LEUDEN
MCID: LKN030
MIFTS: 15

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 56 6
Leuden Syndrome 56
Leuden 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

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


Classifications:



External Ids:

OMIM 56 618877

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

OMIM : 56 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)

MalaCards based summary : Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Syndrome, is also known as leuden syndrome. 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.

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

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

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
global developmental delay
hypertonia
cognitive impairment
spasticity
ataxia
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

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 56
32197074 2020

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_002759.3:c.1382C>GSNV Pathogenic 872961
2 EIF2AK2 NM_0027759.3:c.325G>TSNV Pathogenic 872962
3 EIF2AK2 NM_001135651.3(EIF2AK2):c.95A>G (p.Asn32Ser)SNV Pathogenic 872963
4 EIF2AK2 NM_001135651.3(EIF2AK2):c.398A>T (p.Tyr133Phe)SNV Uncertain significance 804253 2:37366892-37366892 2:37139749-37139749
5 EIF2AK2 NM_001135651.3(EIF2AK2):c.31A>C (p.Met11Leu)SNV Uncertain significance 804246 2:37374919-37374919 2:37147776-37147776

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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
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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