SPG55
MCID: SPS119
MIFTS: 40

Spastic Paraplegia 55, Autosomal Recessive (SPG55)

Categories: Bone diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Spastic Paraplegia 55, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 55, Autosomal Recessive:

Name: Spastic Paraplegia 55, Autosomal Recessive 57 72 29 13 6 70
Spg55 57 12 58 72
Autosomal Recessive Spastic Paraplegia Type 55 12 58
Hereditary Spastic Paraplegia 55 12 15
Paraplegia, Spastic, Autosomal Recessive, Type 55 39
Autosomal Recessive Spastic Paraplegia 55 12

Characteristics:

Orphanet epidemiological data:

58

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
onset of visual loss in the first decade
onset of slowly progressive spastic paraplegia in first or second decade


HPO:

31
spastic paraplegia 55, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Inborn errors of metabolism


Summaries for Spastic Paraplegia 55, Autosomal Recessive

UniProtKB/Swiss-Prot : 72 Spastic paraplegia 55, 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.

MalaCards based summary : Spastic Paraplegia 55, Autosomal Recessive, also known as spg55, is related to 3-methylglutaconic aciduria, type iii and neuropathy, and has symptoms including clonus An important gene associated with Spastic Paraplegia 55, Autosomal Recessive is MTRFR (Mitochondrial Translation Release Factor In Rescue). Affiliated tissues include eye and skeletal muscle, and related phenotypes are hyperreflexia and optic atrophy

Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the C12ORF65 gene on chromosome 12q24.

More information from OMIM: 615035 PS303350

Related Diseases for Spastic Paraplegia 55, 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
Spastic Paraplegia 83, 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 55, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 84)
# Related Disease Score Top Affiliating Genes
1 3-methylglutaconic aciduria, type iii 29.5 SPG7 MTRFR GDAP1
2 neuropathy 29.1 ZFYVE26 SPG7 SPG11 MTRFR GDAP1 COX6A1
3 paraplegia 28.3 ZFYVE26 SPG7 SPG21 SPG11 MTRFR IBA57
4 hereditary spastic paraplegia 28.3 ZFYVE26 SPG7 SPG21 SPG11 MTRFR IBA57
5 complex hereditary spastic paraplegia 10.3 SPG7 SPG11
6 spastic paraplegia 44, autosomal recessive 10.2 SPG21 SPG11
7 spastic paraplegia 29, autosomal dominant 10.2 ZFYVE26 SPG21
8 spastic paraplegia 25, autosomal recessive 10.2 ZFYVE26 SPG21
9 spastic paraplegia 19, autosomal dominant 10.2 ZFYVE26 SPG21
10 spastic paraplegia 37, autosomal dominant 10.2 ZFYVE26 SPG21
11 spastic paraplegia 34, x-linked 10.2 ZFYVE26 SPG21
12 neuropathy, hereditary motor and sensory, type via, with optic atrophy 10.2 SPG7 MTRFR
13 spastic paraplegia 7, autosomal recessive 10.2 SPG7 SPG11
14 behr syndrome 10.2 SPG7 MTRFR
15 spastic paraplegia 45, autosomal recessive 10.2 SPG21 SPG11
16 spastic paraplegia 26, autosomal recessive 10.2 SPG21 SPG11
17 neuropathy, hereditary sensory, type iic 10.2 SPG21 SPG11 MTRFR
18 mast syndrome 10.2 SPG21 SPG11
19 amyotrophic lateral sclerosis type 5 10.1 ZFYVE26 SPG11
20 spastic paraplegia 16, x-linked 10.1 SPG7 SPG21 SPG11
21 hereditary spastic paraplegia 30 10.1 SPG7 SPG21 SPG11
22 charcot-marie-tooth disease, axonal, type 2k 10.1 GDAP1 DNAJB2
23 spastic paraplegia 32, autosomal recessive 10.1 SPG7 SPG21 SPG11
24 spastic paraplegia 14, autosomal recessive 10.1 SPG7 SPG21 SPG11
25 hereditary spastic paraplegia 23 10.1 ZFYVE26 SPG21 SPG11
26 spinocerebellar ataxia, autosomal recessive 20 10.1 ZFYVE26 SPG11
27 spastic paraplegia 64, autosomal recessive 10.1 ZFYVE26 SPG21 SPG11
28 spastic paraplegia 52, autosomal recessive 10.1 ZFYVE26 SPG21 SPG11
29 spastic paraplegia 61, autosomal recessive 10.1 ZFYVE26 SPG21 SPG11
30 spastic paraplegia 33, autosomal dominant 10.1 ZFYVE26 SPG21 SPG11
31 hereditary spastic paraplegia 72 10.1 ZFYVE26 SPG7 SPG11
32 spastic paraplegia 12, autosomal dominant 10.1 ZFYVE26 SPG21 SPG11
33 optic nerve disease 10.1 SPG7 MTRFR GDAP1
34 spastic paraplegia 5a, autosomal recessive 10.1 ZFYVE26 SPG7 SPG11
35 spastic paraplegia 42, autosomal dominant 10.1 ZFYVE26 SPG7 SPG11
36 charcot-marie-tooth disease, axonal, type 2a1 10.1 LRSAM1 GDAP1
37 ocular motility disease 10.1 SPG7 MTRFR
38 spastic paraplegia 20, autosomal recessive 10.0 ZFYVE26 SPG7 SPG21
39 spastic paraplegia 63, autosomal recessive 10.0 SPG7 SPG21 SPG11 MTRFR
40 spastic paraplegia 3, autosomal dominant 10.0 SPG7 SPG11
41 hereditary spastic paraplegia 51 9.9 ZFYVE26 SPG7 SPG21 SPG11
42 spastic paraplegia 50, autosomal recessive 9.9 ZFYVE26 SPG7 SPG21 SPG11
43 spastic paraplegia 11, autosomal recessive 9.9 ZFYVE26 SPG7 SPG21 SPG11
44 spastic paraplegia 6, autosomal dominant 9.9 ZFYVE26 SPG7 SPG21 SPG11
45 spastic paraplegia 73, autosomal dominant 9.9 SPG21 DDHD1
46 spastic paraplegia 31, autosomal dominant 9.9 ZFYVE26 SPG7 SPG21 SPG11
47 spastic paraplegia 15, autosomal recessive 9.9 ZFYVE26 SPG7 SPG21 SPG11
48 spastic paraplegia 47, autosomal recessive 9.9 ZFYVE26 SPG7 SPG21 SPG11
49 spastic paraplegia 35, autosomal recessive 9.9 ZFYVE26 SPG7 SPG21 SPG11
50 spastic paraplegia 8, autosomal dominant 9.9 ZFYVE26 SPG7 SPG21 SPG11

Graphical network of the top 20 diseases related to Spastic Paraplegia 55, Autosomal Recessive:



Diseases related to Spastic Paraplegia 55, Autosomal Recessive

Symptoms & Phenotypes for Spastic Paraplegia 55, Autosomal Recessive

Human phenotypes related to Spastic Paraplegia 55, Autosomal Recessive:

58 31 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperreflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001347
2 optic atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000648
3 intellectual disability, mild 58 31 frequent (33%) Frequent (79-30%) HP:0001256
4 skeletal muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003202
5 talipes equinovarus 58 31 frequent (33%) Frequent (79-30%) HP:0001762
6 reduced visual acuity 58 31 occasional (7.5%) Frequent (79-30%) HP:0007663
7 babinski sign 58 31 frequent (33%) Frequent (79-30%) HP:0003487
8 hypoplasia of the corpus callosum 58 31 occasional (7.5%) Frequent (79-30%) HP:0002079
9 optic neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0001138
10 spastic paraparesis 58 31 frequent (33%) Frequent (79-30%) HP:0002313
11 distal sensory impairment 58 31 frequent (33%) Frequent (79-30%) HP:0002936
12 poor fine motor coordination 58 31 frequent (33%) Frequent (79-30%) HP:0007010
13 upper limb muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003484
14 foot dorsiflexor weakness 58 31 frequent (33%) Frequent (79-30%) HP:0009027
15 tibialis muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0008963
16 decreased sensory nerve conduction velocity 58 31 frequent (33%) Frequent (79-30%) HP:0003448
17 focal white matter lesions 58 31 frequent (33%) Frequent (79-30%) HP:0007042
18 onion bulb formation 58 31 frequent (33%) Frequent (79-30%) HP:0003383
19 abnormal facial shape 58 31 occasional (7.5%) Occasional (29-5%) HP:0001999
20 cognitive impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0100543
21 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
22 ophthalmoplegia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000602
23 arthrogryposis multiplex congenita 58 31 occasional (7.5%) Occasional (29-5%) HP:0002804
24 intellectual disability 31 occasional (7.5%) HP:0001249
25 nystagmus 31 occasional (7.5%) HP:0000639
26 global developmental delay 31 occasional (7.5%) HP:0001263
27 spasticity 58 Frequent (79-30%)
28 clonus 31 HP:0002169
29 muscle weakness 31 HP:0001324
30 peripheral neuropathy 58 Frequent (79-30%)
31 spastic paraplegia 31 HP:0001258
32 steppage gait 31 HP:0003376
33 lower limb spasticity 58 Frequent (79-30%)
34 difficulty walking 31 HP:0002355
35 peripheral axonal neuropathy 31 HP:0003477
36 central scotoma 31 HP:0000603
37 lower limb muscle weakness 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
hyperreflexia
clonus
spastic paraplegia
steppage gait
difficulty walking
more
Neurologic Peripheral Nervous System:
distal sensory impairment
onion bulb formation
axonal neuropathy
decreased or normal sensory and motor nerve conduction velocities
sural nerve biopsy showed loss of large myelinated fibers

Skeletal:
arthrogryposis of the small joints

Head And Neck Eyes:
strabismus
optic atrophy (in some patients)
nystagmus (in some patients)
decreased visual acuity (in some patients)
central scotoma (in some patients)

Skeletal Feet:
pes equinovarus

Muscle Soft Tissue:
distal muscle atrophy, predominantly affecting the lower limbs
distal muscle weakness, predominantly affecting the lower limbs
decreased mitochondrial respiratory activities (in some patients)

Clinical features from OMIM®:

615035 (Updated 05-Apr-2021)

UMLS symptoms related to Spastic Paraplegia 55, Autosomal Recessive:


clonus

MGI Mouse Phenotypes related to Spastic Paraplegia 55, Autosomal Recessive:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.65 COX6A1 CYP2U1 DNAJB2 GDAP1 LRSAM1 LYST
2 nervous system MP:0003631 9.23 COX6A1 GDAP1 LRSAM1 LYST SPG11 SPG21

Drugs & Therapeutics for Spastic Paraplegia 55, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 55, Autosomal Recessive

Genetic Tests for Spastic Paraplegia 55, Autosomal Recessive

Genetic tests related to Spastic Paraplegia 55, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Spastic Paraplegia 55, Autosomal Recessive 29 MTRFR

Anatomical Context for Spastic Paraplegia 55, Autosomal Recessive

MalaCards organs/tissues related to Spastic Paraplegia 55, Autosomal Recessive:

40
Eye, Skeletal Muscle

Publications for Spastic Paraplegia 55, Autosomal Recessive

Articles related to Spastic Paraplegia 55, Autosomal Recessive:

# Title Authors PMID Year
1
A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55). 6 61 57
23188110 2012
2
Delineation of C12orf65-related phenotypes: a genotype-phenotype relationship. 57 6
24424123 2014
3
Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy. 6 57
24198383 2014
4
Mutations in the mitochondrial gene C12ORF65 lead to syndromic autosomal recessive intellectual disability and show genotype phenotype correlation. 6 57
24080142 2013
5
Autosomal recessive hereditary motor and sensory neuropathy with mental retardation, optic atrophy and pyramidal signs. 57 6
3479531 1987
6
Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect. 6
20598281 2010
7
[Two siblings with spastic paraplegia, optic atrophy and peripheral neuropathy]. 57
6303658 1982
8
ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease. 61
26556829 2016
9
[Clinical aspects of hereditary spastic paraplegias]. 61
25519961 2014

Variations for Spastic Paraplegia 55, Autosomal Recessive

ClinVar genetic disease variations for Spastic Paraplegia 55, Autosomal Recessive:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MTRFR NM_152269.5(MTRFR):c.346del (p.Lys115_Val116insTer) Deletion Pathogenic 91408 rs398122972 GRCh37: 12:123741423-123741423
GRCh38: 12:123256876-123256876
2 MTRFR NM_152269.5(MTRFR):c.413_417del (p.Lys138fs) Deletion Pathogenic 144068 rs587777667 GRCh37: 12:123741488-123741492
GRCh38: 12:123256941-123256945
3 MTRFR NM_152269.5(MTRFR):c.282+2T>A SNV Pathogenic 144069 rs587777668 GRCh37: 12:123738505-123738505
GRCh38: 12:123253958-123253958
4 MTRFR NM_152269.5(MTRFR):c.394C>T (p.Arg132Ter) SNV Pathogenic 39582 rs397514539 GRCh37: 12:123741471-123741471
GRCh38: 12:123256924-123256924
5 MTRFR NM_152269.5(MTRFR):c.248del (p.Val83fs) Deletion Pathogenic 53 rs587776508 GRCh37: 12:123738469-123738469
GRCh38: 12:123253922-123253922
6 MTRFR NM_152269.5(MTRFR):c.127_146del (p.Met43fs) Deletion Pathogenic 983270 GRCh37: 12:123738348-123738367
GRCh38: 12:123253801-123253820
7 MTRFR NM_152269.5(MTRFR):c.415C>T (p.Gln139Ter) SNV Likely pathogenic 88864 rs398122365 GRCh37: 12:123741492-123741492
GRCh38: 12:123256945-123256945
8 MTRFR NM_152269.5(MTRFR):c.215G>C (p.Gly72Ala) SNV Uncertain significance 931369 GRCh37: 12:123738436-123738436
GRCh38: 12:123253889-123253889
9 MTRFR NM_152269.5(MTRFR):c.347T>C (p.Val116Ala) SNV Uncertain significance 547960 rs374464556 GRCh37: 12:123741424-123741424
GRCh38: 12:123256877-123256877

Expression for Spastic Paraplegia 55, Autosomal Recessive

Search GEO for disease gene expression data for Spastic Paraplegia 55, Autosomal Recessive.

Pathways for Spastic Paraplegia 55, Autosomal Recessive

GO Terms for Spastic Paraplegia 55, Autosomal Recessive

Cellular components related to Spastic Paraplegia 55, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.1 SPG7 MTRFR IBA57 GDAP1 CYP2U1 COX6A1

Biological processes related to Spastic Paraplegia 55, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lysosome organization GO:0007040 8.96 SPG11 LYST
2 mitochondrial fusion GO:0008053 8.62 SPG7 GDAP1

Sources for Spastic Paraplegia 55, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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