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Metachondromatosis
1 OMIM reference -
1 associated gene
10 signs/symptoms
PROTEIN INTERACTIONS: 1
Pilocytic astrocytoma
7 associated genes
No signs/symptoms info
Metachondromatosis
Pilocytic astrocytoma

PTPN11
(UniProt - OMIM)
 BRAF
(UniProt - OMIM)
FGFR1
(UniProt - OMIM)
KIAA1549
(UniProt - OMIM)
KRAS
(UniProt - OMIM)
NTRK2
(UniProt - OMIM)
RAF1
(UniProt - OMIM)
SRGAP3
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
PTPN11
(0.52)
NTRK2


Citations in the biomedical literature:


Metachondromatosis
PTPN11
Pilocytic astrocytoma
BRAF FGFR1 KIAA1549 KRAS NTRK2 RAF1
SRGAP3



Metachondromatosis
Pilocytic astrocytoma

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
(no data available)
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: -
Average age onset: variable
Average age of death: -
Type of inheritance: sporadic
External references:
1 OMIM reference -
No MeSH references
External references:
No OMIM references
No MeSH references
Metachondromatosis

Very frequent
- Autosomal dominant inheritance
- Bone pain
- Cranial nerves palsy
- Enchondroses
- Epiphyseal anomaly
- Exostoses
- Metaphyseal anomaly
- Osteonecrosis / bone infarction
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Periarticular tissue anomaly / extraarticular calcifications



Pilocytic astrocytoma

(no data available)