MCID: SPS119
MIFTS: 34

Spastic Paraplegia 55, Autosomal Recessive

Categories: Genetic diseases, Neuronal diseases, Eye diseases, Metabolic diseases, Rare diseases, Gastrointestinal diseases, Bone diseases, Mental 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 75 29 13 6 73
Spg55 57 12 59 75
Autosomal Recessive Spastic Paraplegia Type 55 12 59
Hereditary Spastic Paraplegia 55 12 15
Paraplegia, Spastic, Autosomal Recessive, Type 55 40
Autosomal Recessive Spastic Paraplegia 55 12

Characteristics:

Orphanet epidemiological data:

59

OMIM:

57
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:

32
spastic paraplegia 55, autosomal recessive:
Onset and clinical course variable expressivity
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Spastic Paraplegia 55, Autosomal Recessive

UniProtKB/Swiss-Prot : 75 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 paraplegia, and has symptoms including clonus An important gene associated with Spastic Paraplegia 55, Autosomal Recessive is C12orf65 (Chromosome 12 Open Reading Frame 65). Affiliated tissues include skeletal muscle and eye, and related phenotypes are optic atrophy and optic neuropathy

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

Description from OMIM: 615035

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 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 55, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 18)
# Related Disease Score Top Affiliating Genes
1 3-methylglutaconic aciduria, type iii 9.9
2 paraplegia 9.9
3 neuropathy 9.9
4 spasticity 9.9
5 spastic paraplegia 56, autosomal recessive 9.5 COX6A1 TRIM2
6 spastic paraplegia 46, autosomal recessive 9.0 COX6A1 SPG21 TRIM2
7 charcot-marie-tooth disease intermediate type 8.7 COX6A1 DNAJB2 TRIM2
8 charcot-marie-tooth disease 8.3 COX6A1 DNAJB2 TRIM2
9 charcot-marie-tooth disease type 2a2 8.2 COX6A1 DNAJB2 SPG21 TRIM2
10 charcot-marie-tooth disease, axonal, type 2b2 8.2 COX6A1 DNAJB2 SPG21 TRIM2
11 amyotrophic lateral sclerosis type 5 8.2 COX6A1 DNAJB2 SPG21 TRIM2
12 charcot-marie-tooth disease, axonal, type 2b1 8.2 COX6A1 DNAJB2 SPG21 TRIM2
13 charcot-marie-tooth disease, axonal, type 2h 7.8 C12orf65 COX6A1 DNAJB2 SPG21 TRIM2
14 charcot-marie-tooth disease, axonal, type 2p 7.8 C12orf65 COX6A1 DNAJB2 SPG21 TRIM2
15 charcot-marie-tooth disease, axonal, type 2r 7.8 C12orf65 COX6A1 DNAJB2 SPG21 TRIM2
16 charcot-marie-tooth disease, recessive intermediate d 7.7 C12orf65 COX6A1 DNAJB2 SPG21 TRIM2
17 charcot-marie-tooth disease, axonal, type 2t 7.7 C12orf65 COX6A1 DNAJB2 SPG21 TRIM2
18 charcot-marie-tooth disease, axonal, type 2e 7.6 C12orf65 COX6A1 DNAJB2 SPG21 TRIM2

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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
hyperreflexia
clonus
difficulty walking
spastic paraplegia
steppage gait
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

Human phenotypes related to Spastic Paraplegia 55, Autosomal Recessive:

59 32 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 optic atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0000648
2 optic neuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0001138
3 intellectual disability, mild 59 32 frequent (33%) Frequent (79-30%) HP:0001256
4 hyperreflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001347
5 talipes equinovarus 59 32 frequent (33%) Frequent (79-30%) HP:0001762
6 hypoplasia of the corpus callosum 59 32 occasional (7.5%) Frequent (79-30%) HP:0002079
7 spastic paraparesis 59 32 frequent (33%) Frequent (79-30%) HP:0002313
8 distal sensory impairment 59 32 frequent (33%) Frequent (79-30%) HP:0002936
9 skeletal muscle atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0003202
10 onion bulb formation 59 32 frequent (33%) Frequent (79-30%) HP:0003383
11 decreased sensory nerve conduction velocity 59 32 frequent (33%) Frequent (79-30%) HP:0003448
12 upper limb muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0003484
13 babinski sign 59 32 frequent (33%) Frequent (79-30%) HP:0003487
14 poor fine motor coordination 59 32 frequent (33%) Frequent (79-30%) HP:0007010
15 focal white matter lesions 59 32 frequent (33%) Frequent (79-30%) HP:0007042
16 reduced visual acuity 59 32 occasional (7.5%) Frequent (79-30%) HP:0007663
17 tibialis muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0008963
18 foot dorsiflexor weakness 59 32 frequent (33%) Frequent (79-30%) HP:0009027
19 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
20 ophthalmoplegia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000602
21 abnormal facial shape 59 32 occasional (7.5%) Occasional (29-5%) HP:0001999
22 arthrogryposis multiplex congenita 59 32 occasional (7.5%) Occasional (29-5%) HP:0002804
23 cognitive impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0100543
24 spasticity 59 Frequent (79-30%)
25 lower limb spasticity 59 Frequent (79-30%)
26 lower limb muscle weakness 59 Frequent (79-30%)
27 peripheral neuropathy 59 Frequent (79-30%)
28 visual impairment 32 HP:0000505
29 central scotoma 32 HP:0000603
30 nystagmus 32 occasional (7.5%) HP:0000639
31 intellectual disability 32 occasional (7.5%) HP:0001249
32 spastic paraplegia 32 HP:0001258
33 global developmental delay 32 occasional (7.5%) HP:0001263
34 clonus 32 HP:0002169
35 difficulty walking 32 HP:0002355
36 steppage gait 32 HP:0003376
37 peripheral axonal neuropathy 32 HP:0003477

UMLS symptoms related to Spastic Paraplegia 55, Autosomal Recessive:


clonus

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 C12orf65

Anatomical Context for Spastic Paraplegia 55, Autosomal Recessive

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

41
Skeletal Muscle, Eye

Publications for Spastic Paraplegia 55, Autosomal Recessive

Variations for Spastic Paraplegia 55, Autosomal Recessive

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 C12orf65 NM_152269.4(C12orf65): c.394C> T (p.Arg132Ter) single nucleotide variant Pathogenic rs397514539 GRCh37 Chromosome 12, 123741471: 123741471
2 C12orf65 NM_152269.4(C12orf65): c.394C> T (p.Arg132Ter) single nucleotide variant Pathogenic rs397514539 GRCh38 Chromosome 12, 123256924: 123256924
3 C12orf65 NM_152269.4(C12orf65): c.415C> T (p.Gln139Ter) single nucleotide variant Pathogenic rs398122365 GRCh37 Chromosome 12, 123741492: 123741492
4 C12orf65 NM_152269.4(C12orf65): c.415C> T (p.Gln139Ter) single nucleotide variant Pathogenic rs398122365 GRCh38 Chromosome 12, 123256945: 123256945
5 C12orf65 NM_152269.4(C12orf65): c.346delG (p.Val116Terfs) deletion Pathogenic rs398122972 GRCh37 Chromosome 12, 123741423: 123741423
6 C12orf65 NM_152269.4(C12orf65): c.346delG (p.Val116Terfs) deletion Pathogenic rs398122972 GRCh38 Chromosome 12, 123256876: 123256876
7 C12orf65 NM_152269.4(C12orf65): c.413_417delAACAA (p.Lys138Argfs) deletion Pathogenic rs587777667 GRCh37 Chromosome 12, 123741490: 123741494
8 C12orf65 NM_152269.4(C12orf65): c.413_417delAACAA (p.Lys138Argfs) deletion Pathogenic rs587777667 GRCh38 Chromosome 12, 123256943: 123256947
9 C12orf65 NM_152269.4(C12orf65): c.282+2T> A single nucleotide variant Pathogenic rs587777668 GRCh37 Chromosome 12, 123738505: 123738505
10 C12orf65 NM_152269.4(C12orf65): c.282+2T> A single nucleotide variant Pathogenic rs587777668 GRCh38 Chromosome 12, 123253958: 123253958

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

Sources for Spastic Paraplegia 55, Autosomal Recessive

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64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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