MCID: HYP825
MIFTS: 15

Hyperekplexia 4

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

Aliases & Classifications for Hyperekplexia 4

MalaCards integrated aliases for Hyperekplexia 4:

Name: Hyperekplexia 4 57 6
Hkpx4 57

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


Classifications:



External Ids:

OMIM 57 618011
SNOMED-CT via HPO 69 258211005

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.

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

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: c.826G> T single nucleotide variant Pathogenic
2 ATAD1 NM_032810.3: c.1070_1071delAT deletion Pathogenic
3 ATAD1 NM_032810.3: c.162G> C single nucleotide variant Pathogenic

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
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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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