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 distal amyotrophy

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 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
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 68)

#	Related Disease	Score	Top Affiliating Genes
1	neurodegeneration with brain iron accumulation 4	29.8	PLA2G6 FA2H ERLIN2 C19orf12
2	neurodegeneration with brain iron accumulation	29.7	SPG11 PLA2G6 FA2H C19orf12
3	paraplegia	26.0	WASHC5 VPS37A SPG11 SPAST SLC33A1 PNPLA6
4	hereditary spastic paraplegia	25.3	WASHC5 VPS37A SPG11 SPAST SLC33A1 PNPLA6
5	mitochondrial membrane protein-associated neurodegeneration	10.2
6	spastic paraplegia 5a	10.2	GBA2 C19orf12
7	spastic paraplegia 57, autosomal recessive	10.1	SPG11 ERLIN2
8	spastic paraplegia 5a, autosomal recessive	10.1	SPG11 SPAST PNPLA6
9	neuropathy, hereditary sensory, type iic	10.1	SPG11 FA2H ERLIN2
10	spastic paraplegia 50, autosomal recessive	10.0	VPS37A SPG11
11	spastic paraplegia 11, autosomal recessive	10.0	SPG11 SPAST
12	pure hereditary spastic paraplegia	10.0	SPAST ERLIN2 ATL1
13	oromandibular dystonia	10.0	PLA2G6 C19orf12
14	juvenile amyotrophic lateral sclerosis	10.0	SPG11 C19orf12
15	spastic paraplegia 47, autosomal recessive	9.9	WASHC5 SPG11
16	spastic paraplegia 76, autosomal recessive	9.9	SPG11 PNPLA6 GBA2
17	spastic paraplegia 28, autosomal recessive	9.9	SPG11 PNPLA6 FA2H ERLIN2
18	spastic paraplegia 56, autosomal recessive	9.8	SPG11 GBA2 FA2H
19	neurodegeneration with brain iron accumulation 2b	9.8	PLA2G6 FA2H C19orf12
20	spastic paraplegia, optic atrophy, and neuropathy	9.8	WASHC5 VPS37A
21	neurodegeneration with brain iron accumulation 3	9.8	PLA2G6 FA2H C19orf12
22	neurodegeneration with brain iron accumulation 6	9.8	PLA2G6 FA2H C19orf12
23	neurodegeneration with brain iron accumulation 2a	9.8	PLA2G6 FA2H C19orf12
24	neurodegeneration with brain iron accumulation 1	9.8	PLA2G6 FA2H C19orf12
25	kufor-rakeb syndrome	9.8	PLA2G6 FA2H C19orf12
26	neuroaxonal dystrophy	9.8	PLA2G6 FA2H C19orf12
27	spastic paraparesis	9.8	VPS37A SPG11 SPAST FA2H
28	spastic paraplegia 20, autosomal recessive	9.8	SPG11 SPAST PNPLA6 ATL1
29	spastic paraplegia 61, autosomal recessive	9.7	SPG11 SPAST ATL1 ARL6IP1
30	spastic paraplegia 18, autosomal recessive	9.7	WASHC5 SPG11 FA2H ERLIN2
31	spastic paraplegia 54, autosomal recessive	9.7	SPG11 PNPLA6 GBA2 FA2H
32	spastic paraplegia 29, autosomal dominant	9.7	WASHC5 SLC33A1
33	spastic paraplegia 25, autosomal recessive	9.7	WASHC5 SLC33A1
34	spastic paraplegia 44, autosomal recessive	9.7	SPG11 SLC33A1 ERLIN2
35	spastic paraplegia 19, autosomal dominant	9.6	WASHC5 SLC33A1
36	neurodegeneration with brain iron accumulation 5	9.6	SPG11 PLA2G6 FA2H C19orf12
37	spastic paraplegia 34, x-linked	9.6	WASHC5 SLC33A1
38	parkinson disease 15, autosomal recessive early-onset	9.6	SPG11 PLA2G6 FA2H C19orf12
39	spastic paraplegia 33, autosomal dominant	9.6	WASHC5 SPG11 SPAST ATL1
40	spastic paraplegia 73, autosomal dominant	9.6	PNPLA6 GBA2 FA2H ATL1
41	spastic paraplegia 31, autosomal dominant	9.6	WASHC5 SPG11 SPAST ATL1
42	spastic paraplegia 10, autosomal dominant	9.6	WASHC5 SPG11 SPAST ATL1
43	spastic paraplegia 17, autosomal dominant	9.6	WASHC5 SPG11 SPAST ATL1
44	spastic paraplegia 3, autosomal dominant	9.6	WASHC5 SPG11 SPAST ATL1
45	motor neuron disease	9.5	SPAST PNPLA6 ARL6IP1
46	spastic paraplegia 37, autosomal dominant	9.5	WASHC5 SLC33A1 ERLIN2
47	hereditary spastic paraplegia 72	9.5	SPG11 SPAST ERLIN2 ATL1 ARL6IP1
48	spastic paraplegia 46, autosomal recessive	9.5	SPG11 SPAST PNPLA6 GBA2 FA2H
49	hereditary spastic paraplegia 23	9.5	WASHC5 SPG11 SLC33A1
50	spastic paraplegia 32, autosomal recessive	9.5	WASHC5 SPG11 SLC33A1

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 24)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	babinski sign ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0003487
2	distal amyotrophy ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0003693
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 paraparesis ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002313
7	spastic gait ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002064
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	muscle weakness ³¹			HP:0001324
19	gait disturbance ³¹			HP:0001288
20	hyperreflexia ³¹			HP:0001347
21	dysarthria ³¹			HP:0001260
22	hyporeflexia ³¹			HP:0001265
23	spastic paraplegia ³¹			HP:0001258
24	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

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

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	9.28	ARL6IP1 ATL1 FA2H PLA2G6 PNPLA6 SLC33A1

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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. ⁶¹ ⁶ ⁵⁶	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 13)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	C19orf12	Chromosome 19 Open Reading Frame 12	Protein Coding	1737.95	Molecular basis known ⁵⁶ 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)	20301682 20039086 23857908
2	SPAST	Spastin	Protein Coding	6.74	DISEASES inferred ¹⁵
3	ERLIN2	ER Lipid Raft Associated 2	Protein Coding	6.43	DISEASES inferred ¹⁵
4	PNPLA6	Patatin Like Phospholipase Domain Containing 6	Protein Coding	6.3	DISEASES inferred ¹⁵
5	FA2H	Fatty Acid 2-Hydroxylase	Protein Coding	6.3	DISEASES inferred ¹⁵
6	SPG11	SPG11 Vesicle Trafficking Associated, Spatacsin	Protein Coding	6.28	DISEASES inferred ¹⁵
7	ARL6IP1	ADP Ribosylation Factor Like GTPase 6 Interacting Protein 1	Protein Coding	6.24	DISEASES inferred ¹⁵
8	VPS37A	VPS37A Subunit Of ESCRT-I	Protein Coding	6.1	DISEASES inferred ¹⁵
9	ATL1	Atlastin GTPase 1	Protein Coding	6.06	DISEASES inferred ¹⁵
10	GBA2	Glucosylceramidase Beta 2	Protein Coding	6	DISEASES inferred ¹⁵
11	PLA2G6	Phospholipase A2 Group VI	Protein Coding	5.94	DISEASES inferred ¹⁵
12	SLC33A1	Solute Carrier Family 33 Member 1	Protein Coding	5.82	DISEASES inferred ¹⁵
13	WASHC5	WASH Complex Subunit 5	Protein Coding	5.8	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 26) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	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	NC_000019.10:g.(?_29702692)_(29714949_?)del	deletion	Pathogenic	831602		19:30193599-30205856
3	C19orf12	NM_031448.6(C19orf12):c.171_181del (p.Gly58fs)	deletion	Pathogenic	31155	rs515726204	19:30193864-30193874	19:29702957-29702967
4	C19orf12	NM_001256047.1(C19orf12):c.172G>A (p.Gly58Arg)	SNV	Pathogenic/Likely pathogenic	31157	rs515726205	19:30193873-30193873	19:29702966-29702966
5	C19orf12	NM_001256047.1(C19orf12):c.154G>C (p.Ala52Pro)	SNV	Likely pathogenic	88865	rs376103979	19:30199167-30199167	19:29708260-29708260
6	C19orf12	NM_001256047.1(C19orf12):c.391A>G (p.Lys131Glu)	SNV	Conflicting interpretations of pathogenicity	31158	rs146170087	19:30193654-30193654	19:29702747-29702747
7	C19orf12	NM_031448.6(C19orf12):c.385G>A (p.Val129Ile)	SNV	Uncertain significance	862989		19:30193660-30193660	19:29702753-29702753
8	C19orf12	NM_031448.6(C19orf12):c.376G>A (p.Val126Met)	SNV	Uncertain significance	849496		19:30193669-30193669	19:29702762-29702762
9	C19orf12	NM_031448.6(C19orf12):c.163G>C (p.Gly55Arg)	SNV	Uncertain significance	855673		19:30193882-30193882	19:29702975-29702975
10	C19orf12	NM_001256047.1(C19orf12):c.277G>A (p.Ala93Thr)	SNV	Uncertain significance	661004		19:30193768-30193768	19:29702861-29702861
11	C19orf12	NM_001256047.1(C19orf12):c.-11+661G>A	SNV	Uncertain significance	642357		19:30205809-30205809	19:29714902-29714902
12	C19orf12	NM_001256047.1(C19orf12):c.270del (p.Asn90fs)	deletion	Uncertain significance	469658	rs1555714836	19:30193775-30193775	19:29702868-29702868
13	C19orf12	NM_001256047.1(C19orf12):c.121G>A (p.Val41Ile)	SNV	Uncertain significance	469655	rs148797643	19:30199200-30199200	19:29708293-29708293
14	C19orf12	NM_001256047.1(C19orf12):c.282dup (p.Ile95fs)	duplication	Uncertain significance	469659	rs1555714827	19:30193762-30193763	19:29702855-29702856
15	C19orf12	NM_001256047.1(C19orf12):c.204A>T (p.Gly68=)	SNV	Uncertain significance	469656	rs1555714878	19:30193841-30193841	19:29702934-29702934
16	C19orf12	NM_001256047.1(C19orf12):c.313G>A (p.Val105Met)	SNV	Uncertain significance	286392	rs146492790	19:30193732-30193732	19:29702825-29702825
17	C19orf12	NM_001256047.1(C19orf12):c.68C>T (p.Ala23Val)	SNV	Uncertain significance	328731	rs544395324	19:30199253-30199253	19:29708346-29708346
18	C19orf12	NM_001256047.1(C19orf12):c.170T>C (p.Val57Ala)	SNV	Uncertain significance	579842	rs766939148	19:30193875-30193875	19:29702968-29702968
19	C19orf12	NM_001256047.1(C19orf12):c.413A>G (p.Gln138Arg)	SNV	Likely benign	380881	rs73023451	19:30193632-30193632	19:29702725-29702725
20	C19orf12	NM_001256047.1(C19orf12):c.-10-5C>T	SNV	Likely benign	389609	rs546546532	19:30199335-30199335	19:29708428-29708428
21	C19orf12	NM_001256047.1(C19orf12):c.249C>T (p.Ala83=)	SNV	Likely benign	513585	rs762174442	19:30193796-30193796	19:29702889-29702889
22	C19orf12	NM_001256047.1(C19orf12):c.123C>T (p.Val41=)	SNV	Likely benign	537393	rs374520604	19:30199198-30199198	19:29708291-29708291
23	C19orf12	NM_031448.6(C19orf12):c.165G>A (p.Gly55=)	SNV	Likely benign	701163		19:30193880-30193880	19:29702973-29702973
24	C19orf12	NM_001256047.1(C19orf12):c.216G>A (p.Pro72=)	SNV	Benign/Likely benign	238220	rs202054484	19:30193829-30193829	19:29702922-29702922
25	C19orf12	NM_001256047.1(C19orf12):c.69G>A (p.Ala23=)	SNV	Benign/Likely benign	238219	rs201118405	19:30199252-30199252	19:29708345-29708345
26	C19orf12	NM_001256047.1(C19orf12):c.392A>C (p.Lys131Thr)	SNV	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

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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	membrane	GO:0016020	10.06	VPS37A SPAST SLC33A1 PNPLA6 PLA2G6 GBA2
2	cytosol	GO:0005829	9.91	WASHC5 VPS37A SPG11 SPAST PLA2G6 GBA2
3	integral component of membrane	GO:0016021	9.85	SPAST SLC33A1 PNPLA6 PLA2G6 GBA2 FA2H
4	endoplasmic reticulum membrane	GO:0005789	9.56	SPAST SLC33A1 PNPLA6 GBA2 FA2H ERLIN2
5	endoplasmic reticulum	GO:0005783	9.32	WASHC5 SPAST SLC33A1 PNPLA6 GBA2 FA2H

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	lysosome organization	GO:0007040	9.16	WASHC5 SPG11
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

Sources for Spastic Paraplegia 43, Autosomal Recessive

¹ BioSystems

² BitterDB

³ CDC

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²⁰ GeneAnalytics

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²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

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³² ICD10

³³ ICD10 via Orphanet

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⁴⁰ MalaCards

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⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

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⁵¹ NIH Clinical Center

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⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

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⁶¹ PubMed

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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:

MGI Mouse Phenotypes 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:

Molecular functions related to Spastic Paraplegia 43, Autosomal Recessive according to GeneCards Suite gene sharing:

Sources for Spastic Paraplegia 43, Autosomal Recessive