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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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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Spastic Paraplegia, Hereditary (D015419)
..Starting node ..Spastic Paraplegia 7, Autosomal Recessive (C564599)
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:

10399

Name:

Spastic Paraplegia 7, Autosomal Recessive

Definition:

Alternative IDs:

OMIM:607259

ParentIDs:

MESH:D015419

TreeNumbers:

C10.500.300.820/C564599 |C10.574.500.495.820/C564599 |C10.668.829.800.300.820/C564599 |C16.131.666.300.820/C564599 |C16.320.400.375.820/C564599

Synonyms:

SPG7

Slim Mappings:

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

Reference:

MedGen: C564599
MeSH: C564599
OMIM: 607259;

Genes: SPG7;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000007	Autosomal recessive inheritance
3	HP:0003581	Adult onset
4	HP:0003487	Babinski sign
5	HP:0001272	Cerebellar atrophy
6	HP:0002120	Cerebral cortical atrophy
7	HP:0002314	Degeneration of the lateral corticospinal tracts
8	HP:0001260	Dysarthria
9	HP:0002015	Dysphagia
10	HP:0002066	Gait ataxia
11	HP:0001347	Hyperreflexia
12	HP:0002166	Impaired vibration sensation in the lower limbs
13	HP:0007340	Lower limb muscle weakness
14	HP:0002061	Lower limb spasticity
15	HP:0002354	Memory impairment
16	HP:0000639	Nystagmus
17	HP:0000648	Optic atrophy
18	HP:0001761	Pes cavus
19	HP:0002650	Scoliosis
20	HP:0002064	Spastic gait
21	HP:0001258	Spastic paraplegia
22	HP:0002839	Urinary bladder sphincter dysfunction
23	HP:0000020	Urinary incontinence
24	HP:0000012	Urinary urgency

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_003119.3(SPG7):c.1A>G (p.Met1Val)	6687	SPG7	Likely pathogenic	794726906	RCV000173302;	N	MedGen:C1846564,OMIM:607259	16	89574826	89574826	NM_003119.3:c.1A>G	NP_003110.1:p.Met1Val	NC_000016.9:g.89574826A>G	-	C1846564 607259 Spastic paraplegia 7
NM_003119.3(SPG7):c.233T>A (p.Leu78Ter)	6687	SPG7	Pathogenic	121918358	RCV000007218; RCV000200640;	N	MedGen:C1846564,OMIM:607259; MedGen:CN221809	16	89576947	89576947	NM_003119.3:c.233T>A	NP_003110.1:p.Leu78Ter	NC_000016.9:g.89576947T>A	OMIM Allelic Variant:602783.0007	CN221809 not provided; C1846564 607259 Spastic paraplegia 7
NM_003119.3(SPG7):c.618+3_618+60del	6687	SPG7	Benign	-1	RCV000199523;	N	MedGen:C1846564,OMIM:607259	16	89590658	89590715	NM_003119.3:c.618+3_618+60del			-	C1846564 607259 Spastic paraplegia 7
NM_003119.3(SPG7):c.656T>C (p.Ile219Thr)	6687	SPG7	Likely benign	114255772	RCV000205153;	N	MedGen:C1846564,OMIM:607259	16	89592774	89592774	NM_003119.3:c.656T>C	NP_003110.1:p.Ile219Thr	NC_000016.9:g.89592774T>C	-	C1846564 607259 Spastic paraplegia 7
NM_003119.3(SPG7):c.861dupT (p.Asn288Terfs)	6687	SPG7	Pathogenic	797046003	RCV000194085; RCV000199034;	N	MedGen:C1846564,OMIM:607259; MedGen:CN221809	16	89595987	89595987	NM_003119.3:c.861dupT	NP_003110.1:p.Asn288Terfs	NC_000016.9:g.89595987dupT	-	CN221809 not provided; C1846564 607259 Spastic paraplegia 7
NM_003119.3(SPG7):c.988-1G>A	6687	SPG7	Likely pathogenic	748309520	RCV000206709;	N	MedGen:C1846564,OMIM:607259	16	89598311	89598311	NM_003119.3:c.988-1G>A		NC_000016.9:g.89598311G>A	-	C1846564 607259 Spastic paraplegia 7
NM_003119.3(SPG7):c.1032C>T (p.Gly344=)	6687	SPG7	Benign	116319889	RCV000197972; RCV000128200;	N	MedGen:C1846564,OMIM:607259; MedGen:CN169374	16	89598356	89598356	NM_003119.3:c.1032C>T	NP_003110.1:p.Gly344=	NC_000016.9:g.89598356C>T	-	CN169374 not specified; C1846564 607259 Spastic paraplegia 7
NM_003119.3(SPG7):c.1045G>A (p.Gly349Ser)	6687	SPG7	Pathogenic	141659620	RCV000007221; RCV000198037;	N	MedGen:C1846564,OMIM:607259; MedGen:CN221809	16	89598369	89598369	NM_003119.3:c.1045G>A	NP_003110.1:p.Gly349Ser	NC_000016.9:g.89598369G>A	OMIM Allelic Variant:602783.0010	CN221809 not provided; C1846564 607259 Spastic paraplegia 7
NM_003119.3(SPG7):c.1408C>T (p.Arg470Ter)	6687	SPG7	Pathogenic	748555510	RCV000196592;	N	MedGen:C1846564,OMIM:607259	16	89611139	89611139	NM_003119.3:c.1408C>T	NP_003110.1:p.Arg470Ter	NC_000016.9:g.89611139C>T	-	C1846564 607259 Spastic paraplegia 7
NM_003119.3(SPG7):c.1457G>A (p.Arg486Gln)	6687	SPG7	Benign	111475461	RCV000205148; RCV000128202;	N	MedGen:C1846564,OMIM:607259; MedGen:CN169374	16	89613073	89613073	NM_003119.3:c.1457G>A	NP_003110.1:p.Arg486Gln	NC_000016.9:g.89613073G>A	-	CN169374 not specified; C1846564 607259 Spastic paraplegia 7
NM_003119.3(SPG7):c.1529C>T (p.Ala510Val)	6687	SPG7	Likely pathogenic;Pathogenic	61755320	RCV000034858; RCV000195683; RCV000198007;	N	MedGen:C1846564,OMIM:607259; MedGen:CN221809	16	89613145	89613145	NM_003119.3:c.1529C>T	NP_003110.1:p.Ala510Val	NC_000016.9:g.89613145C>T	OMIM Allelic Variant:602783.0012	CN221809 not provided; C1846564 607259 Spastic paraplegia 7
NM_003119.3(SPG7):c.1529C>T (p.Ala510Val)	6687	SPG7	Likely pathogenic;Pathogenic	61755320	RCV000034858; RCV000195683; RCV000198007;	N	MedGen:C1846564,OMIM:607259; MedGen:CN221809	16	89613145	89613145	NM_003119.3:c.1529C>T	NP_003110.1:p.Ala510Val	NC_000016.9:g.89613145C>T	OMIM Allelic Variant:602783.0012	CN221809 not provided; C1846564 607259 Spastic paraplegia 7
NM_003119.3(SPG7):c.1653C>T (p.Arg551=)	6687	SPG7	Benign	56031686	RCV000205215; RCV000196125;	N	MedGen:C1846564,OMIM:607259; MedGen:CN169374	16	89614511	89614511	NM_003119.3:c.1653C>T	NP_003110.1:p.Arg551=	NC_000016.9:g.89614511C>T	-	CN169374 not specified; C1846564 607259 Spastic paraplegia 7
NM_003119.3(SPG7):c.1672A>T (p.Lys558Ter)	6687	SPG7	Pathogenic	369227537	RCV000168257;	N	MedGen:C1846564,OMIM:607259	16	89616910	89616910	NM_003119.3:c.1672A>T	NP_003110.1:p.Lys558Ter	NC_000016.9:g.89616910A>T	-	C1846564 607259 Spastic paraplegia 7
NM_003119.3(SPG7):c.1729G>A (p.Gly577Ser)	6687	SPG7	Likely pathogenic	72547552	RCV000198892;	N	MedGen:C1846564,OMIM:607259	16	89616967	89616967	NM_003119.3:c.1729G>A	NP_003110.1:p.Gly577Ser	NC_000016.9:g.89616967G>A	-	C1846564 607259 Spastic paraplegia 7
NM_003119.3(SPG7):c.1749G>C (p.Trp583Cys)	6687	SPG7	Pathogenic	267607085	RCV000007222;	N	MedGen:C1846564,OMIM:607259	16	89616987	89616987	NM_003119.3:c.1749G>C	NP_003110.1:p.Trp583Cys	NC_000016.9:g.89616987G>C	OMIM Allelic Variant:602783.0011	C1846564 607259 Spastic paraplegia 7
NM_003119.3(SPG7):c.1904C>T (p.Ser635Leu)	6687	SPG7	Uncertain significance	864622507	RCV000206309;	N	MedGen:C1846564,OMIM:607259	16	89619511	89619511	NM_003119.3:c.1904C>T	NP_003110.1:p.Ser635Leu	NC_000016.9:g.89619511C>T	-	C1846564 607259 Spastic paraplegia 7
NM_003119.3(SPG7):c.1948G>A (p.Asp650Asn)	6687	SPG7	Uncertain significance	769602042	RCV000205405;	N	MedGen:C1846564,OMIM:607259	16	89620213	89620213	NM_003119.3:c.1948G>A	NP_003110.1:p.Asp650Asn	NC_000016.9:g.89620213G>A	-	C1846564 607259 Spastic paraplegia 7
NM_003119.3(SPG7):c.1996G>C (p.Gly666Arg)	6687	SPG7	Uncertain significance	752989523	RCV000200425;	N	MedGen:C1846564,OMIM:607259	16	89620261	89620261	NM_003119.3:c.1996G>C	NP_003110.1:p.Gly666Arg	NC_000016.9:g.89620261G>C	-	C1846564 607259 Spastic paraplegia 7
NM_003119.3(SPG7):c.2075G>C (p.Ser692Thr)	6687	SPG7	Pathogenic	121918357	RCV000007217;	N	MedGen:C1846564,OMIM:607259	16	89620340	89620340	NM_003119.3:c.2075G>C	NP_003110.1:p.Ser692Thr	NC_000016.9:g.89620340G>C	OMIM Allelic Variant:602783.0006	C1846564 607259 Spastic paraplegia 7
NM_003119.3(SPG7):c.2084T>C (p.Leu695Pro)	6687	SPG7	Uncertain significance	864622094	RCV000205117;	N	MedGen:C1846564,OMIM:607259	16	89620349	89620349	NM_003119.3:c.2084T>C	NP_003110.1:p.Leu695Pro	NC_000016.9:g.89620349T>C	-	C1846564 607259 Spastic paraplegia 7
NM_003119.3(SPG7):c.2120delTinsCCAAGTCTGTA (p.Val707Alafs)	6687	SPG7	Likely pathogenic	863224924	RCV000198007;	N	MedGen:C1846564,OMIM:607259	16	89620910	89620910	NM_003119.3:c.2120delTinsCCAAGTCTGTA	NP_003110.1:p.Val707Alafs	NC_000016.9:g.89620910delTinsCCAAGTCTGTA	-	CN221809 not provided; C1846564 607259 Spastic paraplegia 7
NM_003119.3(SPG7):c.2295C>T (p.Asp765=)	6687	SPG7	Benign	61747712	RCV000205836; RCV000128212;	N	MedGen:C1846564,OMIM:607259; MedGen:CN169374	16	89623408	89623408	NM_003119.3:c.2295C>T	NP_003110.1:p.Asp765=	NC_000016.9:g.89623408C>T	-	CN169374 not specified; C1846564 607259 Spastic paraplegia 7