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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Estrogen resistance syndrome
Carnitine-acylcarnitine translocase deficiency

ESR1 SLC25A20


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ESR1
(0.63)
SLC25A20



Citations in the biomedical literature:


Estrogen resistance syndrome
ESR1
Carnitine-acylcarnitine translocase deficiency
SLC25A20



Estrogen resistance syndrome
Carnitine-acylcarnitine translocase deficiency

Synonym(s):
(no synonyms)

Synonym(s):
- CACT deficiency

Classification (Orphanet):
(no data available)
Classification (Orphanet):
- Inborn errors of metabolism
- Rare cardiac disease
- Rare genetic disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

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

No signs/symptoms info available.