Autosomal recessive spastic paraplegia type 45

General Information (adopted from Orphanet):

Synonyms, Signs: SPG45
Number of Symptoms 38
OrphanetNr: 320396
OMIM Id: 613162
ICD-10: G11.4
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
24482476 [IBIS]
Age of onset: Infancy
24482476 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: AARSKOG SYNDROME, AUTOSOMAL DOMINANT
 -AARSKOG SYNDROME, AUTOSOMAL DOMINANT
Autosomal recessive complex spastic paraplegia
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000519) Congenital cataract 29123918 IBIS 73 / 7739
2
 (HPO:0000648) Optic atrophy 24482476; 29123918 IBIS 238 / 7739
3
 (HPO:0000639) Nystagmus 29123918 IBIS 555 / 7739
4
 (HPO:0000486) Strabismus 24482476; 29123918 IBIS 576 / 7739
5
 (HPO:0000540) Hypermetropia 29123918 IBIS 99 / 7739
6
 (HPO:0000545) Myopia 29123918 IBIS 286 / 7739
7
 (HPO:0000501) Glaucoma 24482476; 29123918 IBIS 180 / 7739
8
 (HPO:0004322) Short stature 24482476; 29123918 IBIS 1232 / 7739
9
 (HPO:0004325) Decreased body weight 24482476; 29123918 IBIS 492 / 7739
10
 (HPO:0008936) Muscular hypotonia of the trunk 28327087 IBIS 77 / 7739
11
 (HPO:0002169) Clonus 24482476 IBIS 37 / 7739
12
 (HPO:0011448) Ankle clonus 28327087 IBIS 31 / 7739
13
 (HPO:0003487) Babinski sign 29123918 IBIS 179 / 7739
14
 (HPO:0006801) Hyperactive deep tendon reflexes 24482476; 29123918 IBIS 21 / 7739
15
 (HPO:0002061) Lower limb spasticity 28327087 IBIS 56 / 7739
16
 (HPO:0001258) Spastic paraplegia 24482476; 29123918 IBIS 97 / 7739
17
 (HPO:0002064) Spastic gait 24482476; 29123918 IBIS 46 / 7739
18
 (HPO:0000718) Aggressive behavior 29123918 IBIS 109 / 7739
19
 (HPO:0001260) Dysarthria 29123918 IBIS 329 / 7739
20
 (HPO:0001263) Global developmental delay 29123918; 28327087 IBIS 853 / 7739
21
 (HPO:0001249) Intellectual disability 24482476; 29123918 IBIS 1089 / 7739
22
 (HPO:0100543) Cognitive impairment 28327087 IBIS 230 / 7739
23
 (HPO:0000750) Delayed speech and language development 28327087 IBIS 197 / 7739
24
 (HPO:0001288) Gait disturbance 24482476; 29123918 IBIS 318 / 7739
25
 (HPO:0012407) Scissor gait 28327087 IBIS 6 / 7739
26
 (HPO:0002317) Unsteady gait 28327087 IBIS 45 / 7739
27
 (HPO:0001762) Talipes equinovarus rare [HPO:skoehler] 24482476; 29123918; 28327087 IBIS 309 / 7739
28
 (HPO:0002816) Genu recurvatum 24482476 IBIS 30 / 7739
29
 (HPO:0006380) Knee flexion contracture 24482476 IBIS 56 / 7739
30
 (HPO:0003307) Hyperlordosis 29123918 IBIS 122 / 7739
31
 (HPO:0002938) Lumbar hyperlordosis 28327087 IBIS 73 / 7739
32
 (HPO:0002079) Hypoplasia of the corpus callosum 24482476; 29123918 IBIS 161 / 7739
33
 (HPO:0010677) Enuresis nocturna 24482476 IBIS 7 / 7739
34
 (HPO:0012447) Abnormal myelination 24482476 IBIS 7 / 7739
35
 (HPO:0002500) Abnormality of the cerebral white matter 29123918 IBIS 73 / 7739
36
 (HPO:0001273) Abnormality of the corpus callosum 24482476 IBIS 20 / 7739
37
 (HPO:0006989) Dysplastic corpus callosum 24482476 IBIS 7 / 7739
38
 (HPO:0030051) Tip-toe gait 28327087 IBIS 10 / 7739

Associated genes:

NT5C2;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Dursun et al. (2009) reported a consanguineous Turkish family in which 5 individuals had a form of complicated spastic paraplegia with mental retardation. Age at examination ranged from 22 to 33 years, but onset was at birth. The patients ...