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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
9 associated genes
28 signs/symptoms
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Omenn syndrome

CBL ADA
CHD7
DCLRE1C
IL2RG
IL7R
LIG4
RAG1
RAG2
RMRP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CBL
(0.63)
IL7R



Citations in the biomedical literature:


Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
CBL
Omenn syndrome
ADA CHD7 DCLRE1C IL2RG IL7R LIG4
RAG1 RAG2 RMRP



Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Omenn syndrome

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

Synonym(s):
- Combined immunodeficiency with hypereosinophilia

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive

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

Omenn syndrome

Very frequent
- Alopecia
- Autosomal recessive inheritance
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hepatomegaly / liver enlargement (excluding storage disease)
- Lymphadenopathy / polyadenopathies
- Lymphocytes anomalies
- Malabsorption / chronic diarrhea / steatorrhea
- Severe combined immune deficiency syndrome / SCID

Frequent
- Absent / decreased / thin eyebrows
- Cutaneous edema
- Dry / squaly skin / exfoliation
- Eosinophils anomalies / hypereosinophilia
- Fever / chilling
- Ground-glass / reticular / alveolar / interstitial lung / pulmonary opacity
- Hyperleukocytosis / leukocytosis
- Pruritus / itching
- Splenomegaly
- Thick skin / pachydermia / orange skin

Occasional
- Anaemia
- Autoimmunity / autoimmune reaction / autoantibodies
- Dysplastic / thick / grooved fingernails
- Hypothyroidy
- Lymphoma
- Metaphyseal anomaly
- Nephrotic syndrome
- Sepsis severe / septicemia
- Thyroiditis


Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

(no data available)