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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
39 OMIM references -
38 associated genes
13 signs/symptoms
Autosomal dominant limb-girdle muscular dystrophy type 1B
Familial isolated dilated cardiomyopathy

LMNA ABCC9
ACTC1
ACTN2
BAG3
CRYAB
CSRP3
DES
DMD
DOLK
DSG2
FHL2
FKTN
GATAD1
LAMA4
LDB3
MYBPC3
MYH6
MYH7
MYPN
NEXN
PLN
PRDM16
PSEN1
PSEN2
RBM20
SCN5A
SDHA
SGCD
TAZ
TCAP
TMPO
TNNC1
TNNI3
TNNT2
TPM1
TTN
TXNRD2
VCL


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
LMNA
(0.88)
TMPO



Citations in the biomedical literature:


Autosomal dominant limb-girdle muscular dystrophy type 1B
LMNA
Familial isolated dilated cardiomyopathy
ABCC9 ACTC1 ACTN2 BAG3 CRYAB CSRP3
DES DMD DOLK DSG2 FHL2 FKTN
GATAD1 LAMA4 LDB3 MYBPC3 MYH6 MYH7
MYPN NEXN PLN PRDM16 PSEN1 PSEN2
RBM20 SCN5A SDHA SGCD TAZ TCAP
TMPO TNNC1 TNNI3 TNNT2 TPM1 TTN
TXNRD2 VCL



Autosomal dominant limb-girdle muscular dystrophy type 1B
Familial isolated dilated cardiomyopathy

Synonym(s):
- LGMD1B
- Limb-girdle muscular dystrophy due to lamin A/C deficiency

Synonym(s):
- Familial or idiopathic dilated cardiomyopathy

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

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

Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: variable
Average age of death: any age
Type of inheritance: autosomal dominant

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

Familial isolated dilated cardiomyopathy

Very frequent
- Autosomal dominant inheritance
- Cardiomyopathy / hypertrophic / dilated

Occasional
- Abnormal EMG / electromyogram / electropmyography
- Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase
- Autosomal recessive inheritance
- Lipoatrophy
- Myopathy
- Palmoplantar hyperkeratosis / keratoderma
- Polynuclear cells / neutrophils anomalies / neutropenia
- Sensorineural deafness / hearing loss
- Stillbirth / neonatal death
- X-linked dominant inheritance
- X-linked recessive inheritance


Autosomal dominant limb-girdle muscular dystrophy type 1B

(no data available)