MCID: SPS198
MIFTS: 21

Spastic Paraplegia 16, X-Linked

Categories: Neuronal diseases, Rare diseases, Genetic diseases, Eye diseases

Aliases & Classifications for Spastic Paraplegia 16, X-Linked

MalaCards integrated aliases for Spastic Paraplegia 16, X-Linked:

Name: Spastic Paraplegia 16, X-Linked 57 73
Spg16 57 12 59
Spastic Paraplegia 16, X-Linked, Complicated 57 13
X-Linked Spastic Paraplegia Type 16 12 59
Hereditary Spastic Paraplegia 16 12
X-Linked Spastic Paraplegia 16 12

Characteristics:

Orphanet epidemiological data:

59
x-linked spastic paraplegia type 16
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

57
Miscellaneous:
onset in early childhood

Inheritance:
x-linked recessive


HPO:

32
spastic paraplegia 16, x-linked:
Onset and clinical course juvenile onset
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 300266
Disease Ontology 12 DOID:0110769
ICD10 33 G11.4
Orphanet 59 ORPHA100997
MESH via Orphanet 45 C536643
UMLS via Orphanet 74 C1846046
ICD10 via Orphanet 34 G11.4
MedGen 42 C1846046
UMLS 73 C1846046

Summaries for Spastic Paraplegia 16, X-Linked

OMIM : 57 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 optic atrophy (summary by Steinmuller et al., 1997). A locus for spastic paraplegia-16 has been mapped to Xq11.2-q23 (Steinmuller et al., 1997). For a discussion of genetic heterogeneity of X-linked spastic paraplegia, see 303350. (300266)

MalaCards based summary : Spastic Paraplegia 16, X-Linked, also known as spg16, is related to spastic paraplegia 16, and has symptoms including urgency of micturition, abnormal pyramidal signs and restlessness. An important gene associated with Spastic Paraplegia 16, X-Linked is SPG16 (Spastic Paraplegia 16 (Complicated, X-Linked Recessive)). Related phenotypes are nystagmus and tetraplegia

Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in variation in the chromosome region Xq11.2.

Related Diseases for Spastic Paraplegia 16, X-Linked

Diseases in the Spastic Paraplegia 2, X-Linked family:

Spastic Paraplegia 16, X-Linked Spastic Paraplegia 34, X-Linked

Diseases related to Spastic Paraplegia 16, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 16 11.3

Symptoms & Phenotypes for Spastic Paraplegia 16, X-Linked

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
hyperreflexia
lower limb spasticity
shuffling gait
motor aphasia
mental retardation
more
Genitourinary Bladder:
urinary incontinence
urinary urgency
sphincter disturbances

Head And Neck Face:
facial hypotonia

Abdomen Gastrointestinal:
bowel dysfunction

Head And Neck Eyes:
strabismus
reduced vision

Neurologic Behavioral Psychiatric Manifestations:
restlessness
low frustration tolerance
mood swings

Skeletal Skull:
maxillary hypoplasia

Skeletal Hands:
short, thick distal phalanges


Clinical features from OMIM:

300266

Human phenotypes related to Spastic Paraplegia 16, X-Linked:

59 32 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
2 tetraplegia 59 32 frequent (33%) Frequent (79-30%) HP:0002445
3 intellectual disability, mild 59 32 frequent (33%) Frequent (79-30%) HP:0001256
4 visual loss 59 32 frequent (33%) Frequent (79-30%) HP:0000572
5 motor delay 59 32 frequent (33%) Frequent (79-30%) HP:0001270
6 functional abnormality of the gastrointestinal tract 59 32 frequent (33%) Frequent (79-30%) HP:0012719
7 functional abnormality of the bladder 59 32 frequent (33%) Frequent (79-30%) HP:0000009
8 abnormality of the hallux 59 32 frequent (33%) Frequent (79-30%) HP:0001844
9 motor aphasia 59 32 frequent (33%) Frequent (79-30%) HP:0002427
10 intellectual disability 32 HP:0001249
11 hyperreflexia 32 HP:0001347
12 visual impairment 32 HP:0000505
13 strabismus 32 HP:0000486
14 babinski sign 32 HP:0003487
15 urinary bladder sphincter dysfunction 32 HP:0002839
16 hypoplasia of the maxilla 32 HP:0000327
17 short distal phalanx of finger 32 HP:0009882
18 spastic paraplegia 32 HP:0001258
19 shuffling gait 32 HP:0002362
20 urinary incontinence 32 HP:0000020
21 restlessness 32 HP:0000711
22 lower limb amyotrophy 32 HP:0007210
23 lower limb muscle weakness 32 HP:0007340
24 facial hypotonia 32 HP:0000297
25 low frustration tolerance 32 HP:0000744
26 urinary urgency 32 HP:0000012
27 mood swings 32 HP:0000720

UMLS symptoms related to Spastic Paraplegia 16, X-Linked:


urgency of micturition, abnormal pyramidal signs, restlessness

Drugs & Therapeutics for Spastic Paraplegia 16, X-Linked

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 16, X-Linked

Genetic Tests for Spastic Paraplegia 16, X-Linked

Anatomical Context for Spastic Paraplegia 16, X-Linked

Publications for Spastic Paraplegia 16, X-Linked

Variations for Spastic Paraplegia 16, X-Linked

Expression for Spastic Paraplegia 16, X-Linked

Search GEO for disease gene expression data for Spastic Paraplegia 16, X-Linked.

Pathways for Spastic Paraplegia 16, X-Linked

GO Terms for Spastic Paraplegia 16, X-Linked

Sources for Spastic Paraplegia 16, X-Linked

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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