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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 associated gene
6 signs/symptoms
Estrogen resistance syndrome
5q35 microduplication syndrome

ESR1 NSD1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ESR1
(0.75)
NSD1



Citations in the biomedical literature:


Estrogen resistance syndrome
ESR1
5q35 microduplication syndrome
NSD1



Estrogen resistance syndrome
5q35 microduplication syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- Dup(5)(q35)
- Trisomy 5q35

Classification (Orphanet):
(no data available)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: sporadic

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

5q35 microduplication syndrome

Very frequent
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Microcephaly
- Short stature / dwarfism / nanism

Frequent
- Delayed bone age
- Myopia
- Psychic / behavioural troubles



Estrogen resistance syndrome

(no data available)