SPG43
MCID: SPS130
MIFTS: 39

Spastic Paraplegia 43, Autosomal Recessive (SPG43)

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

Aliases & Classifications for Spastic Paraplegia 43, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 43, Autosomal Recessive:

Name: Spastic Paraplegia 43, Autosomal Recessive 56 73 29 13 6 71
Spg43 56 12 58 73
Autosomal Recessive Spastic Paraplegia Type 43 12 58
Hereditary Spastic Paraplegia 43 12 15
Paraplegia, Spastic, Type 43, Autosomal Recessive 39
Autosomal Recessive Spastic Paraplegia 43 12

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive spastic paraplegia type 43
Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
slowly progressive
onset in first decade
one family of mali origin has been reported (last curated january 2013)


HPO:

31
spastic paraplegia 43, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110795
OMIM 56 615043
OMIM Phenotypic Series 56 PS303350
MeSH 43 D015419
ICD10 32 G11.4
ICD10 via Orphanet 33 G11.4
Orphanet 58 ORPHA320370
UMLS 71 C2680446

Summaries for Spastic Paraplegia 43, Autosomal Recessive

UniProtKB/Swiss-Prot : 73 Spastic paraplegia 43, 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. SP43 is characterized by childhood onset of progressive spasticity affecting the lower and upper limbs.

MalaCards based summary : Spastic Paraplegia 43, Autosomal Recessive, also known as spg43, is related to neurodegeneration with brain iron accumulation 4 and neurodegeneration with brain iron accumulation, and has symptoms including muscle spasticity An important gene associated with Spastic Paraplegia 43, Autosomal Recessive is C19orf12 (Chromosome 19 Open Reading Frame 12). Related phenotypes are babinski sign and distal amyotrophy

Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the C19ORF12 gene on chromosome 19q12.

OMIM : 56 Spastic paraplegia-43 (SPG43) is an autosomal recessive neurodegenerative disorder characterized by childhood onset of progressive spasticity affecting the lower and upper limbs (summary by Meilleur et al., 2010). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see 270800. (615043)

Related Diseases for Spastic Paraplegia 43, 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 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
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 43, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 68)
# Related Disease Score Top Affiliating Genes
1 neurodegeneration with brain iron accumulation 4 29.8 PLA2G6 FA2H ERLIN2 C19orf12
2 neurodegeneration with brain iron accumulation 29.7 SPG11 PLA2G6 FA2H C19orf12
3 paraplegia 26.0 WASHC5 VPS37A SPG11 SPAST SLC33A1 PNPLA6
4 hereditary spastic paraplegia 25.3 WASHC5 VPS37A SPG11 SPAST SLC33A1 PNPLA6
5 mitochondrial membrane protein-associated neurodegeneration 10.2
6 spastic paraplegia 5a 10.2 GBA2 C19orf12
7 spastic paraplegia 57, autosomal recessive 10.1 SPG11 ERLIN2
8 spastic paraplegia 5a, autosomal recessive 10.1 SPG11 SPAST PNPLA6
9 neuropathy, hereditary sensory, type iic 10.1 SPG11 FA2H ERLIN2
10 spastic paraplegia 50, autosomal recessive 10.0 VPS37A SPG11
11 spastic paraplegia 11, autosomal recessive 10.0 SPG11 SPAST
12 pure hereditary spastic paraplegia 10.0 SPAST ERLIN2 ATL1
13 oromandibular dystonia 10.0 PLA2G6 C19orf12
14 juvenile amyotrophic lateral sclerosis 10.0 SPG11 C19orf12
15 spastic paraplegia 47, autosomal recessive 9.9 WASHC5 SPG11
16 spastic paraplegia 76, autosomal recessive 9.9 SPG11 PNPLA6 GBA2
17 spastic paraplegia 28, autosomal recessive 9.9 SPG11 PNPLA6 FA2H ERLIN2
18 spastic paraplegia 56, autosomal recessive 9.8 SPG11 GBA2 FA2H
19 neurodegeneration with brain iron accumulation 2b 9.8 PLA2G6 FA2H C19orf12
20 spastic paraplegia, optic atrophy, and neuropathy 9.8 WASHC5 VPS37A
21 neurodegeneration with brain iron accumulation 3 9.8 PLA2G6 FA2H C19orf12
22 neurodegeneration with brain iron accumulation 6 9.8 PLA2G6 FA2H C19orf12
23 neurodegeneration with brain iron accumulation 2a 9.8 PLA2G6 FA2H C19orf12
24 neurodegeneration with brain iron accumulation 1 9.8 PLA2G6 FA2H C19orf12
25 kufor-rakeb syndrome 9.8 PLA2G6 FA2H C19orf12
26 neuroaxonal dystrophy 9.8 PLA2G6 FA2H C19orf12
27 spastic paraparesis 9.8 VPS37A SPG11 SPAST FA2H
28 spastic paraplegia 20, autosomal recessive 9.8 SPG11 SPAST PNPLA6 ATL1
29 spastic paraplegia 61, autosomal recessive 9.7 SPG11 SPAST ATL1 ARL6IP1
30 spastic paraplegia 18, autosomal recessive 9.7 WASHC5 SPG11 FA2H ERLIN2
31 spastic paraplegia 54, autosomal recessive 9.7 SPG11 PNPLA6 GBA2 FA2H
32 spastic paraplegia 29, autosomal dominant 9.7 WASHC5 SLC33A1
33 spastic paraplegia 25, autosomal recessive 9.7 WASHC5 SLC33A1
34 spastic paraplegia 44, autosomal recessive 9.7 SPG11 SLC33A1 ERLIN2
35 spastic paraplegia 19, autosomal dominant 9.6 WASHC5 SLC33A1
36 neurodegeneration with brain iron accumulation 5 9.6 SPG11 PLA2G6 FA2H C19orf12
37 spastic paraplegia 34, x-linked 9.6 WASHC5 SLC33A1
38 parkinson disease 15, autosomal recessive early-onset 9.6 SPG11 PLA2G6 FA2H C19orf12
39 spastic paraplegia 33, autosomal dominant 9.6 WASHC5 SPG11 SPAST ATL1
40 spastic paraplegia 73, autosomal dominant 9.6 PNPLA6 GBA2 FA2H ATL1
41 spastic paraplegia 31, autosomal dominant 9.6 WASHC5 SPG11 SPAST ATL1
42 spastic paraplegia 10, autosomal dominant 9.6 WASHC5 SPG11 SPAST ATL1
43 spastic paraplegia 17, autosomal dominant 9.6 WASHC5 SPG11 SPAST ATL1
44 spastic paraplegia 3, autosomal dominant 9.6 WASHC5 SPG11 SPAST ATL1
45 motor neuron disease 9.5 SPAST PNPLA6 ARL6IP1
46 spastic paraplegia 37, autosomal dominant 9.5 WASHC5 SLC33A1 ERLIN2
47 hereditary spastic paraplegia 72 9.5 SPG11 SPAST ERLIN2 ATL1 ARL6IP1
48 spastic paraplegia 46, autosomal recessive 9.5 SPG11 SPAST PNPLA6 GBA2 FA2H
49 hereditary spastic paraplegia 23 9.5 WASHC5 SPG11 SLC33A1
50 spastic paraplegia 32, autosomal recessive 9.5 WASHC5 SPG11 SLC33A1

Graphical network of the top 20 diseases related to Spastic Paraplegia 43, Autosomal Recessive:



Diseases related to Spastic Paraplegia 43, Autosomal Recessive

Symptoms & Phenotypes for Spastic Paraplegia 43, Autosomal Recessive

Human phenotypes related to Spastic Paraplegia 43, Autosomal Recessive:

58 31 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 babinski sign 58 31 hallmark (90%) Very frequent (99-80%) HP:0003487
2 distal amyotrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003693
3 distal muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0002460
4 difficulty walking 58 31 hallmark (90%) Very frequent (99-80%) HP:0002355
5 poor fine motor coordination 58 31 hallmark (90%) Very frequent (99-80%) HP:0007010
6 spastic paraparesis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002313
7 spastic gait 58 31 hallmark (90%) Very frequent (99-80%) HP:0002064
8 pes cavus 58 31 frequent (33%) Frequent (79-30%) HP:0001761
9 impaired vibratory sensation 58 31 frequent (33%) Frequent (79-30%) HP:0002495
10 ankle flexion contracture 58 31 frequent (33%) Frequent (79-30%) HP:0006466
11 knee flexion contracture 58 31 frequent (33%) Frequent (79-30%) HP:0006380
12 flexion contracture of finger 58 31 frequent (33%) Frequent (79-30%) HP:0012785
13 generalized hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001290
14 brisk reflexes 58 31 frequent (33%) Frequent (79-30%) HP:0001348
15 absent achilles reflex 58 31 frequent (33%) Frequent (79-30%) HP:0003438
16 hyperactive patellar reflex 58 31 frequent (33%) Frequent (79-30%) HP:0007083
17 spasticity 58 31 Frequent (79-30%) HP:0001257
18 muscle weakness 31 HP:0001324
19 gait disturbance 31 HP:0001288
20 hyperreflexia 31 HP:0001347
21 dysarthria 31 HP:0001260
22 hyporeflexia 31 HP:0001265
23 spastic paraplegia 31 HP:0001258
24 distal sensory impairment 31 HP:0002936

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
spasticity
hyperreflexia
extensor plantar responses
gait difficulties
difficulties in fine movement of the hands
more
Neurologic Peripheral Nervous System:
hyporeflexia
distal sensory impairment

Skeletal Hands:
contractures of the fingers
atrophy of the intrinsic hand muscles

Skeletal Feet:
pes cavus

Skeletal Limbs:
contractures of the ankles
contractures of the knees

Muscle Soft Tissue:
distal muscle atrophy, upper and lower limbs
distal muscle weakness, upper and lower limbs

Clinical features from OMIM:

615043

UMLS symptoms related to Spastic Paraplegia 43, Autosomal Recessive:


muscle spasticity

MGI Mouse Phenotypes related to Spastic Paraplegia 43, Autosomal Recessive:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.28 ARL6IP1 ATL1 FA2H PLA2G6 PNPLA6 SLC33A1

Drugs & Therapeutics for Spastic Paraplegia 43, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 43, Autosomal Recessive

Genetic Tests for Spastic Paraplegia 43, Autosomal Recessive

Genetic tests related to Spastic Paraplegia 43, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Spastic Paraplegia 43, Autosomal Recessive 29 C19orf12

Anatomical Context for Spastic Paraplegia 43, Autosomal Recessive

Publications for Spastic Paraplegia 43, Autosomal Recessive

Articles related to Spastic Paraplegia 43, Autosomal Recessive:

# Title Authors PMID Year
1
Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12. 61 6 56
23857908 2013
2
Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19. 61 6 56
20039086 2010
3
Hereditary Spastic Paraplegia Overview 6
20301682 2000
4
Clinical and genetic spectrum of an orphan disease MPAN: a series with new variants and a novel phenotype. 61
31804703 2019
5
Mutational analysis of the CYP7B1, PNPLA6 and C19orf12 genes in autosomal recessive hereditary spastic paraplegia. 61
26714052 2016

Variations for Spastic Paraplegia 43, Autosomal Recessive

ClinVar genetic disease variations for Spastic Paraplegia 43, Autosomal Recessive:

6 (show all 26) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 C19orf12 NM_001256047.1(C19orf12):c.161G>A (p.Gly54Glu)SNV Pathogenic 617481 rs752450983 19:30193884-30193884 19:29702977-29702977
2 C19orf12 NC_000019.10:g.(?_29702692)_(29714949_?)deldeletion Pathogenic 831602 19:30193599-30205856
3 C19orf12 NM_031448.6(C19orf12):c.171_181del (p.Gly58fs)deletion Pathogenic 31155 rs515726204 19:30193864-30193874 19:29702957-29702967
4 C19orf12 NM_001256047.1(C19orf12):c.172G>A (p.Gly58Arg)SNV Pathogenic/Likely pathogenic 31157 rs515726205 19:30193873-30193873 19:29702966-29702966
5 C19orf12 NM_001256047.1(C19orf12):c.154G>C (p.Ala52Pro)SNV Likely pathogenic 88865 rs376103979 19:30199167-30199167 19:29708260-29708260
6 C19orf12 NM_001256047.1(C19orf12):c.391A>G (p.Lys131Glu)SNV Conflicting interpretations of pathogenicity 31158 rs146170087 19:30193654-30193654 19:29702747-29702747
7 C19orf12 NM_031448.6(C19orf12):c.385G>A (p.Val129Ile)SNV Uncertain significance 862989 19:30193660-30193660 19:29702753-29702753
8 C19orf12 NM_031448.6(C19orf12):c.376G>A (p.Val126Met)SNV Uncertain significance 849496 19:30193669-30193669 19:29702762-29702762
9 C19orf12 NM_031448.6(C19orf12):c.163G>C (p.Gly55Arg)SNV Uncertain significance 855673 19:30193882-30193882 19:29702975-29702975
10 C19orf12 NM_001256047.1(C19orf12):c.277G>A (p.Ala93Thr)SNV Uncertain significance 661004 19:30193768-30193768 19:29702861-29702861
11 C19orf12 NM_001256047.1(C19orf12):c.-11+661G>ASNV Uncertain significance 642357 19:30205809-30205809 19:29714902-29714902
12 C19orf12 NM_001256047.1(C19orf12):c.270del (p.Asn90fs)deletion Uncertain significance 469658 rs1555714836 19:30193775-30193775 19:29702868-29702868
13 C19orf12 NM_001256047.1(C19orf12):c.121G>A (p.Val41Ile)SNV Uncertain significance 469655 rs148797643 19:30199200-30199200 19:29708293-29708293
14 C19orf12 NM_001256047.1(C19orf12):c.282dup (p.Ile95fs)duplication Uncertain significance 469659 rs1555714827 19:30193762-30193763 19:29702855-29702856
15 C19orf12 NM_001256047.1(C19orf12):c.204A>T (p.Gly68=)SNV Uncertain significance 469656 rs1555714878 19:30193841-30193841 19:29702934-29702934
16 C19orf12 NM_001256047.1(C19orf12):c.313G>A (p.Val105Met)SNV Uncertain significance 286392 rs146492790 19:30193732-30193732 19:29702825-29702825
17 C19orf12 NM_001256047.1(C19orf12):c.68C>T (p.Ala23Val)SNV Uncertain significance 328731 rs544395324 19:30199253-30199253 19:29708346-29708346
18 C19orf12 NM_001256047.1(C19orf12):c.170T>C (p.Val57Ala)SNV Uncertain significance 579842 rs766939148 19:30193875-30193875 19:29702968-29702968
19 C19orf12 NM_001256047.1(C19orf12):c.413A>G (p.Gln138Arg)SNV Likely benign 380881 rs73023451 19:30193632-30193632 19:29702725-29702725
20 C19orf12 NM_001256047.1(C19orf12):c.-10-5C>TSNV Likely benign 389609 rs546546532 19:30199335-30199335 19:29708428-29708428
21 C19orf12 NM_001256047.1(C19orf12):c.249C>T (p.Ala83=)SNV Likely benign 513585 rs762174442 19:30193796-30193796 19:29702889-29702889
22 C19orf12 NM_001256047.1(C19orf12):c.123C>T (p.Val41=)SNV Likely benign 537393 rs374520604 19:30199198-30199198 19:29708291-29708291
23 C19orf12 NM_031448.6(C19orf12):c.165G>A (p.Gly55=)SNV Likely benign 701163 19:30193880-30193880 19:29702973-29702973
24 C19orf12 NM_001256047.1(C19orf12):c.216G>A (p.Pro72=)SNV Benign/Likely benign 238220 rs202054484 19:30193829-30193829 19:29702922-29702922
25 C19orf12 NM_001256047.1(C19orf12):c.69G>A (p.Ala23=)SNV Benign/Likely benign 238219 rs201118405 19:30199252-30199252 19:29708345-29708345
26 C19orf12 NM_001256047.1(C19orf12):c.392A>C (p.Lys131Thr)SNV Benign 128538 rs79915936 19:30193653-30193653 19:29702746-29702746

UniProtKB/Swiss-Prot genetic disease variations for Spastic Paraplegia 43, Autosomal Recessive:

73
# Symbol AA change Variation ID SNP ID
1 C19orf12 p.Ala63Pro VAR_070668 rs376103979

Expression for Spastic Paraplegia 43, Autosomal Recessive

Search GEO for disease gene expression data for Spastic Paraplegia 43, Autosomal Recessive.

Pathways for Spastic Paraplegia 43, Autosomal Recessive

GO Terms for Spastic Paraplegia 43, Autosomal Recessive

Cellular components related to Spastic Paraplegia 43, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.06 VPS37A SPAST SLC33A1 PNPLA6 PLA2G6 GBA2
2 cytosol GO:0005829 9.91 WASHC5 VPS37A SPG11 SPAST PLA2G6 GBA2
3 integral component of membrane GO:0016021 9.85 SPAST SLC33A1 PNPLA6 PLA2G6 GBA2 FA2H
4 endoplasmic reticulum membrane GO:0005789 9.56 SPAST SLC33A1 PNPLA6 GBA2 FA2H ERLIN2
5 endoplasmic reticulum GO:0005783 9.32 WASHC5 SPAST SLC33A1 PNPLA6 GBA2 FA2H

Biological processes related to Spastic Paraplegia 43, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.35 PNPLA6 PLA2G6 GBA2 FA2H ERLIN2
2 lysosome organization GO:0007040 9.16 WASHC5 SPG11
3 endoplasmic reticulum tubular network membrane organization GO:1990809 8.62 ATL1 ARL6IP1

Molecular functions related to Spastic Paraplegia 43, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lysophospholipase activity GO:0004622 8.96 PNPLA6 PLA2G6
2 phosphatidyl phospholipase B activity GO:0102545 8.62 PNPLA6 PLA2G6

Sources for Spastic Paraplegia 43, Autosomal Recessive

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
Content
Loading form....