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Hereditary hyperekplexia
3 OMIM references -
4 associated genes
8 connected diseases
18 signs/symptoms
Disease Type of connection
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Cystic fibrosis
Hyperekplexia - epilepsy
Amyotrophic lateral sclerosis
Fanconi anemia
Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism
Phosphoenolpyruvate carboxykinase 1 deficiency
Very long chain acyl-CoA dehydrogenase deficiency
Synonym(s):
- Congenital stiff man syndrome
- Familial startle disease
- Hereditary hyperexplexia
- Hyperekplexia
- Kok disease
- Stiff baby syndrome
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
3 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
GLRA1 P23415138491
GLRB P48167138492
GPHN Q9NQX3603930
SLC6A5 Q9Y345604159
Very frequent
- Ataxia / incoordination / trouble of the equilibrium
- Autosomal dominant inheritance
- Autosomal recessive inheritance
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Hypereflexia
- Hypertonia / spasticity / rigidity / stiffness
- Movement disorder
- Myoclonus / fasciculations
- Restricted joint mobility / joint stiffness / ankylosis

Frequent
- Abnormal gait
- Death in infancy
- Inguinal / inguinoscrotal / crural hernia
- Sleep and vigilance disorders
- Umbilical hernia

Occasional
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Joint dislocation / subluxation
- Seizures / epilepsy / absences / spasms / status epilepticus