HKPX4
MCID: HYP825
MIFTS: 19

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 58 76 6
Hkpx4 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
hyperekplexia 4:
Onset and clinical course congenital onset progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hyperekplexia 4

OMIM : 58 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

UniProtKB/Swiss-Prot : 76 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:

33 (show all 14)
# Description HPO Frequency HPO Source Accession
1 cerebral atrophy 33 very rare (1%) HP:0002059
2 seizures 33 HP:0001250
3 hyperreflexia 33 HP:0001347
4 inguinal hernia 33 HP:0000023
5 global developmental delay 33 HP:0001263
6 umbilical hernia 33 HP:0001537
7 hypertonia 33 HP:0001276
8 myoclonus 33 HP:0001336
9 respiratory failure 33 HP:0002878
10 adducted thumb 33 HP:0001181
11 encephalopathy 33 HP:0001298
12 hypsarrhythmia 33 HP:0002521
13 camptodactyly 33 HP:0012385
14 distal arthrogryposis 33 HP:0005684

Symptoms via clinical synopsis from OMIM:

58
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

Skeletal Feet:
club feet

Head And Neck Eyes:
poor or absent eye contact

Respiratory:
respiratory insufficiency
respiratory failure

Skeletal Spine:
kyphoscoliosis

Head And Neck Mouth:
high-arched palate

Skeletal:
contractures
distal arthrogryposis

Clinical features from OMIM:

618011

Drugs & Therapeutics for Hyperekplexia 4

Search Clinical Trials , NIH Clinical Center for Hyperekplexia 4

Genetic Tests for Hyperekplexia 4

Anatomical Context for Hyperekplexia 4

MalaCards organs/tissues related to Hyperekplexia 4:

42
Eye

Publications for Hyperekplexia 4

Variations for Hyperekplexia 4

ClinVar genetic disease variations for Hyperekplexia 4:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ATAD1 NM_032810.3(ATAD1): c.826G> T (p.Glu276Ter) single nucleotide variant Pathogenic rs1554874859 GRCh37 Chromosome 10, 89527435: 89527435
2 ATAD1 NM_032810.3(ATAD1): c.826G> T (p.Glu276Ter) single nucleotide variant Pathogenic rs1554874859 GRCh38 Chromosome 10, 87767678: 87767678
3 ATAD1 NM_032810.3(ATAD1): c.1070_1071delAT (p.His357Argfs) deletion Pathogenic rs751499706 GRCh37 Chromosome 10, 89514459: 89514460
4 ATAD1 NM_032810.3(ATAD1): c.1070_1071delAT (p.His357Argfs) deletion Pathogenic rs751499706 GRCh38 Chromosome 10, 87754702: 87754703
5 ATAD1 NM_032810.3(ATAD1): c.162G> C (p.Gln54His) single nucleotide variant Uncertain significance rs1554884979 GRCh37 Chromosome 10, 89574195: 89574195
6 ATAD1 NM_032810.3(ATAD1): c.162G> C (p.Gln54His) single nucleotide variant Uncertain significance rs1554884979 GRCh38 Chromosome 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
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45 MeSH
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50 NCI
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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