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3 OMIM references -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Neurofibromatosis type 3
Congenital dyserythropoietic anemia type IV

LZTR1 KLF1
NF2
SMARCB1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
SMARCB1
(0.85)
KLF1



Citations in the biomedical literature:


Neurofibromatosis type 3
LZTR1 NF2 SMARCB1
Congenital dyserythropoietic anemia type IV
KLF1



Neurofibromatosis type 3
Congenital dyserythropoietic anemia type IV

Synonym(s):
- NF3
- Neurilemmomatosis
- Schwannomatosis

Synonym(s):
- CDA IV
- CDA due to KLF1 mutation
- CDA type 4
- CDA type IV
- CDAN4
- Congenital dyserythropoietic anemia due to KLF1 mutation
- Congenital dyserythropoietic anemia type 4

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

External references:
3 OMIM references -
1 MeSH reference: C536641
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.