|
HKPX4
MCID: HYP825
MIFTS: 23
|
Hyperekplexia 4 (HKPX4)
Categories:
Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases
|
|
|
|
MalaCards integrated aliases for Hyperekplexia 4:Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
progressive disorder onset at birth death usually in early childhood HPO:31
hyperekplexia 4:
Inheritance autosomal recessive inheritance Onset and clinical course progressive congenital onset Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases Respiratory diseases Muscle diseases Mental diseases |
|
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) (Updated 05-Mar-2021)
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 hyperreflexia 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. |
Diseases in the Hyperekplexia family:
|
Human phenotypes related to Hyperekplexia 4:31 (show all 17)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:618011 (Updated 05-Mar-2021) |
|
|
MalaCards organs/tissues related to Hyperekplexia 4:40
Eye
|
Articles related to Hyperekplexia 4:
|
Genes related to Hyperekplexia 4 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
|
ClinVar genetic disease variations for Hyperekplexia 4:6
|
|
Search
GEO
for disease gene expression data for Hyperekplexia 4.
|
|
|
|