NEDEHCC
MCID: NRD055
MIFTS: 17

Neurodevelopmental Disorder with Epilepsy and Hypoplasia of the Corpus Callosum (NEDEHCC)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder with Epilepsy and Hypoplasia of the...

MalaCards integrated aliases for Neurodevelopmental Disorder with Epilepsy and Hypoplasia of the Corpus Callosum:

Name: Neurodevelopmental Disorder with Epilepsy and Hypoplasia of the Corpus Callosum 57 72 29 6
Nedehcc 57 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy or early childhood
one patient was in a vegetative state at age 13.5 years
three patients from 2 unrelated consanguineous families have been reported (last curated august 2018)


HPO:

31
neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Neurodevelopmental Disorder with Epilepsy and Hypoplasia of the...

UniProtKB/Swiss-Prot : 72 Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum: An autosomal recessive disorder characterized by severe psychomotor delay, intellectual disability, hypotonia, epilepsy, and corpus callosum hypoplasia. Some patients show mild cerebellar hypoplasia and atrophy.

MalaCards based summary : Neurodevelopmental Disorder with Epilepsy and Hypoplasia of the Corpus Callosum, is also known as nedehcc. An important gene associated with Neurodevelopmental Disorder with Epilepsy and Hypoplasia of the Corpus Callosum is LNPK (Lunapark, ER Junction Formation Factor). Related phenotypes are tremor and global developmental delay

More information from OMIM: 618090

Related Diseases for Neurodevelopmental Disorder with Epilepsy and Hypoplasia of the...

Symptoms & Phenotypes for Neurodevelopmental Disorder with Epilepsy and Hypoplasia of the...

Human phenotypes related to Neurodevelopmental Disorder with Epilepsy and Hypoplasia of the Corpus Callosum:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 tremor 31 HP:0001337
2 global developmental delay 31 HP:0001263
3 absent speech 31 HP:0001344
4 dysmetria 31 HP:0001310
5 hypoplasia of the corpus callosum 31 HP:0002079
6 cerebellar atrophy 31 HP:0001272
7 rigidity 31 HP:0002063
8 hyperactivity 31 HP:0000752
9 generalized hypotonia 31 HP:0001290
10 inability to walk 31 HP:0002540
11 generalized myoclonic seizure 31 HP:0002123

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
tremor
dysmetria
hypoplasia of the corpus callosum
rigidity
more
Muscle Soft Tissue:
hypotonia

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
inattention
defects in social interactions

Growth Other:
poor overall growth

Clinical features from OMIM®:

618090 (Updated 05-Apr-2021)

Drugs & Therapeutics for Neurodevelopmental Disorder with Epilepsy and Hypoplasia of the...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Epilepsy and Hypoplasia of the Corpus Callosum

Genetic Tests for Neurodevelopmental Disorder with Epilepsy and Hypoplasia of the...

Genetic tests related to Neurodevelopmental Disorder with Epilepsy and Hypoplasia of the Corpus Callosum:

# Genetic test Affiliating Genes
1 Neurodevelopmental Disorder with Epilepsy and Hypoplasia of the Corpus Callosum 29 LNPK

Anatomical Context for Neurodevelopmental Disorder with Epilepsy and Hypoplasia of the...

Publications for Neurodevelopmental Disorder with Epilepsy and Hypoplasia of the...

Articles related to Neurodevelopmental Disorder with Epilepsy and Hypoplasia of the Corpus Callosum:

# Title Authors PMID Year
1
Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome. 57 6
30032983 2018

Variations for Neurodevelopmental Disorder with Epilepsy and Hypoplasia of the...

ClinVar genetic disease variations for Neurodevelopmental Disorder with Epilepsy and Hypoplasia of the Corpus Callosum:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LNPK NM_030650.3(LNPK):c.726del (p.Pro243fs) Deletion Pathogenic 559606 rs1553498948 GRCh37: 2:176804366-176804366
GRCh38: 2:175939638-175939638
2 LNPK NM_030650.3(LNPK):c.751C>T (p.Arg251Ter) SNV Pathogenic 559607 rs1391644554 GRCh37: 2:176804341-176804341
GRCh38: 2:175939613-175939613
3 LNPK NM_030650.3(LNPK):c.1054+1G>C SNV Pathogenic 1028894 GRCh37: 2:176802071-176802071
GRCh38: 2:175937343-175937343
4 LNPK NM_030650.3(LNPK):c.896C>T (p.Ala299Val) SNV Uncertain significance 870590 GRCh37: 2:176802230-176802230
GRCh38: 2:175937502-175937502

Expression for Neurodevelopmental Disorder with Epilepsy and Hypoplasia of the...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Epilepsy and Hypoplasia of the Corpus Callosum.

Pathways for Neurodevelopmental Disorder with Epilepsy and Hypoplasia of the...

GO Terms for Neurodevelopmental Disorder with Epilepsy and Hypoplasia of the...

Sources for Neurodevelopmental Disorder with Epilepsy and Hypoplasia of the...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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