Cytoscape Web
Click node...


6 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
25 signs/symptoms
Semantic dementia
Congenital muscular dystrophy due to LMNA mutation

C9ORF72 LMNA
CHMP2B
GRN
MAPT
PSEN1
VCP


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Semantic dementia
C9ORF72 CHMP2B GRN MAPT PSEN1 VCP

Congenital muscular dystrophy due to LMNA mutation
LMNA



Semantic dementia
Congenital muscular dystrophy due to LMNA mutation

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

Synonym(s):
- L-CMD
- LMNA-related congenital muscular dystrophy

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the nervous system -

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: sporadic

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

Congenital muscular dystrophy due to LMNA mutation

Very frequent
- Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase
- Anomalies of the neck
- Muscle weakness / flaccidity

Frequent
- Abnormal EMG / electromyogram / electropmyography
- Abnormal gait
- Contractures / cramps / trismus / tetania / claudication / opisthotonos
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Lordosis
- Motor deficit / trouble
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Myopathy
- Psychic / psychomotor regression / dementia / intellectual decline
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Restricted joint mobility / joint stiffness / ankylosis
- Rigid spine

Occasional
- Ankle anomalies
- Cardiac rhythm disorder / arrhythmia
- Death in infancy
- Fetal immobility / abnormal fetal movements
- Heart / cardiac failure
- Hyperextensible joints / articular hyperlaxity
- Narrow rib cage / thorax
- Wasted (excluding lipodystrophy) / poorly muscled build / cachexy


Semantic dementia

(no data available)