Autosomal recessive spastic paraplegia type 54

General Information (adopted from Orphanet):

Synonyms, Signs: SPG54
Number of Symptoms 22
OrphanetNr: 320380
OMIM Id: 615033
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:0000020) Urinary incontinence rare [HPO:skoehler] 75 / 7739
2
(HPO:0000506) Telecanthus 156 / 7739
3
(HPO:0000218) High palate rare [HPO:skoehler] 356 / 7739
4
(HPO:0000609) Optic nerve hypoplasia rare [HPO:skoehler] 26 / 7739
5
(HPO:0000486) Strabismus 576 / 7739
6
(HPO:0003487) Babinski sign 179 / 7739
7
(HPO:0002015) Dysphagia 301 / 7739
8
(HPO:0001249) Intellectual disability 1089 / 7739
9
(HPO:0001263) Global developmental delay 853 / 7739
10
(HPO:0001347) Hyperreflexia 363 / 7739
11
(HPO:0001258) Spastic paraplegia 97 / 7739
12
(HPO:0001260) Dysarthria 329 / 7739
13
(HPO:0002019) Constipation rare [HPO:skoehler] 194 / 7739
14
(HPO:0002607) Bowel incontinence rare [HPO:skoehler] 33 / 7739
15
(HPO:0004322) Short stature 1232 / 7739
16
(HPO:0007340) Lower limb muscle weakness 61 / 7739
17
(HPO:0003676) Progressive disorder 148 / 7739
18
(OMIM) Spinal cord syrinx (in 2 patients) 1 / 7739
19
(HPO:0002518) Abnormality of the periventricular white matter 24 / 7739
20
(OMIM) Abnormal lipid peak on brain MRS 1 / 7739
21
(OMIM) Foot contractures 1 / 7739
22
(HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Spastic paraplegia-54 is a complicated form of spastic paraplegia, a neurodegenerative disorder affecting fibers of the corticospinal tract. Affected individuals have delayed psychomotor development, intellectual disability, and early-onset spasticity of the lower limbs. Brain MRI shows a thin ...
Clinical Description OMIM Schuurs-Hoeijmakers et al. (2012) reported 2 unrelated families in which 2 sibs in each family had early-onset spastic paraplegia and intellectual disability. Subsequently, a large Omani family and an unrelated Iranian patient with a similar disorder were ascertained. ...
Molecular genetics OMIM By exome sequencing of 2 unrelated families with a complex form of autosomal recessive spastic paraplegia, Schuurs-Hoeijmakers et al. (2012) identified biallelic mutations in the DDHD2 gene (615003.0001-615003.0004). The mutations segregated with the phenotype in both families. Different ...