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PROTEIN INTERACTIONS: 4
1 OMIM reference -
9 associated genes
28 signs/symptoms
Mitochondrial nonsyndromic sensorineural deafness with susceptibility to aminoglycoside exposure
Omenn syndrome

MT-CO1 ADA
MT-ND4 CHD7
MT-RNR1 DCLRE1C
MT-TS1 IL2RG
TRMU IL7R
LIG4
RAG1
RAG2
RMRP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
MT-CO1
MT-ND4
MT-RNR1
MT-TS1
(0.63)
(0.63)
(0.63)
(0.63)
LIG4
LIG4
LIG4
LIG4



Citations in the biomedical literature:


Mitochondrial nonsyndromic sensorineural deafness with susceptibility to aminoglycoside exposure
MT-CO1 MT-ND4 MT-RNR1 MT-TS1 TRMU
Omenn syndrome
ADA CHD7 DCLRE1C IL2RG IL7R LIG4
RAG1 RAG2 RMRP



Mitochondrial nonsyndromic sensorineural deafness with susceptibility to aminoglycoside exposure
Omenn syndrome

Synonym(s):
- Mitochondrial isolated neurosensory deafness with susceptibility to aminoglycoside exposure
- Mitochondrial isolated neurosensory hearing loss with susceptibility to aminoglycoside exposure
- Mitochondrial isolated sensorineural deafness with susceptibility to aminoglycoside exposure
- Mitochondrial isolated sensorineural hearing loss with susceptibility to aminoglycoside exposure
- Mitochondrial nonsyndromic neurosensory deafness with susceptibility to aminoglycoside exposure
- Mitochondrial nonsyndromic neurosensory hearing loss with susceptibility to aminoglycoside exposure
- Mitochondrial nonsyndromic sensorineural hearing loss with susceptibility to aminoglycoside exposure

Synonym(s):
- Combined immunodeficiency with hypereosinophilia

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare otorhinolaryngologic 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: variable
Average age of death: -
Type of inheritance: mitochondrial inheritance
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 nonsyndromic sensorineural deafness with susceptibility to aminoglycoside exposure

(no data available)