LEMSPAD
MCID: LKN031
MIFTS: 17

Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome (LEMSPAD)

Categories: Genetic diseases
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Aliases & Classifications for Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria...

MalaCards integrated aliases for Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome:

Name: Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome 57 73 28 5 38
Lemspad 57 73
Lemspad Syndrome 57

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset in infancy
progressive disorder
de novo mutation
normal school with accommodations
one patient has been reported (last curated may 2020)


Classifications:



Summaries for Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria...

UniProtKB/Swiss-Prot: 73 A disorder characterized by delayed motor development, speech delay with dysarthria, hypertonia, progressive spasticity, hyperreflexia, and bradykinesia. Cognition is normal. Patients manifest anxiety and attention deficit-hyperactivity disorder.

MalaCards based summary: Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome, is also known as lemspad. An important gene associated with Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome is EIF2AK1 (Eukaryotic Translation Initiation Factor 2 Alpha Kinase 1). Affiliated tissues include brain, and related phenotypes are dysarthria and hypotonia

More information from OMIM: 618878

Related Diseases for Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria...

Symptoms & Phenotypes for Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria...

Human phenotypes related to Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome:

30 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysarthria 30 Very rare (1%) HP:0001260
2 hypotonia 30 Very rare (1%) HP:0001252
3 delayed speech and language development 30 Very rare (1%) HP:0000750
4 attention deficit hyperactivity disorder 30 Very rare (1%) HP:0007018
5 anxiety 30 Very rare (1%) HP:0000739
6 lower limb spasticity 30 Very rare (1%) HP:0002061
7 urinary urgency 30 Very rare (1%) HP:0000012
8 bradykinesia 30 Very rare (1%) HP:0002067
9 delayed ability to walk 30 Very rare (1%) HP:0031936

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
spasticity
hyperreflexia
dysarthria
hypertonia
toe walking
more
Neurologic Behavioral Psychiatric Manifestations:
anxiety
adhd

Clinical features from OMIM®:

618878 (Updated 08-Dec-2022)

Drugs & Therapeutics for Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria...

Search Clinical Trials, NIH Clinical Center for Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome

Genetic Tests for Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria...

Genetic tests related to Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome:

# Genetic test Affiliating Genes
1 Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome 28 EIF2AK1

Anatomical Context for Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria...

Organs/tissues related to Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome:

MalaCards : Brain

Publications for Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria...

Articles related to Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome:

# Title Authors PMID Year
1
De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation. 57 5
32197074 2020

Variations for Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria...

ClinVar genetic disease variations for Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EIF2AK1 NM_014413.4(EIF2AK1):c.1342A>G (p.Ile448Val) SNV Pathogenic
804245 rs1583476115 GRCh37: 7:6068654-6068654
GRCh38: 7:6029023-6029023
2 EIF2AK1 NM_014413.4(EIF2AK1):c.1144A>G (p.Ile382Val) SNV Uncertain Significance
1679575 GRCh37: 7:6078278-6078278
GRCh38: 7:6038647-6038647

Expression for Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria...

Search GEO for disease gene expression data for Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome.

Pathways for Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria...

GO Terms for Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria...

Sources for Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria...

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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