SPG26
MCID: SPS034
MIFTS: 16

Spastic Paraplegia 26 (SPG26)

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

Aliases & Classifications for Spastic Paraplegia 26

MalaCards integrated aliases for Spastic Paraplegia 26:

Name: Spastic Paraplegia 26 20 6
Spastic Paraplegia 26, Autosomal Recessive 70
Spg26 20

Classifications:



External Ids:

UMLS 70 C1836632

Summaries for Spastic Paraplegia 26

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 101006 Definition Autosomal recessive spastic paraplegia type 26 (SPG26) is a rare, complex type of hereditary spastic paraplegia characterized by the onset in childhood/adolescence (ages 2-19) of progressive spastic paraplegia associated mainly with mild to moderate cognitive impairment and developmental delay, cerebellar ataxia, dysarthria, and peripheral neuropathy. Less commonly reported manifestations include skeletal abnormalities (i.e. pes cavus, scoliosis ), dyskinesia, dystonia, cataracts, cerebellar signs (i.e. saccadic dysfunction, nystagmus, dysmetria), bladder disturbances, and behavioral problems. SPG26 is caused by mutations in the B4GALNT1 gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 1.

MalaCards based summary : Spastic Paraplegia 26, also known as spastic paraplegia 26, autosomal recessive, is related to spastic paraplegia 26, autosomal recessive and hereditary spastic paraplegia, and has symptoms including ataxia An important gene associated with Spastic Paraplegia 26 is B4GALNT1 (Beta-1,4-N-Acetyl-Galactosaminyltransferase 1).

Related Diseases for Spastic Paraplegia 26

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 Dominant
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
Spastic Paraplegia 81, Autosomal Recessive Spastic Paraplegia 82, Autosomal Recessive
Spastic Paraplegia 83, Autosomal Recessive Hereditary Spastic Paraplegia 23
Hereditary Spastic Paraplegia 30 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 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 26, autosomal recessive 11.8
2 hereditary spastic paraplegia 10.0
3 paraplegia 10.0
4 seizures, benign familial neonatal, 1 9.9
5 ataxia and polyneuropathy, adult-onset 9.9

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



Diseases related to Spastic Paraplegia 26

Symptoms & Phenotypes for Spastic Paraplegia 26

UMLS symptoms related to Spastic Paraplegia 26:


ataxia

Drugs & Therapeutics for Spastic Paraplegia 26

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 26

Genetic Tests for Spastic Paraplegia 26

Anatomical Context for Spastic Paraplegia 26

Publications for Spastic Paraplegia 26

Articles related to Spastic Paraplegia 26:

# Title Authors PMID Year
1
Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia. 61 6
23746551 2013
2
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery. 6
32214227 2020
3
The investigation of genetic and clinical features in patients with hereditary spastic paraplegia in central-Southern China. 61
33638609 2021
4
Structural annotation of Beta-1,4-N-acetyl galactosaminyltransferase 1 (B4GALNT1) causing Hereditary Spastic Paraplegia 26. 61
28536081 2017
5
Febrile ataxia and myokymia broaden the SPG26 hereditary spastic paraplegia phenotype. 61
28626794 2017
6
A new locus for autosomal recessive complicated hereditary spastic paraplegia (SPG26) maps to chromosome 12p11.1-12q14. 61
15635080 2005

Variations for Spastic Paraplegia 26

ClinVar genetic disease variations for Spastic Paraplegia 26:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 B4GALNT1 NM_001478.5(B4GALNT1):c.395del (p.Pro132fs) Deletion Pathogenic 60523 rs766591558 GRCh37: 12:58024858-58024858
GRCh38: 12:57631075-57631075
2 B4GALNT1 NM_001478.5(B4GALNT1):c.1298A>C (p.Asp433Ala) SNV Pathogenic 60527 rs879255242 GRCh37: 12:58021487-58021487
GRCh38: 12:57627704-57627704
3 B4GALNT1 NM_001478.5(B4GALNT1):c.358C>T (p.Gln120Ter) SNV Pathogenic 60526 rs879255241 GRCh37: 12:58025008-58025008
GRCh38: 12:57631225-57631225
4 B4GALNT1 NM_001478.5(B4GALNT1):c.682C>T (p.Arg228Ter) SNV Pathogenic 60524 rs398122382 GRCh37: 12:58023965-58023965
GRCh38: 12:57630182-57630182
5 B4GALNT1 NM_001478.5(B4GALNT1):c.263dup (p.Leu89fs) Duplication Pathogenic 60525 rs745744124 GRCh37: 12:58025102-58025103
GRCh38: 12:57631319-57631320
6 B4GALNT1 NM_001478.5(B4GALNT1):c.728A>G (p.Glu243Gly) SNV Uncertain significance 458224 rs149670131 GRCh37: 12:58022914-58022914
GRCh38: 12:57629131-57629131
7 B4GALNT1 NM_001478.5(B4GALNT1):c.793G>A (p.Gly265Arg) SNV Benign 239026 rs144922627 GRCh37: 12:58022849-58022849
GRCh38: 12:57629066-57629066

Expression for Spastic Paraplegia 26

Search GEO for disease gene expression data for Spastic Paraplegia 26.

Pathways for Spastic Paraplegia 26

GO Terms for Spastic Paraplegia 26

Sources for Spastic Paraplegia 26

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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