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Maffucci syndrome
1 OMIM reference -
2 associated genes
25 connected diseases
28 signs/symptoms
Disease Type of connection
Enchondromatosis
D-2-hydroxyglutaric aciduria
Giant cell glioblastoma
Gliosarcoma
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
Estrogen resistance syndrome
Adult-onset distal myopathy due to VCP mutation
Amyotrophic lateral sclerosis
Behavioral variant of frontotemporal dementia
Dedifferentiated liposarcoma
Glycogen storage disease due to liver glycogen phosphorylase deficiency
Idiopathic aplastic anemia
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Progressive non-fluent aphasia
Semantic dementia
Shwachman-Diamond syndrome
Spastic paraplegia - Paget disease of bone
Succinyl-CoA:3-ketoacid CoA transferase deficiency
Transaldolase deficiency
Well-differentiated liposarcoma
Hemolytic anemia due to adenylate kinase deficiency
Infantile Refsum disease
Neonatal adrenoleukodystrophy
Reticular dysgenesis
Zellweger syndrome
Synonym(s):
(no synonyms)
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 -
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: sporadic
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
IDH1 O75874147700
IDH2 P48735147650
Very frequent
- Bone tumefaction / swelling
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Enchondroses
- Lower limb asymmetry / hemiatrophy / hemihypertrophy
- Mutiple fractures / bone fragility
- Osteolysis / osteoclasia / bone destruction / erosions
- Vascular anomalies of skin / mucosae
- Venous thrombosis / phlebitis / thrombophlebitis

Frequent
- Bone pain
- Exostoses
- Joint / articular deformation
- Scoliosis
- Short stature / dwarfism / nanism
- Subcutaneous nodules / lipomas / tumefaction / swelling

Occasional
- Acute palsy
- Adrenal neoplasm / tumor / carcinoma / cancer
- Bone / osseous 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
- Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Parathyroid neoplasm / tumor / carcinoma / cancer
- Pituitary / hypophyseal neoplasm / tumor / carcinoma / cancer
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Sarcoma