SPG26
MCID: SPS116
MIFTS: 45

Spastic Paraplegia 26, Autosomal Recessive (SPG26)

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Aliases & Classifications for Spastic Paraplegia 26, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 26, Autosomal Recessive:

Name: Spastic Paraplegia 26, Autosomal Recessive 57 73 71
Spg26 57 11 19 58 73
Hereditary Spastic Paraplegia 26 11 28 5 14
Autosomal Recessive Spastic Paraplegia Type 26 11 58
Gm2 Synthase Deficiency 11 58
Spastic Paraplegia 26 19 12
Paraplegia, Spastic, Autosomal Recessive, Type 26 38
Autosomal Recessive Spastic Paraplegia 26 11

Characteristics:


Inheritance:

Spastic Paraplegia 26, Autosomal Recessive: Autosomal recessive 57
Autosomal Recessive Spastic Paraplegia Type 26: Autosomal recessive 58

Prevelance:

Autosomal Recessive Spastic Paraplegia Type 26: <1/1000000 (Worldwide) 58

Age Of Onset:

Autosomal Recessive Spastic Paraplegia Type 26: Adolescent,Childhood 58

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
slowly progressive disorder
onset in first or second decades of life


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 11 DOID:0110777
OMIM® 57 609195
OMIM Phenotypic Series 57 PS303350
MeSH 43 D015419
ICD10 31 G11.4
MESH via Orphanet 44 C536862
ICD10 via Orphanet 32 G11.4
UMLS via Orphanet 72 C1836632
Orphanet 58 ORPHA101006
MedGen 40 C1836632
UMLS 71 C1836632

Summaries for Spastic Paraplegia 26, Autosomal Recessive

UniProtKB/Swiss-Prot: 73 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 spastic paraplegia 20, autosomal recessive and 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 are Sphingolipid metabolism and Ganglio sphingolipid metabolism. Affiliated tissues include skeletal muscle, cerebellum and brain, and related phenotypes are intellectual disability and hyperreflexia

GARD: 19 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.

Orphanet: 58 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.

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) (Updated 24-Oct-2022)

Disease Ontology: 11 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, 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 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 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
Spastic Paraplegia 84, Autosomal Recessive Spastic Paraplegia 85, Autosomal Recessive
Spastic Paraplegia 86, Autosomal Recessive Spastic Paraplegia 87, Autosomal Recessive
Hereditary Spastic Paraplegia 23 Hereditary Spastic Paraplegia 30
Hereditary Spastic Paraplegia 35 Hereditary Spastic Paraplegia 49
Hereditary Spastic Paraplegia 51 Hereditary Spastic Paraplegia 56
Hereditary Spastic Paraplegia 72 Hereditary Spastic Paraplegia
Spastic Paraplegia 4 Spastic Paraplegia 8
Spastic Paraplegia 11 Spastic Paraplegia 15
Spastic Paraplegia 5b 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 78)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 20, autosomal recessive 29.2 ZFYVE26 WASHC5 SPG21 SPAST SPART REEP2
2 paraplegia 26.6 ZFYVE26 WASHC5 SPG21 SPG11 SPAST SPART
3 hereditary spastic paraplegia 26.3 ZFYVE26 WASHC5 SPG21 SPG11 SPAST SPART
4 spastic paraplegia 52, autosomal recessive 10.2 SPG11 SPAST
5 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 10.2 SPAST SLC33A1
6 gm1-gangliosidosis, type iii 10.1 SPG11 GBA2
7 salt and pepper syndrome 10.1 PGAP1 B4GALNT1
8 mast syndrome 10.1 SPG21 SPG11 SPART
9 nescav syndrome 10.1 ZFYVE26 SPG11 REEP1
10 spastic paraplegia 6, autosomal dominant 10.1 SPAST REEP2
11 spastic paraplegia 63, autosomal recessive 10.0 SPG21 SPG11 PGAP1
12 spastic paraplegia 12, autosomal dominant 10.0 SPAST REEP2 REEP1
13 spastic paraparesis 10.0 SPG11 SPAST FA2H
14 spastic cerebral palsy 10.0 SPAST FA2H
15 neurodegeneration with brain iron accumulation 5 10.0 ZFYVE26 SPG11 FA2H
16 kufor-rakeb syndrome 10.0 SPG11 FA2H
17 hereditary spastic paraplegia 23 10.0 ZFYVE26 SPG21 SPG11 SPART
18 spastic paraplegia 5a, autosomal recessive 10.0 ZFYVE26 WASHC5
19 spastic paraplegia 8, autosomal dominant 10.0 WASHC5 SPG11 SPAST
20 spinocerebellar ataxia, autosomal recessive 24 10.0 GBA2 FA2H
21 spastic paraplegia 41, autosomal dominant 10.0 WASHC5 SPG21 SPAST
22 motor peripheral neuropathy 10.0 ZFYVE26 SPG11 SPAST REEP1
23 aceruloplasminemia 10.0 SPART SLC33A1 FA2H
24 neuropathy, hereditary sensory, type iic 9.9 SPG21 SPG11 REEP1 FA2H
25 seizures, benign familial neonatal, 1 9.9
26 complex hereditary spastic paraplegia 9.9
27 charcot-marie-tooth disease 9.9 ZFYVE26 SPG11 SPAST REEP1
28 spastic paraplegia 57, autosomal recessive 9.9 SPG11 SPAST REEP2 REEP1
29 parkinson disease 15, autosomal recessive early-onset 9.9 SPG11 FA2H
30 spastic paraplegia 4, autosomal dominant 9.9 SPAST SPART REEP2 REEP1
31 charcot-marie-tooth disease, axonal, type 2h 9.9 SPG21 CYP2U1
32 charcot-marie-tooth disease type 2a2a 9.9 SPG21 CYP2U1
33 spastic paraplegia 80, autosomal dominant 9.9 ZFYVE26 SPG11 SPAST REEP2
34 spastic paraplegia 75, autosomal recessive 9.9 ZFYVE26 SPAST REEP2 REEP1
35 spastic paraplegia 50, autosomal recessive 9.9 SPG11 SPAST
36 spastic paraplegia 64, autosomal recessive 9.9 ZFYVE26 SPG21 SPG11 PGAP1
37 sjogren-larsson syndrome 9.9 FA2H DDHD2
38 charcot-marie-tooth disease, axonal, type 2e 9.9 ZFYVE26 SPG21 SPG11 SPAST
39 spastic paraplegia 82, autosomal recessive 9.8 ZFYVE26 REEP2 DDHD2
40 charcot-marie-tooth disease, axonal, type 2t 9.8 SPG21 SPG11 CYP2U1
41 spastic paraplegia 9b, autosomal recessive 9.8 SPG11 SPART REEP2 AP5Z1
42 pontocerebellar hypoplasia, type 2e 9.8 ZFYVE26 WASHC5 SPG11 SPAST
43 spastic paraplegia 28, autosomal recessive 9.7 DDHD2 CYP2U1
44 spastic paraplegia 3, autosomal dominant 9.7 ZFYVE26 WASHC5 SPG11 SPAST REEP1
45 neuronopathy, distal hereditary motor, type va 9.7 SPG11 SPAST SPART REEP2 REEP1 B4GALNT1
46 spastic paraplegia 11, autosomal recessive 9.7 ZFYVE26 SPG21 SPG11 SPAST AP5Z1
47 spastic paraplegia 31, autosomal dominant 9.7 ZFYVE26 SPG11 SPAST SPART REEP2 REEP1
48 spastic paraplegia 48, autosomal recessive 9.7 ZFYVE26 SPG11 SPAST GBA2 AP5Z1
49 spastic paraplegia 79, autosomal recessive 9.6 SPG11 SPAST REEP2 CYP2U1
50 motor neuron disease 9.6 SPAST SPART PGAP1 DDHD2

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 30 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 30 Frequent (33%) Frequent (79-30%)
HP:0001249
2 hyperreflexia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001347
3 gait disturbance 58 30 Frequent (33%) Frequent (79-30%)
HP:0001288
4 muscle weakness 58 30 Frequent (33%) Frequent (79-30%)
HP:0001324
5 skeletal muscle atrophy 58 30 Frequent (33%) Frequent (79-30%)
HP:0003202
6 cerebral cortical atrophy 58 30 Frequent (33%) Frequent (79-30%)
HP:0002120
7 babinski sign 58 30 Frequent (33%) Frequent (79-30%)
HP:0003487
8 lower limb spasticity 58 30 Frequent (33%) Frequent (79-30%)
HP:0002061
9 sensorimotor neuropathy 58 30 Frequent (33%) Frequent (79-30%)
HP:0007141
10 hyperintensity of cerebral white matter on mri 58 30 Frequent (33%) Frequent (79-30%)
HP:0030890
11 scoliosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002650
12 cataract 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000518
13 dyskinesia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100660
14 abnormality of the urinary system 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000079
15 dystonia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001332
16 pes cavus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001761
17 abnormal cerebellum morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001317
18 pseudobulbar paralysis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007024
19 impaired vibration sensation at ankles 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006938
20 nystagmus 30 Occasional (7.5%) HP:0000639
21 urinary urgency 30 Occasional (7.5%) HP:0000012
22 decreased serum testosterone concentration 30 Occasional (7.5%) HP:0040171
23 premature ovarian insufficiency 58 30 Very rare (1%) Very rare (<4-1%)
HP:0008209
24 hyporeflexia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001265
25 emotional lability 30 HP:0000712
26 dysarthria 30 HP:0001260
27 intellectual disability, mild 30 HP:0001256
28 dysmetria 30 HP:0001310
29 spastic paraplegia 30 HP:0001258
30 difficulty walking 30 HP:0002355
31 frequent falls 30 HP:0002359
32 spastic gait 30 HP:0002064
33 distal amyotrophy 30 HP:0003693
34 decreased serum testosterone level 58 Very rare (<4-1%)
35 tip-toe gait 30 HP:0030051

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
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 (Updated 24-Oct-2022)

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 nervous system MP:0003631 9.97 AP5Z1 B4GALNT1 DDHD2 FA2H PGAP1 REEP1
2 cellular MP:0005384 9.7 AP5Z1 B4GALNT1 GBA2 PGAP1 REEP1 SLC33A1
3 behavior/neurological MP:0005386 9.47 AP5Z1 B4GALNT1 CYP2U1 DDHD2 FA2H PGAP1

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

Genetic tests related to Spastic Paraplegia 26, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Hereditary Spastic Paraplegia 26 28 B4GALNT1

Anatomical Context for Spastic Paraplegia 26, Autosomal Recessive

Organs/tissues related to Spastic Paraplegia 26, Autosomal Recessive:

MalaCards : Skeletal Muscle, Cerebellum, Brain
ODiseA: Brain

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. 62 57 5
23746551 2013
2
A new locus for autosomal recessive complicated hereditary spastic paraplegia (SPG26) maps to chromosome 12p11.1-12q14. 62 57
15635080 2005
3
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery. 5
32214227 2020
4
Troyer Syndrome: report of the first "non-Amish" sibship and review. 57
7864052 1994
5
Functional validation of novel variants in B4GALNT1 associated with early-onset complex hereditary spastic paraplegia with impaired ganglioside synthesis. 62
35775650 2022
6
A Compound Heterozygous Pathogenic Variant in B4GALNT1 Is Associated With Axonal Charcot-Marie-Tooth Disease. 62
34595861 2021
7
The investigation of genetic and clinical features in patients with hereditary spastic paraplegia in central-Southern China. 62
33638609 2021
8
Structural annotation of Beta-1,4-N-acetyl galactosaminyltransferase 1 (B4GALNT1) causing Hereditary Spastic Paraplegia 26. 62
28536081 2017
9
Febrile ataxia and myokymia broaden the SPG26 hereditary spastic paraplegia phenotype. 62
28626794 2017

Variations for Spastic Paraplegia 26, Autosomal Recessive

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

5 (show all 12)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 B4GALNT1 NM_001478.5(B4GALNT1):c.395del (p.Pro132fs) DEL Pathogenic
60523 rs766591558 GRCh37: 12:58024858-58024858
GRCh38: 12:57631075-57631075
2 B4GALNT1 NM_001478.5(B4GALNT1):c.263dup (p.Leu89fs) DUP Pathogenic
60525 rs745744124 GRCh37: 12:58025102-58025103
GRCh38: 12:57631319-57631320
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.1298A>C (p.Asp433Ala) SNV Pathogenic
60527 rs879255242 GRCh37: 12:58021487-58021487
GRCh38: 12:57627704-57627704
5 B4GALNT1 NM_001478.5(B4GALNT1):c.1415G>C (p.Arg472Pro) SNV Pathogenic
989143 GRCh37: 12:58020714-58020714
GRCh38: 12:57626931-57626931
6 B4GALNT1 NM_001478.5(B4GALNT1):c.1513C>T (p.Arg505Cys) SNV Pathogenic
989144 GRCh37: 12:58020616-58020616
GRCh38: 12:57626833-57626833
7 B4GALNT1 NM_001478.5(B4GALNT1):c.532-2A>G SNV Pathogenic
839034 rs1885117995 GRCh37: 12:58024117-58024117
GRCh38: 12:57630334-57630334
8 B4GALNT1 NM_001478.5(B4GALNT1):c.682C>T (p.Arg228Ter) SNV Pathogenic
60524 rs398122382 GRCh37: 12:58023965-58023965
GRCh38: 12:57630182-57630182
9 B4GALNT1 NM_001478.5(B4GALNT1):c.1002G>T (p.Lys334Asn) SNV Pathogenic
947526 rs1471760048 GRCh37: 12:58022496-58022496
GRCh38: 12:57628713-57628713
10 B4GALNT1 NM_001478.5(B4GALNT1):c.728A>G (p.Glu243Gly) SNV Uncertain Significance
458224 rs149670131 GRCh37: 12:58022914-58022914
GRCh38: 12:57629131-57629131
11 B4GALNT1 NM_001478.5(B4GALNT1):c.793G>A (p.Gly265Arg) SNV Benign
239026 rs144922627 GRCh37: 12:58022849-58022849
GRCh38: 12:57629066-57629066
12 B4GALNT1 NM_001478.5(B4GALNT1):c.1088C>G (p.Ala363Gly) SNV Not Provided
851170 rs1344371363 GRCh37: 12:58021960-58021960
GRCh38: 12:57628177-57628177

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
11.41 GBA2 FA2H B4GALNT1
2
Show member pathways
9.77 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 endoplasmic reticulum membrane GO:0005789 9.83 SPAST SLC33A1 REEP2 REEP1 PGAP1 GBA2
2 endoplasmic reticulum GO:0005783 9.5 WASHC5 SPAST SLC33A1 REEP2 REEP1 PGAP1
3 endoplasmic reticulum tubular network GO:0071782 9.46 REEP2 REEP1

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

# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.77 GBA2 FA2H DDHD2 CYP2U1 B4GALNT1
2 lipid droplet organization GO:0034389 9.71 SPART DDHD2
3 endoplasmic reticulum tubular network organization GO:0071786 9.62 REEP2 REEP1
4 lipid glycosylation GO:0030259 9.56 GBA2 B4GALNT1
5 autophagosome organization GO:1905037 9.46 ZFYVE26 SPG11
6 lysosome organization GO:0007040 9.43 ZFYVE26 WASHC5 SPG11
7 sphingolipid metabolic process GO:0006665 8.8 GBA2 FA2H B4GALNT1

Sources for Spastic Paraplegia 26, Autosomal Recessive

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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