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1 OMIM reference -
5 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
7 signs/symptoms
Extraskeletal myxoid chondrosarcoma
Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis

EWSR1 PTF1A
NR4A3
TAF15
TCF12
TFG


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TCF12
(0.62)
PTF1A



Citations in the biomedical literature:


Extraskeletal myxoid chondrosarcoma
EWSR1 NR4A3 TAF15 TCF12 TFG
Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis
PTF1A



Extraskeletal myxoid chondrosarcoma
Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis

Synonym(s):
(no synonyms)

Synonym(s):
- Pancreatic and cerebellar agenesis

Classification (Orphanet):
- Rare oncologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
(no data available)
Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: adulthood
Average age of death: adult
Type of inheritance: sporadic
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

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

Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis

Very frequent
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Insulin-independent / type 2 diabetes
- Low set ears / posteriorly rotated ears
- Micrognathia / retrognathia / micrognathism / retrognathism
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Triangular face

Frequent
- Structural anomalies of the pancreas



Extraskeletal myxoid chondrosarcoma

(no data available)