LEUDEN
MCID: LKN030
MIFTS: 22

Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Syndrome (LEUDEN)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Leukoencephalopathy, Developmental Delay, and Episodic Neurologic...

MalaCards integrated aliases for Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Syndrome:

Name: Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Syndrome 57 73 6
Leuden 57 73
Leuden Syndrome 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
progressive disorder
de novo mutation
episodic neurologic regression is associated with fever or illness


HPO:

31
leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Leukoencephalopathy, Developmental Delay, and Episodic Neurologic...

OMIM® : 57 Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome (LEUDEN) is characterized by global developmental delay apparent in early childhood, followed by episodic neurologic regression or decompensation associated with systemic stress, such as febrile infection. Affected individuals have hypotonia, gait difficulties or ataxia, poor or absent speech with dysarthria, and variable motor abnormalities, including spasticity, dystonia, extrapyramidal signs, and tremor. Many patients have seizures. Brain imaging shows diffuse white matter abnormalities, poor myelination, thin corpus callosum, and generalized cerebral atrophy with enlarged ventricles. The clinical features of the disorder and the abnormal brain imaging findings are progressive (summary by Mao et al., 2020). (618877) (Updated 05-Mar-2021)

MalaCards based summary : Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Syndrome, is also known as leuden. An important gene associated with Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Syndrome is EIF2AK2 (Eukaryotic Translation Initiation Factor 2 Alpha Kinase 2). Affiliated tissues include brain and spinal cord, and related phenotypes are spasticity and dysarthria

UniProtKB/Swiss-Prot : 73 Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome: An autosomal dominant disorder characterized by global developmental delay apparent in early childhood, cognitive impairment, ataxia, poor or absent speech with dysarthria, hypotonia, hypertonia, extrapyramidal signs, tremor, and abnormal involuntary movements. Affected individuals also exhibit neurological regression in the setting of febrile illness or infection. Many patients have seizures. Brain imaging shows diffuse white matter abnormalities with poor myelination.

Related Diseases for Leukoencephalopathy, Developmental Delay, and Episodic Neurologic...

Symptoms & Phenotypes for Leukoencephalopathy, Developmental Delay, and Episodic Neurologic...

Human phenotypes related to Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Syndrome:

31 (show all 25)
# Description HPO Frequency HPO Source Accession
1 spasticity 31 very rare (1%) HP:0001257
2 dysarthria 31 very rare (1%) HP:0001260
3 bowel incontinence 31 very rare (1%) HP:0002607
4 microcephaly 31 very rare (1%) HP:0000252
5 myoclonus 31 very rare (1%) HP:0001336
6 absent speech 31 very rare (1%) HP:0001344
7 mask-like facies 31 very rare (1%) HP:0000298
8 dystonia 31 very rare (1%) HP:0001332
9 hemiballismus 31 very rare (1%) HP:0100248
10 polymicrogyria 31 very rare (1%) HP:0002126
11 gait ataxia 31 very rare (1%) HP:0002066
12 rigidity 31 very rare (1%) HP:0002063
13 choreoathetosis 31 very rare (1%) HP:0001266
14 gastroparesis 31 very rare (1%) HP:0002578
15 urinary incontinence 31 very rare (1%) HP:0000020
16 inability to walk 31 very rare (1%) HP:0002540
17 parkinsonism 31 very rare (1%) HP:0001300
18 truncal ataxia 31 very rare (1%) HP:0002078
19 bradykinesia 31 very rare (1%) HP:0002067
20 head titubation 31 very rare (1%) HP:0002599
21 delayed cns myelination 31 very rare (1%) HP:0002188
22 seizure 31 very rare (1%) HP:0001250
23 hypotonia 31 very rare (1%) HP:0001252
24 hypoplasia of the corpus callosum 31 HP:0002079
25 cerebral atrophy 31 HP:0002059

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
spasticity
ataxia
dysarthria
tremor
global developmental delay
more
Growth Other:
intrauterine growth retardation
poor overall growth

Skeletal Hands:
fifth finger clinodactyly

Head And Neck Head:
decreased head circumference, progressive (in some patients)

Head And Neck Eyes:
nystagmus
strabismus
hypotelorism
astigmatism
epicanthal folds

Head And Neck Face:
micrognathia
short philtrum
dysmorphic facial features, variable (in some patients)

Skeletal Feet:
fifth toe clinodactyly

Skeletal:
contractures, progressive (in some patients)

Clinical features from OMIM®:

618877 (Updated 05-Mar-2021)

Drugs & Therapeutics for Leukoencephalopathy, Developmental Delay, and Episodic Neurologic...

Search Clinical Trials , NIH Clinical Center for Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Syndrome

Genetic Tests for Leukoencephalopathy, Developmental Delay, and Episodic Neurologic...

Anatomical Context for Leukoencephalopathy, Developmental Delay, and Episodic Neurologic...

MalaCards organs/tissues related to Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Syndrome:

40
Brain, Spinal Cord

Publications for Leukoencephalopathy, Developmental Delay, and Episodic Neurologic...

Articles related to Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Syndrome:

# Title Authors PMID Year
1
De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation. 6 57
32197074 2020
2
EIF2AK2-related Neurodevelopmental Disorder With Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Mimics Pelizaeus-Merzbacher Disease. 61
33553620 2021

Variations for Leukoencephalopathy, Developmental Delay, and Episodic Neurologic...

ClinVar genetic disease variations for Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 EIF2AK2 NM_001135651.3(EIF2AK2):c.31A>C (p.Met11Leu) SNV Uncertain significance 804246 rs1363544084 2:37374919-37374919 2:37147776-37147776
2 EIF2AK2 NM_001135651.3(EIF2AK2):c.398A>T (p.Tyr133Phe) SNV Uncertain significance 804253 rs1573029592 2:37366892-37366892 2:37139749-37139749
3 EIF2AK2 NM_001135651.3(EIF2AK2):c.1382C>G (p.Ser461Cys) SNV Uncertain significance 818200 rs1572996700 2:37336434-37336434 2:37109291-37109291
4 EIF2AK2 NM_001135651.3(EIF2AK2):c.325G>T (p.Ala109Ser) SNV Uncertain significance 872962 2:37368760-37368760 2:37141617-37141617
5 EIF2AK2 NM_001135651.3(EIF2AK2):c.95A>G (p.Asn32Ser) SNV Uncertain significance 872963
6 EIF2AK2 NM_001135651.3(EIF2AK2):c.290C>T (p.Ser97Phe) SNV Uncertain significance 813275 rs1573031939 2:37368795-37368795 2:37141652-37141652
7 EIF2AK2 NM_001135651.3(EIF2AK2):c.326C>T (p.Ala109Val) SNV Uncertain significance 813274 rs1573031858 2:37368759-37368759 2:37141616-37141616
8 EIF2AK2 NM_001135651.3(EIF2AK2):c.973G>A (p.Gly325Ser) SNV Uncertain significance 818084 rs1573010519 2:37349743-37349743 2:37122600-37122600

Expression for Leukoencephalopathy, Developmental Delay, and Episodic Neurologic...

Search GEO for disease gene expression data for Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Syndrome.

Pathways for Leukoencephalopathy, Developmental Delay, and Episodic Neurologic...

GO Terms for Leukoencephalopathy, Developmental Delay, and Episodic Neurologic...

Sources for Leukoencephalopathy, Developmental Delay, and Episodic Neurologic...

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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