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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 2
3 associated genes
No signs/symptoms info
Fatal infantile hypertonic myofibrillar myopathy
Autosomal dominant methemoglobinemia

CRYAB HBA1
HBA2
HBB


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CRYAB
CRYAB
(0.56)
(0.56)
HBA1
HBA2



Citations in the biomedical literature:


Fatal infantile hypertonic myofibrillar myopathy
CRYAB
Autosomal dominant methemoglobinemia
HBA1 HBA2 HBB



Fatal infantile hypertonic myofibrillar myopathy
Autosomal dominant methemoglobinemia

Synonym(s):
(no synonyms)

Synonym(s):
- Hemoglobin M disease
- Hereditary methemoglobinemia due to hemoglobin mutation
- M hemoglobinopathy

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

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

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

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

No signs/symptoms info available.