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Disease Browser
Parent Node:
expandSpastic Paraplegia, Hereditary (D015419)
..Starting node
..expandSpastic paraplegia 26, autosomal recessive (C536862)

       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)
..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 44, Autosomal Recessive (C567707)
..expandSPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE (OMIM:613162)
..expandSPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE (OMIM:613647)
..expandSPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE (OMIM:615031)
..expandSpastic Paraplegia 5a, Autosomal Recessive (C564811)
..expandSpastic paraplegia 6, autosomal dominant (C536866)
..expandSpastic Paraplegia 7, Autosomal Recessive (C564599)
..expandSpastic paraplegia 8, autosomal dominant (C536867)
..expandSpastic paraplegia 9, autosomal dominant (C536868)
..expandSpastic Paraplegia And Evans Syndrome (C566652)
..expandSpastic paraplegia epilepsy mental retardation (C536869)
..expandSpastic paraplegia neuropathy poikiloderma (C536870)
..expandSpastic Paraplegia Type 11 (C580453)
..expandSpastic Paraplegia Type 3a (C580455)
..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, CTD
Term ID:10373
Name:Spastic paraplegia 26, autosomal recessive
Definition:
Alternative IDs:OMIM:609195
ParentIDs:MESH:D015419
TreeNumbers:C10.500.300.820/C536862 |C10.574.500.495.820/C536862 |C10.668.829.800.300.820/C536862 |C16.131.666.300.820/C536862 |C16.320.400.375.820/C536862
Synonyms:SPG26
Slim Mappings:Congenital abnormality|Genetic disease (inborn)|Nervous system disease
Reference: MedGen: C536862
MeSH: C536862
OMIM: 609195;

Genes: AF8T; B4GALNT1;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003487Babinski sign
3 HP:0000518CataractHP:0040283
4 HP:0002120Cerebral cortical atrophy
5 HP:0040171Decreased serum testosterone concentrationHP:0040283
6 HP:0002355Difficulty walking
7 HP:0003693Distal amyotrophy
8 HP:0001260Dysarthria
9 HP:0100660Dyskinesia
10 HP:0001310Dysmetria
11 HP:0001332Dystonia
12 HP:0000712Emotional lability
13 HP:0002359Frequent falls
14 HP:0001347Hyperreflexia
15 HP:0001265Hyporeflexia
16 HP:0001256Intellectual disability, mild
17 HP:0002061Lower limb spasticity
18 HP:0000639NystagmusHP:0040283
19 HP:0001761Pes cavus
20 HP:0003676Progressive
21 HP:0002650Scoliosis
22 HP:0003677Slowly progressive
23 HP:0002064Spastic gait
24 HP:0001258Spastic paraplegia
25 HP:0040083Toe walking
26 HP:0000012Urinary urgencyHP:0040283
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_001478.4(B4GALNT1):c.682C>T (p.Arg228Ter)2583B4GALNT1Pathogenic398122382RCV000054420; NMedGen:C1836632,OMIM:609195,ORPHA:101006125802396558023965NM_001478.4:c.682C>TNP_001469.1:p.Arg228TerNC_000012.11:g.58023965G>AOMIM Allelic Variant:601873.0002C1836632 609195 Spastic paraplegia 26