Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
9 associated genes
28 signs/symptoms
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
Omenn syndrome

DGUOK ADA
CHD7
DCLRE1C
IL2RG
IL7R
LIG4
RAG1
RAG2
RMRP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
DGUOK
(0.63)
LIG4



Citations in the biomedical literature:


Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
DGUOK
Omenn syndrome
ADA CHD7 DCLRE1C IL2RG IL7R LIG4
RAG1 RAG2 RMRP



Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
Omenn syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- Combined immunodeficiency with hypereosinophilia

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive
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


Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency

(no data available)