HKPX4
MCID: HYP825
MIFTS: 24

Hyperekplexia 4 (HKPX4)

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Hyperekplexia 4

MalaCards integrated aliases for Hyperekplexia 4:

Name: Hyperekplexia 4 56 12 73 29 6
Hkpx4 56 73

Characteristics:

OMIM:

56
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:



Summaries for Hyperekplexia 4

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 seizures

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.

Related Diseases for Hyperekplexia 4

Symptoms & Phenotypes for Hyperekplexia 4

Human phenotypes related to Hyperekplexia 4:

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 cerebral atrophy 31 very rare (1%) HP:0002059
2 seizures 31 HP:0001250
3 hyperreflexia 31 HP:0001347
4 high palate 31 HP:0000218
5 global developmental delay 31 HP:0001263
6 inguinal hernia 31 HP:0000023
7 umbilical hernia 31 HP:0001537
8 hypertonia 31 HP:0001276
9 myoclonus 31 HP:0001336
10 talipes equinovarus 31 HP:0001762
11 kyphoscoliosis 31 HP:0002751
12 respiratory failure 31 HP:0002878
13 hypsarrhythmia 31 HP:0002521
14 adducted thumb 31 HP:0001181
15 encephalopathy 31 HP:0001298
16 camptodactyly 31 HP:0012385
17 distal arthrogryposis 31 HP:0005684

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
hyperreflexia
hypertonia
encephalopathy
stiffness
myoclonic jerks
more
Muscle Soft Tissue:
inguinal hernia
umbilical hernia
hypertonia

Skeletal Hands:
camptodactyly
adducted thumbs
clenched fists

Head And Neck Mouth:
high-arched palate

Head And Neck Eyes:
poor or absent eye contact

Respiratory:
respiratory insufficiency
respiratory failure

Skeletal Spine:
kyphoscoliosis

Skeletal:
distal arthrogryposis
contractures

Skeletal Feet:
club feet

Clinical features from OMIM:

618011

Drugs & Therapeutics for Hyperekplexia 4

Search Clinical Trials , NIH Clinical Center for Hyperekplexia 4

Genetic Tests for Hyperekplexia 4

Genetic tests related to Hyperekplexia 4:

# Genetic test Affiliating Genes
1 Hyperekplexia 4 29 ATAD1

Anatomical Context for Hyperekplexia 4

MalaCards organs/tissues related to Hyperekplexia 4:

40
Eye

Publications for Hyperekplexia 4

Articles related to Hyperekplexia 4:

# Title Authors PMID Year
1
ATAD1 encephalopathy and stiff baby syndrome: a recognizable clinical presentation. 56 6
29659736 2018
2
A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy. 56 6
29390050 2018
3
Precision therapy for a new disorder of AMPA receptor recycling due to mutations in ATAD1. 56 6
28180185 2017
4
The AAA+ ATPase Thorase regulates AMPA receptor-dependent synaptic plasticity and behavior. 56
21496646 2011
5
Hereditary Hyperekplexia Overview 6
20301437 2007
6
Isoform heterogeneity of the human gephyrin gene (GPHN), binding domains to the glycine receptor, and mutation analysis in hyperekplexia. 6
12684523 2003

Variations for Hyperekplexia 4

ClinVar genetic disease variations for Hyperekplexia 4:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ATAD1 NM_032810.3(ATAD1):c.826G>T (p.Glu276Ter)SNV Pathogenic 545495 rs1554874859 10:89527435-89527435 10:87767678-87767678
2 ATAD1 NM_032810.3(ATAD1):c.1070_1071del (p.His357fs)deletion Pathogenic 545496 rs751499706 10:89514459-89514460 10:87754702-87754703
3 ATAD1 NM_001321969.1(ATAD1):c.-286G>CSNV Uncertain significance 545497 rs1554884979 10:89574195-89574195 10:87814438-87814438

Expression for Hyperekplexia 4

Search GEO for disease gene expression data for Hyperekplexia 4.

Pathways for Hyperekplexia 4

GO Terms for Hyperekplexia 4

Sources for Hyperekplexia 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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