Cytoscape Web
Click node...

Enchondromatosis
1 OMIM reference -
3 associated genes
21 signs/symptoms
PROTEIN INTERACTIONS: 1
Pilomatrixoma
1 OMIM reference -
1 associated gene
No signs/symptoms info
Enchondromatosis
Pilomatrixoma

IDH1
(UniProt - OMIM)
 CTNNB1
(UniProt - OMIM)
IDH2
(UniProt - OMIM)
PTH1R
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
PTH1R
(0.65)
CTNNB1


Citations in the biomedical literature:


Enchondromatosis
IDH1 IDH2 PTH1R
Pilomatrixoma
CTNNB1



Enchondromatosis
Pilomatrixoma

Synonym(s):
- Ollier disease
Synonym(s):
- Epithelioma calcificans of Malherbe
- Pilomatricoma
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare oncologic disease
- Rare skin disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Neoplasms -
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: childhood
Average age of death: -
Type of inheritance: sporadic
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
1 MeSH reference: D004687
External references:
1 OMIM reference -
1 MeSH reference: D018296
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


Pilomatrixoma

(no data available)