NEDNEH
MCID: NRD071
MIFTS: 20

Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements (NEDNEH)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder with Seizures and Nonepileptic...

MalaCards integrated aliases for Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements:

Name: Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements 56 73 29 6
Neurodevelopmental Disorder with Seizures and Non-Epileptic Hyperkinetic Movements 73 17
Nedneh 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
early death may occur
onset in infancy or first years of life
some patients may have early normal development


HPO:

31
neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Neurodevelopmental Disorder with Seizures and Nonepileptic...

OMIM : 56 Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements (NEDNEH) is an autosomal recessive severe neurologic disorder characterized by delayed psychomotor development with inability to walk or speak, early-onset refractory seizures, and nonepileptic hyperkinetic movement disorders, including myoclonus dystonia and dyskinesias. Patients require tube feeding and may die of respiratory failure in childhood or in the second decade (summary by Gorman et al., 2019). (618497)

MalaCards based summary : Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements, is also known as neurodevelopmental disorder with seizures and non-epileptic hyperkinetic movements. An important gene associated with Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements is CACNA1B (Calcium Voltage-Gated Channel Subunit Alpha1 B). Related phenotypes are cerebral atrophy and global developmental delay

UniProtKB/Swiss-Prot : 73 Neurodevelopmental disorder with seizures and non-epileptic hyperkinetic movements: An autosomal recessive, complex and progressive neurologic disorder characterized by severe neurodevelopmental delay and developmental regression, epileptic encephalopathy, postnatal microcephaly, hypotonia, and non-epileptic hyperkinetic movement disorder, including myoclonus dystonia, choreoathetosis, or generalized dyskinesia. Disease onset in infancy or first years of life.

Related Diseases for Neurodevelopmental Disorder with Seizures and Nonepileptic...

Symptoms & Phenotypes for Neurodevelopmental Disorder with Seizures and Nonepileptic...

Human phenotypes related to Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements:

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 cerebral atrophy 31 very rare (1%) HP:0002059
2 global developmental delay 31 HP:0001263
3 recurrent respiratory infections 31 HP:0002205
4 developmental regression 31 HP:0002376
5 nystagmus 31 HP:0000639
6 myoclonus 31 HP:0001336
7 strabismus 31 HP:0000486
8 absent speech 31 HP:0001344
9 dystonia 31 HP:0001332
10 choreoathetosis 31 HP:0001266
11 postnatal microcephaly 31 HP:0005484
12 central hypotonia 31 HP:0011398
13 inability to walk 31 HP:0002540
14 cerebral visual impairment 31 HP:0100704
15 epileptic encephalopathy 31 HP:0200134
16 hyperkinetic movements 31 HP:0002487
17 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
global developmental delay
developmental regression
myoclonus
absent speech
dystonia
more
Muscle Soft Tissue:
central hypotonia
peripheral hypertonia

Respiratory:
respiratory infections, recurrent

Head And Neck Face:
oromotor dyskinesia

Head And Neck Eyes:
nystagmus
strabismus
poor visual fixation
cortical visual impairment

Head And Neck Head:
microcephaly, postnatal

Abdomen Gastrointestinal:
tube feeding

Clinical features from OMIM:

618497

Drugs & Therapeutics for Neurodevelopmental Disorder with Seizures and Nonepileptic...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements

Genetic Tests for Neurodevelopmental Disorder with Seizures and Nonepileptic...

Genetic tests related to Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements:

# Genetic test Affiliating Genes
1 Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements 29

Anatomical Context for Neurodevelopmental Disorder with Seizures and Nonepileptic...

Publications for Neurodevelopmental Disorder with Seizures and Nonepileptic...

Articles related to Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements:

# Title Authors PMID Year
1
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia. 6 56
30982612 2019

Variations for Neurodevelopmental Disorder with Seizures and Nonepileptic...

ClinVar genetic disease variations for Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CACNA1B NM_000718.4(CACNA1B):c.3665del (p.Leu1222fs)deletion Pathogenic 635833 9:140943722-140943722 9:138049270-138049270
2 CACNA1B NM_000718.4(CACNA1B):c.3573_3574del (p.Gly1192fs)deletion Pathogenic 635834 9:140941880-140941881 9:138047428-138047429
3 CACNA1B NM_000718.4(CACNA1B):c.4857+1G>CSNV Pathogenic 635835 9:140968519-140968519 9:138074067-138074067
4 CACNA1B NM_000718.4(CACNA1B):c.1147C>T (p.Arg383Ter)SNV Pathogenic 635836 9:140850226-140850226 9:137955774-137955774
5 CACNA1B NM_000718.4(CACNA1B):c.2093-4C>ASNV Benign/Likely benign 770757 9:140904458-140904458 9:138010006-138010006
6 CACNA1B NM_000718.4(CACNA1B):c.501C>G (p.Asn167Lys)SNV Benign 802555 9:140777306-140777306 9:137882854-137882854
7 CACNA1B NM_000718.4(CACNA1B):c.2986_3000del (p.Thr996_Glu1000del)deletion Benign 802556 9:140918171-140918185 9:138023719-138023733

Expression for Neurodevelopmental Disorder with Seizures and Nonepileptic...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements.

Pathways for Neurodevelopmental Disorder with Seizures and Nonepileptic...

GO Terms for Neurodevelopmental Disorder with Seizures and Nonepileptic...

Sources for Neurodevelopmental Disorder with Seizures and Nonepileptic...

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
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43 MeSH
44 MESH via Orphanet
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48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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