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SPG56
MCID: SPS101
MIFTS: 37

Spastic Paraplegia 56, Autosomal Recessive (SPG56)

Categories: Bone diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Spastic Paraplegia 56, Autosomal Recessive

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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 Mental diseases Skin diseases Nephrological diseases Ear diseases Gastrointestinal diseases Bone diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 59  
Rare neurological diseases


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Summaries for Spastic Paraplegia 56, Autosomal Recessive

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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, skin and bone, and related phenotypes are intellectual disability and global developmental delay

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

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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
Spastic Paraplegia Type 49 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 Autosomal Dominant Spastic Paraplegia Type 9b
Autosomal Dominant Spastic Paraplegia Type 9

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

(show all 20)
# Related Disease Score Top Affiliating Genes
1 paraplegia 30.2 AP5Z1 DDHD2 RTN2
2 hereditary spastic paraplegia 29.7 AP5Z1 CYP2U1 DDHD2 GBA2 RTN2
3 spastic paraplegia 5a 10.0 CYP2U1 GBA2
4 spastic paraplegia 48, autosomal recessive 10.0 AP5Z1 DDHD2
5 spastic paraplegia 33, autosomal dominant 10.0 AP5Z1 RTN2
6 spastic paraplegia 31, autosomal dominant 10.0 AP5Z1 RTN2
7 spastic paraplegia 2, x-linked 9.9 AP5Z1 RTN2
8 spastic paraplegia 12, autosomal dominant 9.9 AP5Z1 RTN2
9 spastic paraplegia 15, autosomal recessive 9.9 AP5Z1 CYP2U1 DDHD2
10 spastic paraplegia 35, autosomal recessive 9.9 AP5Z1 CYP2U1 DDHD2
11 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 9.9 CYP2U1 DDHD2
12 spastic paraplegia 10, autosomal dominant 9.9 AP5Z1 RTN2
13 charcot-marie-tooth disease, axonal, type 2t 9.8 COX6A1 CYP2U1
14 hereditary spastic paraplegia 51 9.8 AP4S1 AP5Z1 RTN2
15 spastic paraplegia 50, autosomal recessive 9.8 AP4S1 AP5Z1 RTN2
16 spastic paraplegia 46, autosomal recessive 9.8 COX6A1 CYP2U1 GBA2
17 spastic paraplegia 52, autosomal recessive 9.8 AP4S1 AP5Z1 RTN2
18 charcot-marie-tooth disease, axonal, type 2e 9.8 COX6A1 CYP2U1 GBA2
19 spastic paraplegia 28, autosomal recessive 9.6 AP4S1 AP5Z1 DDHD2 RTN2
20 spastic paraplegia 54, autosomal recessive 9.5 AP4S1 AP5Z1 CYP2U1 DDHD2 RTN2

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



Diseases related to Spastic Paraplegia 56, Autosomal Recessive
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Symptoms & Phenotypes for Spastic Paraplegia 56, Autosomal Recessive

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Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
toe walking
spastic paraplegia
unsteady gait
lower limb hyperreflexia
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 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
2 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
3 cognitive impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0100543
4 babinski sign 59 32 hallmark (90%) Very frequent (99-80%) HP:0003487
5 dystonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001332
6 toe walking 59 32 frequent (33%) Frequent (79-30%) HP:0040083
7 spastic paraplegia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001258
8 spastic gait 59 32 frequent (33%) Frequent (79-30%) HP:0002064
9 hypoplasia of the corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0002079
10 peripheral axonal neuropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003477
11 unsteady gait 59 32 frequent (33%) Frequent (79-30%) HP:0002317
12 lower limb hyperreflexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002395
13 motor delay 32 HP:0001270
14 abnormality of the cerebral white matter 59 Occasional (29-5%)
15 abnormality of the globus pallidus 59 Occasional (29-5%)
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 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.5 AP4S1 DDHD2 GBA2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.5 DDHD2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-135 9.5 GBA2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-158 9.5 DDHD2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.5 AP4S1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.5 DDHD2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.5 GBA2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-188 9.5 AP4S1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.5 AP4S1 GBA2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.5 AP4S1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.5 DDHD2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.5 DDHD2
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Drugs & Therapeutics for Spastic Paraplegia 56, Autosomal Recessive

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

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Genetic Tests for Spastic Paraplegia 56, Autosomal Recessive

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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

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

41
Globus Pallidus, Skin, Bone, Eye
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Publications for Spastic Paraplegia 56, Autosomal Recessive

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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 )
2018
2
Long-term follow-up in spastic paraplegia due to SPG56/CYP2U1: age-dependency rather than genetic variability? ( 28120039 )
2017
3
An atypical case of SPG56/CYP2U1-related spastic paraplegia presenting with delayed myelination. ( 28725025 )
2017
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Variations for Spastic Paraplegia 56, Autosomal Recessive

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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 17)
# Gene Variation Type Significance SNP ID Assembly Location
1 CYP2U1 NM_183075.2(CYP2U1): c.947A> T (p.Asp316Val) single nucleotide variant Pathogenic rs397514513 GRCh37 Chromosome 4, 108866582: 108866582
2 CYP2U1 NM_183075.2(CYP2U1): c.947A> T (p.Asp316Val) single nucleotide variant Pathogenic rs397514513 GRCh38 Chromosome 4, 107945426: 107945426
3 CYP2U1 NM_183075.2(CYP2U1): c.1139A> G (p.Glu380Gly) single nucleotide variant Pathogenic rs397514514 GRCh37 Chromosome 4, 108868544: 108868544
4 CYP2U1 NM_183075.2(CYP2U1): c.1139A> G (p.Glu380Gly) single nucleotide variant Pathogenic rs397514514 GRCh38 Chromosome 4, 107947388: 107947388
5 CYP2U1 CYP2U1, 13-BP DEL, NT61 deletion Pathogenic
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
16 CYP2U1 NM_183075.2(CYP2U1): c.1168C> T (p.Arg390Ter) single nucleotide variant Pathogenic rs772400670 GRCh37 Chromosome 4, 108868573: 108868573
17 CYP2U1 NM_183075.2(CYP2U1): c.1168C> T (p.Arg390Ter) single nucleotide variant Pathogenic rs772400670 GRCh38 Chromosome 4, 107947417: 107947417
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Expression for Spastic Paraplegia 56, Autosomal Recessive

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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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Sources for Spastic Paraplegia 56, Autosomal Recessive

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
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54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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