SPG43
MCID: SPS130
MIFTS: 32

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 57 74 29 13 6 72
Spg43 57 12 59 74
Autosomal Recessive Spastic Paraplegia Type 43 12 59
Hereditary Spastic Paraplegia 43 12 15
Paraplegia, Spastic, Type 43, Autosomal Recessive 40
Autosomal Recessive Spastic Paraplegia 43 12

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive spastic paraplegia type 43
Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood;

OMIM:

57
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:

32
spastic paraplegia 43, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity slow progression


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110795
MeSH 44 D015419
ICD10 33 G11.4
ICD10 via Orphanet 34 G11.4
Orphanet 59 ORPHA320370
UMLS 72 C2680446

Summaries for Spastic Paraplegia 43, Autosomal Recessive

UniProtKB/Swiss-Prot : 74 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 paraplegia and hereditary spastic paraplegia, 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 poor fine motor coordination

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)

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 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 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 47
Spastic Paraplegia 51 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:

# Related Disease Score Top Affiliating Genes
1 paraplegia 29.6 PNPLA6 CYP7B1
2 hereditary spastic paraplegia 28.7 PNPLA6 CYP7B1 C19orf12
3 neurodegeneration with brain iron accumulation 4 10.2
4 neurodegeneration with brain iron accumulation 10.2
5 mitochondrial membrane protein-associated neurodegeneration 10.2
6 spinocerebellar ataxia, autosomal recessive 21 9.5 PNPLA6 CYP7B1
7 spastic paraplegia 76, autosomal recessive 9.4 PNPLA6 CYP7B1
8 spastic paraplegia 73, autosomal dominant 9.2 PNPLA6 CYP7B1
9 spastic paraplegia 5a, autosomal recessive 9.0 PNPLA6 CYP7B1 C19orf12

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:

59 32 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 babinski sign 59 32 hallmark (90%) Very frequent (99-80%) HP:0003487
2 poor fine motor coordination 59 32 hallmark (90%) Very frequent (99-80%) HP:0007010
3 difficulty walking 59 32 hallmark (90%) Very frequent (99-80%) HP:0002355
4 distal amyotrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003693
5 spastic gait 59 32 hallmark (90%) Very frequent (99-80%) HP:0002064
6 distal muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0002460
7 spastic paraparesis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002313
8 generalized hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001290
9 pes cavus 59 32 frequent (33%) Frequent (79-30%) HP:0001761
10 brisk reflexes 59 32 frequent (33%) Frequent (79-30%) HP:0001348
11 knee flexion contracture 59 32 frequent (33%) Frequent (79-30%) HP:0006380
12 flexion contracture of finger 59 32 frequent (33%) Frequent (79-30%) HP:0012785
13 absent achilles reflex 59 32 frequent (33%) Frequent (79-30%) HP:0003438
14 impaired vibratory sensation 59 32 frequent (33%) Frequent (79-30%) HP:0002495
15 hyperactive patellar reflex 59 32 frequent (33%) Frequent (79-30%) HP:0007083
16 ankle flexion contracture 32 frequent (33%) HP:0006466
17 spasticity 59 32 Frequent (79-30%) HP:0001257
18 dysarthria 32 HP:0001260
19 gait disturbance 32 HP:0001288
20 muscle weakness 32 HP:0001324
21 hyperreflexia 32 HP:0001347
22 hyporeflexia 32 HP:0001265
23 spastic paraplegia 32 HP:0001258
24 ankle contracture 59 Frequent (79-30%)
25 distal sensory impairment 32 HP:0002936

Symptoms via clinical synopsis from OMIM:

57
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

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. 38 8 71
23857908 2013
2
Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19. 38 8 71
20039086 2010
3
Hereditary Spastic Paraplegia Overview 71
20301682 2000
4
Mutational analysis of the CYP7B1, PNPLA6 and C19orf12 genes in autosomal recessive hereditary spastic paraplegia. 38
26714052 2016

Variations for Spastic Paraplegia 43, Autosomal Recessive

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

6 (show all 19)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 C19orf12 NM_001256047.1(C19orf12): c.172G> A (p.Gly58Arg) single nucleotide variant Pathogenic rs515726205 19:30193873-30193873 19:29702966-29702966
2 C19orf12 NM_001256047.1(C19orf12): c.161G> A (p.Gly54Glu) single nucleotide variant Pathogenic rs752450983 19:30193884-30193884 19:29702977-29702977
3 C19orf12 NM_001256047.1(C19orf12): c.154G> C (p.Ala52Pro) single nucleotide variant Likely pathogenic rs376103979 19:30199167-30199167 19:29708260-29708260
4 C19orf12 NM_001256047.1(C19orf12): c.216G> A (p.Pro72=) single nucleotide variant Conflicting interpretations of pathogenicity rs202054484 19:30193829-30193829 19:29702922-29702922
5 C19orf12 NM_001256047.1(C19orf12): c.69G> A (p.Ala23=) single nucleotide variant Conflicting interpretations of pathogenicity rs201118405 19:30199252-30199252 19:29708345-29708345
6 C19orf12 NM_001256047.1(C19orf12): c.391A> G (p.Lys131Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs146170087 19:30193654-30193654 19:29702747-29702747
7 C19orf12 NM_001256047.1(C19orf12): c.68C> T (p.Ala23Val) single nucleotide variant Uncertain significance rs544395324 19:30199253-30199253 19:29708346-29708346
8 C19orf12 NM_001256047.1(C19orf12): c.121G> A (p.Val41Ile) single nucleotide variant Uncertain significance rs148797643 19:30199200-30199200 19:29708293-29708293
9 C19orf12 NM_001256047.1(C19orf12): c.282dup (p.Ile95fs) duplication Uncertain significance rs1555714827 19:30193763-30193763 19:29702856-29702856
10 C19orf12 NM_001256047.1(C19orf12): c.204A> T (p.Gly68=) single nucleotide variant Uncertain significance rs1555714878 19:30193841-30193841 19:29702934-29702934
11 C19orf12 NM_001256047.1(C19orf12): c.313G> A (p.Val105Met) single nucleotide variant Uncertain significance rs146492790 19:30193732-30193732 19:29702825-29702825
12 C19orf12 NM_001256047.1(C19orf12): c.170T> C (p.Val57Ala) single nucleotide variant Uncertain significance 19:30193875-30193875 19:29702968-29702968
13 C19orf12 NM_001256047.1(C19orf12): c.277G> A (p.Ala93Thr) single nucleotide variant Uncertain significance 19:30193768-30193768 19:29702861-29702861
14 C19orf12 NM_001256047.1(C19orf12): c.-11+661G> A single nucleotide variant Uncertain significance 19:30205809-30205809 19:29714902-29714902
15 C19orf12 NM_001256047.1(C19orf12): c.270del (p.Asn90fs) deletion Uncertain significance rs1555714836 19:30193775-30193775 19:29702868-29702868
16 C19orf12 NM_001256047.1(C19orf12): c.123C> T (p.Val41=) single nucleotide variant Likely benign rs374520604 19:30199198-30199198 19:29708291-29708291
17 C19orf12 NM_001256047.1(C19orf12): c.413A> G (p.Gln138Arg) single nucleotide variant Likely benign rs73023451 19:30193632-30193632 19:29702725-29702725
18 C19orf12 NM_001256047.1(C19orf12): c.238C> T (p.Leu80=) single nucleotide variant Likely benign rs753364652 19:30193807-30193807 19:29702900-29702900
19 C19orf12 NM_001256047.1(C19orf12): c.392A> C (p.Lys131Thr) single nucleotide variant Benign/Likely benign rs79915936 19:30193653-30193653 19:29702746-29702746

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

74
# 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 endoplasmic reticulum GO:0005783 8.8 PNPLA6 CYP7B1 C19orf12

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 8.62 PNPLA6 CYP7B1

Sources for Spastic Paraplegia 43, Autosomal Recessive

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