MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Dystonia (D004421)
Parent Node: Leukoencephalopathies (D056784)
Parent Node: Polyneuropathies (D011115)
..Starting node ..LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY (OMIM:613724)
Child Nodes:
Sister Nodes:
..46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy (C567773)
..Alcoholic Neuropathy (D020269)
..Aplasia of Extensor Muscles of Fingers, Unilateral, with Generalized Polyneuropathy (C565945)
..Ataxia and Polyneuropathy, Adult-Onset (C564020)
..Deafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease (C565120)
..Hereditary Sensory and Autonomic Neuropathies (D009477) 12
..Hereditary Sensory and Motor Neuropathy (D015417) 164 C:3
..Laryngeal Abductor Paralysis with Cerebellar Ataxia and Motor Neuropathy (C565252)
..LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY (OMIM:613724)
..Leukoencephalopathy with Dystonia and Motor Neuropathy, SCPx-Deficient (C566654)
..Neuropathy, Hereditary Sensory, Atypical (C564946)
..Optic atrophy polyneuropathy deafness (C537129)
..Paraneoplastic Polyneuropathy (D020364)
..Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease (C563789)
..POEMS Syndrome (D016878)
..Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract (C567203)
..Polyradiculoneuropathy (D011129) 18
..Ribose 5-Phosphate Isomerase Deficiency (C563212)
..Severe infantile axonal neuropathy (C537593)
..Tangier Disease (D013631)
..THIAMINE 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 :
Genes: SCP2;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0002450	Abnormal motor neuron morphology
3	HP:0000570	Abnormality of saccadic eye movements
4	HP:0010663	Abnormality of thalamus morphology
5	HP:0000027	Azoospermia
6	HP:0002346	Head tremor
7	HP:0000815	Hypergonadotropic hypogonadism
8	HP:0004409	Hyposmia
9	HP:0002080	Intention tremor
10	HP:0002352	Leukoencephalopathy
11	HP:0009830	Peripheral neuropathy
12	HP:0000473	Torticollis

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_002979.5(SCP2):c.70-47del	6342	SCP2	Benign	rs143386725	RCV000986321\|RCV001541801;	N	MONDO:MONDO:0013391,MedGen:C3150990,OMIM:613724, Orphanet:163684\|MedGen:CN517202	1	53407407	53407407	CA	C	1:g.53407407_53407407del	-
NM_002979.5(SCP2):c.550dup (p.Ile184fs)	6342	SCP2	Pathogenic	rs1572119109	RCV000013658;	N	MONDO:MONDO:0013391,MedGen:C3150990,OMIM:613724, Orphanet:163684	1	53440462	53440463	C	CA	1:g.53440462_53440463insA	OMIM:184755.0001	C3150990 613724 Leukoencephalopathy with dystonia and motor neuropathy;
NM_002979.5(SCP2):c.572A>G (p.His191Arg)	6342	SCP2	Uncertain significance	-1	RCV001358209\|RCV001871949;	N	MONDO:MONDO:0013391,MedGen:C3150990,OMIM:613724, Orphanet:163684\|MedGen:CN517202	1	53440489	53440489	A	G	53440489	-
NM_002979.5(SCP2):c.825G>T (p.Met275Ile)	6342	SCP2	not provided	rs1557580517	RCV000709777;	N	MONDO:MONDO:0013391,MedGen:C3150990,OMIM:613724, Orphanet:163684	1	53444039	53444039	G	T	NC_000001.10:g.53444039G>T	-
NM_002979.5(SCP2):c.825+1G>T	6342	SCP2	Likely pathogenic	rs144132787	RCV000578448\|RCV001860007;	N	MONDO:MONDO:0013391,MedGen:C3150990,OMIM:613724, Orphanet:163684\|MedGen:CN517202	1	53444040	53444040	G	T	1:g.53444040G>T	ClinGen:CA857229	C3150990 613724 Leukoencephalopathy with dystonia and motor neuropathy;
NM_002979.5(SCP2):c.886C>T (p.Pro296Ser)	6342	SCP2	Uncertain significance	rs1342599570	RCV001254819;	N	MONDO:MONDO:0013391,MedGen:C3150990,OMIM:613724, Orphanet:163684	1	53446128	53446128	C	T	1:g.53446128C>T	-
NM_002979.5(SCP2):c.1111C>T (p.Gln371Ter)	6342	SCP2	Pathogenic	rs369561869	RCV001336527\|RCV001871890;	N	MONDO:MONDO:0013391,MedGen:C3150990,OMIM:613724, Orphanet:163684\|MedGen:CN517202	1	53480591	53480591	C	T	53480591	-
NM_002979.5(SCP2):c.1234A>G (p.Ser412Gly)	6342	SCP2	Uncertain significance	rs201094447	RCV000729872\|RCV001788340;	N	MedGen:CN517202\|MONDO:MONDO:0013391,MedGen:C3150990,OMIM:613724, Orphanet:163684	1	53480714	53480714	A	G	NC_000001.10:g.53480714A>G	-

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