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6 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 2
1 OMIM reference -
2 associated genes
15 signs/symptoms
Semantic dementia
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus

C9ORF72 AKT3
CHMP2B PIK3R2
GRN
MAPT
PSEN1
VCP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GRN
VCP
(0.63)
(0.63)
PIK3R2
PIK3R2



Citations in the biomedical literature:


Semantic dementia
C9ORF72 CHMP2B GRN MAPT PSEN1 VCP

Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
AKT3 PIK3R2



Semantic dementia
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus

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

Synonym(s):
- MPPH syndrome

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic 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 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: sporadic

External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references

Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus

Very frequent
- Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect
- Hydrocephaly
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Postaxial polydactyly (hand)

Frequent
- Cardiac septal defect
- Depressed nasal bridge
- Ectopic / horseshoe / fused kidneys
- High forehead
- Hypertelorism
- Long / large / bulbous nose
- Microstomia / little mouth
- Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly
- Seizures / epilepsy / absences / spasms / status epilepticus
- Telecanthus / canthal dystopy
- Ventricular septal defect / interventricular communication



Semantic dementia

(no data available)