperostosis Middle Aged Postoperative Care Postoperative Complications Surgical Flaps X-Ray Computed Tomography | ||
| 2 (39.0%) |
19203363 (2651856) |
Professional awareness is needed to distinguish between child physical abuse from other disorders that can mimic signs of abuse (Skull base sclerosis in infant manifesting features of infantile cortical hyperostosis): a case report and review of the literature. Al Kaissi A, Petje G, De Brauwer V, Grill F, Klaushofer K. Cases J. 2009;2(1):133. |
| Sclerosis of skull base | ||
| 2 (39.0%) |
14564212 |
Macrocephaly and sclerosis of the tubular bones in an isolated patient: a mild case of craniodiaphyseal dysplasia? Janssens K, Thompson E, Vanhoenacker F, Savarirayan R, Morris L, Dobbie A, Van Hul W. Clin Dysmorphol. 2003;12(4):245-50. |
| Macrocephaly | ||
| LRP5 SOST TGFB1 | ||
| Adaptor Proteins, Signal Transducing Bone Morphogenetic Proteins Camurati-Engelmann Syndrome Craniofacial Abnormalities Females Genetic Markers Homo sapiens Hyperostosis LDL-Receptor Related Proteins Low Density Lipoprotein Receptor Low Density Lipoprotein Receptor-Related Protein-5 Middle Aged Severity of Illness Index Transforming Growth Factor beta | ||
| 5 (37.8%) |
16446922 |
Rare osteodysplasia of the temporal bone. Antunes ML, Testa JR, Frazatto R, Barberi JA, Silva RF. Braz J Otorhinolaryngol. 2005;71(2):228-32. |
| Facial palsy Osteopetrosis | ||
| Adult Camurati-Engelmann Syndrome Child Females Homo sapiens Male Middle Aged Osteopetrosis Rare Diseases X-Ray Computed Tomography | ||
| 6 (35.3%) |
6645747 |
[Neuro-otologic early symptoms of Camurati-Engelmann disease]. Lenarz T, Gulzow J. Laryngol Rhinol Otol (Stuttg). 1983;62(10):463-7. |
| Myopathy Facial palsy | ||
| Adult Audiometry, Pure-Tone Audiometry, Speech Auditory Evoked Potentials Bone Conduction Bone Diseases, Developmental Camurati-Engelmann Syndrome Females Homo sapiens Meniere Disease | ||
| 6 (35.3%) |
2823332 |
[Value of various radiological study results in the follow-up of Camurati-Engelmann disease]. Wilhelm KR, Lenarz T, Weise D, Baldauf G, Fritz P, Bihl H. Rofo. 1987;147(3):278-82. |
| Facial paralysis | ||
| Adult Bone Diseases, Developmental Camurati-Engelmann Syndrome Cranial Nerves Differential Diagnosis Females Homo sapiens Osteochondrodysplasias | ||
| 6 (35.3%) |
2548243 |
[Observations on the Camurati-Engelmann syndrome. Demonstration of changes of the petrous bone using high-resolution computed tomography]. Dannenmaier B, Weber B. Rofo. 1989;151(2):175-8. |
| Facial paralysis | ||
| Adult Camurati-Engelmann Syndrome Differential Diagnosis Females Homo sapiens Osteochondrodysplasias X-Ray Computed Tomography | ||
| 9 (34.8%) |
29620655 (5902284) |
Clinical characteristics and treatment outcomes in Camurati-Engelmann disease: A case series. Kim YM, Kang E, Choi JH, Kim GH, Yoo HW, Lee BH. Medicine (Baltimore). 2018;97(14):e0309. |
| Retinal detachment Scoliosis Genu valgum | ||
| TGFB1 | ||
| p|SUB|E|169|K;RS#:281865484 p|SUB|R|218|C;RS#:104894721 p|SUB|R|218|H;RS#:104894720 | ||
| Adrenal Cortex Hormones Camurati-Engelmann Syndrome Child Child, Preschool Females Homo sapiens Male Musculoskeletal Pain Mutation Retrospective Studies South Korea | ||
| 10 (32.7%) |
29952779 |
Total Hip Arthroplasty in a Patient with Camurati-Engelmann Disease: A Case Report. Ge DH, Yu S, Ziegler JD, Schwarzkopf R. JBJS Case Connect. 2018;8(2):e45. |
| Diaphyseal sclerosis | ||
| Adult Camurati-Engelmann Syndrome Homo sapiens Male Pelvic Bones |
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 |