SPG43
MCID: SPS130
MIFTS: 42

Spastic Paraplegia 43, Autosomal Recessive (SPG43)

Categories: Bone diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle 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 57 72 29 13 6 70
Spg43 57 12 58 72
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®:

57 (Updated 20-May-2021)
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® 57 615043
OMIM Phenotypic Series 57 PS303350
MeSH 44 D015419
ICD10 32 G11.4
ICD10 via Orphanet 33 G11.4
Orphanet 58 ORPHA320370
UMLS 70 C2680446

Summaries for Spastic Paraplegia 43, Autosomal Recessive

UniProtKB/Swiss-Prot : 72 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). Affiliated tissues include eye and brain, and related phenotypes are babinski sign and spastic paraparesis

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

OMIM® : 57 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) (Updated 20-May-2021)

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
Spastic Paraplegia 83, 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 71)
# Related Disease Score Top Affiliating Genes
1 neurodegeneration with brain iron accumulation 4 29.8 PLA2G6 FA2H C19orf12
2 neurodegeneration with brain iron accumulation 29.4 SPG11 PLA2G6 FA2H C19orf12
3 paraplegia 27.2 VPS37A SPG11 SPAST SLC33A1 PNPLA6 GBA2
4 hereditary spastic paraplegia 26.5 VPS37A SPG11 SPAST SLC33A1 PNPLA6 PLA2G6
5 complex hereditary spastic paraplegia 10.1 SPG11 FA2H
6 mitochondrial membrane protein-associated neurodegeneration 10.1
7 spastic paraplegia 57, autosomal recessive 10.1 SPG11 ERLIN2
8 spastic paraplegia 37, autosomal dominant 10.0 SLC33A1 ERLIN2
9 pure hereditary spastic paraplegia 10.0 SPAST ERLIN2 ATL1
10 spastic paraplegia 5a, autosomal recessive 10.0 SPG11 SPAST
11 neuropathy, hereditary sensory, type id 10.0 SPAST ATL1
12 spastic paraplegia 47, autosomal recessive 10.0 SPG11 SPAST ERLIN2
13 neuropathy, hereditary sensory, type iic 10.0 SPG11 FA2H ERLIN2
14 spastic paraplegia 18, autosomal recessive 10.0 SPG11 FA2H ERLIN2
15 hereditary spastic paraplegia 23 10.0 SPG11 SLC33A1
16 spastic paraplegia 32, autosomal recessive 10.0 SPG11 SLC33A1
17 spastic paraplegia 5a 10.0 GBA2 C19orf12
18 spastic paraplegia 20, autosomal recessive 10.0 SPAST PNPLA6 ATL1
19 spastic paraplegia 28, autosomal recessive 10.0 SPG11 PNPLA6 FA2H
20 spastic paraplegia 33, autosomal dominant 10.0 SPG11 SPAST ATL1
21 spastic paraplegia 16, x-linked 9.9 SPG11 SPAST SLC33A1
22 spastic paraplegia 10, autosomal dominant 9.9 SPG11 SPAST ATL1
23 spastic paraplegia 44, autosomal recessive 9.9 SPG11 SLC33A1 ERLIN2
24 spastic paraplegia 3, autosomal dominant 9.9 SPG11 SPAST ATL1
25 spastic paraplegia 76, autosomal recessive 9.9 SPG11 GBA2
26 spastic paraplegia 7, autosomal recessive 9.9 SPG11 PNPLA6
27 spastic paraplegia, optic atrophy, and neuropathy 9.9 VPS37A PNPLA6 ATL1
28 spinocerebellar ataxia, autosomal recessive 24 9.8 PNPLA6 GBA2 FA2H
29 spastic paraplegia 11, autosomal recessive 9.8 SPG11 SPAST
30 spastic paraplegia 61, autosomal recessive 9.8 SPG11 SPAST ATL1 ARL6IP1
31 spastic paraplegia 12, autosomal dominant 9.8 SPG11 SPAST ATL1 ARL6IP1
32 spastic paraplegia 31, autosomal dominant 9.8 SPG11 SPAST ATL1 ARL6IP1
33 acrocephalopolysyndactyly type iii 9.8 PLA2G6 FA2H C19orf12
34 oromandibular dystonia 9.8 PLA2G6 FA2H C19orf12
35 neurodegeneration with brain iron accumulation 2b 9.8 PLA2G6 FA2H C19orf12
36 spastic ataxia 9.8 SPG11 PNPLA6 GBA2
37 spastic paraplegia 53, autosomal recessive 9.8 VPS37A SLC33A1 ATL1
38 neurodegeneration with brain iron accumulation 5 9.8 PLA2G6 FA2H C19orf12
39 neurodegeneration with brain iron accumulation 6 9.8 PLA2G6 FA2H C19orf12
40 neurodegeneration with brain iron accumulation 3 9.8 PLA2G6 FA2H C19orf12
41 neurodegeneration with brain iron accumulation 2a 9.8 PLA2G6 FA2H C19orf12
42 motor neuron disease 9.8 SPAST PNPLA6 ATL1 ARL6IP1
43 neurodegeneration with brain iron accumulation 1 9.8 PLA2G6 FA2H C19orf12
44 kufor-rakeb syndrome 9.8 PLA2G6 FA2H C19orf12
45 neuroaxonal dystrophy 9.7 PLA2G6 FA2H C19orf12
46 early-onset parkinson's disease 9.7 PLA2G6 FA2H C19orf12
47 spastic paraplegia 14, autosomal recessive 9.7 SPG11 SPAST SLC33A1 ATL1
48 spastic paraplegia 6, autosomal dominant 9.7 SPG11 SPAST SLC33A1 ATL1
49 spastic paraplegia 13, autosomal dominant 9.7 SPG11 SPAST SLC33A1 ATL1
50 spastic paraplegia 8, autosomal dominant 9.7 SPG11 SPAST SLC33A1 ATL1

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 spastic paraparesis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002313
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 gait 58 31 hallmark (90%) Very frequent (99-80%) HP:0002064
7 distal amyotrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003693
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 hyperreflexia 31 HP:0001347
19 dysarthria 31 HP:0001260
20 gait disturbance 31 HP:0001288
21 muscle weakness 31 HP:0001324
22 hyporeflexia 31 HP:0001265
23 spastic paraplegia 31 HP:0001258
24 distal sensory impairment 31 HP:0002936

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

UMLS symptoms related to Spastic Paraplegia 43, Autosomal Recessive:


muscle spasticity

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.23 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

MalaCards organs/tissues related to Spastic Paraplegia 43, Autosomal Recessive:

40
Eye, Brain

Publications for Spastic Paraplegia 43, Autosomal Recessive

Articles related to Spastic Paraplegia 43, Autosomal Recessive:

(show all 16)
# Title Authors PMID Year
1
Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12. 57 6 61
23857908 2013
2
Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19. 6 61 57
20039086 2010
3
Autosomal dominant mitochondrial membrane protein-associated neurodegeneration (MPAN). 6
31087512 2019
4
Novel case of neurodegeneration with brain iron accumulation 4 (NBIA4) caused by a pathogenic variant affecting splicing. 6
30392167 2018
5
Mitochondrial membrane protein-associated neurodegeneration: a case report and literature review. 6
30088953 2018
6
A 30-year history of MPAN case from Russia. 6
28641177 2017
7
C19orf12 gene mutations in patients with neurodegeneration with brain iron accumulation. 6
25962551 2015
8
Analysis of the C19orf12 and WDR45 genes in patients with neurodegeneration with brain iron accumulation. 6
25592411 2015
9
Clinical features of neurodegeneration with brain iron accumulation due to a C19orf12 gene mutation. 6
23494994 2013
10
Mitochondrial membrane protein associated neurodegenration: a novel variant of neurodegeneration with brain iron accumulation. 6
23436634 2013
11
PANK2 and C19orf12 mutations are common causes of neurodegeneration with brain iron accumulation. 6
23166001 2013
12
New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN. 6
23269600 2013
13
Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation. 6
21981780 2011
14
SPG43 and ALS-like syndrome in the same family due to compound heterozygous mutations of the C19orf12 gene: a case description and brief review. 61
33394258 2021
15
Clinical and genetic spectrum of an orphan disease MPAN: a series with new variants and a novel phenotype. 61
31804703 2019
16
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 32)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 C19orf12 NC_000019.10:g.(?_29702692)_(29714949_?)del Deletion Pathogenic 831602 GRCh37: 19:30193599-30205856
GRCh38:
2 C19orf12 NM_001031726.3(C19orf12):c.194G>A (p.Gly65Glu) SNV Pathogenic 617481 rs752450983 GRCh37: 19:30193884-30193884
GRCh38: 19:29702977-29702977
3 C19orf12 NM_031448.6(C19orf12):c.171_181del (p.Gly58fs) Deletion Pathogenic 31155 rs515726204 GRCh37: 19:30193864-30193874
GRCh38: 19:29702957-29702967
4 C19orf12 NM_001031726.3(C19orf12):c.187G>C (p.Ala63Pro) SNV Pathogenic 88865 rs376103979 GRCh37: 19:30199167-30199167
GRCh38: 19:29708260-29708260
5 C19orf12 NM_001031726.3(C19orf12):c.205G>A (p.Gly69Arg) SNV Pathogenic 31157 rs515726205 GRCh37: 19:30193873-30193873
GRCh38: 19:29702966-29702966
6 C19orf12 NM_031448.6(C19orf12):c.211_212dup (p.Pro72fs) Duplication Likely pathogenic 948098 GRCh37: 19:30193832-30193833
GRCh38: 19:29702925-29702926
7 C19orf12 NM_001256047.1(C19orf12):c.204A>T (p.Gly68=) SNV Uncertain significance 469656 rs1555714878 GRCh37: 19:30193841-30193841
GRCh38: 19:29702934-29702934
8 C19orf12 NM_001031726.3(C19orf12):c.346G>A (p.Val116Met) SNV Uncertain significance 286392 rs146492790 GRCh37: 19:30193732-30193732
GRCh38: 19:29702825-29702825
9 C19orf12 NM_001031726.3(C19orf12):c.157G>A (p.Gly53Arg) SNV Uncertain significance 183298 rs200133991 GRCh37: 19:30199197-30199197
GRCh38: 19:29708290-29708290
10 C19orf12 NM_031448.6(C19orf12):c.234G>A (p.Met78Ile) SNV Uncertain significance 968088 GRCh37: 19:30193811-30193811
GRCh38: 19:29702904-29702904
11 C19orf12 NM_001031726.3(C19orf12):c.101C>T (p.Ala34Val) SNV Uncertain significance 328731 rs544395324 GRCh37: 19:30199253-30199253
GRCh38: 19:29708346-29708346
12 C19orf12 NM_031448.6(C19orf12):c.385G>A (p.Val129Ile) SNV Uncertain significance 862989 GRCh37: 19:30193660-30193660
GRCh38: 19:29702753-29702753
13 C19orf12 NM_001256047.1(C19orf12):c.-11+661G>A SNV Uncertain significance 642357 rs1339985700 GRCh37: 19:30205809-30205809
GRCh38: 19:29714902-29714902
14 C19orf12 NM_001256047.1(C19orf12):c.170T>C (p.Val57Ala) SNV Uncertain significance 579842 rs766939148 GRCh37: 19:30193875-30193875
GRCh38: 19:29702968-29702968
15 C19orf12 NM_001256047.1(C19orf12):c.282dup (p.Ile95fs) Duplication Uncertain significance 469659 rs1555714827 GRCh37: 19:30193762-30193763
GRCh38: 19:29702855-29702856
16 C19orf12 NM_031448.6(C19orf12):c.326C>T (p.Ala109Val) SNV Uncertain significance 1008373 GRCh37: 19:30193719-30193719
GRCh38: 19:29702812-29702812
17 C19orf12 NM_031448.6(C19orf12):c.376G>A (p.Val126Met) SNV Uncertain significance 849496 GRCh37: 19:30193669-30193669
GRCh38: 19:29702762-29702762
18 C19orf12 NM_031448.6(C19orf12):c.163G>C (p.Gly55Arg) SNV Uncertain significance 855673 GRCh37: 19:30193882-30193882
GRCh38: 19:29702975-29702975
19 C19orf12 NC_000019.9:g.(?_30193609)_(30205846_?)dup Duplication Uncertain significance 1014734 GRCh37: 19:30193609-30205846
GRCh38:
20 C19orf12 NM_001031726.3(C19orf12):c.154G>A (p.Val52Ile) SNV Uncertain significance 469655 rs148797643 GRCh37: 19:30199200-30199200
GRCh38: 19:29708293-29708293
21 C19orf12 NM_001256047.1(C19orf12):c.277G>A (p.Ala93Thr) SNV Uncertain significance 661004 rs964208776 GRCh37: 19:30193768-30193768
GRCh38: 19:29702861-29702861
22 C19orf12 NM_001256047.1(C19orf12):c.270del (p.Asn90fs) Deletion Uncertain significance 469658 rs1555714836 GRCh37: 19:30193775-30193775
GRCh38: 19:29702868-29702868
23 C19orf12 NM_001031726.3(C19orf12):c.446A>G (p.Gln149Arg) SNV Likely benign 380881 rs73023451 GRCh37: 19:30193632-30193632
GRCh38: 19:29702725-29702725
24 C19orf12 NM_001256047.1(C19orf12):c.123C>T (p.Val41=) SNV Likely benign 537393 rs374520604 GRCh37: 19:30199198-30199198
GRCh38: 19:29708291-29708291
25 C19orf12 NM_001031726.3(C19orf12):c.282C>T (p.Ala94=) SNV Likely benign 513585 rs762174442 GRCh37: 19:30193796-30193796
GRCh38: 19:29702889-29702889
26 C19orf12 NM_001031726.3(C19orf12):c.24-5C>T SNV Likely benign 389609 rs546546532 GRCh37: 19:30199335-30199335
GRCh38: 19:29708428-29708428
27 C19orf12 NM_031448.6(C19orf12):c.165G>A (p.Gly55=) SNV Likely benign 701163 rs201194487 GRCh37: 19:30193880-30193880
GRCh38: 19:29702973-29702973
28 C19orf12 NM_001031726.3(C19orf12):c.424A>G (p.Lys142Glu) SNV Benign/Likely benign 31158 rs146170087 GRCh37: 19:30193654-30193654
GRCh38: 19:29702747-29702747
29 C19orf12 NM_001031726.3(C19orf12):c.249G>A (p.Pro83=) SNV Benign 238220 rs202054484 GRCh37: 19:30193829-30193829
GRCh38: 19:29702922-29702922
30 C19orf12 NM_031448.5(C19orf12):c.69G>A (p.Ala23=) SNV Benign 238219 rs201118405 GRCh37: 19:30199252-30199252
GRCh38: 19:29708345-29708345
31 C19orf12 NM_001031726.3(C19orf12):c.425A>C (p.Lys142Thr) SNV Benign 128538 rs79915936 GRCh37: 19:30193653-30193653
GRCh38: 19:29702746-29702746
32 C19orf12 NM_001031726.3(C19orf12):c.424A>G (p.Lys142Glu) SNV not provided 31158 rs146170087 GRCh37: 19:30193654-30193654
GRCh38: 19:29702747-29702747

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

72
# 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 integral component of membrane GO:0016021 9.85 SPAST SLC33A1 PNPLA6 PLA2G6 GBA2 FA2H
3 endoplasmic reticulum membrane GO:0005789 9.56 SPAST SLC33A1 PNPLA6 GBA2 FA2H ERLIN2
4 endoplasmic reticulum GO:0005783 9.28 SPAST SLC33A1 PNPLA6 GBA2 FA2H ERLIN2
5 endoplasmic reticulum tubular network GO:0071782 9.26 SPAST ATL1

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 sphingolipid metabolic process GO:0006665 9.16 GBA2 FA2H
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
20 GARD
28 GO
29 GTR
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