Hyperekplexia 1

Preferred Label : Hyperekplexia 1;

Symbol : HKPX1;

CISMeF acronym : HKPX1; STHE;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Stiff-man syndrome, congenital; Startle reaction, exaggerated; Exaggerated startle reaction; Kok disease; Stiff-baby syndrome; STHE; Startle disease, familial; Stiff-person syndrome, congenital;

Description : Hyperekplexia is an early-onset neurologic disorder characterized by an exaggerated startle response to sudden, unexpected auditory or tactile stimuli. Affected individuals have brief episodes of intense, generalized hypertonia in response to stimulation. Neonates may have prolonged periods of rigidity and are at risk for sudden death from apnea or aspiration. Many affected infants have inguinal hernias. The symptoms tend to resolve after infancy, but adults may have increased startle-induced falls and/or experience nocturnal muscle jerks (summary by Ryan et al., 1992). - Genetic Heterogeneity of Hyperekplexia See also HKPX2 (614619), caused by mutation in the GLRB gene (138492) on chromosome 4q31, and HKPX3 (614618), caused by mutation in the GLYT2 gene (SLC6A5; 604159) on chromosome 11p15. Hyperekplexia can also occur in early infantile epileptic encephalopathy-8 (EIEE8; 3006706), caused by mutation in the ARHGEF9 gene (300429). See also sporadic stiff-man syndrome (184850) and the 'Jumping Frenchmen of Maine' (244100).;

Inheritance : Autosomal dominant; Autosomal recessive;

Molecular basis : Caused by mutation in the alpha-1 subunit of the glycine receptor gene (GLRA1, 138491.0001);

Prefixed ID : #149400;

Details

Origin ID

149400;

UMLS CUI

C4551954;

Automatic exact mappings (from CISMeF team)
- Stiff-Person syndrome [MeSH Descriptor]
- hyperekplexia 1 [DO Concept]
Currated CISMeF NLP mapping
- Hereditary Hyperekplexia [MeSH concept]
- Hereditary hyperekplexia [ICD-11 More detail]
- Hereditary hyperekplexia [ORDO Disease]
- Hereditary hyperekplexia (disorder) [SNOMED CT concept]
- Hyperexplexia hereditary [MeSH concept]
- hyperekplexia [DO Concept]
- hyperexplexia hereditary [MeSH Supplementary Concept]
DO Cross reference
- hyperekplexia 1 [DO Concept]
Genes related to phenotype
- Glycine receptor, alpha-1 subunit [OMIM gene]
HPO term(s)
- Apnea [HPO term]
- Aspiration [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Exaggerated startle response [HPO term]
- Frequent falls [HPO term]
- Hip dislocation [HPO term]
- Hypertonia [HPO term]
- Hypokinesia [HPO term]
- Infantile onset [HPO term]
- Inguinal hernia [HPO term]
- Myoclonus [HPO term]
- Nocturnal seizures [HPO term]
- Seizure [HPO term]
- Umbilical hernia [HPO term]
ORDO concept(s)
- Hereditary hyperekplexia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hereditary hyperekplexia [ORDO Disease]
- Hyperexplexia hereditary [MeSH concept]
- hyperexplexia hereditary [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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