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

COL7A1 CBFB
FLT3
KIT
MYH11


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


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



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

Synonym(s):
- DEB, acral
- DEB-ac

Synonym(s):
(no synonyms)

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
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 dominant
Epidemiological data:
(no data available)

External references:
No OMIM references
No MeSH references
External references:
No OMIM references
No MeSH references

Acral dystrophic epidermolysis bullosa

Very frequent
- Autosomal dominant inheritance
- Autosomal recessive inheritance
- Follicular / erythematous / edematous papules / milium
- Nails anomalies
- Skin hypoplasia / aplasia / atrophy
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment



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

(no data available)