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SPG46
MCID: SPS109
MIFTS: 42

Spastic Paraplegia 46, Autosomal Recessive (SPG46)

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
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Aliases & Classifications for Spastic Paraplegia 46, Autosomal Recessive

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MalaCards integrated aliases for Spastic Paraplegia 46, Autosomal Recessive:

Name: Spastic Paraplegia 46, Autosomal Recessive 56 73 29 13 6 71
Spg46 56 12 58 73
Autosomal Recessive Spastic Paraplegia Type 46 12 58
Hereditary Spastic Paraplegia 46 12 15
Paraplegia, Spastic, Type 46, Autosomal Recessive 39
Autosomal Recessive Spastic Paraplegia 46 12

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive spastic paraplegia type 46
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset in childhood (range 2 to 16 years)
some patients present with spasticity, whereas others present with cerebellar ataxia
some patients may have normal brain imaging


HPO:

31
spastic paraplegia 46, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive slow progression


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Eye diseases Gastrointestinal diseases Skin diseases Respiratory diseases Bone diseases Nephrological diseases Ear diseases Mental diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare neurological diseases


Sources

Summaries for Spastic Paraplegia 46, Autosomal Recessive

About this section
OMIM : 56 Autosomal recessive spastic paraplegia-46 (SPG46) is a neurodegenerative disorder characterized by onset in childhood of slowly progressive spastic paraplegia and cerebellar signs. Some patients have cognitive impairment, cataracts, and cerebral, cerebellar, and corpus callosum atrophy on brain imaging (summary by Boukhris et al., 2010 and Martin et al., 2013). (614409)

MalaCards based summary : Spastic Paraplegia 46, Autosomal Recessive, also known as spg46, is related to mast syndrome and aceruloplasminemia, and has symptoms including cerebellar ataxia and abnormal pyramidal signs. An important gene associated with Spastic Paraplegia 46, Autosomal Recessive is GBA2 (Glucosylceramidase Beta 2). Affiliated tissues include brain, eye and bone, and related phenotypes are cataract and babinski sign

Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the GBA2 gene on chromosome 9p.

UniProtKB/Swiss-Prot : 73 Spastic paraplegia 46, autosomal recessive: A neurodegenerative disorder characterized by onset in childhood of slowly progressive spastic paraplegia and cerebellar signs. Some patients have cognitive impairment, cataracts, and cerebral, cerebellar, and corpus callosum atrophy on brain imaging.

Sources

Related Diseases for Spastic Paraplegia 46, Autosomal Recessive

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

(show top 50) (show all 86)
# Related Disease Score Top Affiliating Genes
1 mast syndrome 30.4 SPG21 SPG11
2 aceruloplasminemia 29.6 SPG11 GBA2 FA2H
3 spastic paraplegia 32, autosomal recessive 29.3 ZFYVE26 SPG7 SPG21 SPG11
4 spastic paraplegia 11, autosomal recessive 29.3 ZFYVE26 SPG7 SPG21 SPG11
5 spastic paraplegia 15, autosomal recessive 28.0 ZFYVE26 SPG7 SPG21 SPG11 GBA2 FA2H
6 spastic paraplegia 56, autosomal recessive 27.9 SPG21 SPG11 GBA2 FA2H DDHD2 DDHD1
7 spastic paraplegia 18, autosomal recessive 27.6 ZFYVE26 SPG7 SPG21 SPG11 FA2H DDHD1
8 paraplegia 26.3 ZFYVE26 SPG7 SPG21 SPG11 PNPLA6 GBA2
9 hereditary spastic paraplegia 25.8 ZFYVE26 SPG7 SPG21 SPG11 PNPLA6 KIF1C
10 spastic paraplegia 5a 10.4 GBA2 CYP2U1
11 spastic paraplegia 34, x-linked 10.3 ZFYVE26 SPG21
12 spastic paraplegia 29, autosomal dominant 10.2 ZFYVE26 SPG21
13 ataxia and polyneuropathy, adult-onset 10.2
14 spastic paraplegia 37, autosomal dominant 10.2 ZFYVE26 SPG21
15 spastic paraplegia 25, autosomal recessive 10.2 ZFYVE26 SPG21
16 charcot-marie-tooth disease, axonal, type 2h 10.2 SPG21 CYP2U1
17 spastic paraplegia 19, autosomal dominant 10.2 ZFYVE26 SPG21
18 spinocerebellar ataxia, autosomal recessive 21 10.2 KIF1C GBA2
19 spastic paraplegia 63, autosomal recessive 10.2 SPG21 SPG11
20 spinocerebellar ataxia, autosomal recessive 20 10.2 ZFYVE26 SPG11
21 spastic paraplegia 27, autosomal recessive 10.1 SPG21 KIF1C
22 charcot-marie-tooth disease, axonal, type 2b2 10.1 SPG21 CYP2U1
23 spastic paraplegia 36, autosomal dominant 10.1 SPG21 KIF1C
24 autosomal dominant non-syndromic intellectual disability 9 10.1 ZFYVE26 AP5Z1
25 gaucher disease, type i 10.1
26 spastic paraplegia 7, autosomal recessive 10.1
27 male infertility 10.1
28 gaucher's disease 10.1
29 spastic paraplegia 15 10.1
30 spastic paraplegia 18 10.1
31 spastic paraplegia 32 10.1
32 spastic paraplegia 16, x-linked 10.1 ZFYVE26 SPG21 SPG11
33 parkinson disease 15, autosomal recessive early-onset 10.1 SPG11 FA2H
34 spastic paraplegia 3, autosomal dominant 10.1 ZFYVE26 SPG11
35 spastic paraplegia 17, autosomal dominant 10.0 ZFYVE26 SPG21 SPG11
36 neuropathy, hereditary sensory, type iic 10.0 SPG21 SPG11 FA2H
37 spastic paraplegia 73, autosomal dominant 10.0 SPG21 KIF1C GBA2
38 charcot-marie-tooth disease, axonal, type 2r 10.0 ZFYVE26 SPG21 CYP2U1
39 spastic paraplegia 45, autosomal recessive 10.0 SPG21 KIF1C DDHD2
40 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome 9.9 DDHD2 DDHD1
41 hereditary spastic paraplegia 51 9.9 ZFYVE26 SPG11 AP5Z1
42 spastic paraplegia 50, autosomal recessive 9.9 ZFYVE26 SPG11 AP5Z1
43 amyotrophic lateral sclerosis type 5 9.9 ZFYVE26 SPG11 AP5Z1
44 sengers syndrome 9.9 DDHD2 DDHD1
45 spastic paraplegia 44, autosomal recessive 9.9 ZFYVE26 SPG21 AP5Z1
46 spastic paraplegia 77, autosomal recessive 9.8 ZFYVE26 SPG11 GBA2 FA2H
47 spastic paraplegia 14, autosomal recessive 9.8 ZFYVE26 SPG21 SPG11 FA2H
48 hereditary spastic paraplegia 23 9.8 ZFYVE26 SPG21 SPG11 KIF1C
49 complex hereditary spastic paraplegia 9.7 SPG7 SPG11 DDHD2
50 hereditary spastic paraplegia 72 9.7 ZFYVE26 SPG21 SPG11 AP5Z1

Graphical network of the top 20 diseases related to Spastic Paraplegia 46, Autosomal Recessive:



Diseases related to Spastic Paraplegia 46, Autosomal Recessive
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Symptoms & Phenotypes for Spastic Paraplegia 46, Autosomal Recessive

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Human phenotypes related to Spastic Paraplegia 46, Autosomal Recessive:

58 31 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cataract 58 31 hallmark (90%) Very frequent (99-80%) HP:0000518
2 babinski sign 58 31 hallmark (90%) Very frequent (99-80%) HP:0003487
3 difficulty walking 58 31 hallmark (90%) Very frequent (99-80%) HP:0002355
4 lower limb spasticity 58 31 hallmark (90%) Very frequent (99-80%) HP:0002061
5 cerebral cortical atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0002120
6 cerebellar atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0001272
7 corpus callosum atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0007371
8 hyperreflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001347
9 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
10 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
11 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
12 abnormal tendon morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0100261
13 pes cavus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001761
14 decreased testicular size 58 31 occasional (7.5%) Occasional (29-5%) HP:0008734
15 dementia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000726
16 infertility 58 31 occasional (7.5%) Occasional (29-5%) HP:0000789
17 truncal ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002078
18 urinary incontinence 58 31 occasional (7.5%) Occasional (29-5%) HP:0000020
19 head tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0002346
20 peripheral axonal neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003477
21 reduced sperm motility 58 31 occasional (7.5%) Occasional (29-5%) HP:0012207
22 jerky ocular pursuit movements 58 31 occasional (7.5%) Occasional (29-5%) HP:0008003
23 spastic dysarthria 58 31 occasional (7.5%) Occasional (29-5%) HP:0002464
24 broad-based gait 58 31 occasional (7.5%) Occasional (29-5%) HP:0002136
25 upper limb spasticity 58 31 occasional (7.5%) Occasional (29-5%) HP:0006986
26 impaired vibration sensation at ankles 58 31 occasional (7.5%) Occasional (29-5%) HP:0006938
27 sperm head anomaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0012865
28 intellectual disability 31 occasional (7.5%) HP:0001249
29 kyphosis 31 occasional (7.5%) HP:0002808
30 impaired vibration sensation in the lower limbs 31 occasional (7.5%) HP:0002166
31 cerebral atrophy 58 31 Frequent (79-30%) HP:0002059
32 abnormal pyramidal sign 58 Occasional (29-5%)
33 ataxia 58 Very frequent (99-80%)
34 dysarthria 31 HP:0001260
35 cognitive impairment 58 Frequent (79-30%)
36 abnormality of the cerebral white matter 58 Frequent (79-30%)
37 hypoplasia of the corpus callosum 31 HP:0002079
38 spastic paraplegia 31 HP:0001258
39 lower limb muscle weakness 31 HP:0007340
40 ankle clonus 31 HP:0011448
41 spastic gait 31 HP:0002064
42 limb dysmetria 31 HP:0002406
43 abnormal sperm morphology 58 Occasional (29-5%)
44 knee clonus 31 HP:0011449
45 upper limb dysmetria 31 HP:0020036

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
hyperreflexia
dysarthria
cerebellar atrophy
lower limb spasticity
spastic gait
more
Muscle Soft Tissue:
limb muscle weakness
increased muscle tone

Head And Neck Ears:
hearing loss (in some patients)

Genitourinary Bladder:
urinary incontinence (variable)

Neurologic Peripheral Nervous System:
decreased vibratory sense in the lower limbs (in some patients)
axonal sensory polyneuropathy (in some patients)

Head And Neck Eyes:
nystagmus
jerky smooth pursuit
cataracts, congenital (in some patients)

Skeletal Spine:
scoliosis (in some patients)
kyphosis (in some patients)

Skeletal Feet:
pes cavus (in some patients)

Genitourinary Internal Genitalia Male:
small testicles (in some patients)
abnormal sperm head (in some patients)
low sperm velocity (in some patients)
infertility (in some male patients)

Clinical features from OMIM:

614409

UMLS symptoms related to Spastic Paraplegia 46, Autosomal Recessive:


cerebellar ataxia, abnormal pyramidal signs
Sources

Drugs & Therapeutics for Spastic Paraplegia 46, Autosomal Recessive

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Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 46, Autosomal Recessive

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Genetic Tests for Spastic Paraplegia 46, Autosomal Recessive

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Genetic tests related to Spastic Paraplegia 46, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Spastic Paraplegia 46, Autosomal Recessive 29 GBA2
Sources

Anatomical Context for Spastic Paraplegia 46, Autosomal Recessive

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MalaCards organs/tissues related to Spastic Paraplegia 46, Autosomal Recessive:

40
Brain, Eye, Bone, Skin
Sources

Publications for Spastic Paraplegia 46, Autosomal Recessive

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Articles related to Spastic Paraplegia 46, Autosomal Recessive:

(show all 16)
# Title Authors PMID Year
1
A new locus (SPG46) maps to 9p21.2-q21.12 in a Tunisian family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum. 61 56 6
20593214 2010
2
A novel GBA2 gene missense mutation in spastic ataxia. 56 6
24252062 2014
3
Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia. 56 6
23332916 2013
4
Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity. 56 6
23332917 2013
5
Hereditary spastic paraplegia with mental impairment and thin corpus callosum in Tunisia: SPG11, SPG15, and further genetic heterogeneity. 56
18332254 2008
6
Distinct phenotypes within autosomal recessive ataxias not linked to already known loci. 56
16550933 2005
7
Hereditary Spastic Paraplegia Overview 6
20301682 2000
8
New biallelic GBA2 variant in a patient with SPG46. 61
31955126 2020
9
Assay of β-glucosidase 2 (GBA2) activity using lithocholic acid β-3-O-glucoside substrate for cultured fibroblasts and glucosylceramide for brain tissue. 61
30864417 2019
10
Species-specific differences in nonlysosomal glucosylceramidase GBA2 function underlie locomotor dysfunction arising from loss-of-function mutations. 61
30662006 2019
11
Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China. 61
29980238 2018
12
Novel homozygous GBA2 mutation in a patient with complicated spastic paraplegia. 61
29524657 2018
13
SPG46 and SPG56 are rare causes of hereditary spastic paraplegia in China. 61
27553021 2016
14
ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease. 61
26556829 2016
15
Lack of enzyme activity in GBA2 mutants associated with hereditary spastic paraplegia/cerebellar ataxia (SPG46). 61
26220345 2015
16
Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis. 61
24337409 2014
Sources

Variations for Spastic Paraplegia 46, Autosomal Recessive

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ClinVar genetic disease variations for Spastic Paraplegia 46, Autosomal Recessive:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GBA2 NM_020944.3(GBA2):c.700C>T (p.Arg234Ter)SNV Pathogenic 41486 rs398123013 9:35741755-35741755 9:35741758-35741758
2 GBA2 NM_020944.3(GBA2):c.1471_1474dup (p.Thr492fs)duplication Pathogenic 41488 9:35739732-35739733 9:35739735-35739736
3 GBA2 NM_020944.3(GBA2):c.1018C>T (p.Arg340Ter)SNV Pathogenic 41489 rs398123014 9:35740830-35740830 9:35740833-35740833
4 GBA2 NM_020944.3(GBA2):c.518G>A (p.Trp173Ter)SNV Pathogenic 638294 9:35744343-35744343 9:35744346-35744346
5 GBA2 NM_020944.3(GBA2):c.363C>A (p.Tyr121Ter)SNV Pathogenic 638293 9:35744700-35744700 9:35744703-35744703
6 GBA2 NM_020944.3(GBA2):c.1888C>T (p.Arg630Trp)SNV Pathogenic/Likely pathogenic 41485 rs398123012 9:35738808-35738808 9:35738811-35738811
7 GBA2 NM_020944.3(GBA2):c.2618G>A (p.Arg873His)SNV Pathogenic/Likely pathogenic 41490 rs398123015 9:35737332-35737332 9:35737335-35737335
8 GBA2 NM_020944.3(GBA2):c.1780G>C (p.Asp594His)SNV Likely pathogenic 92166 rs398123064 9:35739014-35739014 9:35739017-35739017
9 GBA2 NM_020944.3(GBA2):c.1285C>T (p.Arg429Trp)SNV Uncertain significance 638396 9:35740119-35740119 9:35740122-35740122
10 GBA2 NM_020944.3(GBA2):c.1030G>C (p.Ala344Pro)SNV not provided 440972 rs750984776 9:35740622-35740622 9:35740625-35740625

UniProtKB/Swiss-Prot genetic disease variations for Spastic Paraplegia 46, Autosomal Recessive:

73
# Symbol AA change Variation ID SNP ID
1 GBA2 p.Arg630Trp VAR_069634 rs398123012
2 GBA2 p.Arg873His VAR_069635 rs398123015
3 GBA2 p.Asp594His VAR_081410 rs398123064

Sources

Expression for Spastic Paraplegia 46, Autosomal Recessive

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Search GEO for disease gene expression data for Spastic Paraplegia 46, Autosomal Recessive.
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Pathways for Spastic Paraplegia 46, Autosomal Recessive

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GO Terms for Spastic Paraplegia 46, Autosomal Recessive

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Cellular components related to Spastic Paraplegia 46, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axon cytoplasm GO:1904115 8.62 SPG7 KIF1C

Biological processes related to Spastic Paraplegia 46, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipid catabolic process GO:0016042 9.33 DDHD1 DDHD2 PNPLA6
2 phosphatidic acid biosynthetic process GO:0006654 9.26 DDHD1 DDHD2
3 lipid metabolic process GO:0006629 9.02 DDHD1 DDHD2 FA2H GBA2 PNPLA6
4 positive regulation of mitochondrial fission GO:0090141 8.96 DDHD1 DDHD2

Molecular functions related to Spastic Paraplegia 46, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phospholipase activity GO:0004620 8.62 DDHD2 DDHD1
Sources

Sources for Spastic Paraplegia 46, Autosomal Recessive

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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