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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 3, autosomal dominant (C536864)
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:

10388

Name:

Spastic paraplegia 3, autosomal dominant

Definition:

Alternative IDs:

OMIM:182600

ParentIDs:

MESH:D015419

TreeNumbers:

C10.500.300.820/C536864 |C10.574.500.495.820/C536864 |C10.668.829.800.300.820/C536864 |C16.131.666.300.820/C536864 |C16.320.400.375.820/C536864

Synonyms:

Familial spastic paraplegia, autosomal dominant, 1 |FSP1 |SPG3 |SPG3A |Strumpell disease

Slim Mappings:

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

Reference:

MedGen: C536864
MeSH: C536864
OMIM: 182600;

Genes: ATL1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003587	Insidious onset
3	HP:0003487	Babinski sign
4	HP:0002314	Degeneration of the lateral corticospinal tracts
5	HP:0008944	Distal lower limb amyotrophy
6	HP:0001425	Heterogeneous
7	HP:0001347	Hyperreflexia
8	HP:0002079	Hypoplasia of the corpus callosum	HP:0040283
9	HP:0002166	Impaired vibration sensation in the lower limbs
10	HP:0003829	Incomplete penetrance
11	HP:0001256	Intellectual disability, mild	HP:0040283
12	HP:0007340	Lower limb muscle weakness
13	HP:0001270	Motor delay
14	HP:0010550	Paraplegia
15	HP:0001761	Pes cavus
16	HP:0002650	Scoliosis
17	HP:0002064	Spastic gait
18	HP:0001258	Spastic paraplegia
19	HP:0002839	Urinary bladder sphincter dysfunction
20	HP:0000020	Urinary incontinence
21	HP:0000012	Urinary urgency
22	HP:0003828	Variable expressivity

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_015915.4(ATL1):c.84A>G (p.Pro28=)	51062	ATL1	Benign;Likely benign	35014209	RCV000020724; RCV000116421;	N	MedGen:C2931355,OMIM:182600,ORPHA:100984; MedGen:CN169374	14	51054598	51054598	NM_015915.4:c.84A>G	NP_056999.2:p.Pro28=	NC_000014.8:g.51054598A>G	-	CN169374 not specified; C2931355 182600 Spastic paraplegia 3
NM_015915.4(ATL1):c.129C>G (p.Asp43Glu)	51062	ATL1	Benign	17850684	RCV000020719;	N	MedGen:C2931355,OMIM:182600,ORPHA:100984	14	51054643	51054643	NM_015915.4:c.129C>G	NP_056999.2:p.Asp43Glu	NC_000014.8:g.51054643C>G	-	C2931355 182600 Spastic paraplegia 3
NM_015915.4(ATL1):c.300T>G (p.Val100=)	51062	ATL1	Uncertain significance	863224772	RCV000199958;	N	MedGen:C2931355,OMIM:182600,ORPHA:100984	14	51057676	51057676	NM_015915.4:c.300T>G	NP_056999.2:p.Val100=	NC_000014.8:g.51057676T>G	-	C2931355 182600 Spastic paraplegia 3
NM_015915.4(ATL1):c.351G>A (p.Glu117=)	51062	ATL1	Benign;Likely benign	1060197	RCV000020720; RCV000116420;	N	MedGen:C2931355,OMIM:182600,ORPHA:100984; MedGen:CN169374	14	51057727	51057727	NM_015915.4:c.351G>A	NP_056999.2:p.Glu117=	NC_000014.8:g.51057727G>A	-	CN169374 not specified; C2931355 182600 Spastic paraplegia 3
NM_015915.4(ATL1):c.467C>T (p.Thr156Ile)	51062	ATL1	Pathogenic	137852657	RCV000020721;	N	MedGen:C2931355,OMIM:182600,ORPHA:100984	14	51058302	51058302	NM_015915.4:c.467C>T	NP_056999.2:p.Thr156Ile	NC_000014.8:g.51058302C>T	-	C2931355 182600 Spastic paraplegia 3
NM_001127713.1(ATL1):c.470T>G (p.Leu157Trp)	51062	ATL1	Pathogenic	119476051	RCV000004601;	N	MedGen:C2931355,OMIM:182600,ORPHA:100984	14	51058305	51058305	NM_001127713.1:c.470T>G	NP_001121185.1:p.Leu157Trp	NC_000014.8:g.51058305T>G	OMIM Allelic Variant:606439.0008	C2931355 182600 Spastic paraplegia 3
NM_015915.4(ATL1):c.578T>G (p.Phe193Cys)	51062	ATL1	Benign	17850683	RCV000020722;	N	MedGen:C2931355,OMIM:182600,ORPHA:100984	14	51062298	51062298	NM_015915.4:c.578T>G	NP_056999.2:p.Phe193Cys	NC_000014.8:g.51062298T>G	-	C2931355 182600 Spastic paraplegia 3
NM_001127713.1(ATL1):c.596T>A (p.Leu199Gln)	51062	ATL1	Pathogenic	797045004	RCV000190502;	N	MedGen:C2931355,OMIM:182600,ORPHA:100984	14	51062316	51062316	NM_001127713.1:c.596T>A	NP_001121185.1:p.Leu199Gln	NC_000014.8:g.51062316T>A	-	C2931355 182600 Spastic paraplegia 3
NM_015915.4(ATL1):c.621G>A (p.Lys207=)	51062	ATL1	Benign	35629585	RCV000020723;	N	MedGen:C2931355,OMIM:182600,ORPHA:100984	14	51062341	51062341	NM_015915.4:c.621G>A	NP_056999.2:p.Lys207=	NC_000014.8:g.51062341G>A	-	C2931355 182600 Spastic paraplegia 3
NM_001127713.1(ATL1):c.650G>A (p.Arg217Gln)	51062	ATL1	Pathogenic	119476049	RCV000004597;	N	MedGen:C2931355,OMIM:182600,ORPHA:100984	14	51079996	51079996	NM_001127713.1:c.650G>A	NP_001121185.1:p.Arg217Gln	NC_000014.8:g.51079996G>A	OMIM Allelic Variant:606439.0004	C2931355 182600 Spastic paraplegia 3
NM_015915.4(ATL1):c.715C>T (p.Arg239Cys)	51062	ATL1	Pathogenic	119476046	RCV000004594; RCV000215830;	N	MedGen:C2931355,OMIM:182600,ORPHA:100984; MedGen:CN221809	14	51080061	51080061	NM_015915.4:c.715C>T	NP_056999.2:p.Arg239Cys	NC_000014.8:g.51080061C>T	OMIM Allelic Variant:606439.0001	CN221809 not provided; C2931355 182600 Spastic paraplegia 3
NM_015915.4(ATL1):c.757G>A (p.Val253Ile)	51062	ATL1	Pathogenic	864622520	RCV000206078;	N	MedGen:C2931355,OMIM:182600,ORPHA:100984	14	51081124	51081124	NM_015915.4:c.757G>A	NP_056999.2:p.Val253Ile	NC_000014.8:g.51081124G>A	-	C2931355 182600 Spastic paraplegia 3
NM_015915.4(ATL1):c.773A>G (p.His258Arg)	51062	ATL1	Pathogenic	119476048	RCV000004596;	N	MedGen:C2931355,OMIM:182600,ORPHA:100984	14	51081140	51081140	NM_015915.4:c.773A>G	NP_056999.2:p.His258Arg	NC_000014.8:g.51081140A>G	OMIM Allelic Variant:606439.0003	C2931355 182600 Spastic paraplegia 3
NM_001127713.1(ATL1):c.776C>A (p.Ser259Tyr)	51062	ATL1	Pathogenic	119476047	RCV000004595;	N	MedGen:C2931355,OMIM:182600,ORPHA:100984	14	51081143	51081143	NM_001127713.1:c.776C>A	NP_001121185.1:p.Ser259Tyr	NC_000014.8:g.51081143C>A	OMIM Allelic Variant:606439.0002	C2931355 182600 Spastic paraplegia 3
NM_015915.4(ATL1):c.1193C>A (p.Ser398Tyr)	51062	ATL1	Likely pathogenic	864622083	RCV000203941;	N	MedGen:C2931355,OMIM:182600,ORPHA:100984	14	51094822	51094822	NM_015915.4:c.1193C>A	NP_056999.2:p.Ser398Tyr	NC_000014.8:g.51094822C>A	-	C2931355 182600 Spastic paraplegia 3
NM_015915.4(ATL1):c.1222A>G (p.Met408Val)	51062	ATL1	Pathogenic	28939094	RCV000004599;	N	MedGen:C2931355,OMIM:182600,ORPHA:100984	14	51094851	51094851	NM_015915.4:c.1222A>G	NP_056999.2:p.Met408Val	NC_000014.8:g.51094851A>G	OMIM Allelic Variant:606439.0006	C2931355 182600 Spastic paraplegia 3
NM_015915.4(ATL1):c.1243C>T (p.Arg415Trp)	51062	ATL1	Likely pathogenic;Pathogenic	119476050	RCV000004600; RCV000190652;	N	MedGen:C0950123; MedGen:C2931355,OMIM:182600,ORPHA:100984	14	51094872	51094872	NM_015915.4:c.1243C>T	NP_056999.2:p.Arg415Trp	NC_000014.8:g.51094872C>T	OMIM Allelic Variant:606439.0007	C0950123 Inborn genetic diseases; C2931355 182600 Spastic paraplegia 3
NM_001127713.1(ATL1):c.1244G>A (p.Arg415Gln)	51062	ATL1	Pathogenic	397514712	RCV000050231;	N	MedGen:C2931355,OMIM:182600,ORPHA:100984	14	51094873	51094873	NM_001127713.1:c.1244G>A	NP_001121185.1:p.Arg415Gln	NC_000014.8:g.51094873G>A	OMIM Allelic Variant:606439.0014	C2931355 182600 Spastic paraplegia 3
NM_001127713.1(ATL1):c.1246C>T (p.Arg416Cys)	51062	ATL1	Pathogenic	387906941	RCV000023545;	N	MedGen:C2931355,OMIM:182600,ORPHA:100984	14	51094875	51094875	NM_001127713.1:c.1246C>T	NP_001121185.1:p.Arg416Cys	NC_000014.8:g.51094875C>T	OMIM Allelic Variant:606439.0013	C2931355 182600 Spastic paraplegia 3
NM_015915.4(ATL1):c.1483C>T (p.Arg495Trp)	51062	ATL1	Pathogenic	864622269	RCV000203724;	N	MedGen:C2931355,OMIM:182600,ORPHA:100984	14	51095112	51095112	NM_015915.4:c.1483C>T	NP_056999.2:p.Arg495Trp	NC_000014.8:g.51095112C>T	-	C2931355 182600 Spastic paraplegia 3
NM_001127713.1(ATL1):c.1519dupA (Ile507Asnfs)	51062	ATL1	Pathogenic	863223314	RCV000020718;	N	MedGen:C2931355,OMIM:182600,ORPHA:100984	14	51095148	51095148	NM_015915.4:c.1519dupA	NP_056999.2:p.Ile507Asnfs	NC_000014.8:g.51095148dupA	-	C2931355 182600 Spastic paraplegia 3
NM_015915.4(ATL1):c.1641G>A (p.Ser547=)	51062	ATL1	Likely benign	761099386	RCV000196047;	N	MedGen:C2931355,OMIM:182600,ORPHA:100984	14	51099021	51099021	NM_015915.4:c.1641G>A	NP_056999.2:p.Ser547=	NC_000014.8:g.51099021G>A	-	C2931355 182600 Spastic paraplegia 3