MCID: SPS116
MIFTS: 39

Spastic Paraplegia 26, Autosomal Recessive

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

Aliases & Classifications for Spastic Paraplegia 26, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 26, Autosomal Recessive:

Name: Spastic Paraplegia 26, Autosomal Recessive 57 75 13 73
Spg26 57 12 59 75
Autosomal Recessive Spastic Paraplegia Type 26 12 59
Hereditary Spastic Paraplegia 26 12 15
Gm2 Synthase Deficiency 12 59
Paraplegia, Spastic, Autosomal Recessive, Type 26 40
Autosomal Recessive Spastic Paraplegia 26 12

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive spastic paraplegia type 26
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
spastic paraplegia 26, autosomal recessive:
Onset and clinical course slow progression progressive
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Spastic Paraplegia 26, Autosomal Recessive

UniProtKB/Swiss-Prot : 75 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 hereditary spastic paraplegia and spastic paraplegia 26, 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 are Metabolism and Sphingolipid metabolism. Affiliated tissues include skeletal muscle and cerebellum, and related phenotypes are intellectual disability and gait disturbance

OMIM : 57 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)

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

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 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, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hereditary spastic paraplegia 28.8 B4GALNT1 SLC33A1
2 spastic paraplegia 26 11.3
3 paraplegia 10.0

Symptoms & Phenotypes for Spastic Paraplegia 26, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

57
Neurologic Behavioral Psychiatric Manifestations:
emotional lability

Skeletal Spine:
scoliosis

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

Genitourinary Bladder:
urinary urgency (in some patients)

Endocrine Features:
decreased testosterone (in some patients)

Neurologic Central Nervous System:
ataxia
dysarthria
hyperreflexia
dysmetria
dystonia
more
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

Human phenotypes related to Spastic Paraplegia 26, Autosomal Recessive:

59 32 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
2 gait disturbance 59 32 frequent (33%) Frequent (79-30%) HP:0001288
3 muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0001324
4 hyperreflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001347
5 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
6 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
7 dyskinesia 59 32 occasional (7.5%) Occasional (29-5%) HP:0100660
8 skeletal muscle atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0003202
9 premature ovarian insufficiency 59 32 very rare (1%) Very rare (<4-1%) HP:0008209
10 babinski sign 59 32 frequent (33%) Frequent (79-30%) HP:0003487
11 pes cavus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001761
12 dystonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001332
13 cerebral cortical atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0002120
14 decreased serum testosterone level 59 32 occasional (7.5%) Very rare (<4-1%) HP:0040171
15 hyporeflexia 59 32 very rare (1%) Very rare (<4-1%) HP:0001265
16 hyperintensity of cerebral white matter on mri 59 32 frequent (33%) Frequent (79-30%) HP:0030890
17 abnormality of the urinary system 59 32 occasional (7.5%) Occasional (29-5%) HP:0000079
18 abnormality of the cerebellum 59 32 occasional (7.5%) Occasional (29-5%) HP:0001317
19 sensorimotor neuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0007141
20 lower limb spasticity 59 32 frequent (33%) Frequent (79-30%) HP:0002061
21 pseudobulbar paralysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0007024
22 impaired vibration sensation at ankles 59 32 occasional (7.5%) Occasional (29-5%) HP:0006938
23 nystagmus 32 occasional (7.5%) HP:0000639
24 emotional lability 32 HP:0000712
25 dysarthria 32 HP:0001260
26 intellectual disability, mild 32 HP:0001256
27 dysmetria 32 HP:0001310
28 difficulty walking 32 HP:0002355
29 spastic paraplegia 32 HP:0001258
30 spastic gait 32 HP:0002064
31 frequent falls 32 HP:0002359
32 distal amyotrophy 32 HP:0003693
33 toe walking 32 HP:0040083
34 urinary urgency 32 occasional (7.5%) HP:0000012

UMLS symptoms related to Spastic Paraplegia 26, Autosomal Recessive:


ataxia

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 8.8 SLC33A1 B4GALNT1 GLB1

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 8.8 SLC33A1 B4GALNT1 GLB1

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:

41
Skeletal Muscle, Cerebellum

Publications for Spastic Paraplegia 26, Autosomal Recessive

Articles related to Spastic Paraplegia 26, Autosomal Recessive:

# 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, Autosomal Recessive

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

75
# Symbol AA change Variation ID SNP ID
1 B4GALNT1 p.Arg300Cys VAR_070235 rs756710480
2 B4GALNT1 p.Asp433Ala VAR_070236 rs879255242

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

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, Autosomal Recessive

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

Pathways for Spastic Paraplegia 26, Autosomal Recessive

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 Golgi apparatus GO:0005794 9.13 B4GALNT1 GLB1 ST8SIA5
2 Golgi membrane GO:0000139 8.8 B4GALNT1 SLC33A1 ST8SIA5

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

# Name GO ID Score Top Affiliating Genes
1 glycosphingolipid metabolic process GO:0006687 8.96 B4GALNT1 GLB1
2 carbohydrate metabolic process GO:0005975 8.8 B4GALNT1 GLB1 ST8SIA5

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

# Name GO ID Score Top Affiliating Genes
1 transferase activity, transferring glycosyl groups GO:0016757 8.62 B4GALNT1 ST8SIA5

Sources for Spastic Paraplegia 26, Autosomal Recessive

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
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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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