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6 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
2 associated genes
28 signs/symptoms
Semantic dementia
Maffucci syndrome

C9ORF72 IDH1
CHMP2B IDH2
GRN
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

Maffucci syndrome
IDH1 IDH2



Semantic dementia
Maffucci syndrome

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

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare bone disease
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare oncologic disease
- Rare skin 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: unknown
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 -
No MeSH references

Maffucci syndrome

Very frequent
- Bone tumefaction / swelling
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Enchondroses
- Lower limb asymmetry / hemiatrophy / hemihypertrophy
- Mutiple fractures / bone fragility
- Osteolysis / osteoclasia / bone destruction / erosions
- Vascular anomalies of skin / mucosae
- Venous thrombosis / phlebitis / thrombophlebitis

Frequent
- Bone pain
- Exostoses
- Joint / articular deformation
- Scoliosis
- Short stature / dwarfism / nanism
- Subcutaneous nodules / lipomas / tumefaction / swelling

Occasional
- Acute palsy
- Adrenal neoplasm / tumor / carcinoma / cancer
- Bone / osseous neoplasm / tumor / carcinoma / cancer
- Breast neoplasm / tumor / carcinoma / cancer
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Cranial nerves palsy
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Goiter
- Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Parathyroid neoplasm / tumor / carcinoma / cancer
- Pituitary / hypophyseal neoplasm / tumor / carcinoma / cancer
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Sarcoma


Semantic dementia

(no data available)