ODCs

Cytoscape Web

Click node...

Enchondromatosis

1 OMIM reference -
3 associated genes
21 signs/symptoms

COMMON GENES: 1

D-2-hydroxyglutaric aciduria

2 OMIM references -
2 associated genes
No signs/symptoms info

Enchondromatosis

D-2-hydroxyglutaric aciduria

IDH1	(UniProt - OMIM)		D2HGDH	(UniProt - OMIM)
IDH2	(UniProt - OMIM)		IDH2	(UniProt - OMIM)
PTH1R	(UniProt - OMIM)


COMMON GENES	IDH2

Citations in the biomedical literature:

Enchondromatosis		D-2-hydroxyglutaric aciduria
	Synonym(s): - Ollier disease		Synonym(s): - D-2-HGA - D-2-hydroxyglutaric acidemia

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare oncologic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	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: <1 / 1 000 000 Average age onset: variable Average age of death: any age Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: D004687		External references: 2 OMIM references - No MeSH references

Enchondromatosis
	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) Frequent - Bone pain - Restricted joint mobility / joint stiffness / ankylosis - Subcutaneous nodules / lipomas / tumefaction / swelling Occasional - 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
D-2-hydroxyglutaric aciduria
(no data available)