LEMSPAD
MCID: LKN031
MIFTS: 9

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

Categories: Genetic diseases

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 6
Lemspad 57 73
Lemspad Syndrome 57

Classifications:



External Ids:

OMIM® 57 618878
MeSH 44 D056784
MedGen 41 CN280927

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

UniProtKB/Swiss-Prot : 73 Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome: 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).

More information from OMIM: 618878

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

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

Clinical features from OMIM®:

618878 (Updated 05-Mar-2021)

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...

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

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. 6 57
32197074 2020

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

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

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 EIF2AK1 NM_014413.4(EIF2AK1):c.1342A>G (p.Ile448Val) SNV Pathogenic 804245 rs1583476115 7:6068654-6068654 7:6029023-6029023

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...

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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