HKPX4
MCID: HYP825
MIFTS: 22

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 57 12 74 29 6
Hkpx4 57 74

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset at birth
death usually in early childhood


HPO:

32
hyperekplexia 4:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive congenital onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0080581
MeSH 44 D000071017

Summaries for Hyperekplexia 4

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 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 : 74 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:

32 (show all 17)
# Description HPO Frequency HPO Source Accession
1 cerebral atrophy 32 very rare (1%) HP:0002059
2 high palate 32 HP:0000218
3 seizures 32 HP:0001250
4 hyperreflexia 32 HP:0001347
5 inguinal hernia 32 HP:0000023
6 global developmental delay 32 HP:0001263
7 umbilical hernia 32 HP:0001537
8 hypertonia 32 HP:0001276
9 myoclonus 32 HP:0001336
10 talipes equinovarus 32 HP:0001762
11 kyphoscoliosis 32 HP:0002751
12 respiratory failure 32 HP:0002878
13 hypsarrhythmia 32 HP:0002521
14 adducted thumb 32 HP:0001181
15 encephalopathy 32 HP:0001298
16 camptodactyly 32 HP:0012385
17 distal arthrogryposis 32 HP:0005684

Symptoms via clinical synopsis from OMIM:

57
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:

41
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. 8 71
29659736 2018
2
A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy. 8 71
29390050 2018
3
Precision therapy for a new disorder of AMPA receptor recycling due to mutations in ATAD1. 8 71
28180185 2017
4
The AAA+ ATPase Thorase regulates AMPA receptor-dependent synaptic plasticity and behavior. 8
21496646 2011

Variations for Hyperekplexia 4

ClinVar genetic disease variations for Hyperekplexia 4:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ATAD1 NM_032810.3(ATAD1): c.826G> T (p.Glu276Ter) single nucleotide variant Pathogenic rs1554874859 10:89527435-89527435 10:87767678-87767678
2 ATAD1 NM_032810.3(ATAD1): c.1070_1071delAT deletion Pathogenic rs751499706 10:89514459-89514460 10:87754702-87754703
3 ATAD1 NM_001321969.1(ATAD1): c.-286G> C single nucleotide variant Uncertain significance 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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