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Enchondromatosis
1 OMIM reference -
3 associated genes
21 signs/symptoms
COMMON GENES: 2
COMMON SIGNS: 8
Maffucci syndrome
1 OMIM reference -
2 associated genes
28 signs/symptoms
Enchondromatosis
Maffucci syndrome

IDH1
(UniProt - OMIM)
 IDH1
(UniProt - OMIM)
IDH2
(UniProt - OMIM)
 IDH2
(UniProt - OMIM)
PTH1R
(UniProt - OMIM)

COMMON
GENES 		IDH1
IDH2


Citations in the biomedical literature:


Enchondromatosis
IDH1 IDH2 PTH1R
Maffucci syndrome



Enchondromatosis
Maffucci syndrome

Synonym(s):
- Ollier disease
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare bone disease
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare oncologic disease
- Rare skin disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: childhood
Average age of death: -
Type of inheritance: sporadic
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: sporadic
External references:
1 OMIM reference -
1 MeSH reference: D004687
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Bone pain
- Bone tumefaction / swelling
- Bone / osseous neoplasm / tumor / carcinoma / cancer
- Osteolysis / osteoclasia / bone destruction / erosions
- Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Sarcoma
- Subcutaneous nodules / lipomas / tumefaction / swelling
- Venous thrombosis / phlebitis / thrombophlebitis

Enchondromatosis
Maffucci syndrome

Very frequent
- Anomalies of cartilages, joints and periarticular tissue
- Cavernous / tuberous hemangioma
- Metaphyseal anomaly
- Short limbs / micromelia / brachymelia
- Visceral angiomatosis (excluding skin)

Frequent
- Restricted joint mobility / joint stiffness / ankylosis

Occasional
- Anaemia
- Chronic skin infection / ulcerations / ulcers / cancrum
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- Lymphangioma / lymphatic malformations
- Neoplasms / tumors
- Platyspondyly
- Precocious puberty


Very frequent
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Enchondroses
- Lower limb asymmetry / hemiatrophy / hemihypertrophy
- Mutiple fractures / bone fragility
- Vascular anomalies of skin / mucosae

Frequent
- Exostoses
- Joint / articular deformation
- Scoliosis
- Short stature / dwarfism / nanism

Occasional
- Acute palsy
- Adrenal neoplasm / tumor / carcinoma / cancer
- Breast neoplasm / tumor / carcinoma / cancer
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Cranial nerves palsy
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Goiter
- Parathyroid neoplasm / tumor / carcinoma / cancer
- Pituitary / hypophyseal neoplasm / tumor / carcinoma / cancer
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction