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6 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 2
1 OMIM reference -
1 associated gene
27 signs/symptoms
Semantic dementia
Autosomal dominant Larsen syndrome

C9ORF72 FLNB
CHMP2B
GRN
MAPT
PSEN1
VCP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PSEN1
VCP
(0.79)
(0.49)
FLNB
FLNB



Citations in the biomedical literature:


Semantic dementia
C9ORF72 CHMP2B GRN MAPT PSEN1 VCP

Autosomal dominant Larsen syndrome
FLNB



Semantic dementia
Autosomal dominant Larsen 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 developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare otorhinolaryngologic 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 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant

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

Autosomal dominant Larsen syndrome

Very frequent
- Absent / small fingernails / anonychia of hands
- Autosomal dominant inheritance
- Autosomal recessive inheritance
- Broad / bifid thumb
- Depressed nasal bridge
- Depressed premaxillary region / midface
- Flat face
- Frontal bossing / prominent forehead
- Hyperextensible joints / articular hyperlaxity
- Hypertelorism
- Joint dislocation / subluxation
- Long hand / arachnodactyly
- Short hand / brachydactyly

Frequent
- Wrist / carpal anomalies

Occasional
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Conductive deafness / hearing loss
- Craniostenosis / craniosynostosis / sutural synostosis
- Epiphyseal anomaly
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Laryngomalacia
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Scoliosis
- Short stature / dwarfism / nanism
- Structural anomalies of the cardio-circulatory system
- Syndactyly of fingers / interdigital palm
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Vertebral segmentation anomaly / hemivertebrae


Semantic dementia

(no data available)