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4 OMIM references -
4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Severe intellectual deficit and progressive spastic paraplegia
Burkitt lymphoma

AP4B1 MYC
AP4E1
AP4M1
AP4S1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
AP4B1
(0.63)
MYC



Citations in the biomedical literature:


Severe intellectual deficit and progressive spastic paraplegia
AP4B1 AP4E1 AP4M1 AP4S1
Burkitt lymphoma
MYC



Severe intellectual deficit and progressive spastic paraplegia
Burkitt lymphoma

Synonym(s):
- AP4 deficiency syndrome

Synonym(s):
- Small non-cleaved cell lymphoma

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare hematologic disease
- Rare oncologic disease

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

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: any age
Type of inheritance: sporadic

External references:
4 OMIM references -
No MeSH references
External references:
1 OMIM reference -
2 MeSH references: D002051 / D008228

No signs/symptoms info available.