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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 20, autosomal recessive (C536858)
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:

10368

Name:

Spastic paraplegia 20, autosomal recessive

Definition:

Alternative IDs:

OMIM:275900

ParentIDs:

MESH:D015419

TreeNumbers:

C10.500.300.820/C536858 |C10.574.500.495.820/C536858 |C10.668.829.800.300.820/C536858 |C16.131.666.300.820/C536858 |C16.320.400.375.820/C536858

Synonyms:

Cross-McKusick syndrome |Spastic paraparesis, childhood onset, with distal muscle wasting |Spastic Paraparesis, Childhood-Onset, With Distal Muscle Wasting |Spastic paraplegia, autosomal recessive, Troyer type |Spastic paraplegia with distal muscle wasting |S

Slim Mappings:

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

Reference:

MedGen: C536858
MeSH: C536858
OMIM: 275900;

Genes: SPG20;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0011463	Childhood onset
3	HP:0001317	Abnormal cerebellum morphology
4	HP:0011448	Ankle clonus
5	HP:0003487	Babinski sign
6	HP:0001156	Brachydactyly
7	HP:0012385	Camptodactyly
8	HP:0001272	Cerebellar atrophy
9	HP:0030084	Clinodactyly
10	HP:0002355	Difficulty walking
11	HP:0003693	Distal amyotrophy
12	HP:0002307	Drooling
13	HP:0001260	Dysarthria
14	HP:0001310	Dysmetria
15	HP:0000712	Emotional lability
16	HP:0001371	Flexion contracture
17	HP:0001263	Global developmental delay
18	HP:0001765	Hammertoe
19	HP:0005639	Hyperextensible hand joints
20	HP:0012371	Hyperplasia of midface
21	HP:0001347	Hyperreflexia
22	HP:0000316	Hypertelorism
23	HP:0001256	Intellectual disability, mild
24	HP:0011449	Knee clonus
25	HP:0002751	Kyphoscoliosis
26	HP:0007340	Lower limb muscle weakness
27	HP:0001270	Motor delay
28	HP:0001761	Pes cavus
29	HP:0001773	Short foot
30	HP:0004322	Short stature
31	HP:0002064	Spastic gait
32	HP:0002313	Spastic paraparesis
33	HP:0001258	Spastic paraplegia
34	HP:0006986	Upper limb spasticity

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
NC_000004.12:g.92060162_92335756del275595	-1	-	Uncertain significance	-1	RCV000114365;	N	MedGen:C0393559,OMIM:275900,ORPHA:101000,SNOMED CT:230264003	4	92981313	93256907	-	-		OMIM Allelic Variant:602368.0001	C0027832 101000 Neurofibromatosis, type 2; C0393559 275900 Troyer syndrome
NM_015087.4(SPG20):c.1172A>G (p.Asp391Gly)	23111	SPG20	Uncertain significance	148833652	RCV000197093;	N	MedGen:C0393559,OMIM:275900,ORPHA:101000,SNOMED CT:230264003	13	36900828	36900828	NM_015087.4:c.1172A>G	NP_055902.1:p.Asp391Gly	NC_000013.10:g.36900828T>C	-	C0027832 101000 Neurofibromatosis, type 2; C0393559 275900 Troyer syndrome
NM_015087.4(SPG20):c.720T>A (p.Ser240Arg)	23111	SPG20	Uncertain significance	780452995	RCV000167897;	N	MedGen:C0393559,OMIM:275900,ORPHA:101000,SNOMED CT:230264003	13	36909248	36909248	NM_015087.4:c.720T>A	NP_055902.1:p.Ser240Arg	NC_000013.10:g.36909248A>T	-	C0027832 101000 Neurofibromatosis, type 2; C0393559 275900 Troyer syndrome
NM_015087.4(SPG20):c.361G>T (p.Asp121Tyr)	23111	SPG20	Uncertain significance	146398746	RCV000198273;	N	MedGen:C0393559,OMIM:275900,ORPHA:101000,SNOMED CT:230264003	13	36909607	36909607	NM_015087.4:c.361G>T	NP_055902.1:p.Asp121Tyr	NC_000013.10:g.36909607C>A	-	C0027832 101000 Neurofibromatosis, type 2; C0393559 275900 Troyer syndrome
NM_015087.4(SPG20):c.75A>G (p.Leu25=)	23111	SPG20	Likely benign	148399669	RCV000196181;	N	MedGen:C0393559,OMIM:275900,ORPHA:101000,SNOMED CT:230264003	13	36909893	36909893	NM_015087.4:c.75A>G	NP_055902.1:p.Leu25=	NC_000013.10:g.36909893T>C	-	C0027832 101000 Neurofibromatosis, type 2; C0393559 275900 Troyer syndrome