Spastic Paraplegia 43, Autosomal Recessive disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Eye diseases Gastrointestinal diseases Bone diseases Mental diseases

See all MalaCards categories (disease lists)

ICD10: ³³ ³⁴

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

Hereditary ataxia

Hereditary spastic paraplegia

Orphanet: ⁵⁹

Rare neurological diseases

External Ids:

OMIM ⁵⁷ 615043

Disease Ontology ¹² DOID:0110795

ICD10 ³³ G11.4

Orphanet ⁵⁹ ORPHA320370

ICD10 via Orphanet ³⁴ G11.4

MedGen ⁴² C2680446 CN164738

MeSH ⁴⁴ D015419

UMLS ⁷³ C2680446

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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)

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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:

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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

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Drugs & Therapeutics for Spastic Paraplegia 43, Autosomal Recessive

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

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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

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Anatomical Context for Spastic Paraplegia 43, Autosomal Recessive

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Publications for Spastic Paraplegia 43, Autosomal Recessive

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Genes for Spastic Paraplegia 43, Autosomal Recessive

Genes related to Spastic Paraplegia 43, Autosomal Recessive (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	C19orf12	Chromosome 19 Open Reading Frame 12	Protein Coding	1747.16	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ Unconfirmed association ⁵⁷ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Gene name Variants (show sections)	20039086 23857908
2	CYP7B1	Cytochrome P450 Family 7 Subfamily B Member 1	Protein Coding	16.7	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
3	PNPLA6	Patatin Like Phospholipase Domain Containing 6	Protein Coding	15.96	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)

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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

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Expression for Spastic Paraplegia 43, Autosomal Recessive

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

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Pathways for Spastic Paraplegia 43, Autosomal Recessive

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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

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Sources for Spastic Paraplegia 43, Autosomal Recessive

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⁶⁸ SNOMED-CT

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⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia