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4 OMIM references -
5 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Hereditary spherocytosis
Hereditary proximal myopathy with early respiratory failure

ANK1 TTN
EPB42
SLC4A1
SPTA1
SPTB


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ANK1
(0.78)
TTN



Citations in the biomedical literature:


Hereditary spherocytosis
ANK1 EPB42 SLC4A1 SPTA1 SPTB
Hereditary proximal myopathy with early respiratory failure
TTN



Hereditary spherocytosis
Hereditary proximal myopathy with early respiratory failure

Synonym(s):
- Minkowski-Chauffard disease

Synonym(s):
- ADMERF
- Edström Myopathy
- HIBM-ERF
- Hereditary inclusion body myopathy with early respiratory failure
- Myofibrillar myopathy with early respiratory failure

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

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: variable
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

External references:
4 OMIM references -
2 MeSH references: C536356 / D013103
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.