HKPX4
MCID: HYP825
MIFTS: 20

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 75 6
Hkpx4 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

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


Classifications:



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 seizures and hyperreflexia

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
hyperreflexia
hypertonia
encephalopathy
myoclonic jerks
lack of psychomotor development
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

Human phenotypes related to Hyperekplexia 4:

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

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:

41
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 GRCh37 Chromosome 10, 89527435: 89527435
2 ATAD1 NM_032810.3(ATAD1): c.826G> T (p.Glu276Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 10, 87767678: 87767678
3 ATAD1 NM_032810.3(ATAD1): c.1070_1071delAT (p.His357Argfs) deletion Pathogenic GRCh37 Chromosome 10, 89514459: 89514460
4 ATAD1 NM_032810.3(ATAD1): c.1070_1071delAT (p.His357Argfs) deletion Pathogenic GRCh38 Chromosome 10, 87754702: 87754703
5 ATAD1 NM_032810.3(ATAD1): c.162G> C (p.Gln54His) single nucleotide variant Pathogenic GRCh37 Chromosome 10, 89574195: 89574195
6 ATAD1 NM_032810.3(ATAD1): c.162G> C (p.Gln54His) single nucleotide variant Pathogenic 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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37 KEGG
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40 LOVD
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44 MeSH
45 MESH via Orphanet
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49 NCI
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55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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