Autosomal recessive spastic paraplegia type 53

General Information (adopted from Orphanet):

Synonyms, Signs: SPG53
Number of Symptoms 19
OrphanetNr: 319199
OMIM Id: 614898
ICD-10: G11.4
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal recessive complex spastic paraplegia
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001258) Spastic paraplegia 97 / 7739
2
 (HPO:0001263) Global developmental delay 853 / 7739
3
 (HPO:0001276) Hypertonia 317 / 7739
4
 (HPO:0001332) Dystonia rare [HPO:skoehler] 197 / 7739
5
 (HPO:0002169) Clonus 37 / 7739
6
 (HPO:0000750) Delayed speech and language development 197 / 7739
7
 (HPO:0001288) Gait disturbance 318 / 7739
8
 (HPO:0001347) Hyperreflexia 363 / 7739
9
 (HPO:0000768) Pectus carinatum rare [HPO:skoehler] 136 / 7739
10
 (HPO:0002808) Kyphosis 289 / 7739
11
 (HPO:0000917) Superior pectus carinatum 11 / 7739
12
 (HPO:0004554) Generalized hypertrichosis 30 / 7739
13
 (HPO:0002230) Generalized hirsutism 32 / 7739
14
 (HPO:0000998) Hypertrichosis 52 / 7739
15
 (HPO:0001007) Hirsutism 91 / 7739
16
 (OMIM) Decreased vibration or position sense (in 3 patients) 1 / 7739
17
 (OMIM) Spasticity, upper and lower limbs 1 / 7739
18
 (OMIM) Unsteady standing 1 / 7739
19
 (OMIM) Cognitive impairment, mild to moderate 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Zivony-Elboum et al. (2012) reported 9 patients from 2 Arab Moslem families with early-onset spastic paraplegia. Affected individuals showed developmental and motor delay during the first 2 years of life. They had unsteadiness in standing and difficulty walking. ...
Molecular genetics OMIM By linkage analysis followed by candidate gene sequencing, Zivony-Elboum et al. (2012) identified a homozygous mutation in the VPS37A gene (K382N; 609927) in affected members of 2 families with SPG53. Although the mutant protein was expressed at normal ...