MCID: SPS034
MIFTS: 18

Spastic Paraplegia 26

Categories: Rare diseases, Genetic diseases, Neuronal diseases, Eye diseases, Gastrointestinal diseases, Bone diseases, Mental diseases, Metabolic diseases

Aliases & Classifications for Spastic Paraplegia 26

MalaCards integrated aliases for Spastic Paraplegia 26:

Name: Spastic Paraplegia 26 53 29 6
Spastic Paraplegia 26, Autosomal Recessive 73
Spg26 53

Classifications:



External Ids:

UMLS 73 C1836632

Summaries for Spastic Paraplegia 26

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 101006Disease definitionAutosomal 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.Visit the Orphanet disease page for more resources.

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 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 Hereditary Spastic Paraplegia
Hereditary Spastic Paraplegia 51 Hereditary Spastic Paraplegia 72
Spastic Paraplegia 4 Spastic Paraplegia 8
Spastic Paraplegia 11 Spastic Paraplegia 1
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 31 Spastic Paraplegia 32
Spastic Paraplegia 39 Spastic Paraplegia 51
Spastic Paraplegia 5a Spastic Paraplegia 5b
Spastic Paraplegia 6 Spastic Paraplegia 9
Autosomal Recessive Spastic Paraplegia Type 60 Autosomal Recessive Spastic Paraplegia Type 59
Autosomal Recessive Spastic Paraplegia Type 68 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

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 12.6
2 hereditary spastic paraplegia 9.9
3 paraplegia 9.9
4 spasticity 9.9

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

Genetic tests related to Spastic Paraplegia 26:

# Genetic test Affiliating Genes
1 Spastic Paraplegia 26 29 B4GALNT1

Anatomical Context for Spastic Paraplegia 26

Publications for Spastic Paraplegia 26

Articles related to Spastic Paraplegia 26:

# Title Authors Year
1
Structural annotation of Beta-1,4-N-acetyl galactosaminyltransferase 1 (B4GALNT1) causing Hereditary Spastic Paraplegia 26. ( 28536081 )
2017

Variations for Spastic Paraplegia 26

ClinVar genetic disease variations for Spastic Paraplegia 26:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 B4GALNT1 NM_001478.4(B4GALNT1): c.395delC (p.Pro132Glnfs) deletion Pathogenic rs766591558 GRCh38 Chromosome 12, 57631075: 57631075
2 B4GALNT1 NM_001478.4(B4GALNT1): c.395delC (p.Pro132Glnfs) deletion Pathogenic rs766591558 GRCh37 Chromosome 12, 58024858: 58024858
3 B4GALNT1 NM_001478.4(B4GALNT1): c.682C> T (p.Arg228Ter) single nucleotide variant Pathogenic rs398122382 GRCh37 Chromosome 12, 58023965: 58023965
4 B4GALNT1 NM_001478.4(B4GALNT1): c.682C> T (p.Arg228Ter) single nucleotide variant Pathogenic rs398122382 GRCh38 Chromosome 12, 57630182: 57630182
5 B4GALNT1 NM_001478.4(B4GALNT1): c.263dupG (p.Leu89Profs) duplication Pathogenic rs778572229 GRCh38 Chromosome 12, 57631320: 57631320
6 B4GALNT1 NM_001478.4(B4GALNT1): c.263dupG (p.Leu89Profs) duplication Pathogenic rs778572229 GRCh37 Chromosome 12, 58025103: 58025103
7 B4GALNT1 NM_001478.4(B4GALNT1): c.358C> T (p.Gln120Ter) single nucleotide variant Pathogenic rs879255241 GRCh37 Chromosome 12, 58025008: 58025008
8 B4GALNT1 NM_001478.4(B4GALNT1): c.358C> T (p.Gln120Ter) single nucleotide variant Pathogenic rs879255241 GRCh38 Chromosome 12, 57631225: 57631225
9 B4GALNT1 NM_001478.4(B4GALNT1): c.1298A> C (p.Asp433Ala) single nucleotide variant Pathogenic rs879255242 GRCh37 Chromosome 12, 58021487: 58021487
10 B4GALNT1 NM_001478.4(B4GALNT1): c.1298A> C (p.Asp433Ala) single nucleotide variant Pathogenic rs879255242 GRCh38 Chromosome 12, 57627704: 57627704

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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