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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
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Familial isolated dilated cardiomyopathy

CBL 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)
CBL
(0.52)
SCN5A



Citations in the biomedical literature:


Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
CBL
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



Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Familial isolated dilated cardiomyopathy

Synonym(s):
- CBL syndrome
- Noonan syndrome-like disorder with JMML

Synonym(s):
- Familial or idiopathic dilated cardiomyopathy

Classification (Orphanet):
- Rare cardiac disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare cardiac disease
- Rare genetic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the circulatory system -

Epidemiological data:
(no data available)
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


Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

(no data available)