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6 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
3 associated genes
21 signs/symptoms
Semantic dementia
Enchondromatosis

C9ORF72 IDH1
CHMP2B IDH2
GRN PTH1R
MAPT
PSEN1
VCP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
VCP
(0.63)
IDH1



Citations in the biomedical literature:


Semantic dementia
C9ORF72 CHMP2B GRN MAPT PSEN1 VCP

Enchondromatosis
IDH1 IDH2 PTH1R



Semantic dementia
Enchondromatosis

Synonym(s):
- Semantic primary progressive aphasia
- Semantic variant PPA

Synonym(s):
- Ollier disease

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

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: -
Average age onset: adulthood
Average age of death: -
Type of inheritance: multigenic/multifactorial
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
No MeSH references
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


Semantic dementia

(no data available)