Hyperekplexia 4 (HKPX4)

External Ids:

Disease Ontology 12 DOID:0080581 OMIM 56 618011 OMIM Phenotypic Series 56 PS149400

MeSH 43 D000071017 MedGen 41 C4693933 CN248518 SNOMED-CT via HPO 68 127324008 128613002 17450006 224958001 24269006 246545002 249808002 252157006 255314001 258211005 27272007 278849000 28055006 29271008 313307000 396232000 396347007 397932003 405773007 409622000 41581000 418143002 52522001 56731001 81308009 84757009 86854008 91175000 more

OMIM : ⁵⁶ Hyperekplexia-4 is an autosomal recessive severe neurologic disorder apparent at birth. Affected infants have extreme hypertonia and appear stiff and rigid. They have little if any development, poor or absent visual contact, and no spontaneous movement, consistent with an encephalopathy. Some patients have early-onset refractory seizures, and many have inguinal or umbilical hernia. Most patients die in the first months of life due to respiratory failure or other complications (summary by Piard et al., 2018). For a general description and a discussion of genetic heterogeneity of hyperekplexia, see HKPX1 (149400). (618011)

MalaCards based summary : Hyperekplexia 4, is also known as hkpx4. An important gene associated with Hyperekplexia 4 is ATAD1 (ATPase Family AAA Domain Containing 1). Affiliated tissues include eye, and related phenotypes are cerebral atrophy and high palate

Disease Ontology : ¹² A hyperekplexia that is characterized by extreme hypertonia, stiff and rigid appeareance and that has material basis in homozygous mutation in the ATAD1 gene on chromosome 10q23.

UniProtKB/Swiss-Prot : ⁷³ Hyperekplexia 4: An autosomal recessive severe neurologic disorder apparent from birth. HKPX4 is characterized by little if any development, hypertonia, early-onset refractory seizures in some patients, and respiratory failure resulting in early death, mostly in the first months of life.

Clinical features from OMIM:

618011

Search Clinical Trials , NIH Clinical Center for Hyperekplexia 4

Search GEO for disease gene expression data for Hyperekplexia 4.