Ollier disease

Enchondromatosis is a rare primary bone dysplasia disorder characterized by the development of multiple mainly unilateral or asymmetrically distributed enchondromas throughout the metaphyses of the long bones.



Input patient's signs and symptoms


Narrow down the case reports



Total: 44 (papers)

  


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
1
(59.8%)
19017386
(2600790)
Acroform type of enchondromatosis associated with severe vertebral involvement and facial dysmorphism in a boy with a new variant of enchondromatosis type I1 of Spranger: case report and a review of the literature.
Kaissi AA, Roetzer K, Klaushofer K, Grill F.
Cases J. 2008;1(1):324.
Macrocephaly Rhizomelia
2
(33.1%)
9084553
Acquired tracheomalacia--a case report.
Kang FC, Tsai YC, Jiang CY, Chen HP, Chang CL.
Acta Anaesthesiol Sin. 1996;34(4):239-42.
Hemihypertrophy Scoliosis Macrodactyly
C2
Homo sapiens Male Tracheal Diseases
3
(23.3%)
24436859
(3854679)
Treatment of combined spinal deformity in patient with ollier disease and abnormal vertebrae.
Ryabykh SО, Gubin AV, Prudnikova CO, Kobyzev CA.
Global Spine J. 2013;3(2):109-14.
Scoliosis
4
(21.2%)
30872199
Skull Base Chondrosarcoma Caused by Ollier Disease: A Case Report and Literature Review.
Ding C, Chen W, Liu F, Xiong M, Chen J.
World Neurosurg. 2019;127:103-108.
Ptosis Multiple enchondromatosis
Adult Chondrosarcoma Enchondromatosis Females Homo sapiens Skull Base Neoplasms
4
(21.2%)
28420520
The association of enchondromatosis with malignant transformed chondrosarcoma and ovarian juvenile granulosa cell tumor (Ollier disease).
Burgetova A, Matejovsky Z, Zikan M, Slama J, Dundr P, Skapa P, Benkova K, Cibula D, Fischerova D.
Taiwan J Obstet Gynecol. 2017;56(2):253-257.
Enchondroma
Abdominal Neoplasms Chondrosarcoma Enchondromatosis Females Homo sapiens Ultrasonography X-Ray Computed Tomography Young Adult
4
(21.2%)
28144098
(5234168)
Juvenile granulosa cell tumor associated with Ollier disease.
Sampagar AA, Jahagirdar RR, Bafna VS, Bartakke SP.
Indian J Med Paediatr Oncol. 2016;37(4):293-295.
Multiple enchondromatosis
4
(21.2%)
27293399
(4899633)
Fibrous Dysplasia with Massive Cartilaginous Differentiation (Fibrocartilaginous Dysplasia) in the Proximal Femur: A Case Report and Review of the Literature.
Morioka H, Kamata Y, Nishimoto K, Susa M, Kikuta K, Horiuchi K, Sasaki A, Kameyama K, Nakamura M, Matsumoto M.
Case Rep Oncol. 2016;9(1):126-33.
Multiple enchondromatosis
4
(21.2%)
26372762
Nonoperative Management of Multiple Hand Enchondromas in Ollier Disease With Progressive Ossification.
MacGillis K, King D.
Am J Orthop (Belle Mead NJ). 2015;44(9):E343-6.
Multiple enchondromatosis
Bone and Bones Child Disease Progression Enchondromatosis Females Hand Homo sapiens Young Adult
4
(21.2%)
25756487
Digitial endochondroma.
Wilson CA, El-Khayat RH, Somerville J, McKenna K.
Dermatol Online J. 2014;21(2):.
Onycholysis Enchondroma
Adult Enchondromatosis Fingers Homo sapiens Male Onycholysis
4
(21.2%)
24890303
Enchondroma of the nasal septum due to Ollier disease: a case report and review of the literature.
Jacobi CM, Hiranya ES, Gay A, Holzmann D, Kollias S, Soyka MB.
Head Neck. 2015;37(3):E30-3.
Enchondroma
Chondroma Enchondromatosis Females Femur Follow-Up Studies Health Risk Assessment Homo sapiens Immunohistochemistry Middle Aged Neoplastic Cell Transformation Nose Neoplasms
        

Phenotype(s) retrieved from Orphanet

    Total: 20

HPO ID Term Frequency
HP:0000944 Abnormality of the metaphysis Very frequent (99-80%)
HP:0001028 Hemangioma Very frequent (99-80%)
HP:0002763 Abnormal cartilage morphology Very frequent (99-80%)
HP:0002797 Osteolysis Very frequent (99-80%)
HP:0002983 Micromelia Very frequent (99-80%)
HP:0005701 Multiple enchondromatosis Very frequent (99-80%)
HP:0100761 Visceral angiomatosis Very frequent (99-80%)
HP:0001387 Joint stiffness Frequent (79-30%)
HP:0001482 Subcutaneous nodule Frequent (79-30%)
HP:0002653 Bone pain Frequent (79-30%)
HP:0000826 Precocious puberty Occasional (29-5%)
HP:0000926 Platyspondyly Occasional (29-5%)
HP:0001903 Anemia Occasional (29-5%)
HP:0001928 Abnormality of coagulation Occasional (29-5%)
HP:0002664 Neoplasm Occasional (29-5%)
HP:0004936 Venous thrombosis Occasional (29-5%)
HP:0006765 Chondrosarcoma Occasional (29-5%)
HP:0100242 Sarcoma Occasional (29-5%)
HP:0100764 Lymphangioma Occasional (29-5%)
HP:0200042 Skin ulcer Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 21

HPO ID Term # of case reports
HP:0001028 Hemangioma 9
HP:0005701 Multiple enchondromatosis 7
HP:0030038 Enchondroma 4
HP:0002664 Neoplasm 3
HP:0007461 Hemangiomatosis 3
HP:0000622 Blurred vision 1
HP:0000821 Hypothyroidism 1
HP:0001806 Onycholysis 1
HP:0002013 Vomiting 1
HP:0002090 Pneumonia 1
HP:0002315 Headache 1
HP:0002317 Unsteady gait 1
HP:0002575 Tracheoesophageal fistula 1
HP:0002652 Skeletal dysplasia 1
HP:0002762 Multiple exostoses 1
HP:0002897 Parathyroid adenoma 1
HP:0008404 Nail dystrophy 1
HP:0008443 Spinal deformities 1
HP:0010775 Vascular ring 1
HP:0012115 Hepatitis 1
HP:0100777 Exostoses 1


Causative gene(s) retrieved from Orphanet

    Total: 3

Gene Symbol Gene Name Entrez Gene ID
PTH1R parathyroid hormone 1 receptor 5745
IDH2 isocitrate dehydrogenase (NADP(+)) 2, mitochondrial 3418
IDH1 isocitrate dehydrogenase (NADP(+)) 1, cytosolic 3417