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PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
9 signs/symptoms
Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
Pretibial dystrophic epidermolysis bullosa

CBFB COL7A1
FLT3
KIT
MYH11


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CBFB
(0.49)
COL7A1



Citations in the biomedical literature:


Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
CBFB FLT3 KIT MYH11
Pretibial dystrophic epidermolysis bullosa
COL7A1



Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
Pretibial dystrophic epidermolysis bullosa

Synonym(s):
(no synonyms)

Synonym(s):
- DEB-Pt
- Pretibial DEB

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

Classification (ICD10):
- Neoplasms -
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: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

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

Pretibial dystrophic epidermolysis bullosa

Very frequent
- Abnormal fingernails
- Abnormal toenails
- Autosomal dominant inheritance
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Frequent
- Abnormal scarring / cheloids / hypertrophic scars
- Follicular / erythematous / edematous papules / milium
- Pruritus / itching

Occasional
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Lichen


Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)

(no data available)