MCID: SPS104
MIFTS: 25

Spastic Paraplegia 53, Autosomal Recessive

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Eye diseases, Gastrointestinal diseases, Bone diseases, Mental diseases, Metabolic diseases

Aliases & Classifications for Spastic Paraplegia 53, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 53, Autosomal Recessive:

Name: Spastic Paraplegia 53, Autosomal Recessive 57 75 29 13 6 73
Spg53 57 12 59 75
Autosomal Recessive Spastic Paraplegia Type 53 12 59
Paraplegia, Spastic, Type 53, Autosomal Recessive 40
Autosomal Recessive Spastic Paraplegia 53 12
Hereditary Spastic Paraplegia 53 12

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive spastic paraplegia type 53
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in the first 2 years of life
two arab muslim families have been reported (last curated october 2012)


HPO:

32
spastic paraplegia 53, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Spastic Paraplegia 53, Autosomal Recessive

UniProtKB/Swiss-Prot : 75 Spastic paraplegia 53, 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. SPG53 is characterized by pronounced early onset spastic paraparesis of upper and lower limbs, mild intellectual disability, kyphosis, pectus carinatum and hypertrichosis.

MalaCards based summary : Spastic Paraplegia 53, Autosomal Recessive, is also known as spg53, and has symptoms including clonus An important gene associated with Spastic Paraplegia 53, Autosomal Recessive is VPS37A (VPS37A, ESCRT-I Subunit). Related phenotypes are failure to thrive and clonus

Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the VPS37A gene on chromosome 8p22.

OMIM : 57 SPG53 is an autosomal recessive neurologic disorder characterized by onset in infancy of delayed motor development progressing to upper and lower limb spasticity with impaired walking. Affected individuals also show mild to moderate cognitive impairment (summary by Zivony-Elboum et al., 2012). (614898)

Related Diseases for Spastic Paraplegia 53, 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

Symptoms & Phenotypes for Spastic Paraplegia 53, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
hyperreflexia
clonus
delayed psychomotor development
gait difficulties
delayed speech
more
Muscle Soft Tissue:
increased muscle tone

Skin Nails Hair Hair:
hypertrichosis (in 3 patients)

Skeletal Spine:
kyphosis

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum (in some)

Neurologic Peripheral Nervous System:
decreased vibration or position sense (in 3 patients)


Clinical features from OMIM:

614898

Human phenotypes related to Spastic Paraplegia 53, Autosomal Recessive:

59 32 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 59 32 very rare (1%) Very rare (<4-1%) HP:0001508
2 clonus 59 32 hallmark (90%) Very frequent (99-80%) HP:0002169
3 kyphosis 59 32 frequent (33%) Frequent (79-30%) HP:0002808
4 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
5 delayed speech and language development 59 32 frequent (33%) Frequent (79-30%) HP:0000750
6 pectus carinatum 59 32 occasional (7.5%) Frequent (79-30%) HP:0000768
7 microcephaly 59 32 very rare (1%) Very rare (<4-1%) HP:0000252
8 joint hyperflexibility 59 32 frequent (33%) Frequent (79-30%) HP:0005692
9 impaired proprioception 59 32 very rare (1%) Very rare (<4-1%) HP:0010831
10 ventriculomegaly 59 32 very rare (1%) Very rare (<4-1%) HP:0002119
11 cortical dysplasia 59 32 very rare (1%) Very rare (<4-1%) HP:0002539
12 impaired vibratory sensation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002495
13 hyperreflexia in upper limbs 59 32 hallmark (90%) Very frequent (99-80%) HP:0007350
14 upper limb hypertonia 59 32 frequent (33%) Frequent (79-30%) HP:0200049
15 limb dystonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002451
16 abnormality of the auditory canal 59 32 very rare (1%) Very rare (<4-1%) HP:0000372
17 gait disturbance 32 HP:0001288
18 global developmental delay 32 HP:0001263
19 hypertonia 32 HP:0001276
20 cognitive impairment 32 HP:0100543
21 dystonia 32 occasional (7.5%) HP:0001332
22 spastic paraplegia 32 HP:0001258
23 hypertrichosis 32 HP:0000998

UMLS symptoms related to Spastic Paraplegia 53, Autosomal Recessive:


clonus

Drugs & Therapeutics for Spastic Paraplegia 53, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 53, Autosomal Recessive

Genetic Tests for Spastic Paraplegia 53, Autosomal Recessive

Genetic tests related to Spastic Paraplegia 53, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Spastic Paraplegia 53, Autosomal Recessive 29 VPS37A

Anatomical Context for Spastic Paraplegia 53, Autosomal Recessive

Publications for Spastic Paraplegia 53, Autosomal Recessive

Variations for Spastic Paraplegia 53, Autosomal Recessive

UniProtKB/Swiss-Prot genetic disease variations for Spastic Paraplegia 53, Autosomal Recessive:

75
# Symbol AA change Variation ID SNP ID
1 VPS37A p.Lys382Asn VAR_068424 rs211694394

ClinVar genetic disease variations for Spastic Paraplegia 53, Autosomal Recessive:

6
(show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 VPS37A NM_152415.2(VPS37A): c.1146A> T (p.Lys382Asn) single nucleotide variant Pathogenic rs211694394 GRCh38 Chromosome 8, 17286379: 17286379
2 VPS37A NM_152415.2(VPS37A): c.1146A> T (p.Lys382Asn) single nucleotide variant Pathogenic rs211694394 GRCh37 Chromosome 8, 17143888: 17143888
3 VPS37A NM_152415.2(VPS37A): c.616A> T (p.Ile206Phe) single nucleotide variant Benign rs17502618 GRCh37 Chromosome 8, 17132441: 17132441
4 VPS37A NM_152415.2(VPS37A): c.616A> T (p.Ile206Phe) single nucleotide variant Benign rs17502618 GRCh38 Chromosome 8, 17274932: 17274932
5 VPS37A NM_152415.2(VPS37A): c.1145A> C (p.Lys382Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 8, 17143887: 17143887
6 VPS37A NM_152415.2(VPS37A): c.1145A> C (p.Lys382Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 8, 17286378: 17286378
7 VPS37A NM_152415.2(VPS37A): c.866G> A (p.Ser289Asn) single nucleotide variant Uncertain significance rs376210724 GRCh38 Chromosome 8, 17280263: 17280263
8 VPS37A NM_152415.2(VPS37A): c.866G> A (p.Ser289Asn) single nucleotide variant Uncertain significance rs376210724 GRCh37 Chromosome 8, 17137772: 17137772
9 VPS37A NM_152415.2(VPS37A): c.1176A> G (p.Gln392=) single nucleotide variant Benign rs117336150 GRCh38 Chromosome 8, 17286409: 17286409
10 VPS37A NM_152415.2(VPS37A): c.1176A> G (p.Gln392=) single nucleotide variant Benign rs117336150 GRCh37 Chromosome 8, 17143918: 17143918
11 VPS37A NM_152415.2(VPS37A): c.700C> A (p.Leu234Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs150912414 GRCh37 Chromosome 8, 17133963: 17133963
12 VPS37A NM_152415.2(VPS37A): c.700C> A (p.Leu234Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs150912414 GRCh38 Chromosome 8, 17276454: 17276454
13 VPS37A NM_152415.2(VPS37A): c.96G> C (p.Leu32=) single nucleotide variant Likely benign rs199577037 GRCh37 Chromosome 8, 17104849: 17104849
14 VPS37A NM_152415.2(VPS37A): c.96G> C (p.Leu32=) single nucleotide variant Likely benign rs199577037 GRCh38 Chromosome 8, 17247340: 17247340
15 VPS37A NM_152415.2(VPS37A): c.834A> G (p.Glu278=) single nucleotide variant Benign rs541623528 GRCh37 Chromosome 8, 17137657: 17137657
16 VPS37A NM_152415.2(VPS37A): c.834A> G (p.Glu278=) single nucleotide variant Benign rs541623528 GRCh38 Chromosome 8, 17280148: 17280148

Expression for Spastic Paraplegia 53, Autosomal Recessive

Search GEO for disease gene expression data for Spastic Paraplegia 53, Autosomal Recessive.

Pathways for Spastic Paraplegia 53, Autosomal Recessive

GO Terms for Spastic Paraplegia 53, Autosomal Recessive

Sources for Spastic Paraplegia 53, Autosomal Recessive

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