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Congenital fiber-type disproportion myopathy
2 OMIM references -
7 associated genes
8 signs/symptoms
PROTEIN INTERACTIONS: 1
Fibronectin glomerulopathy
2 OMIM references -
1 associated gene
10 signs/symptoms
Congenital fiber-type disproportion myopathy
Fibronectin glomerulopathy

ACTA1
(UniProt - OMIM)
 FN1
(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)
TPM3
(0.72)
FN1


Citations in the biomedical literature:


Congenital fiber-type disproportion myopathy
ACTA1 ITGA7 MYL2 PTPLA SEPN1 TPM2
TPM3
Fibronectin glomerulopathy
FN1



Congenital fiber-type disproportion myopathy
Fibronectin glomerulopathy

Synonym(s):
- CFTDM
Synonym(s):
- GFND
- Glomerulopathy with fibronectin deposits
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare renal disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the genitourinary system -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant
External references:
2 OMIM references -
No MeSH references
External references:
2 OMIM references -
No MeSH references
Congenital fiber-type disproportion myopathy
Fibronectin glomerulopathy

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



Very frequent
- Autosomal dominant inheritance
- Chronic arterial hypertension
- Edema of the legs / lower limbs
- Functional anomalies of the kidney and the urinary tract
- Hematuria / microhematuria
- Nephrotic syndrome
- Proteinuria
- Renal failure
- Renal glomerular defect / glomerulopathy

Occasional
- Intracranial / cerebral / meningeal hemorrhage