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6 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
4 associated genes
18 signs/symptoms
Semantic dementia
2p21 microdeletion syndrome

C9ORF72 CAMKMT
CHMP2B PPM1B
GRN PREPL
MAPT SLC3A1
PSEN1
VCP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
VCP
(0.86)
PPM1B



Citations in the biomedical literature:


Semantic dementia
C9ORF72 CHMP2B GRN MAPT PSEN1 VCP

2p21 microdeletion syndrome
CAMKMT PPM1B PREPL SLC3A1



Semantic dementia
2p21 microdeletion syndrome

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

Synonym(s):
- 2p21 deletion
- Del(2)(p21)
- Monosomy 2p21

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare renal 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: -
Type of inheritance: autosomal recessive

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

2p21 microdeletion syndrome

Very frequent
- Aminoacid metabolism anomalies / aminoaciduria
- Autosomal recessive inheritance
- Depressed nasal bridge
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Frontal bossing / prominent forehead
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Late puberty / hypogonadism / hypogenitalism
- Long / thick / curved lashes / trichomegaly / polytrichia
- Low set ears / posteriorly rotated ears
- Respiratory chain / mitochondrial anomalies
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Urinary / renal lithiasis / kidney stones / nephritic colic

Frequent
- Hypocalcemia
- Organic acid metabolism anomalies
- Seizures / epilepsy / absences / spasms / status epilepticus

Occasional
- Fetal immobility / abnormal fetal movements
- Hypoglycemia


Semantic dementia

(no data available)