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Hereditary cryohydrocytosis with reduced stomatin
1 OMIM reference -
1 associated gene
No signs/symptoms info
COMMON GENES: 1
Epilepsy with myoclonic-astatic seizures
3 associated genes
No signs/symptoms info
Hereditary cryohydrocytosis with reduced stomatin
Epilepsy with myoclonic-astatic seizures

SLC2A1
(UniProt - OMIM)
 CHD2
(UniProt - OMIM)
SCN1A
(UniProt - OMIM)
SLC2A1
(UniProt - OMIM)

COMMON
GENES 		SLC2A1


Citations in the biomedical literature:


Hereditary cryohydrocytosis with reduced stomatin
SLC2A1
Epilepsy with myoclonic-astatic seizures
CHD2 SCN1A



Hereditary cryohydrocytosis with reduced stomatin
Epilepsy with myoclonic-astatic seizures

Synonym(s):
- CHC type 2
- Hereditary cryohydrocytosis type 2
- Stomatin-deficient cryohydrocytosis
- sdCHC
Synonym(s):
- Doose syndrome
- EMAS
- Epilepsy with myoclonic-atonic seizures
- MAE
- Myoclonic atonic epilepsy
- Myoclonic-astatic epilepsy in early childhood
Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease
- Rare neurologic 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:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: unknown
External references:
1 OMIM reference -
No MeSH references
External references:
No OMIM references
No MeSH references
No signs/symptoms info available.