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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 31, Autosomal Dominant (C565210)
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:

10379

Name:

Spastic Paraplegia 31, Autosomal Dominant

Definition:

Alternative IDs:

OMIM:610250

ParentIDs:

MESH:D015419

TreeNumbers:

C10.500.300.820/C565210 |C10.574.500.495.820/C565210 |C10.668.829.800.300.820/C565210 |C16.131.666.300.820/C565210 |C16.320.400.375.820/C565210

Synonyms:

SPG31

Slim Mappings:

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

Reference:

MedGen: C565210
MeSH: C565210
OMIM: 610250;

Genes: REEP1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0011448	Ankle clonus
3	HP:0003487	Babinski sign
4	HP:0002936	Distal sensory impairment
5	HP:0001260	Dysarthria
6	HP:0002015	Dysphagia	HP:0040283
7	HP:0007340	Lower limb muscle weakness
8	HP:0001761	Pes cavus	HP:0040283
9	HP:0003202	Skeletal muscle atrophy
10	HP:0002064	Spastic gait
11	HP:0001258	Spastic paraplegia
12	HP:0000012	Urinary urgency	HP:0040283
13	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_022912.2(REEP1):c.*43G>T	65055	REEP1	Pathogenic;Uncertain significance	377637314	RCV000001938; RCV000200803;	N	MedGen:C1853247,OMIM:610250,ORPHA:101011; MedGen:CN169374	2	86444180	86444180	NM_022912.2:c.*43G>T			OMIM Allelic Variant:609139.0003	CN169374 not specified; C1853247 610250 Spastic paraplegia 31, autosomal dominant
NM_022912.2(REEP1):c.595+1G>A	65055	REEP1	Pathogenic	869312880	RCV000210477;	N	MedGen:C1853247,OMIM:610250,ORPHA:101011	2	86459747	86459747	NM_022912.2:c.595+1G>A		NC_000002.11:g.86459747C>T	-	C1853247 610250 Spastic paraplegia 31, autosomal dominant
NM_001164730.1(REEP1):c.533delC (p.Pro178Hisfs)	65055	REEP1	Pathogenic	387906263	RCV000001936;	N	MedGen:C1853247,OMIM:610250,ORPHA:101011	2	86459831	86459831	NM_001164730.1:c.533delC	NP_001158202.1:p.Pro178Hisfs	NC_000002.11:g.86459831delG	OMIM Allelic Variant:609139.0001	C1853247 610250 Spastic paraplegia 31, autosomal dominant
NM_022912.2(REEP1):c.486C>T (p.Asp162=)	65055	REEP1	Benign	139806812	RCV000203687;	N	MedGen:C1853247,OMIM:610250,ORPHA:101011	2	86459857	86459857	NM_022912.2:c.486C>T	NP_075063.1:p.Asp162=	NC_000002.11:g.86459857G>A	-	C1853247 610250 Spastic paraplegia 31, autosomal dominant
NM_022912.2(REEP1):c.424G>C (p.Gly142Arg)	65055	REEP1	Uncertain significance	864622642	RCV000204692;	N	MedGen:C1853247,OMIM:610250,ORPHA:101011	2	86459919	86459919	NM_022912.2:c.424G>C	NP_075063.1:p.Gly142Arg	NC_000002.11:g.86459919C>G	-	C1853247 610250 Spastic paraplegia 31, autosomal dominant
NM_022912.2(REEP1):c.415A>T (p.Lys139Ter)	65055	REEP1	Pathogenic	786204081	RCV000167976;	N	MedGen:C1853247,OMIM:610250,ORPHA:101011	2	86479082	86479082	NM_022912.2:c.415A>T	NP_075063.1:p.Lys139Ter	NC_000002.11:g.86479082T>A	-	C1853247 610250 Spastic paraplegia 31, autosomal dominant
NM_022912.2(REEP1):c.396G>A (p.Ala132=)	65055	REEP1	Uncertain significance	377712421	RCV000197628;	N	MedGen:C1853247,OMIM:610250,ORPHA:101011	2	86479101	86479101	NM_022912.2:c.396G>A	NP_075063.1:p.Ala132=	NC_000002.11:g.86479101C>T	-	C1853247 610250 Spastic paraplegia 31, autosomal dominant
NM_001164730.1(REEP1):c.358C>T (p.Arg120Ter)	65055	REEP1	Pathogenic	121918263	RCV000001940;	N	MedGen:C1853247,OMIM:610250,ORPHA:101011	2	86479160	86479160	NM_001164730.1:c.358C>T	NP_001158202.1:p.Arg120Ter	NC_000002.11:g.86479160G>A	OMIM Allelic Variant:609139.0005	C1853247 610250 Spastic paraplegia 31, autosomal dominant
NM_022912.2(REEP1):c.183-2A>G	65055	REEP1	Pathogenic	387906264	RCV000001937;	N	MedGen:C1853247,OMIM:610250,ORPHA:101011	2	86481939	86481939	NM_022912.2:c.183-2A>G		NC_000002.11:g.86481939T>C	OMIM Allelic Variant:609139.0002	C1853247 610250 Spastic paraplegia 31, autosomal dominant
NM_001164730.1(REEP1):c.80C>A (p.Ala27Glu)	65055	REEP1	Pathogenic	121918262	RCV000001939;	N	MedGen:C1853247,OMIM:610250,ORPHA:101011	2	86509339	86509339	NM_001164730.1:c.80C>A	NP_001158202.1:p.Ala27Glu	NC_000002.11:g.86509339G>T	OMIM Allelic Variant:609139.0004	C1853247 610250 Spastic paraplegia 31, autosomal dominant