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6 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
19 signs/symptoms
Semantic dementia
Partial acquired lipodystrophy

C9ORF72 LMNB2
CHMP2B
GRN
MAPT
PSEN1
VCP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
VCP
(0.63)
LMNB2



Citations in the biomedical literature:


Semantic dementia
C9ORF72 CHMP2B GRN MAPT PSEN1 VCP

Partial acquired lipodystrophy
LMNB2



Semantic dementia
Partial acquired lipodystrophy

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

Synonym(s):
- Barraquer-Simons syndrome
- Progressive cephalothoracic lipodystrophy

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare skin disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

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

Partial acquired lipodystrophy

Very frequent
- Abnormal fat distribution / lipodystrophy
- Lipoatrophy

Frequent
- Anomalies of complement
- Autoimmunity / autoimmune reaction / autoantibodies
- Hearing loss / hypoacusia / deafness
- Hematuria / microhematuria
- Hyperlymphocytosis
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Myopathy
- Premature ageing
- Proteinuria
- Renal glomerular defect / glomerulopathy
- Seizures / epilepsy / absences / spasms / status epilepticus

Occasional
- Anomalies of skin, subcutaneous tissue and mucosae
- Articular / joint pain / arthralgia
- Hirsutism / hypertrichosis / Increased body hair
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Insulin resistance
- Liver / hepatic steatosis


Semantic dementia

(no data available)