MCID: SPS130
MIFTS: 31

Spastic Paraplegia 43, Autosomal Recessive

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Eye diseases, Gastrointestinal diseases, Bone diseases, Mental diseases, Metabolic 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 75 29 13 6 73
Spg43 57 12 59 75
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:
Onset and clinical course variable expressivity slow progression
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Spastic Paraplegia 43, Autosomal Recessive

UniProtKB/Swiss-Prot : 75 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 spasticity and babinski sign

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 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 Hereditary Spastic Paraplegia
Hereditary Spastic Paraplegia 51 Hereditary Spastic Paraplegia 72
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 51
Spastic Paraplegia 5a Spastic Paraplegia 5b
Spastic Paraplegia 6 Spastic Paraplegia 9
Autosomal Recessive Spastic Paraplegia Type 60 Autosomal Recessive Spastic Paraplegia Type 59
Autosomal Recessive Spastic Paraplegia Type 68 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

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 28.4 CYP7B1 PNPLA6
2 hereditary spastic paraplegia 27.9 C19orf12 CYP7B1 PNPLA6
3 spasticity 9.9
4 spastic paraplegia 73, autosomal dominant 9.3 CYP7B1 PNPLA6
5 spastic paraplegia 76, autosomal recessive 9.2 CYP7B1 PNPLA6
6 spastic paraplegia 5a, autosomal recessive 8.7 C19orf12 CYP7B1 PNPLA6

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

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

Human phenotypes related to Spastic Paraplegia 43, Autosomal Recessive:

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

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

Variations for Spastic Paraplegia 43, Autosomal Recessive

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

75
# Symbol AA change Variation ID SNP ID
1 C19orf12 p.Ala63Pro VAR_070668 rs376103979

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

6
(show all 24)
# Gene Variation Type Significance SNP ID Assembly Location
1 C19orf12 NM_001031726.3(C19orf12): c.187G> C (p.Ala63Pro) single nucleotide variant Likely pathogenic rs376103979 GRCh37 Chromosome 19, 30199167: 30199167
2 C19orf12 NM_001031726.3(C19orf12): c.187G> C (p.Ala63Pro) single nucleotide variant Likely pathogenic rs376103979 GRCh38 Chromosome 19, 29708260: 29708260
3 C19orf12 NM_001031726.3(C19orf12): c.205G> A (p.Gly69Arg) single nucleotide variant Pathogenic rs515726205 GRCh37 Chromosome 19, 30193873: 30193873
4 C19orf12 NM_001031726.3(C19orf12): c.205G> A (p.Gly69Arg) single nucleotide variant Pathogenic rs515726205 GRCh38 Chromosome 19, 29702966: 29702966
5 C19orf12 NM_001031726.3(C19orf12): c.249G> A (p.Pro83=) single nucleotide variant Conflicting interpretations of pathogenicity rs202054484 GRCh38 Chromosome 19, 29702922: 29702922
6 C19orf12 NM_001031726.3(C19orf12): c.249G> A (p.Pro83=) single nucleotide variant Conflicting interpretations of pathogenicity rs202054484 GRCh37 Chromosome 19, 30193829: 30193829
7 C19orf12 NM_001031726.3(C19orf12): c.102G> A (p.Ala34=) single nucleotide variant Conflicting interpretations of pathogenicity rs201118405 GRCh37 Chromosome 19, 30199252: 30199252
8 C19orf12 NM_001031726.3(C19orf12): c.102G> A (p.Ala34=) single nucleotide variant Conflicting interpretations of pathogenicity rs201118405 GRCh38 Chromosome 19, 29708345: 29708345
9 C19orf12 NM_001031726.3(C19orf12): c.346G> A (p.Val116Met) single nucleotide variant Uncertain significance rs146492790 GRCh37 Chromosome 19, 30193732: 30193732
10 C19orf12 NM_001031726.3(C19orf12): c.346G> A (p.Val116Met) single nucleotide variant Uncertain significance rs146492790 GRCh38 Chromosome 19, 29702825: 29702825
11 C19orf12 NM_001031726.3(C19orf12): c.446A> G (p.Gln149Arg) single nucleotide variant Likely benign rs73023451 GRCh37 Chromosome 19, 30193632: 30193632
12 C19orf12 NM_001031726.3(C19orf12): c.446A> G (p.Gln149Arg) single nucleotide variant Likely benign rs73023451 GRCh38 Chromosome 19, 29702725: 29702725
13 C19orf12 NM_001031726.3(C19orf12): c.303delC (p.Asn101Lysfs) deletion Uncertain significance GRCh38 Chromosome 19, 29702868: 29702868
14 C19orf12 NM_001031726.3(C19orf12): c.303delC (p.Asn101Lysfs) deletion Uncertain significance GRCh37 Chromosome 19, 30193775: 30193775
15 C19orf12 NM_001031726.3(C19orf12): c.271C> T (p.Leu91=) single nucleotide variant Likely benign rs753364652 GRCh38 Chromosome 19, 29702900: 29702900
16 C19orf12 NM_001031726.3(C19orf12): c.271C> T (p.Leu91=) single nucleotide variant Likely benign rs753364652 GRCh37 Chromosome 19, 30193807: 30193807
17 C19orf12 NM_001031726.3(C19orf12): c.154G> A (p.Val52Ile) single nucleotide variant Uncertain significance rs148797643 GRCh38 Chromosome 19, 29708293: 29708293
18 C19orf12 NM_001031726.3(C19orf12): c.154G> A (p.Val52Ile) single nucleotide variant Uncertain significance rs148797643 GRCh37 Chromosome 19, 30199200: 30199200
19 C19orf12 NM_001256047.1(C19orf12): c.282dup (p.Ile95Hisfs) duplication Uncertain significance GRCh38 Chromosome 19, 29702856: 29702856
20 C19orf12 NM_001256047.1(C19orf12): c.282dup (p.Ile95Hisfs) duplication Uncertain significance GRCh37 Chromosome 19, 30193763: 30193763
21 C19orf12 NM_001031726.3(C19orf12): c.237A> T (p.Gly79=) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 29702934: 29702934
22 C19orf12 NM_001031726.3(C19orf12): c.237A> T (p.Gly79=) single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 30193841: 30193841
23 C19orf12 NM_001031726.3(C19orf12): c.156C> T (p.Val52=) single nucleotide variant Likely benign rs374520604 GRCh38 Chromosome 19, 29708291: 29708291
24 C19orf12 NM_001031726.3(C19orf12): c.156C> T (p.Val52=) single nucleotide variant Likely benign rs374520604 GRCh37 Chromosome 19, 30199198: 30199198

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 C19orf12 CYP7B1 PNPLA6

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 CYP7B1 PNPLA6

Sources for Spastic Paraplegia 43, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
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31 HMDB
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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74 UMLS via Orphanet
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