| Symbol
| HHST1
|
| Location
| 9q34.1
|
| Name
|
hereditary hydrocytosis 1 |
| Other name(s)
|
overhydrated hereditary stomatocytosis
. potassium-sodium disorder of erythrocyte
. stomatocytosis I |
| Corresponding gene
|
STOM
|
| Other symbol(s)
| OHST, OHS
|
| Main clinical features
|
mouth-shaped erythrocytes (stomatocytosis)
. increased intracellular sodium, decreased intracellular potassium and stomatin deficiency from red cells on maturation in the bone marrow and in the circulation |
| Genetic determination
| autosomal dominant |
| Function/system disorder
| hematology |
| Type
| disease
|