Hyperekplexia 4 (HKPX4)

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OMIM 57 618011 MedGen 42 CN248518

MeSH 44 D000071017 SNOMED-CT via HPO 69 258211005 396232000 128613002 246545002 313307000 84757009 91175000 224958001 41581000 56731001 81308009 127324008 17450006 86854008 396347007 278849000 418143002 52522001 28055006 409622000 252157006 255314001 24269006 29271008 more

OMIM : ⁵⁷ 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 seizures and hyperreflexia

UniProtKB/Swiss-Prot : ⁷⁵ 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.