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 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:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Eye diseases Gastrointestinal diseases Skin diseases Respiratory diseases Bone diseases Nephrological diseases Ear diseases Mental diseases

See all MalaCards categories (disease lists)

ICD10: ³² ³³

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

Hereditary ataxia

Hereditary spastic paraplegia

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

MedGen ⁴¹ C2680446 CN164738

UMLS ⁷¹ C2680446

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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 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 : 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)

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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, 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 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 79)

#	Related Disease	Score	Top Affiliating Genes
1	neurodegeneration with brain iron accumulation 4	30.3	FA2H ERLIN2 C19orf12
2	neurodegeneration with brain iron accumulation	30.0	SPG11 FA2H DDHD1 C19orf12
3	paraplegia	25.6	ZFYVE27 ZFYVE26 VPS37A SPG11 SPAST SLC33A1
4	hereditary spastic paraplegia	25.6	ZFYVE27 ZFYVE26 VPS37A SPG11 SPAST SLC33A1
5	spastic paraplegia 5a	10.4	GBA2 C19orf12
6	neurodegeneration with brain iron accumulation 2b	10.3	FA2H C19orf12
7	pure hereditary spastic paraplegia	10.3	SPAST ERLIN2
8	neuropathy, hereditary sensory, type iic	10.2	SPG11 FA2H
9	juvenile-onset parkinson's disease	10.2	FA2H C19orf12
10	sjogren-larsson syndrome	10.2	FA2H DDHD1
11	juvenile amyotrophic lateral sclerosis	10.2	SPG11 C19orf12
12	neurodegeneration with brain iron accumulation 3	10.2	FA2H C19orf12
13	mitochondrial membrane protein-associated neurodegeneration	10.2
14	neurodegeneration with brain iron accumulation 5	10.2	FA2H C19orf12
15	neurodegeneration with brain iron accumulation 6	10.1	FA2H C19orf12
16	spastic paraplegia 61, autosomal recessive	10.1	SPAST ARL6IP1
17	spastic paraplegia 76, autosomal recessive	10.1	GBA2 FA2H
18	spastic paraplegia 57, autosomal recessive	10.1	SPG11 ERLIN2
19	neurodegeneration with brain iron accumulation 2a	10.1	FA2H C19orf12
20	spinocerebellar ataxia, autosomal recessive 20	10.1	ZFYVE26 SPG11
21	spastic paraplegia 11, autosomal recessive	10.1	ZFYVE26 SPG11
22	neurodegeneration with brain iron accumulation 1	10.1	FA2H C19orf12
23	spastic paraplegia 30, autosomal recessive	10.1	SPG11 SPAST FA2H
24	parkinson disease 15, autosomal recessive early-onset	10.0	SPG11 FA2H C19orf12
25	autosomal dominant non-syndromic intellectual disability 9	10.0	ZFYVE26 VPS37A
26	spastic paraplegia 28, autosomal recessive	10.0	SPG11 FA2H DDHD1
27	kufor-rakeb syndrome	10.0	FA2H C19orf12
28	hereditary spastic paraplegia 72	10.0	ZFYVE26 SPG11 SPAST
29	amyotrophic lateral sclerosis type 5	10.0	ZFYVE26 SPG11 SPAST
30	charcot-marie-tooth disease, axonal, type 2t	10.0	ZFYVE26 GBA2 FA2H
31	spasticity	10.0	SPAST DDHD1
32	spastic paraplegia 17, autosomal dominant	10.0	ZFYVE26 SPG11 SPAST
33	axonal neuropathy	9.9	ZFYVE26 SPG11 C19orf12
34	spastic paraplegia 20, autosomal recessive	9.9	ZFYVE26 SPG11 SPAST
35	spastic paraplegia 49, autosomal recessive	9.9	ZFYVE26 SPG11 DDHD1
36	spastic paraplegia 3, autosomal dominant	9.9	ZFYVE26 SPG11 SPAST
37	spastic paraplegia 55, autosomal recessive	9.9	ZFYVE26 SPG11 DDHD1
38	mast syndrome	9.9	ZFYVE27 SPG11
39	spastic paraplegia 47, autosomal recessive	9.9	ZFYVE26 SPG11 ERLIN2
40	spastic paraplegia 54, autosomal recessive	9.8	SPG11 GBA2 FA2H DDHD1
41	spastic paraplegia 56, autosomal recessive	9.8	SPG11 GBA2 FA2H DDHD1
42	hereditary spastic paraplegia 51	9.8	ZFYVE26 VPS37A SPG11
43	spastic paraplegia 34, x-linked	9.8	ZFYVE26 SLC33A1
44	spastic paraplegia 29, autosomal dominant	9.8	ZFYVE26 SLC33A1
45	neuroaxonal dystrophy	9.8	FA2H C19orf12
46	spastic paraplegia 52, autosomal recessive	9.8	ZFYVE26 VPS37A SPG11
47	spastic paraplegia 37, autosomal dominant	9.8	ZFYVE26 SLC33A1
48	spastic paraplegia 25, autosomal recessive	9.8	ZFYVE26 SLC33A1
49	spastic paraplegia 19, autosomal dominant	9.8	ZFYVE26 SLC33A1
50	spastic paraplegia 35, autosomal recessive	9.7	ZFYVE26 SPG11 FA2H C19orf12

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

Human phenotypes related to Spastic Paraplegia 43, Autosomal Recessive:

⁵⁸ ³¹ (show all 25)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	babinski sign ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0003487
2	poor fine motor coordination ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0007010
3	difficulty walking ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002355
4	distal amyotrophy ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0003693
5	spastic gait ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002064
6	distal muscle weakness ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002460
7	spastic paraparesis ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002313
8	generalized hypotonia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001290
9	pes cavus ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001761
10	brisk reflexes ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001348
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	absent achilles reflex ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003438
14	impaired vibratory sensation ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002495
15	hyperactive patellar reflex ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0007083
16	ankle flexion contracture ³¹	frequent (33%)		HP:0006466
17	spasticity ⁵⁸ ³¹		Frequent (79-30%)	HP:0001257
18	dysarthria ³¹			HP:0001260
19	gait disturbance ³¹			HP:0001288
20	muscle weakness ³¹			HP:0001324
21	hyperreflexia ³¹			HP:0001347
22	hyporeflexia ³¹			HP:0001265
23	spastic paraplegia ³¹			HP:0001258
24	ankle contracture ⁵⁸		Frequent (79-30%)
25	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

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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

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. ⁵⁶ ⁶¹ ⁶	Landoure G...Burnett BG	23857908	2013
2	Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19. ⁶¹ ⁶ ⁵⁶	Meilleur KG...Fischbeck KH	20039086	2010
3	Hereditary Spastic Paraplegia Overview ⁶	Hedera P	20301682	2000
4	Clinical and genetic spectrum of an orphan disease MPAN: a series with new variants and a novel phenotype. ⁶¹	Akcakaya NH...Yapici Z	31804703	2019
5	Mutational analysis of the CYP7B1, PNPLA6 and C19orf12 genes in autosomal recessive hereditary spastic paraplegia. ⁶¹	Schubert SF...Dekomien G	26714052	2016

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Genes for Spastic Paraplegia 43, Autosomal Recessive

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

(show all 12)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	C19orf12	Chromosome 19 Open Reading Frame 12	Protein Coding	1738.06	Molecular basis known ⁵⁶ Pathogenic/Likely pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ Unconfirmed association ⁵⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Gene name Variants (show sections)	23857908 20039086 20301682
2	SPAST	Spastin	Protein Coding	6.75	DISEASES inferred ¹⁵
3	GBA2	Glucosylceramidase Beta 2	Protein Coding	6.61	DISEASES inferred ¹⁵
4	DDHD1	DDHD Domain Containing 1	Protein Coding	6.6	DISEASES inferred ¹⁵
5	FA2H	Fatty Acid 2-Hydroxylase	Protein Coding	6.59	DISEASES inferred ¹⁵
6	SPG11	SPG11 Vesicle Trafficking Associated, Spatacsin	Protein Coding	6.55	DISEASES inferred ¹⁵
7	ERLIN2	ER Lipid Raft Associated 2	Protein Coding	6.44	DISEASES inferred ¹⁵
8	ZFYVE26	Zinc Finger FYVE-Type Containing 26	Protein Coding	6.35	DISEASES inferred ¹⁵
9	ARL6IP1	ADP Ribosylation Factor Like GTPase 6 Interacting Protein 1	Protein Coding	6.28	DISEASES inferred ¹⁵
10	ZFYVE27	Zinc Finger FYVE-Type Containing 27	Protein Coding	6.24	DISEASES inferred ¹⁵
11	SLC33A1	Solute Carrier Family 33 Member 1	Protein Coding	6.24	DISEASES inferred ¹⁵
12	VPS37A	VPS37A Subunit Of ESCRT-I	Protein Coding	6.12	DISEASES inferred ¹⁵

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Variations for Spastic Paraplegia 43, Autosomal Recessive

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

⁶ (show all 19) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	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	NM_001256047.1(C19orf12):c.172G>A (p.Gly58Arg)	SNV	Pathogenic/Likely pathogenic	31157	rs515726205	19:30193873-30193873	19:29702966-29702966
3	C19orf12	NM_001256047.1(C19orf12):c.154G>C (p.Ala52Pro)	SNV	Likely pathogenic	88865	rs376103979	19:30199167-30199167	19:29708260-29708260
4	C19orf12	NM_001256047.1(C19orf12):c.391A>G (p.Lys131Glu)	SNV	Conflicting interpretations of pathogenicity	31158	rs146170087	19:30193654-30193654	19:29702747-29702747
5	C19orf12	NM_001256047.1(C19orf12):c.216G>A (p.Pro72=)	SNV	Conflicting interpretations of pathogenicity	238220	rs202054484	19:30193829-30193829	19:29702922-29702922
6	C19orf12	NM_001256047.1(C19orf12):c.69G>A (p.Ala23=)	SNV	Conflicting interpretations of pathogenicity	238219	rs201118405	19:30199252-30199252	19:29708345-29708345
7	C19orf12	NM_001256047.1(C19orf12):c.313G>A (p.Val105Met)	SNV	Uncertain significance	286392	rs146492790	19:30193732-30193732	19:29702825-29702825
8	C19orf12	NM_001256047.1(C19orf12):c.68C>T (p.Ala23Val)	SNV	Uncertain significance	328731	rs544395324	19:30199253-30199253	19:29708346-29708346
9	C19orf12	NM_001256047.1(C19orf12):c.277G>A (p.Ala93Thr)	SNV	Uncertain significance	661004		19:30193768-30193768	19:29702861-29702861
10	C19orf12	NM_001256047.1(C19orf12):c.-11+661G>A	SNV	Uncertain significance	642357		19:30205809-30205809	19:29714902-29714902
11	C19orf12	NM_001256047.1(C19orf12):c.270del (p.Asn90fs)	deletion	Uncertain significance	469658	rs1555714836	19:30193775-30193775	19:29702868-29702868
12	C19orf12	NM_001256047.1(C19orf12):c.121G>A (p.Val41Ile)	SNV	Uncertain significance	469655	rs148797643	19:30199200-30199200	19:29708293-29708293
13	C19orf12	NM_001256047.1(C19orf12):c.282dup (p.Ile95fs)	duplication	Uncertain significance	469659	rs1555714827	19:30193763-30193763	19:29702856-29702856
14	C19orf12	NM_001256047.1(C19orf12):c.204A>T (p.Gly68=)	SNV	Uncertain significance	469656	rs1555714878	19:30193841-30193841	19:29702934-29702934
15	C19orf12	NM_001256047.1(C19orf12):c.170T>C (p.Val57Ala)	SNV	Uncertain significance	579842		19:30193875-30193875	19:29702968-29702968
16	C19orf12	NM_001256047.1(C19orf12):c.123C>T (p.Val41=)	SNV	Likely benign	537393	rs374520604	19:30199198-30199198	19:29708291-29708291
17	C19orf12	NM_001256047.1(C19orf12):c.238C>T (p.Leu80=)	SNV	Likely benign	469657	rs753364652	19:30193807-30193807	19:29702900-29702900
18	C19orf12	NM_001256047.1(C19orf12):c.413A>G (p.Gln138Arg)	SNV	Likely benign	380881	rs73023451	19:30193632-30193632	19:29702725-29702725
19	C19orf12	NM_001256047.1(C19orf12):c.392A>C (p.Lys131Thr)	SNV	Benign/Likely 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

Sources

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	cytosol	GO:0005829	9.81	ZFYVE27 VPS37A SPG11 SPAST GBA2 ERLIN2
2	endoplasmic reticulum membrane	GO:0005789	9.5	ZFYVE27 SPAST SLC33A1 GBA2 FA2H ERLIN2
3	endoplasmic reticulum	GO:0005783	9.23	ZFYVE27 SPAST SLC33A1 GBA2 FA2H ERLIN2

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	9.26	GBA2 FA2H ERLIN2 DDHD1
2	mitotic cytokinesis	GO:0000281	9.16	ZFYVE26 SPAST
3	endoplasmic reticulum tubular network formation	GO:0071787	8.62	ZFYVE27 ARL6IP1

Sources

Sources for Spastic Paraplegia 43, Autosomal Recessive

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Spastic Paraplegia 43, Autosomal Recessive (SPG43)

Aliases & Classifications for Spastic Paraplegia 43, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 43, Autosomal Recessive:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Spastic Paraplegia 43, Autosomal Recessive

Related Diseases for Spastic Paraplegia 43, Autosomal Recessive

Diseases in the Spastic Paraplegia 3a family:

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

Graphical network of the top 20 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:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

UMLS symptoms related to Spastic Paraplegia 43, Autosomal Recessive:

Drugs & Therapeutics for Spastic Paraplegia 43, Autosomal Recessive

Genetic Tests for Spastic Paraplegia 43, Autosomal Recessive

Genetic tests related to Spastic Paraplegia 43, Autosomal Recessive:

Anatomical Context for Spastic Paraplegia 43, Autosomal Recessive

Publications for Spastic Paraplegia 43, Autosomal Recessive

Articles related to Spastic Paraplegia 43, Autosomal Recessive:

Genes for Spastic Paraplegia 43, Autosomal Recessive

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

Variations for Spastic Paraplegia 43, Autosomal Recessive

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

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

Expression 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:

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

Sources for Spastic Paraplegia 43, Autosomal Recessive