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

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

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


Citations in the biomedical literature:


Craniopharyngioma
BRAF CTNNB1
Enchondromatosis
IDH1 IDH2 PTH1R



Craniopharyngioma
Enchondromatosis

Synonym(s):
(no synonyms)

Synonym(s):
- Ollier disease
Classification (Orphanet):
- Rare endocrine disease
- Rare neurologic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare oncologic disease
Classification (ICD10):
- Neoplasms -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: variable
Average age of death: -
Type of inheritance: sporadic
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: childhood
Average age of death: -
Type of inheritance: sporadic
External references:
No OMIM references
1 MeSH reference: D003397
External references:
1 OMIM reference -
1 MeSH reference: D004687
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


Craniopharyngioma

(no data available)