MSeqDR Mitochondrial Disease Portal


 
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Disease Browser
Parent Node:
expandSpastic Paraplegia, Hereditary (D015419)
..Starting node
..expandSPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE (OMIM:615491)

       Child Nodes:



 Sister Nodes: 
..expandAmyotrophic Dystonic Paraplegia (C566292)
..expandArena syndrome (C537428)
..expandAtaxia, Spastic, 1, Autosomal Dominant (C566993)
..expandAtaxia, Spastic, 2, Autosomal Recessive (C566969)
..expandAtaxia, Spastic, 3, Autosomal Recessive (C566956)
..expandBahemuka Brown syndrome (C537797)
..expandCosteff optic atrophy syndrome (C535311)  LSDB  L: 00496;
..expandFitzsimmons Walson Mellor syndrome (C537937)
..expandFitzsimmons-Guilbert syndrome (C537938)
..expandFitzsimmons-McLachlan-Gilbert syndrome (C537058)
..expandHereditary spastic paralysis, infantile onset ascending (C537217)
..expandLeukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia (C567311)
..expandLimb Defects, Distal Transverse, with Mental Retardation and Spasticity (C565438)
..expandMASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome (C536029)
..expandMAST Syndrome (C565409)
..expandMental retardation spasticity ectrodactyly (C537446)
..expandNakamura Osame syndrome (C538335)
..expandRoy Maroteaux Kremp syndrome (C535875)
..expandSpastic diplegia infantile type (C537481)
..expandSpastic paraplegia 10, autosomal dominant (C537482)
..expandSpastic paraplegia 11, autosomal recessive (C537483)
..expandSpastic paraplegia 12, autosomal dominant (C537484)
..expandSpastic paraplegia 13, autosomal dominant (C537485)
..expandSpastic paraplegia 14, autosomal recessive (C537486)
..expandSpastic paraplegia 15, autosomal recessive (C536642)
..expandSpastic paraplegia 16, X-linked (C536643)
..expandSpastic paraplegia 17 (C536644)
..expandSpastic Paraplegia 18, Autosomal Recessive (C567628)
..expandSpastic paraplegia 19, autosomal dominant (C536856)
..expandSpastic paraplegia 2, X-linked (C536857)
..expandSpastic paraplegia 20, autosomal recessive (C536858)
..expandSpastic paraplegia 23 (C536859)
..expandSpastic paraplegia 24 (C536860)
..expandSpastic paraplegia 25, autosomal recessive (C536861)
..expandSpastic paraplegia 26, autosomal recessive (C536862)
..expandSpastic Paraplegia 27, Autosomal Recessive (C563807)
..expandSpastic paraplegia 29, autosomal dominant (C536863)
..expandSpastic paraplegia 3, autosomal dominant (C536864)
..expandSpastic Paraplegia 31, Autosomal Dominant (C565210)
..expandSpastic Paraplegia 32, Autosomal Recessive (C566983)
..expandSpastic Paraplegia 33, Autosomal Dominant (C565214)
..expandSpastic Paraplegia 34, X-Linked (C567465)
..expandSPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE (OMIM:612319)
..expandSpastic Paraplegia 36, Autosomal Dominant (C567930)
..expandSpastic Paraplegia 37, Autosomal Dominant (C567931)
..expandSpastic Paraplegia 38, Autosomal Dominant (C567349)
..expandSpastic Paraplegia 39, Autosomal Recessive (C567433)
..expandSpastic paraplegia 4, autosomal dominant (C536865)
..expandSPASTIC PARAPLEGIA 41, AUTOSOMAL DOMINANT (OMIM:613364)
..expandSpastic Paraplegia 42, Autosomal Dominant (C567262)
..expandSPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE (OMIM:615043)
..expandSpastic Paraplegia 44, Autosomal Recessive (C567707)
..expandSPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE (OMIM:613162)
..expandSPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE (OMIM:614409)
..expandSPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE (OMIM:614066)
..expandSPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE (OMIM:613647)
..expandSPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE (OMIM:615031)
..expandSPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE (OMIM:613744)
..expandSPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE (OMIM:614067)
..expandSPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE (OMIM:614898)
..expandSPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE (OMIM:615033)
..expandSPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE (OMIM:615030)
..expandSPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE (OMIM:615658)
..expandSpastic Paraplegia 5a, Autosomal Recessive (C564811)
..expandSpastic paraplegia 6, autosomal dominant (C536866)
..expandSPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE (OMIM:615685)
..expandSPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE (OMIM:615681)
..expandSPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE (OMIM:615686)
..expandSPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE (OMIM:615683)
..expandSpastic Paraplegia 7, Autosomal Recessive (C564599)  LSDB  L: 00497;
..expandSPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE (OMIM:615625)
..expandSPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT (OMIM:616282)
..expandSPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE (OMIM:616451)
..expandSPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE (OMIM:616680)
..expandSPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE (OMIM:616907)
..expandSPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE (OMIM:617046)
..expandSPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE (OMIM:617225)
..expandSPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE (OMIM:615491)
..expandSpastic paraplegia 9, autosomal dominant (C536868)
..expandSPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE (OMIM:616586)
..expandSpastic Paraplegia And Evans Syndrome (C566652)
..expandSpastic paraplegia epilepsy mental retardation (C536869)
..expandSpastic paraplegia neuropathy poikiloderma (C536870)
..expandSpastic Paraplegia Type 4 (C580456)
..expandSpastic paraplegia type 5A, recessive (C536871)
..expandSpastic paraplegia type 5B, recessive (C536872)
..expandSpastic Paraplegia Type 7 (C580457)
..expandSpastic Paraplegia Type 8 (C580458)
..expandSpastic Paraplegia With Associated Extrapyramidal Signs (C566681)
..expandSpastic paraplegia with Kallmann syndrome (C536873)
..expandSpastic Paraplegia With Myoclonic Epilepsy (C564810)
..expandSpastic paraplegia with precocious puberty (C536874)
..expandSpastic Paraplegia, Optic Atrophy, And Dementia (C566679)
..expandSpastic Paraplegia, Optic Atrophy, Microcephaly, And Xy Sex Reversal (C566409)
..expandSpastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy (C566682)
..expandSpastic Paraplegia-50, Autosomal Recessive (C567858)
..expandVolcke Soekarman syndrome (C537718)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:11428
Name:SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE
Definition:
Alternative IDs:
ParentIDs:MESH:D015419
TreeNumbers:C10.500.300.820/615491 |C10.574.500.495.820/615491 |C10.668.829.800.300.820/615491 |C16.131.666.300.820/615491 |C16.320.400.375.820/615491
Synonyms:NDGOA |NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD-ONSET |SPG79
Slim Mappings:Congenital abnormality|Genetic disease (inborn)|Nervous system disease
Reference: MedGen: 615491
MeSH: 615491
OMIM: 615491;
MSeqDR LSDB:  
Genes: UCHL1; UROC1;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0011448Ankle clonus
3 HP:0003487Babinski sign
4 HP:0001272Cerebellar atrophy
5 HP:0002059Cerebral atrophy
6 HP:0001310Dysmetria
7 HP:0002380Fasciculations
8 HP:0001371Flexion contracture
9 HP:0002599Head titubation
10 HP:0002080Intention tremorHP:0040283
11 HP:0002411Myokymia
12 HP:0000545Myopia
13 HP:0002486MyotoniaHP:0040283
14 HP:0002180Neurodegeneration
15 HP:0000639Nystagmus
16 HP:0000648Optic atrophy
17 HP:0001761Pes cavus
18 HP:0001763Pes planus
19 HP:0003676Progressive
20 HP:0000529Progressive visual loss
21 HP:0001258Spastic paraplegia
22 HP:0002273Tetraparesis
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_004181.5(UCHL1):c.20A>C (p.Glu7Ala)7345UCHL1Pathogenicrs397515634RCV000074332|RCV002514325; NMONDO:MONDO:0014209,MedGen:C3809665,OMIM:615491, Orphanet:352654|MedGen:CN517202441259013412590134:g.41259013A>CClinGen:CA145269,UniProtKB:P09936#VAR_070875,OMIM:191342.0003C3809665 615491 Spastic paraplegia 79, autosomal recessive;
NM_004181.5(UCHL1):c.53C>A (p.Ser18Tyr)7345UCHL1Benignrs5030732RCV000013092|RCV001711069|RCV002243640; NMONDO:MONDO:0013340,MedGen:C3150899,OMIM:613643, Orphanet:2828|MedGen:CN517202|MONDO:MONDO:0014209,MedGen:C3809665,OMIM:615491, Orphanet:352654441259633412596334:g.41259633C>AClinGen:CA256260,UniProtKB:P09936#VAR_015677,OMIM:191342.0002C3150899 613643 Parkinson disease 5;
NM_004181.5(UCHL1):c.175-4G>A7345UCHL1Likely benign-1RCV002091902|RCV002500142; NMedGen:CN517202|MONDO:MONDO:0014209,MedGen:C3809665,OMIM:615491, Orphanet:352654; MONDO:MONDO:0013340,MedGen:C3150899,OMIM:613643, Orphanet:28284412626604126266041262660-
NM_004181.5(UCHL1):c.250C>T (p.Gln84Ter)7345UCHL1Likely pathogenic-1RCV002272926; NMONDO:MONDO:0014209,MedGen:C3809665,OMIM:615491, Orphanet:3526544412627394126273941262739-
NM_004181.5(UCHL1):c.326-4dup7345UCHL1Benign-1RCV001579417|RCV001727905|RCV002225137; NMedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0014209,MedGen:C3809665,OMIM:615491, Orphanet:3526544412637184126371941263718-
NM_004181.5(UCHL1):c.326-4del7345UCHL1Benign/Likely benignrs3214812RCV000348738|RCV002057929|RCV002480217; NMedGen:CN239359|MedGen:CN517202|MONDO:MONDO:0014209,MedGen:C3809665,OMIM:615491, Orphanet:352654; MONDO:MONDO:0013340,MedGen:C3150899,OMIM:613643, Orphanet:282844126371941263719NC_000004.11:g.41263728delClinGen:CA2899984CN239359 Parkinson Disease, Dominant;
NM_004181.5(UCHL1):c.459+2T>C7345UCHL1Likely pathogenicrs1554004931RCV000625742; NMONDO:MONDO:0014209,MedGen:C3809665,OMIM:615491, Orphanet:352654441263942412639424:g.41263942T>CClinGen:CA356733066C3809665 615491 Spastic paraplegia 79, autosomal recessive;
NM_004181.5(UCHL1):c.533G>A (p.Arg178Gln)7345UCHL1Uncertain significancers768996179RCV000417182|RCV001146776; NMONDO:MONDO:0014209,MedGen:C3809665,OMIM:615491, Orphanet:352654|MONDO:MONDO:0013340,MedGen:C3150899,OMIM:613643, Orphanet:2828441266126412661264:g.41266126G>AClinGen:CA2900076,OMIM:191342.0004C3809665 615491 Spastic paraplegia 79, autosomal recessive;
NM_004181.5(UCHL1):c.609A>G (p.Glu203=)7345UCHL1Benign/Likely benignrs147661219RCV000399103|RCV000903118|RCV002502344; NMONDO:MONDO:0013340,MedGen:C3150899,OMIM:613643, Orphanet:2828|MedGen:CN517202|MONDO:MONDO:0014209,MedGen:C3809665,OMIM:615491, Orphanet:352654; MONDO:MONDO:0013340,MedGen:C3150899,OMIM:613643, Orphanet:2828441270027412700274:g.41270027A>GClinGen:CA2900112CN239359 Parkinson Disease, Dominant;
NM_004181.5(UCHL1):c.647C>A (p.Ala216Asp)7345UCHL1Pathogenicrs1057519600RCV000417145; NMONDO:MONDO:0014209,MedGen:C3809665,OMIM:615491, Orphanet:35265444127006541270065NC_000004.11:g.41270065C>AClinGen:CA16044410,OMIM:191342.0005C3809665 615491 Spastic paraplegia 79, autosomal recessive;
NM_004181.5(UCHL1):c.*250T>C7345UCHL1Uncertain significancers564857603RCV001147679|RCV002480543; NMONDO:MONDO:0013340,MedGen:C3150899,OMIM:613643, Orphanet:2828|MONDO:MONDO:0014209,MedGen:C3809665,OMIM:615491, Orphanet:352654; MONDO:MONDO:0013340,MedGen:C3150899,OMIM:613643, Orphanet:2828441270340412703404:g.41270340T>C-
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