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1 OMIM reference -
3 associated genes
38 connected diseases
21 signs/symptoms
Disease Type of connection
Maffucci syndrome
Chondrodysplasia, Blomstrand type
D-2-hydroxyglutaric aciduria
Dental ankylosis
Eiken syndrome
Giant cell glioblastoma
Metaphyseal chondrodysplasia, Jansen type
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
Estrogen resistance syndrome
Brachydactyly type E
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Familial isolated hypoparathyroidism due to impaired PTH secretion
Autosomal dominant nonsyndromic intellectual deficit
Desmoid tumor
Hepatocellular carcinoma, childhood-onset
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
Catecholaminergic polymorphic ventricular tachycardia
Hemolytic anemia due to adenylate kinase deficiency
Infantile Refsum disease
Neonatal adrenoleukodystrophy
Reticular dysgenesis
Zellweger syndrome
- Ollier disease

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare oncologic disease

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
External references:
1 OMIM reference -
1 MeSH reference: D004687

Gene symbol UniProt reference OMIM reference
IDH1 O75874147700
IDH2 P48735147650
PTH1R Q03431168468
Very frequent
- Anomalies of cartilages, joints and periarticular tissue
- Bone tumefaction / swelling
- Cavernous / tuberous hemangioma
- Metaphyseal anomaly
- Osteolysis / osteoclasia / bone destruction / erosions
- Short limbs / micromelia / brachymelia
- Visceral angiomatosis (excluding skin)

- Bone pain
- Restricted joint mobility / joint stiffness / ankylosis
- Subcutaneous nodules / lipomas / tumefaction / swelling

- Anaemia
- Bone / osseous neoplasm / tumor / carcinoma / cancer
- Chronic skin infection / ulcerations / ulcers / cancrum
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- Lymphangioma / lymphatic malformations
- Neoplasms / tumors
- Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Platyspondyly
- Precocious puberty
- Sarcoma
- Venous thrombosis / phlebitis / thrombophlebitis