HYPEREKPLEXIA 3

General Information (adopted from Orphanet):

Synonyms, Signs: HKPX3
Number of Symptoms 11
OrphanetNr:
OMIM Id: 614618
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
Autosomal recessive inheritance
[Omim]
Age of onset: Infantile onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002267) Exaggerated startle response 42 / 7739
2
(HPO:0001276) Hypertonia 317 / 7739
3
(HPO:0002104) Apnea 106 / 7739
4
(HPO:0003552) Muscle stiffness 23 / 7739
5
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
6
(OMIM) Exaggerated startle response to tactile or acoustic stimuli 1 / 7739
7
(OMIM) Apneic episodes, neonatal 1 / 7739
8
(OMIM) Breath-holding episodes, infancy 1 / 7739
9
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
10
(MedDRA:10048615) Hypertonia neonatal 1 / 7739
11
(HPO:0003593) Infantile onset 249 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Rees et al. (2006) reported 7 patients, including 2 sibs, with hyperekplexia. Affected individuals presented with neonatal hypertonia, an exaggerated startle response to tactile or acoustic stimuli, and life-threatening neonatal apnea episodes. Notably, in some cases, symptoms resolved ...
Molecular genetics OMIM In 6 patients, including 2 brothers, with hyperekplexia-3, Rees et al. (2006) identified homozygous or compound heterozygous mutations in the SLC6A5 gene (see, e.g., 604159.0001-604159.0007). An additional patient with the disorder was found to carry a heterozygous mutation ...