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MCID: HYP825
MIFTS: 15
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Hyperekplexia 4
Categories:
Genetic diseases, Neuronal diseases, Rare diseases, Metabolic diseases
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MalaCards integrated aliases for Hyperekplexia 4:
Name: Hyperekplexia 4
57
6
Characteristics:OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
progressive disorder onset at birth death usually in early childhood HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases |
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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. |
Diseases in the Hyperekplexia family:
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:618011 |
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MalaCards organs/tissues related to Hyperekplexia 4:41
Eye
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ClinVar genetic disease variations for Hyperekplexia 4:6
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Search
GEO
for disease gene expression data for Hyperekplexia 4.
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