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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

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Disease Browser
Parent Node: Genetic Diseases, X-Linked (D040181)
Parent Node: Spastic Paraplegia, Hereditary (D015419)
..Starting node ..Spastic paraplegia 2, X-linked (C536857)
Child Nodes:
Sister Nodes:
..Amyotrophic Dystonic Paraplegia (C566292)
..Arena syndrome (C537428)
..Ataxia, Spastic, 1, Autosomal Dominant (C566993)
..Ataxia, Spastic, 2, Autosomal Recessive (C566969)
..Ataxia, Spastic, 3, Autosomal Recessive (C566956)
..Bahemuka Brown syndrome (C537797)
..Costeff optic atrophy syndrome (C535311)
..Fitzsimmons Walson Mellor syndrome (C537937)
..Fitzsimmons-Guilbert syndrome (C537938)
..Fitzsimmons-McLachlan-Gilbert syndrome (C537058)
..Hereditary spastic paralysis, infantile onset ascending (C537217)
..Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia (C567311)
..Limb Defects, Distal Transverse, with Mental Retardation and Spasticity (C565438)
..MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome (C536029)
..MAST Syndrome (C565409)
..Mental retardation spasticity ectrodactyly (C537446)
..Nakamura Osame syndrome (C538335)
..Roy Maroteaux Kremp syndrome (C535875)
..Spastic diplegia infantile type (C537481)
..Spastic paraplegia 10, autosomal dominant (C537482)
..Spastic paraplegia 11, autosomal recessive (C537483)
..Spastic paraplegia 12, autosomal dominant (C537484)
..Spastic paraplegia 13, autosomal dominant (C537485)
..Spastic paraplegia 14, autosomal recessive (C537486)
..Spastic paraplegia 15, autosomal recessive (C536642)
..Spastic paraplegia 16, X-linked (C536643)
..Spastic paraplegia 17 (C536644)
..Spastic Paraplegia 18, Autosomal Recessive (C567628)
..Spastic paraplegia 19, autosomal dominant (C536856)
..Spastic paraplegia 2, X-linked (C536857)
..Spastic paraplegia 20, autosomal recessive (C536858)
..Spastic paraplegia 23 (C536859)
..Spastic paraplegia 24 (C536860)
..Spastic paraplegia 25, autosomal recessive (C536861)
..Spastic paraplegia 26, autosomal recessive (C536862)
..Spastic Paraplegia 27, Autosomal Recessive (C563807)
..Spastic paraplegia 29, autosomal dominant (C536863)
..Spastic paraplegia 3, autosomal dominant (C536864)
..Spastic Paraplegia 31, Autosomal Dominant (C565210)
..Spastic Paraplegia 32, Autosomal Recessive (C566983)
..Spastic Paraplegia 33, Autosomal Dominant (C565214)
..Spastic Paraplegia 34, X-Linked (C567465)
..SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE (OMIM:612319)
..Spastic Paraplegia 36, Autosomal Dominant (C567930)
..Spastic Paraplegia 37, Autosomal Dominant (C567931)
..Spastic Paraplegia 38, Autosomal Dominant (C567349)
..Spastic Paraplegia 39, Autosomal Recessive (C567433)
..Spastic paraplegia 4, autosomal dominant (C536865)
..SPASTIC PARAPLEGIA 41, AUTOSOMAL DOMINANT (OMIM:613364)
..Spastic Paraplegia 42, Autosomal Dominant (C567262)
..Spastic Paraplegia 44, Autosomal Recessive (C567707)
..SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE (OMIM:613162)
..SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE (OMIM:613647)
..SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE (OMIM:615031)
..Spastic Paraplegia 5a, Autosomal Recessive (C564811)
..Spastic paraplegia 6, autosomal dominant (C536866)
..Spastic Paraplegia 7, Autosomal Recessive (C564599)
..Spastic paraplegia 8, autosomal dominant (C536867)
..Spastic paraplegia 9, autosomal dominant (C536868)
..Spastic Paraplegia And Evans Syndrome (C566652)
..Spastic paraplegia epilepsy mental retardation (C536869)
..Spastic paraplegia neuropathy poikiloderma (C536870)
..Spastic Paraplegia Type 11 (C580453)
..Spastic Paraplegia Type 3a (C580455)
..Spastic Paraplegia Type 4 (C580456)
..Spastic paraplegia type 5A, recessive (C536871)
..Spastic paraplegia type 5B, recessive (C536872)
..Spastic Paraplegia Type 7 (C580457)
..Spastic Paraplegia Type 8 (C580458)
..Spastic Paraplegia With Associated Extrapyramidal Signs (C566681)
..Spastic paraplegia with Kallmann syndrome (C536873)
..Spastic Paraplegia With Myoclonic Epilepsy (C564810)
..Spastic paraplegia with precocious puberty (C536874)
..Spastic Paraplegia, Optic Atrophy, And Dementia (C566679)
..Spastic Paraplegia, Optic Atrophy, Microcephaly, And Xy Sex Reversal (C566409)
..Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy (C566682)
..Spastic Paraplegia-50, Autosomal Recessive (C567858)
..Volcke Soekarman syndrome (C537718)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

10377

Name:

Spastic paraplegia 2, X-linked

Definition:

Alternative IDs:

OMIM:312920

ParentIDs:

MESH:D015419|MESH:D040181

TreeNumbers:

C10.500.300.820/C536857 |C10.574.500.495.820/C536857 |C10.668.829.800.300.820/C536857 |C16.131.666.300.820/C536857 |C16.320.322/C536857 |C16.320.400.375.820/C536857

Synonyms:

SPG2 |SPPX2

Slim Mappings:

Congenital abnormality|Genetic disease (inborn)|Nervous system disease

Reference:

MedGen: C536857
MeSH: C536857
OMIM: 312920;

Genes: PLP1;

Phenotypes

1	HP:0001419	X-linked recessive inheritance
2	HP:0003621	Juvenile onset
3	HP:0003487	Babinski sign
4	HP:0002314	Degeneration of the lateral corticospinal tracts
5	HP:0001260	Dysarthria
6	HP:0001310	Dysmetria
7	HP:0001371	Flexion contracture
8	HP:0001347	Hyperreflexia
9	HP:0001249	Intellectual disability
10	HP:0007340	Lower limb muscle weakness
11	HP:0002061	Lower limb spasticity
12	HP:0000639	Nystagmus
13	HP:0000648	Optic atrophy
14	HP:0001761	Pes cavus
15	HP:0003812	Phenotypic variability
16	HP:0003202	Skeletal muscle atrophy
17	HP:0002064	Spastic gait
18	HP:0002313	Spastic paraparesis
19	HP:0001258	Spastic paraplegia
20	HP:0002503	Spinocerebellar tract degeneration

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_000533.4(PLP1):c.-31C>T	5354	PLP1	Benign	2233695	RCV000204678;	N	MedGen:C1839264,OMIM:312920,ORPHA:99015	X	103031893	103031893	NM_000533.4:c.-31C>T		NC_000023.10:g.103031893C>T	-	C1839264 312920 Spastic paraplegia 2
NM_000533.4(PLP1):c.2T>C (p.Met1Thr)	5354	PLP1	Pathogenic	864622194	RCV000203805;	N	MedGen:C1839264,OMIM:312920,ORPHA:99015	X	103031925	103031925	NM_000533.4:c.2T>C	NP_000524.3:p.Met1Thr	NC_000023.10:g.103031925T>C	-	C1839264 312920 Spastic paraplegia 2
NM_000533.4(PLP1):c.168A>G (p.Gln56=)	5354	PLP1	Benign	2233697	RCV000206003; RCV000117996;	N	MedGen:C1839264,OMIM:312920,ORPHA:99015; MedGen:CN169374	X	103040674	103040674	NM_000533.4:c.168A>G	NP_000524.3:p.Gln56=	NC_000023.10:g.103040674A>G	-	CN169374 not specified; C1839264 312920 Spastic paraplegia 2
NM_001128834.2(PLP1):c.409C>T (p.Arg137Trp)	5354	PLP1	Pathogenic	132630295	RCV000011847;	N	MedGen:C1839264,OMIM:312920,ORPHA:99015	X	103041611	103041611	NM_001128834.2:c.409C>T	NP_001122306.1:p.Arg137Trp	NC_000023.10:g.103041611C>T	OMIM Allelic Variant:300401.0026	C1839264 312920 Spastic paraplegia 2
NM_001128834.2(PLP1):c.418C>T (p.His140Tyr)	5354	PLP1	Pathogenic	132630287	RCV000011833;	N	MedGen:C1839264,OMIM:312920,ORPHA:99015	X	103041620	103041620	NM_001128834.2:c.418C>T	NP_001122306.1:p.His140Tyr	NC_000023.10:g.103041620C>T	OMIM Allelic Variant:300401.0012	C1839264 312920 Spastic paraplegia 2
NM_001128834.2(PLP1):c.509C>T (p.Ser170Phe)	5354	PLP1	Pathogenic	132630294	RCV000011841;	N	MedGen:C1839264,OMIM:312920,ORPHA:99015	X	103042782	103042782	NM_001128834.2:c.509C>T	NP_001122306.1:p.Ser170Phe	NC_000023.10:g.103042782C>T	OMIM Allelic Variant:300401.0020	C1839264 312920 Spastic paraplegia 2
NM_001128834.2(PLP1):c.560T>C (p.Ile187Thr)	5354	PLP1	Pathogenic	132630288	RCV000011834;	N	MedGen:C1839264,OMIM:312920,ORPHA:99015	X	103042833	103042833	NM_001128834.2:c.560T>C	NP_001122306.1:p.Ile187Thr	NC_000023.10:g.103042833T>C	OMIM Allelic Variant:300401.0013	C1839264 312920 Spastic paraplegia 2
NM_001128834.2(PLP1):c.710T>C (p.Phe237Ser)	5354	PLP1	Pathogenic	132630291	RCV000011838;	N	MedGen:C1839264,OMIM:312920,ORPHA:99015	X	103044275	103044275	NM_001128834.2:c.710T>C	NP_001122306.1:p.Phe237Ser	NC_000023.10:g.103044275T>C	OMIM Allelic Variant:300401.0017	C1839264 312920 Spastic paraplegia 2