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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
26 signs/symptoms
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Familial visceral myopathy

CBL ACTG2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CBL
(0.63)
ACTG2



Citations in the biomedical literature:


Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
CBL
Familial visceral myopathy
ACTG2



Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Familial visceral myopathy

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

Synonym(s):
- Familial hollow visceral myopathy
- Hereditary hollow visceral myopathy
- Megaduodenum and/or megacystis

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

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

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: no data available
Type of inheritance: autosomal dominant

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

Familial visceral myopathy

Very frequent
- Autosomal recessive inheritance
- Bladder and ureter anomalies
- Duodenal atresia / stenosis / megaduodenum
- Megaureter / hydronephrosis / pyeloureteral junction syndrome

Frequent
- Absent / hypotonic / flaccid abdominal wall muscles
- Stillbirth / neonatal death

Occasional
- Absent / small fingernails / anonychia of hands
- Anteverted nares / nostrils
- Broad forehead
- Camptodactyly of fingers
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Congenital cardiac anomaly / malformation / cardiopathy
- Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease
- High nasal bridge
- Hyperparathyroidy
- Long hand / arachnodactyly
- Low set ears / posteriorly rotated ears
- Microcephaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia
- Narrow rib cage / thorax
- Restricted joint mobility / joint stiffness / ankylosis
- Round face
- Short bowel
- Situs inversus visceralis / colon / intestine trasposition / heterotaxia
- Umbilical hernia


Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

(no data available)