MCID: MYC075
MIFTS: 17

Myoclonus, Intractable, Neonatal

Categories: Genetic diseases

Aliases & Classifications for Myoclonus, Intractable, Neonatal

MalaCards integrated aliases for Myoclonus, Intractable, Neonatal:

Name: Myoclonus, Intractable, Neonatal 57 75 29 6
Neimy 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset at birth
three unrelated patients have been reported (last curated december 2016)
two patients died in infancy


HPO:

32
myoclonus, intractable, neonatal:
Onset and clinical course congenital onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Myoclonus, Intractable, Neonatal

OMIM : 57 Neonatal intractable myoclonus is a severe neurologic disorder characterized by the onset of intractable myoclonic seizures soon after birth. Affected infants have intermittent apnea, abnormal eye movements, pallor of the optic nerve, and lack of developmental progress. Brain imaging shows a progressive leukoencephalopathy. Some patients may die in infancy. There is phenotypic and biochemical evidence of mitochondrial dysfunction (summary by Duis et al., 2016). (617235)

MalaCards based summary : Myoclonus, Intractable, Neonatal, is also known as neimy. An important gene associated with Myoclonus, Intractable, Neonatal is KIF5A (Kinesin Family Member 5A). Affiliated tissues include brain, eye and pons, and related phenotypes are microcephaly and ptosis

UniProtKB/Swiss-Prot : 75 Myoclonus, intractable, neonatal: An autosomal dominant neurologic disorder characterized by severe, infantile-onset myoclonic seizures, hypotonia, optic nerve abnormalities, dysphagia, apnea, and early developmental arrest. Brain imaging shows a progressive leukoencephalopathy. Some patients may die in infancy.

Related Diseases for Myoclonus, Intractable, Neonatal

Symptoms & Phenotypes for Myoclonus, Intractable, Neonatal

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
ptosis
nystagmus
cortical visual impairment
abnormal saccades
optic nerve pallor
more
Head And Neck Head:
microcephaly

Muscle Soft Tissue:
hypotonia
type 1 fiber atrophy
myopathic features seen on biopsy
mitochondrial complex iv deficiency, mild
neuropathic features with reinnervation potentials seen on emg

Abdomen Gastrointestinal:
dysphagia
poor feeding

Neurologic Central Nervous System:
delayed myelination
developmental arrest
athetoid movements
leukoencephalopathy, progressive
choreiform movements
more
Respiratory:
apnea, intermittent


Clinical features from OMIM:

617235

Human phenotypes related to Myoclonus, Intractable, Neonatal:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 ptosis 32 HP:0000508
3 nystagmus 32 HP:0000639
4 generalized hypotonia 32 HP:0001290
5 dysphagia 32 HP:0002015
6 chorea 32 HP:0002072
7 athetosis 32 HP:0002305
8 progressive leukoencephalopathy 32 HP:0006980
9 developmental stagnation 32 HP:0007281
10 feeding difficulties 32 HP:0011968
11 delayed myelination 32 HP:0012448
12 cortical visual impairment 32 HP:0100704

Drugs & Therapeutics for Myoclonus, Intractable, Neonatal

Search Clinical Trials , NIH Clinical Center for Myoclonus, Intractable, Neonatal

Genetic Tests for Myoclonus, Intractable, Neonatal

Genetic tests related to Myoclonus, Intractable, Neonatal:

# Genetic test Affiliating Genes
1 Myoclonus, Intractable, Neonatal 29 KIF5A

Anatomical Context for Myoclonus, Intractable, Neonatal

MalaCards organs/tissues related to Myoclonus, Intractable, Neonatal:

41
Brain, Eye, Pons

Publications for Myoclonus, Intractable, Neonatal

Variations for Myoclonus, Intractable, Neonatal

ClinVar genetic disease variations for Myoclonus, Intractable, Neonatal:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KIF5A NM_004984.3(KIF5A): c.2854delC (p.Gln952Argfs) deletion Pathogenic rs1057519078 GRCh38 Chromosome 12, 57581513: 57581513
2 KIF5A NM_004984.3(KIF5A): c.2854delC (p.Gln952Argfs) deletion Pathogenic rs1057519078 GRCh37 Chromosome 12, 57975296: 57975296
3 KIF5A KIF5A, 1-BP DEL, 2934G deletion Pathogenic
4 KIF5A NM_004984.3(KIF5A): c.2921delC (p.Cys975Valfs) deletion Pathogenic rs1057517673 GRCh37 Chromosome 12, 57975664: 57975664
5 KIF5A NM_004984.3(KIF5A): c.2921delC (p.Cys975Valfs) deletion Pathogenic rs1057517673 GRCh38 Chromosome 12, 57581881: 57581881

Expression for Myoclonus, Intractable, Neonatal

Search GEO for disease gene expression data for Myoclonus, Intractable, Neonatal.

Pathways for Myoclonus, Intractable, Neonatal

GO Terms for Myoclonus, Intractable, Neonatal

Sources for Myoclonus, Intractable, Neonatal

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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