SPG26
MCID: SPS116
MIFTS: 42

Spastic Paraplegia 26, Autosomal Recessive (SPG26)

Categories: Bone diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Spastic Paraplegia 26, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 26, Autosomal Recessive:

Name: Spastic Paraplegia 26, Autosomal Recessive 56 73 13 71
Spg26 56 12 58 73
Autosomal Recessive Spastic Paraplegia Type 26 12 58
Hereditary Spastic Paraplegia 26 12 15
Gm2 Synthase Deficiency 12 58
Paraplegia, Spastic, Autosomal Recessive, Type 26 39
Autosomal Recessive Spastic Paraplegia 26 12

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive spastic paraplegia type 26
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
slowly progressive disorder
onset in first or second decades of life


HPO:

31
spastic paraplegia 26, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110777
OMIM 56 609195
OMIM Phenotypic Series 56 PS303350
MeSH 43 D015419
ICD10 32 G11.4
MESH via Orphanet 44 C536862
ICD10 via Orphanet 33 G11.4
UMLS via Orphanet 72 C1836632
Orphanet 58 ORPHA101006
MedGen 41 C1836632
UMLS 71 C1836632

Summaries for Spastic Paraplegia 26, Autosomal Recessive

UniProtKB/Swiss-Prot : 73 Spastic paraplegia 26, autosomal recessive: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG26 is a complicated form characterized by onset in the first 2 decades of life of gait abnormalities due to lower limb spasticity and muscle weakness. Some patients have upper limb involvement. Additional features include intellectual disability, peripheral neuropathy, dysarthria, cerebellar signs, extrapyramidal signs, and cortical atrophy. The disorder is slowly progressive.

MalaCards based summary : Spastic Paraplegia 26, Autosomal Recessive, also known as spg26, is related to paraplegia and hereditary spastic paraplegia, and has symptoms including ataxia An important gene associated with Spastic Paraplegia 26, Autosomal Recessive is B4GALNT1 (Beta-1,4-N-Acetyl-Galactosaminyltransferase 1), and among its related pathways/superpathways is Glycosphingolipid biosynthesis - ganglio series. Affiliated tissues include cerebellum, skeletal muscle and eye, and related phenotypes are intellectual disability and hyperreflexia

Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the B4GALNT1 gene on chromosome 12q13.

OMIM : 56 SPG26 is an autosomal recessive form of complicated spastic paraplegia characterized by onset in the first 2 decades of life of gait abnormalities due to lower limb spasticity and muscle weakness. Some patients have upper limb involvement. Additional features include intellectual disability, peripheral neuropathy, dysarthria, cerebellar signs, extrapyramidal signs, and cortical atrophy. The disorder is slowly progressive (summary by Boukhris et al., 2013). For a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A (270800). (609195)

Related Diseases for Spastic Paraplegia 26, Autosomal Recessive

Diseases in the Spastic Paraplegia 3a family:

Spastic Paraplegia 3, Autosomal Dominant Spastic Paraplegia 4, Autosomal Dominant
Spastic Paraplegia 17, Autosomal Dominant Spastic Paraplegia 15, Autosomal Recessive
Spastic Paraplegia 23, Autosomal Recessive Spastic Paraplegia 5a, Autosomal Recessive
Spastic Paraplegia 20, Autosomal Recessive Spastic Paraplegia 6, Autosomal Dominant
Spastic Paraplegia 9a, Autosomal Dominant Spastic Paraplegia 8, Autosomal Dominant
Spastic Paraplegia 10, Autosomal Dominant Spastic Paraplegia 11, Autosomal Recessive
Spastic Paraplegia 12, Autosomal Dominant Spastic Paraplegia 14, Autosomal Recessive
Spastic Paraplegia 13, Autosomal Dominant Spastic Paraplegia 19, Autosomal Dominant
Spastic Paraplegia 7, Autosomal Recessive Spastic Paraplegia 24, Autosomal Recessive
Spastic Paraplegia 25, Autosomal Recessive Spastic Paraplegia 27, Autosomal Recessive
Spastic Paraplegia 26, Autosomal Recessive Spastic Paraplegia 28, Autosomal Recessive
Spastic Paraplegia 29, Autosomal Dominant Spastic Paraplegia 33, Autosomal Dominant
Spastic Paraplegia 31, Autosomal Dominant Spastic Paraplegia 30, Autosomal Recessive
Spastic Paraplegia 18, Autosomal Recessive Spastic Paraplegia 32, Autosomal Recessive
Spastic Paraplegia 37, Autosomal Dominant Spastic Paraplegia 39, Autosomal Recessive
Spastic Paraplegia 35, Autosomal Recessive Spastic Paraplegia 38, Autosomal Dominant
Spastic Paraplegia 42, Autosomal Dominant Spastic Paraplegia 50, Autosomal Recessive
Spastic Paraplegia 36, Autosomal Dominant Spastic Paraplegia 45, Autosomal Recessive
Spastic Paraplegia 44, Autosomal Recessive Spastic Paraplegia 41, Autosomal Dominant
Spastic Paraplegia 48, Autosomal Recessive Spastic Paraplegia 51, Autosomal Recessive
Spastic Paraplegia 47, Autosomal Recessive Spastic Paraplegia 52, Autosomal Recessive
Spastic Paraplegia 46, Autosomal Recessive Spastic Paraplegia 53, Autosomal Recessive
Spastic Paraplegia 56, Autosomal Recessive Spastic Paraplegia 49, Autosomal Recessive
Spastic Paraplegia 54, Autosomal Recessive Spastic Paraplegia 55, Autosomal Recessive
Spastic Paraplegia 43, Autosomal Recessive Spastic Paraplegia 79, Autosomal Recessive
Spastic Paraplegia 72, Autosomal Recessive Spastic Paraplegia 57, Autosomal Recessive
Spastic Paraplegia 62, Autosomal Recessive Spastic Paraplegia 64, Autosomal Recessive
Spastic Paraplegia 61, Autosomal Recessive Spastic Paraplegia 63, Autosomal Recessive
Spastic Paraplegia 73, Autosomal Dominant Spastic Paraplegia 74, Autosomal Recessive
Spastic Paraplegia 9b, Autosomal Recessive Spastic Paraplegia 75, Autosomal Recessive
Spastic Paraplegia 76, Autosomal Recessive Spastic Paraplegia 77, Autosomal Recessive
Spastic Paraplegia 78, Autosomal Recessive Spastic Paraplegia 80, Autosomal Dominant
Hereditary Spastic Paraplegia 23 Hereditary Spastic Paraplegia 51
Hereditary Spastic Paraplegia 72 Hereditary Spastic Paraplegia
Spastic Paraplegia 4 Spastic Paraplegia 8
Spastic Paraplegia 11 Spastic Paraplegia 10
Spastic Paraplegia 12 Spastic Paraplegia 13
Spastic Paraplegia 14 Spastic Paraplegia 15
Spastic Paraplegia 16 Spastic Paraplegia 17
Spastic Paraplegia 18 Spastic Paraplegia 19
Spastic Paraplegia 24 Spastic Paraplegia 25
Spastic Paraplegia 26 Spastic Paraplegia 29
Spastic Paraplegia 3 Spastic Paraplegia 32
Spastic Paraplegia 39 Spastic Paraplegia 47
Spastic Paraplegia 5a Spastic Paraplegia 5b
Spastic Paraplegia 6 Spastic Paraplegia 9
Spastic Paraplegia Type 49 Autosomal Recessive Spastic Paraplegia Type 60
Autosomal Recessive Spastic Paraplegia Type 59 Autosomal Recessive Spastic Paraplegia Type 69
Autosomal Recessive Spastic Paraplegia Type 70 Autosomal Recessive Spastic Paraplegia Type 71
Autosomal Recessive Spastic Paraplegia Type 66 Autosomal Recessive Spastic Paraplegia Type 67
Autosomal Dominant Spastic Paraplegia Type 9b

Diseases related to Spastic Paraplegia 26, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 71)
# Related Disease Score Top Affiliating Genes
1 paraplegia 26.3 ZFYVE26 WASHC5 SPG21 SPG11 SPAST SPART
2 hereditary spastic paraplegia 25.7 ZFYVE26 WASHC5 SPG21 SPG11 SPAST SPART
3 spastic paraplegia 26 11.6
4 spastic paraplegia 27, autosomal recessive 10.3 SPG21 SLC33A1
5 complex hereditary spastic paraplegia 10.3 SPG11 B4GALNT1
6 seizures, benign familial neonatal, 1 10.2
7 ataxia and polyneuropathy, adult-onset 10.2
8 spastic paraplegia 64, autosomal recessive 10.1 SPG21 SPG11
9 spastic paraplegia 41, autosomal dominant 10.1 SPG21 SPAST
10 spastic paraplegia 73, autosomal dominant 10.1 SPG21 GBA2
11 mast syndrome 10.1 SPG21 SPG11 SPART
12 spastic paraplegia 57, autosomal recessive 10.0 SPG11 REEP1
13 autosomal dominant non-syndromic intellectual disability 9 10.0 ZFYVE26 REEP1
14 spastic paraplegia 28, autosomal recessive 10.0 SPG11 REEP1 FA2H
15 hereditary spastic paraplegia 51 9.9 ZFYVE26 SPG11
16 spastic paraplegia 63, autosomal recessive 9.9 SPG21 SPG11 PGAP1
17 spastic paraplegia 13, autosomal dominant 9.9 SPAST SLC33A1 REEP1
18 charcot-marie-tooth disease, axonal, type 2r 9.9 ZFYVE26 SPG21
19 spinocerebellar ataxia, autosomal recessive 20 9.9 ZFYVE26 SPG11
20 spastic paraplegia 52, autosomal recessive 9.9 ZFYVE26 SPG21 SPG11
21 spastic paraplegia 49, autosomal recessive 9.8 ZFYVE26 SPG21 SPG11
22 spastic paraplegia 11, autosomal recessive 9.8 ZFYVE26 SPG21 SPG11
23 spastic paraplegia 55, autosomal recessive 9.8 ZFYVE26 SPG21 SPG11
24 neuropathy, hereditary sensory, type iic 9.8 SPG21 SPG11 REEP1 FA2H
25 spastic paraplegia 76, autosomal recessive 9.8 GBA2 FA2H
26 spastic paraparesis 9.7 SPG11 SPAST FA2H
27 spastic paraplegia 61, autosomal recessive 9.7 SPG21 SPAST REEP2 REEP1
28 parkinson disease 15, autosomal recessive early-onset 9.7 SPG11 FA2H
29 spastic paraplegia 32, autosomal recessive 9.7 ZFYVE26 SPG21 SPG11 SLC33A1
30 spastic paraplegia 56, autosomal recessive 9.7 SPG21 SPG11 GBA2 FA2H
31 amyotrophic lateral sclerosis type 5 9.6 ZFYVE26 SPG11 SPAST
32 aceruloplasminemia 9.6 SPG11 SLC33A1 GBA2 FA2H
33 spastic paraplegia 54, autosomal recessive 9.5 SPG21 SPG11 REEP1 GBA2 FA2H
34 charcot-marie-tooth disease, axonal, type 2t 9.5 ZFYVE26 SPG21 GBA2 FA2H
35 spasticity 9.4 WASHC5 SPAST REEP1
36 spastic paraplegia 77, autosomal recessive 9.4 ZFYVE26 SPG11 GBA2 FA2H
37 spastic paraplegia 50, autosomal recessive 9.4 ZFYVE26 WASHC5 SPG11
38 spastic paraplegia 34, x-linked 9.3 ZFYVE26 WASHC5 SPG21 SLC33A1
39 spastic paraplegia 29, autosomal dominant 9.3 ZFYVE26 WASHC5 SPG21 SLC33A1
40 spastic paraplegia 37, autosomal dominant 9.3 ZFYVE26 WASHC5 SPG21 SLC33A1
41 spastic paraplegia 25, autosomal recessive 9.3 ZFYVE26 WASHC5 SPG21 SLC33A1
42 spastic paraplegia 19, autosomal dominant 9.3 ZFYVE26 WASHC5 SPG21 SLC33A1
43 spastic paraplegia 44, autosomal recessive 9.3 ZFYVE26 WASHC5 SPG21 SLC33A1
44 spastic paraplegia 20, autosomal recessive 9.3 ZFYVE26 SPG21 SPG11 SPAST SPART
45 spastic paraplegia 46, autosomal recessive 9.2 ZFYVE26 SPG21 SPG11 GBA2 FA2H
46 spastic paraplegia 5a, autosomal recessive 9.2 ZFYVE26 SPG11 SPAST REEP2 FA2H
47 spastic paraplegia 47, autosomal recessive 9.0 ZFYVE26 WASHC5 SPG21 SPG11 REEP1
48 spastic paraplegia 33, autosomal dominant 9.0 WASHC5 SPG21 SPAST SPART SLC33A1 REEP1
49 hereditary spastic paraplegia 23 8.9 ZFYVE26 WASHC5 SPG21 SPG11 SPART SLC33A1
50 spastic paraplegia 43, autosomal recessive 8.8 ZFYVE26 SPG11 SPAST SLC33A1 GBA2 FA2H

Graphical network of the top 20 diseases related to Spastic Paraplegia 26, Autosomal Recessive:



Diseases related to Spastic Paraplegia 26, Autosomal Recessive

Symptoms & Phenotypes for Spastic Paraplegia 26, Autosomal Recessive

Human phenotypes related to Spastic Paraplegia 26, Autosomal Recessive:

58 31 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
2 hyperreflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001347
3 gait disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0001288
4 muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0001324
5 cerebral cortical atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0002120
6 skeletal muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003202
7 babinski sign 58 31 frequent (33%) Frequent (79-30%) HP:0003487
8 hyperintensity of cerebral white matter on mri 58 31 frequent (33%) Frequent (79-30%) HP:0030890
9 sensorimotor neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0007141
10 lower limb spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0002061
11 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
12 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
13 dyskinesia 58 31 occasional (7.5%) Occasional (29-5%) HP:0100660
14 pes cavus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001761
15 dystonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001332
16 decreased serum testosterone level 58 31 occasional (7.5%) Very rare (<4-1%) HP:0040171
17 abnormality of the urinary system 58 31 occasional (7.5%) Occasional (29-5%) HP:0000079
18 abnormal cerebellum morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001317
19 pseudobulbar paralysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0007024
20 impaired vibration sensation at ankles 58 31 occasional (7.5%) Occasional (29-5%) HP:0006938
21 nystagmus 31 occasional (7.5%) HP:0000639
22 urinary urgency 31 occasional (7.5%) HP:0000012
23 premature ovarian insufficiency 58 31 very rare (1%) Very rare (<4-1%) HP:0008209
24 hyporeflexia 58 31 very rare (1%) Very rare (<4-1%) HP:0001265
25 emotional lability 31 HP:0000712
26 dysarthria 31 HP:0001260
27 intellectual disability, mild 31 HP:0001256
28 dysmetria 31 HP:0001310
29 toe walking 31 HP:0040083
30 difficulty walking 31 HP:0002355
31 spastic paraplegia 31 HP:0001258
32 distal amyotrophy 31 HP:0003693
33 spastic gait 31 HP:0002064
34 frequent falls 31 HP:0002359

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
hyperreflexia
ataxia
dysarthria
dysmetria
dystonia
more
Neurologic Behavioral Psychiatric Manifestations:
emotional lability

Head And Neck Eyes:
nystagmus (in some patients)
cataracts (in some patients)
saccadic pursuit (in some patients)

Genitourinary Bladder:
urinary urgency (in some patients)

Endocrine Features:
decreased testosterone (in some patients)

Skeletal Spine:
scoliosis

Skeletal Feet:
pes cavus

Neurologic Peripheral Nervous System:
sensorimotor axonal neuropathy (in some patients)
hyporeflexia (later in disease course)

Muscle Soft Tissue:
distal amyotrophy, especially of the hands and feet

Clinical features from OMIM:

609195

UMLS symptoms related to Spastic Paraplegia 26, Autosomal Recessive:


ataxia

MGI Mouse Phenotypes related to Spastic Paraplegia 26, Autosomal Recessive:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.61 B4GALNT1 FA2H PGAP1 REEP1 SLC33A1 SPAST
2 nervous system MP:0003631 9.28 B4GALNT1 FA2H PGAP1 REEP1 SLC33A1 SPAST

Drugs & Therapeutics for Spastic Paraplegia 26, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 26, Autosomal Recessive

Genetic Tests for Spastic Paraplegia 26, Autosomal Recessive

Anatomical Context for Spastic Paraplegia 26, Autosomal Recessive

MalaCards organs/tissues related to Spastic Paraplegia 26, Autosomal Recessive:

40
Cerebellum, Skeletal Muscle, Eye, Bone, Skin

Publications for Spastic Paraplegia 26, Autosomal Recessive

Articles related to Spastic Paraplegia 26, Autosomal Recessive:

# Title Authors PMID Year
1
Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia. 61 56 6
23746551 2013
2
A new locus for autosomal recessive complicated hereditary spastic paraplegia (SPG26) maps to chromosome 12p11.1-12q14. 61 56
15635080 2005
3
Hereditary Spastic Paraplegia Overview 6
20301682 2000
4
Troyer Syndrome: report of the first "non-Amish" sibship and review. 56
7864052 1994
5
Febrile ataxia and myokymia broaden the SPG26 hereditary spastic paraplegia phenotype. 61
28626794 2017

Variations for Spastic Paraplegia 26, Autosomal Recessive

ClinVar genetic disease variations for Spastic Paraplegia 26, Autosomal Recessive:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 B4GALNT1 NM_001478.5(B4GALNT1):c.395del (p.Pro132fs)deletion Pathogenic 60523 rs766591558 12:58024858-58024858 12:57631075-57631075
2 B4GALNT1 NM_001478.5(B4GALNT1):c.682C>T (p.Arg228Ter)SNV Pathogenic 60524 rs398122382 12:58023965-58023965 12:57630182-57630182
3 B4GALNT1 NM_001478.5(B4GALNT1):c.263dup (p.Leu89fs)duplication Pathogenic 60525 rs745744124 12:58025102-58025103 12:57631319-57631320
4 B4GALNT1 NM_001478.5(B4GALNT1):c.358C>T (p.Gln120Ter)SNV Pathogenic 60526 rs879255241 12:58025008-58025008 12:57631225-57631225
5 B4GALNT1 NM_001478.5(B4GALNT1):c.1298A>C (p.Asp433Ala)SNV Pathogenic 60527 rs879255242 12:58021487-58021487 12:57627704-57627704

UniProtKB/Swiss-Prot genetic disease variations for Spastic Paraplegia 26, Autosomal Recessive:

73
# Symbol AA change Variation ID SNP ID
1 B4GALNT1 p.Arg300Cys VAR_070235 rs756710480
2 B4GALNT1 p.Asp433Ala VAR_070236 rs879255242

Expression for Spastic Paraplegia 26, Autosomal Recessive

Search GEO for disease gene expression data for Spastic Paraplegia 26, Autosomal Recessive.

Pathways for Spastic Paraplegia 26, Autosomal Recessive

Pathways related to Spastic Paraplegia 26, Autosomal Recessive according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.07 SLC33A1 B4GALNT1

GO Terms for Spastic Paraplegia 26, Autosomal Recessive

Cellular components related to Spastic Paraplegia 26, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.96 SPAST SLC33A1 REEP4 REEP2 REEP1 PGAP1
2 endoplasmic reticulum GO:0005783 9.61 WASHC5 SPAST SLC33A1 REEP4 REEP2 REEP1
3 midbody GO:0030496 9.33 ZFYVE26 SPAST SPART
4 endoplasmic reticulum membrane GO:0005789 9.23 SPAST SLC33A1 REEP4 REEP2 REEP1 PGAP1

Biological processes related to Spastic Paraplegia 26, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell division GO:0051301 9.56 ZFYVE26 SPAST SPART REEP4
2 glycosphingolipid metabolic process GO:0006687 9.32 GBA2 B4GALNT1
3 lipid glycosylation GO:0030259 9.16 GBA2 B4GALNT1
4 endoplasmic reticulum tubular network organization GO:0071786 8.96 REEP2 REEP1
5 regulation of intracellular transport GO:0032386 8.62 REEP2 REEP1

Sources for Spastic Paraplegia 26, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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