Autosomal recessive spastic paraplegia type 63 (SPG63) is an extremely rare and complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with delayed walking and a scissors gait) associated with short stature, and normal cognition. Periventricular deep white matter changes in the corpus callosum are noted on brain imaging. SPG63 is caused by a homozygous mutation in the <i>AMPD2</i> gene (1p13.3) encoding AMP deaminase 2.
Matched Phenotype
Gene
Mutation
MeSH
Rank
(Similarity) |
PMID
(PMCID) |
Phenotype(s) retrieved from Orphanet
Total: 9
| HPO ID |
Term |
Frequency |
| HP:0001257 |
Spasticity |
Frequent (79-30%) |
| HP:0001276 |
Hypertonia |
Frequent (79-30%) |
| HP:0001347 |
Hyperreflexia |
Frequent (79-30%) |
| HP:0002194 |
Delayed gross motor development |
Frequent (79-30%) |
| HP:0003202 |
Skeletal muscle atrophy |
Frequent (79-30%) |
| HP:0004322 |
Short stature |
Frequent (79-30%) |
| HP:0004325 |
Decreased body weight |
Frequent (79-30%) |
| HP:0012407 |
Scissor gait |
Frequent (79-30%) |
| HP:0002518 |
Abnormality of the periventricular white matter |
Occasional (29-5%) |
Phenotype(s) retrieved from case reports
Total: 0
| HPO ID |
Term |
# of case reports |
Causative gene(s) retrieved from Orphanet
Total: 1
| Gene Symbol |
Gene Name |
Entrez Gene ID |
| AMPD2 |
adenosine monophosphate deaminase 2 |
271 |
