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1 OMIM reference -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
2 associated genes
No signs/symptoms info
Acute necrotizing encephalopathy of childhood
Saldino-Mainzer syndrome

CPT2 IFT140
RANBP2 IFT172


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
RANBP2
(0.63)
IFT140



Citations in the biomedical literature:


Acute necrotizing encephalopathy of childhood
CPT2 RANBP2
Saldino-Mainzer syndrome
IFT140 IFT172



Acute necrotizing encephalopathy of childhood
Saldino-Mainzer syndrome

Synonym(s):
- ANEC
- Isolated ANE
- Isolated acute necrotizing encephalopathy

Synonym(s):
- Conorenal syndrome
- Renal dysplasia - retinal pigmentary dystrophy - cerebellar ataxia - skeletal dysplasia

Classification (Orphanet):
- Rare infectious disease
- Rare neurologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare renal disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

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

External references:
1 OMIM reference -
No MeSH references
External references:
2 OMIM references -
1 MeSH reference: C535463

No signs/symptoms info available.