Cytoscape Web
Click node...

Familial amyloidosis, Finnish type
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Congenital fiber-type disproportion myopathy
2 OMIM references -
7 associated genes
8 signs/symptoms
Familial amyloidosis, Finnish type
Congenital fiber-type disproportion myopathy

GSN
(UniProt - OMIM)
 ACTA1
(UniProt - OMIM)
ITGA7
(UniProt - OMIM)
MYL2
(UniProt - OMIM)
PTPLA
(UniProt - OMIM)
SEPN1
(UniProt - OMIM)
TPM2
(UniProt - OMIM)
TPM3
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
GSN
(0.96)
ACTA1


Citations in the biomedical literature:


Familial amyloidosis, Finnish type
GSN
Congenital fiber-type disproportion myopathy
ACTA1 ITGA7 MYL2 PTPLA SEPN1 TPM2
TPM3



Familial amyloidosis, Finnish type
Congenital fiber-type disproportion myopathy

Synonym(s):
- Familial amyloid polyneuropathy type 4
- Gelsolin amyloidosis
- Hereditary amyloidosis, Finnish type
Synonym(s):
- CFTDM
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
2 OMIM references -
No MeSH references
Congenital fiber-type disproportion myopathy

Very frequent
- Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase
- Areflexia / hyporeflexia
- Autosomal recessive inheritance
- Hypotonia
- Myopathy

Frequent
- Pectus excavatum
- Repeat respiratory infections
- Scoliosis



Familial amyloidosis, Finnish type

(no data available)