X-linked spastic paraplegia type 16

General Information (adopted from Orphanet):

Synonyms, Signs: SPG16
Number of Symptoms 26
OrphanetNr: 100997
OMIM Id: 300266
ICD-10: G11.4
UMLs: C1846046
MeSH: C536643
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 1 family [Orphanet]
Inheritance: X-linked recessive
X-linked
[Orphanet]
Age of onset: Juvenile onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: Pure or complex X-linked spastic paraplegia
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000012) Urinary urgency 35 / 7739
2
(HPO:0000020) Urinary incontinence 75 / 7739
3
(HPO:0002839) Urinary bladder sphincter dysfunction 34 / 7739
4
(HPO:0000327) Hypoplasia of the maxilla 129 / 7739
5
(HPO:0000297) Facial hypotonia 8 / 7739
6
(HPO:0000486) Strabismus 576 / 7739
7
(HPO:0000505) Visual impairment 297 / 7739
8
(HPO:0000720) Mood swings 6 / 7739
9
(HPO:0002445) Tetraplegia 26 / 7739
10
(HPO:0002061) Lower limb spasticity 56 / 7739
11
(HPO:0000711) Restlessness 18 / 7739
12
(HPO:0003487) Babinski sign 179 / 7739
13
(HPO:0001249) Intellectual disability 1089 / 7739
14
(HPO:0000744) Low frustration tolerance 3 / 7739
15
(HPO:0001347) Hyperreflexia 363 / 7739
16
(HPO:0002427) Motor aphasia 2 / 7739
17
(HPO:0002362) Shuffling gait 13 / 7739
18
(HPO:0001258) Spastic paraplegia 97 / 7739
19
(HPO:0007256) Abnormal pyramidal signs 116 / 7739
20
(HPO:0009882) Short distal phalanx of finger 125 / 7739
21
(HPO:0007340) Lower limb muscle weakness 61 / 7739
22
(HPO:0007210) Lower limb amyotrophy 7 / 7739
23
(OMIM) Short, thick distal phalanges 1 / 7739
24
(OMIM) Bowel dysfunction 1 / 7739
25
(OMIM) Lower limb hypotrophy 1 / 7739
26
(OMIM) Reduced vision 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Spastic paraplegias (SPGs) are a genetically heterogeneous group of neurologic disorders characterized by progressive weakness and spasticity of the legs. Complicated SPGs are accompanied by additional neurologic symptoms such as cerebellar ataxia, sensory loss, mental retardation, nystagmus, and ...
Clinical Description OMIM Steinmuller et al. (1997) studied a 4-generation family with severe complicated X-linked spastic paraplegia. There were 5 living affected males at the time of study. The patients were quadriplegic and had motor aphasia, reduced vision, mild mental retardation, ...