LKDMN
MCID: LKN010
MIFTS: 24

Leukoencephalopathy with Dystonia and Motor Neuropathy (LKDMN)

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Leukoencephalopathy with Dystonia and Motor Neuropathy

MalaCards integrated aliases for Leukoencephalopathy with Dystonia and Motor Neuropathy:

Name: Leukoencephalopathy with Dystonia and Motor Neuropathy 58 54 76 38 30 13 6 41 74
Sterol Carrier Protein 2 Deficiency 58 54 76
Leukoencephalopathy-Dystonia-Motor Neuropathy Syndrome 54 60
Lkdmn 58 76
Leukoencephalopathy - Dystonia - Motor Neuropathy 54
Sterol Carrier Protein-2 13

Characteristics:

Orphanet epidemiological data:

60
leukoencephalopathy-dystonia-motor neuropathy syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
stressful situations can exacerbate symptoms
one patient has been described (last curated may 2006)


HPO:

33
leukoencephalopathy with dystonia and motor neuropathy:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Leukoencephalopathy with Dystonia and Motor Neuropathy

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 163684Disease definitionLeukoencephalopathy-dystonia-motor neuropathy syndrome is a peroxisomal neurodegenerative disorder characterized by spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotrophic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus, butterfly-like lesions in the pons, and lesions in the occipital region, whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory neuropathy.Visit the Orphanet disease page for more resources.

MalaCards based summary : Leukoencephalopathy with Dystonia and Motor Neuropathy, also known as sterol carrier protein 2 deficiency, is related to yellow fever and atherosclerosis susceptibility, and has symptoms including spasmodic torticollis An important gene associated with Leukoencephalopathy with Dystonia and Motor Neuropathy is SCP2 (Sterol Carrier Protein 2), and among its related pathways/superpathways are Primary bile acid biosynthesis and PPAR signaling pathway. Affiliated tissues include eye, pons and thalamus, and related phenotypes are peripheral neuropathy and intention tremor

UniProtKB/Swiss-Prot : 76 Leukoencephalopathy with dystonia and motor neuropathy: A syndrome characterized by leukoencephalopathy, dystonic head tremor, spasmodic torticollis and reduced tendon reflexes in lower extremities. Additional features include hyposmia, pathologic saccadic eye movements, a slight hypoacusis, accumulation of branched-chain pristanic acid in plasma, and the presence of abnormal bile alcohol glucuronides in urine.

Description from OMIM: 613724

Related Diseases for Leukoencephalopathy with Dystonia and Motor Neuropathy

Diseases related to Leukoencephalopathy with Dystonia and Motor Neuropathy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 yellow fever 10.4
2 atherosclerosis susceptibility 10.0
3 lipid metabolism disorder 10.0
4 distal trisomy 11q 10.0

Symptoms & Phenotypes for Leukoencephalopathy with Dystonia and Motor Neuropathy

Human phenotypes related to Leukoencephalopathy with Dystonia and Motor Neuropathy:

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 peripheral neuropathy 33 HP:0009830
2 intention tremor 33 HP:0002080
3 hypergonadotropic hypogonadism 33 HP:0000815
4 azoospermia 33 HP:0000027
5 torticollis 33 HP:0000473
6 hyposmia 33 HP:0004409
7 head tremor 33 HP:0002346
8 abnormality of thalamus morphology 33 HP:0010663
9 leukoencephalopathy 33 HP:0002352
10 abnormal motor neuron morphology 33 HP:0002450
11 abnormal saccadic eye movements 33 HP:0000570

Symptoms via clinical synopsis from OMIM:

58
Genitourinary Internal Genitalia Male:
azoospermia
hypergonadotrophic hypogonadism

Head And Neck Eyes:
saccadic eye movements

Neurologic Central Nervous System:
spasmodic torticollis
dystonic head tremor
bilateral hyperintense signals seen on mri
butterfly lesions of the pons

Clinical features from OMIM:

613724

UMLS symptoms related to Leukoencephalopathy with Dystonia and Motor Neuropathy:


spasmodic torticollis

Drugs & Therapeutics for Leukoencephalopathy with Dystonia and Motor Neuropathy

Search Clinical Trials , NIH Clinical Center for Leukoencephalopathy with Dystonia and Motor Neuropathy

Genetic Tests for Leukoencephalopathy with Dystonia and Motor Neuropathy

Genetic tests related to Leukoencephalopathy with Dystonia and Motor Neuropathy:

# Genetic test Affiliating Genes
1 Leukoencephalopathy with Dystonia and Motor Neuropathy 30 SCP2

Anatomical Context for Leukoencephalopathy with Dystonia and Motor Neuropathy

MalaCards organs/tissues related to Leukoencephalopathy with Dystonia and Motor Neuropathy:

42
Eye, Pons, Thalamus

Publications for Leukoencephalopathy with Dystonia and Motor Neuropathy

Articles related to Leukoencephalopathy with Dystonia and Motor Neuropathy:

# Title Authors Year
1
Sterol carrier protein-2 deficiency attenuates diet-induced dyslipidemia and atherosclerosis in mice. ( 29700117 )
2018

Variations for Leukoencephalopathy with Dystonia and Motor Neuropathy

ClinVar genetic disease variations for Leukoencephalopathy with Dystonia and Motor Neuropathy:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SCP2 SCP2, 1-BP INS, 545A insertion Pathogenic
2 SCP2 NM_002979.4(SCP2): c.825+1G> T single nucleotide variant Likely pathogenic rs144132787 GRCh37 Chromosome 1, 53444040: 53444040
3 SCP2 NM_002979.4(SCP2): c.825+1G> T single nucleotide variant Likely pathogenic rs144132787 GRCh38 Chromosome 1, 52978368: 52978368
4 SCP2 NM_002979.4(SCP2): c.825G> T (p.Met275Ile) single nucleotide variant not provided GRCh37 Chromosome 1, 53444039: 53444039
5 SCP2 NM_002979.4(SCP2): c.825G> T (p.Met275Ile) single nucleotide variant not provided GRCh38 Chromosome 1, 52978367: 52978367

Expression for Leukoencephalopathy with Dystonia and Motor Neuropathy

Search GEO for disease gene expression data for Leukoencephalopathy with Dystonia and Motor Neuropathy.

Pathways for Leukoencephalopathy with Dystonia and Motor Neuropathy

Pathways related to Leukoencephalopathy with Dystonia and Motor Neuropathy according to KEGG:

38
# Name Kegg Source Accession
1 Primary bile acid biosynthesis hsa00120
2 PPAR signaling pathway hsa03320
3 Peroxisome hsa04146

GO Terms for Leukoencephalopathy with Dystonia and Motor Neuropathy

Sources for Leukoencephalopathy with Dystonia and Motor Neuropathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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