Spastic Paraplegia 56, Autosomal Recessive disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Spastic Paraplegia 56, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 56, Autosomal Recessive:

Name: Spastic Paraplegia 56, Autosomal Recessive ⁵⁷ ⁷⁵ ²⁹ ¹³ ⁶ ⁷³

Spg56 ⁵⁷ ¹² ⁵⁹ ⁷⁵

Autosomal Recessive Spastic Paraplegia Type 56 ¹² ⁵⁹

Hereditary Spastic Paraplegia 56 ¹² ¹⁵

Paraplegia, Spastic, Type 56, Autosomal Recessive ⁴⁰

Autosomal Recessive Spastic Paraplegia 56 ¹²

Characteristics:

Orphanet epidemiological data:

⁵⁹

autosomal recessive spastic paraplegia type 56
Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal;

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
variable severity
onset in the first decade (range birth to 8 years)

HPO:

³²

spastic paraplegia 56, autosomal recessive:
Onset and clinical course variable expressivity
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 615030

Disease Ontology ¹² DOID:0110808

ICD10 ³³ G11.4

Orphanet ⁵⁹ ORPHA320411

ICD10 via Orphanet ³⁴ G11.4

MedGen ⁴² C3539507 CN164728

MeSH ⁴⁴ D015419

SNOMED-CT via HPO ⁶⁹ 258211005 228156007 247578003 more

UMLS ⁷³ C3539507

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Summaries for Spastic Paraplegia 56, Autosomal Recessive

UniProtKB/Swiss-Prot : ⁷⁵ Spastic paraplegia 56, 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. Complicated forms are recognized by additional variable features including spastic quadriparesis, seizures, dementia, amyotrophy, extrapyramidal disturbance, cerebral or cerebellar atrophy, optic atrophy, and peripheral neuropathy, as well as by extra neurological manifestations. In SPG56, upper limbs are often also affected. Some SPG56 patients may have a subclinical axonal neuropathy.

MalaCards based summary : Spastic Paraplegia 56, Autosomal Recessive, also known as spg56, is related to paraplegia and hereditary spastic paraplegia. An important gene associated with Spastic Paraplegia 56, Autosomal Recessive is CYP2U1 (Cytochrome P450 Family 2 Subfamily U Member 1). Affiliated tissues include globus pallidus, and related phenotypes are lower limb hyperreflexia and babinski sign

Disease Ontology : ¹² A hereditary spastic paraplegia that has material basis in mutation in the CYP2U1 gene on chromosome 4q25.

OMIM : ⁵⁷ SPG56 is an autosomal recessive neurodegenerative disorder characterized by early-onset progressive lower-limb spasticity resulting in walking difficulties. Upper limbs are often also affected, and some patients may have a subclinical axonal neuropathy (summary by Tesson et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see 270800. (615030)

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Related Diseases for Spastic Paraplegia 56, 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 56, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 23)

#	Related Disease	Score	Top Affiliating Genes
1	paraplegia	29.3	DDHD2 RTN2
2	hereditary spastic paraplegia	28.9	CYP2U1 DDHD2 GBA2 RTN2
3	hereditary spastic paraplegia 51	10.1	AP4S1 RTN2
4	spasticity	10.1
5	spastic paraplegia 15, autosomal recessive	10.0	CYP2U1 DDHD2
6	spastic paraplegia 52, autosomal recessive	9.9	AP4S1 RTN2
7	spastic paraplegia 35, autosomal recessive	9.9	CYP2U1 DDHD2
8	spastic paraplegia 50, autosomal recessive	9.8	AP4S1 RTN2
9	spastic paraplegia 28, autosomal recessive	9.6	AP4S1 DDHD2 RTN2
10	charcot-marie-tooth disease type 2a2	9.6	COX6A1 TRIM2
11	charcot-marie-tooth disease intermediate type	9.6	COX6A1 TRIM2
12	charcot-marie-tooth disease, axonal, type 2h	9.6	COX6A1 TRIM2
13	charcot-marie-tooth disease, recessive intermediate d	9.5	COX6A1 TRIM2
14	spastic paraplegia 55, autosomal recessive	9.5	COX6A1 TRIM2
15	charcot-marie-tooth disease, axonal, type 2r	9.5	COX6A1 TRIM2
16	charcot-marie-tooth disease, axonal, type 2b2	9.5	COX6A1 TRIM2
17	charcot-marie-tooth disease, axonal, type 2p	9.4	COX6A1 TRIM2
18	amyotrophic lateral sclerosis type 5	9.4	COX6A1 TRIM2
19	charcot-marie-tooth disease, axonal, type 2b1	9.4	COX6A1 TRIM2
20	spastic paraplegia 54, autosomal recessive	9.2	AP4S1 CYP2U1 DDHD2 RTN2
21	charcot-marie-tooth disease, axonal, type 2t	9.2	COX6A1 CYP2U1 TRIM2
22	spastic paraplegia 46, autosomal recessive	8.7	COX6A1 CYP2U1 GBA2 TRIM2
23	charcot-marie-tooth disease, axonal, type 2e	8.6	COX6A1 CYP2U1 GBA2 TRIM2

Graphical network of the top 20 diseases related to Spastic Paraplegia 56, Autosomal Recessive:

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Symptoms & Phenotypes for Spastic Paraplegia 56, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

⁵⁷

Neurologic Central Nervous System:
spastic paraplegia
unsteady gait
lower limb hyperreflexia
toe walking
delayed motor development
more

Neurologic Peripheral Nervous System:
axonal neuropathy, subclinical

Clinical features from OMIM:

615030

Human phenotypes related to Spastic Paraplegia 56, Autosomal Recessive:

⁵⁹ ³² (show all 17)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	lower limb hyperreflexia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0002395
2	babinski sign ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0003487
3	global developmental delay ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001263
4	spastic gait ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002064
5	unsteady gait ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002317
6	toe walking ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0040083
7	intellectual disability ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001249
8	spastic paraplegia ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001258
9	dystonia ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001332
10	hypoplasia of the corpus callosum ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0002079
11	peripheral axonal neuropathy ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0003477
12	cognitive impairment ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0100543
13	abnormality of the globus pallidus ⁵⁹		Occasional (29-5%)
14	abnormality of the cerebral white matter ⁵⁹		Occasional (29-5%)
15	motor delay ³²			HP:0001270
16	basal ganglia calcification ³²	occasional (7.5%)		HP:0002135
17	abnormal globus pallidus morphology ³²	occasional (7.5%)		HP:0002453

GenomeRNAi Phenotypes related to Spastic Paraplegia 56, Autosomal Recessive according to GeneCards Suite gene sharing:

²⁶ (show all 13)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance (Z-score > 2)	GR00366-A-105	9.53	GBA2 AP4S1 DDHD2
2	Increased shRNA abundance (Z-score > 2)	GR00366-A-116	9.53	AP4S1
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-120	9.53	DDHD2
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-135	9.53	GBA2
5	Increased shRNA abundance (Z-score > 2)	GR00366-A-158	9.53	DDHD2
6	Increased shRNA abundance (Z-score > 2)	GR00366-A-163	9.53	AP4S1
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-177	9.53	DDHD2
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-178	9.53	GBA2
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-188	9.53	AP4S1
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-189	9.53	AP4S1 GBA2
11	Increased shRNA abundance (Z-score > 2)	GR00366-A-29	9.53	AP4S1
12	Increased shRNA abundance (Z-score > 2)	GR00366-A-50	9.53	DDHD2
13	Increased shRNA abundance (Z-score > 2)	GR00366-A-99	9.53	DDHD2

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Drugs & Therapeutics for Spastic Paraplegia 56, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 56, Autosomal Recessive

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Genetic Tests for Spastic Paraplegia 56, Autosomal Recessive

Genetic tests related to Spastic Paraplegia 56, Autosomal Recessive:

#	Genetic test	Affiliating Genes
1	Spastic Paraplegia 56, Autosomal Recessive ²⁹	CYP2U1

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Anatomical Context for Spastic Paraplegia 56, Autosomal Recessive

MalaCards organs/tissues related to Spastic Paraplegia 56, Autosomal Recessive:

⁴¹

Globus Pallidus

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Publications for Spastic Paraplegia 56, Autosomal Recessive

Articles related to Spastic Paraplegia 56, Autosomal Recessive:

#	Title	Authors	Year
1	CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56. ( 29034544 )	Durand C.M....Goizet C.	2018

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Genes for Spastic Paraplegia 56, Autosomal Recessive

Genes related to Spastic Paraplegia 56, Autosomal Recessive (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CYP2U1	Cytochrome P450 Family 2 Subfamily U Member 1	Protein Coding	1687.87	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	23176821
2	DDHD2	DDHD Domain Containing 2	Protein Coding	16.73	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
3	GBA2	Glucosylceramidase Beta 2	Protein Coding	16.32	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
4	RTN2	Reticulon 2	Protein Coding	16.15	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
5	TRIM2	Tripartite Motif Containing 2	Protein Coding	16.15	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
6	COX6A1	Cytochrome C Oxidase Subunit 6A1	Protein Coding	16.14	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
7	AP4S1	Adaptor Related Protein Complex 4 Subunit Sigma 1	Protein Coding	16.13	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)

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Variations for Spastic Paraplegia 56, Autosomal Recessive

UniProtKB/Swiss-Prot genetic disease variations for Spastic Paraplegia 56, Autosomal Recessive:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	CYP2U1	p.Cys262Arg	VAR_069575	rs397514515
2	CYP2U1	p.Asp316Val	VAR_069576	rs397514513
3	CYP2U1	p.Glu380Gly	VAR_069577	rs397514514
4	CYP2U1	p.Arg488Trp	VAR_069578	rs141431913

ClinVar genetic disease variations for Spastic Paraplegia 56, Autosomal Recessive:

⁶

(show all 15)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	CYP2U1	CYP2U1, 13-BP DEL, NT61	deletion	Pathogenic
2	CYP2U1	NM_183075.2(CYP2U1): c.947A> T (p.Asp316Val)	single nucleotide variant	Pathogenic	rs397514513	GRCh37	Chromosome 4, 108866582: 108866582
3	CYP2U1	NM_183075.2(CYP2U1): c.947A> T (p.Asp316Val)	single nucleotide variant	Pathogenic	rs397514513	GRCh38	Chromosome 4, 107945426: 107945426
4	CYP2U1	NM_183075.2(CYP2U1): c.1139A> G (p.Glu380Gly)	single nucleotide variant	Pathogenic	rs397514514	GRCh37	Chromosome 4, 108868544: 108868544
5	CYP2U1	NM_183075.2(CYP2U1): c.1139A> G (p.Glu380Gly)	single nucleotide variant	Pathogenic	rs397514514	GRCh38	Chromosome 4, 107947388: 107947388
6	CYP2U1	NM_183075.2(CYP2U1): c.784T> C (p.Cys262Arg)	single nucleotide variant	Pathogenic	rs397514515	GRCh37	Chromosome 4, 108866419: 108866419
7	CYP2U1	NM_183075.2(CYP2U1): c.784T> C (p.Cys262Arg)	single nucleotide variant	Pathogenic	rs397514515	GRCh38	Chromosome 4, 107945263: 107945263
8	CYP2U1	NM_183075.2(CYP2U1): c.1462C> T (p.Arg488Trp)	single nucleotide variant	Pathogenic	rs141431913	GRCh37	Chromosome 4, 108871406: 108871406
9	CYP2U1	NM_183075.2(CYP2U1): c.1462C> T (p.Arg488Trp)	single nucleotide variant	Pathogenic	rs141431913	GRCh38	Chromosome 4, 107950250: 107950250
10	CYP2U1	NM_183075.2(CYP2U1): c.1210_1211delGA (p.Glu404Serfs)	deletion	Likely pathogenic	rs767024102	GRCh37	Chromosome 4, 108868615: 108868616
11	CYP2U1	NM_183075.2(CYP2U1): c.1210_1211delGA (p.Glu404Serfs)	deletion	Likely pathogenic	rs767024102	GRCh38	Chromosome 4, 107947459: 107947460
12	CYP2U1	NM_183075.2(CYP2U1): c.452C> T (p.Pro151Leu)	single nucleotide variant	Likely pathogenic	rs761575210	GRCh37	Chromosome 4, 108853251: 108853251
13	CYP2U1	NM_183075.2(CYP2U1): c.452C> T (p.Pro151Leu)	single nucleotide variant	Likely pathogenic	rs761575210	GRCh38	Chromosome 4, 107932095: 107932095
14	CYP2U1	NM_183075.2(CYP2U1): c.943C> T (p.Gln315Ter)	single nucleotide variant	Pathogenic		GRCh37	Chromosome 4, 108866578: 108866578
15	CYP2U1	NM_183075.2(CYP2U1): c.943C> T (p.Gln315Ter)	single nucleotide variant	Pathogenic		GRCh38	Chromosome 4, 107945422: 107945422

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Expression for Spastic Paraplegia 56, Autosomal Recessive

Search GEO for disease gene expression data for Spastic Paraplegia 56, Autosomal Recessive.

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Pathways for Spastic Paraplegia 56, Autosomal Recessive

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GO Terms for Spastic Paraplegia 56, Autosomal Recessive

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