MSeqDR Mitochondrial Disease Portal


 
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Disease Browser
Parent Node:
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Dystonia (D004421)
Parent Node:
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Leukoencephalopathies (D056784)
Parent Node:
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Polyneuropathies (D011115)
..Starting node
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LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY (OMIM:613724)

       Child Nodes:



 Sister Nodes: 
..expand46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy (C567773)
..expandAlcoholic Neuropathy (D020269)
..expandAplasia of Extensor Muscles of Fingers, Unilateral, with Generalized Polyneuropathy (C565945)
..expandAtaxia and Polyneuropathy, Adult-Onset (C564020)
..expandDeafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease (C565120)
..expandHereditary Sensory and Autonomic Neuropathies (D009477) Child12
..expandHereditary Sensory and Motor Neuropathy (D015417) Child164  LSDB C:3
..expandLaryngeal Abductor Paralysis with Cerebellar Ataxia and Motor Neuropathy (C565252)
..expandLEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY (OMIM:613724)
..expandLeukoencephalopathy with Dystonia and Motor Neuropathy, SCPx-Deficient (C566654)
..expandNeuropathy, Hereditary Sensory, Atypical (C564946)
..expandOptic atrophy polyneuropathy deafness (C537129)
..expandParaneoplastic Polyneuropathy (D020364)
..expandPeripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease (C563789)
..expandPOEMS Syndrome (D016878)
..expandPolyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract (C567203)
..expandPolyradiculoneuropathy (D011129) Child18
..expandRibose 5-Phosphate Isomerase Deficiency (C563212)
..expandSevere infantile axonal neuropathy (C537593)
..expandTangier Disease (D013631)
..expandTHIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE) (OMIM:613710)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:7012
Name:LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY
Definition:
Alternative IDs:
ParentIDs:MESH:D004421|MESH:D011115|MESH:D056784
TreeNumbers:C10.228.140.695/613724 |C10.597.350.300/613724 |C10.668.829.800/613724 |C23.888.592.350.300/613724
Synonyms:LKDMN |STEROL CARRIER PROTEIN 2 DEFICIENCY
Slim Mappings:Nervous system disease|Signs and symptoms
Reference: MedGen: 613724
MeSH: 613724
OMIM: 613724;
MSeqDR LSDB:  
Genes: SCP2;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0002450Abnormal motor neuron morphology
3 HP:0000570Abnormality of saccadic eye movements
4 HP:0010663Abnormality of thalamus morphology
5 HP:0000027Azoospermia
6 HP:0002346Head tremor
7 HP:0000815Hypergonadotropic hypogonadism
8 HP:0004409Hyposmia
9 HP:0002080Intention tremor
10 HP:0002352Leukoencephalopathy
11 HP:0009830Peripheral neuropathy
12 HP:0000473Torticollis
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_002979.5(SCP2):c.70-47del6342SCP2Benignrs143386725RCV000986321|RCV001541801; NMONDO:MONDO:0013391,MedGen:C3150990,OMIM:613724, Orphanet:163684|MedGen:CN51720215340740753407407CAC1:g.53407407_53407407del-
NM_002979.5(SCP2):c.550dup (p.Ile184fs)6342SCP2Pathogenicrs1572119109RCV000013658; NMONDO:MONDO:0013391,MedGen:C3150990,OMIM:613724, Orphanet:16368415344046253440463CCA1:g.53440462_53440463insAOMIM:184755.0001C3150990 613724 Leukoencephalopathy with dystonia and motor neuropathy;
NM_002979.5(SCP2):c.572A>G (p.His191Arg)6342SCP2Uncertain significance-1RCV001358209|RCV001871949; NMONDO:MONDO:0013391,MedGen:C3150990,OMIM:613724, Orphanet:163684|MedGen:CN51720215344048953440489AG53440489-
NM_002979.5(SCP2):c.825G>T (p.Met275Ile)6342SCP2not providedrs1557580517RCV000709777; NMONDO:MONDO:0013391,MedGen:C3150990,OMIM:613724, Orphanet:16368415344403953444039GTNC_000001.10:g.53444039G>T-
NM_002979.5(SCP2):c.825+1G>T6342SCP2Likely pathogenicrs144132787RCV000578448|RCV001860007; NMONDO:MONDO:0013391,MedGen:C3150990,OMIM:613724, Orphanet:163684|MedGen:CN51720215344404053444040GT1:g.53444040G>TClinGen:CA857229C3150990 613724 Leukoencephalopathy with dystonia and motor neuropathy;
NM_002979.5(SCP2):c.886C>T (p.Pro296Ser)6342SCP2Uncertain significancers1342599570RCV001254819; NMONDO:MONDO:0013391,MedGen:C3150990,OMIM:613724, Orphanet:16368415344612853446128CT1:g.53446128C>T-
NM_002979.5(SCP2):c.1111C>T (p.Gln371Ter)6342SCP2Pathogenicrs369561869RCV001336527|RCV001871890; NMONDO:MONDO:0013391,MedGen:C3150990,OMIM:613724, Orphanet:163684|MedGen:CN51720215348059153480591CT53480591-
NM_002979.5(SCP2):c.1234A>G (p.Ser412Gly)6342SCP2Uncertain significancers201094447RCV000729872|RCV001788340; NMedGen:CN517202|MONDO:MONDO:0013391,MedGen:C3150990,OMIM:613724, Orphanet:16368415348071453480714AGNC_000001.10:g.53480714A>G-
MSeqDR Portal