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PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
10 signs/symptoms
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Oxoglutaricaciduria

ISG15 OGDH


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ISG15
(0.63)
OGDH



Citations in the biomedical literature:


Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ISG15
Oxoglutaricaciduria
OGDH



Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Oxoglutaricaciduria

Synonym(s):
- MSMD due to complete ISG15 deficiency

Synonym(s):
- Alpha-ketoglutarate dehydrogenase deficiency

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

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive

External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C536582

Oxoglutaricaciduria

Very frequent
- Ataxia / incoordination / trouble of the equilibrium
- Autosomal recessive inheritance
- Hypertonia / spasticity / rigidity / stiffness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Organic acid metabolism anomalies
- Short stature / dwarfism / nanism

Frequent
- Anomaly / ectopia / hypoplasia / atresia of salivary glands / salivary duct
- Hydrocephaly
- Movement disorder



Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

(no data available)