SPG16
MCID: SPS198
MIFTS: 30

Spastic Paraplegia 16, X-Linked (SPG16)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare 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 70
Spg16 57 12 58
Spastic Paraplegia 16, X-Linked, Complicated 57 13
X-Linked Spastic Paraplegia Type 16 12 58
Hereditary Spastic Paraplegia 16 12 15
X-Linked Spastic Paraplegia 16 12

Characteristics:

Orphanet epidemiological data:

58
x-linked spastic paraplegia type 16
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
onset in early childhood

Inheritance:
x-linked recessive


HPO:

31
spastic paraplegia 16, x-linked:
Onset and clinical course juvenile onset
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110769
OMIM® 57 300266
OMIM Phenotypic Series 57 PS303350
ICD10 32 G11.4
MESH via Orphanet 45 C536643
ICD10 via Orphanet 33 G11.4
UMLS via Orphanet 71 C1846046
Orphanet 58 ORPHA100997
MedGen 41 C1846046
UMLS 70 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) (Updated 05-Apr-2021)

MalaCards based summary : Spastic Paraplegia 16, X-Linked, also known as spg16, is related to spastic paraplegia 16 and neuropathy, hereditary sensory, type iic, and has symptoms including restlessness, urgency of micturition and abnormal pyramidal signs. 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:

(show top 50) (show all 68)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 16 11.4
2 neuropathy, hereditary sensory, type iic 10.1 SPG21 SPG11
3 spastic paraplegia 64, autosomal recessive 10.1 SPG21 SPG11
4 spastic paraplegia 52, autosomal recessive 10.1 SPG21 SPG11
5 complex hereditary spastic paraplegia 10.1 SPG7 SPG11
6 spastic paraplegia 45, autosomal recessive 10.1 SPG21 SPG11
7 mast syndrome 10.0 SPG21 SPG11
8 spastic paraplegia 28, autosomal recessive 10.0 SPG7 SPG11
9 spastic paraplegia 7, autosomal recessive 10.0 SPG7 SPG11
10 spastic paraplegia 41, autosomal dominant 10.0 SPG21 SPAST
11 spastic paraplegia 53, autosomal recessive 10.0 WASHC5 SLC33A1
12 spastic paraplegia 44, autosomal recessive 9.9 SPG21 SPG11 SLC33A1
13 hereditary spastic paraplegia 51 9.9 SPG7 SPG21 SPG11
14 spastic paraplegia 50, autosomal recessive 9.9 SPG7 SPG21 SPG11
15 spastic paraplegia 63, autosomal recessive 9.9 SPG7 SPG21 SPG11
16 spastic paraplegia 49, autosomal recessive 9.9 SPG7 SPG21 SPG11
17 spastic paraplegia 55, autosomal recessive 9.9 SPG7 SPG21 SPG11
18 spastic paraplegia 54, autosomal recessive 9.9 SPG7 SPG21 SPG11
19 motor peripheral neuropathy 9.9 SPG7 SPG11
20 spastic paraplegia 61, autosomal recessive 9.8 SPG21 SPG11 SPAST
21 spinocerebellar ataxia 2 9.8 SPG11 ATXN8OS
22 spastic paraplegia 43, autosomal recessive 9.8 SPG11 SPAST SLC33A1
23 hereditary spastic paraplegia 72 9.8 SPG7 SPG11 SPAST
24 spastic paraplegia 20, autosomal recessive 9.8 SPG7 SPG21 SPAST
25 hereditary spastic paraplegia 23 9.7 WASHC5 SPG21 SPG11 SLC33A1
26 spasticity 9.7 WASHC5 SPG7 SPAST
27 spastic paraplegia 18, autosomal recessive 9.7 WASHC5 SPG7 SPG21 SPG11
28 spastic paraplegia 35, autosomal recessive 9.7 WASHC5 SPG7 SPG21 SPG11
29 spastic paraplegia 26, autosomal recessive 9.6 SPG21 SPG11 SPAST SLC33A1
30 spastic paraplegia 5a, autosomal recessive 9.6 SPG7 SPG11 SPAST ALDH18A1
31 spastic paraplegia 11, autosomal recessive 9.6 SPG7 SPG21 SPG11 SPAST
32 spastic paraparesis 9.6 SPG7 SPG11 SPAST ALDH18A1
33 spastic paraplegia 46, autosomal recessive 9.6 SPG7 SPG21 SPG11 SPAST
34 spastic paraplegia 56, autosomal recessive 9.6 SPG7 SPG21 SPG11 SPAST
35 spastic paraplegia 12, autosomal dominant 9.6 WASHC5 SPG21 SPG11 SPAST
36 charcot-marie-tooth disease, axonal, type 2e 9.6 SPG7 SPG21 SPG11 SPAST
37 cerebellar disease 9.5 SPG7 PLEKHG4 ATXN8OS
38 dentatorubral-pallidoluysian atrophy 9.5 SPG7 PLEKHG4 ATXN8OS
39 spastic paraplegia 3, autosomal dominant 9.5 WASHC5 SPG7 SPG11 SPAST
40 hereditary ataxia 9.5 SPG7 PLEKHG4 ATXN8OS
41 spinocerebellar ataxia 1 9.5 PLEKHG4 ATXN8OS
42 spastic paraplegia 32, autosomal recessive 9.5 WASHC5 SPG7 SPG21 SPG11 SLC33A1
43 spastic paraplegia 37, autosomal dominant 9.5 SPG21 SLC33A1 PLEKHG4 ATXN8OS
44 spastic paraplegia 33, autosomal dominant 9.4 WASHC5 SPG21 SPG11 SPAST ALDH18A1
45 autosomal dominant cerebellar ataxia 9.4 SPG7 PLEKHG4 ATXN8OS
46 spastic paraplegia 13, autosomal dominant 9.4 SPG7 SPG21 SPG11 SPAST SLC33A1
47 hereditary spastic paraplegia 30 9.4 WASHC5 SPG7 SPG21 SPG11 SPAST
48 spastic paraplegia 48, autosomal recessive 9.3 WASHC5 SPG7 SPG21 SPG11 SPAST
49 spastic paraplegia 31, autosomal dominant 9.3 WASHC5 SPG7 SPG21 SPG11 SPAST
50 spastic paraplegia 15, autosomal recessive 9.3 WASHC5 SPG7 SPG21 SPG11 SPAST

Graphical network of the top 20 diseases related to Spastic Paraplegia 16, X-Linked:



Diseases related to Spastic Paraplegia 16, X-Linked

Symptoms & Phenotypes for Spastic Paraplegia 16, X-Linked

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

58 31 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
2 tetraplegia 58 31 frequent (33%) Frequent (79-30%) HP:0002445
3 intellectual disability, mild 58 31 frequent (33%) Frequent (79-30%) HP:0001256
4 motor delay 58 31 frequent (33%) Frequent (79-30%) HP:0001270
5 functional abnormality of the gastrointestinal tract 58 31 frequent (33%) Frequent (79-30%) HP:0012719
6 visual loss 58 31 frequent (33%) Frequent (79-30%) HP:0000572
7 functional abnormality of the bladder 58 31 frequent (33%) Frequent (79-30%) HP:0000009
8 motor aphasia 58 31 frequent (33%) Frequent (79-30%) HP:0002427
9 abnormality of the hallux 58 31 frequent (33%) Frequent (79-30%) HP:0001844
10 intellectual disability 31 HP:0001249
11 hyperreflexia 31 HP:0001347
12 visual impairment 31 HP:0000505
13 strabismus 31 HP:0000486
14 hypoplasia of the maxilla 31 HP:0000327
15 short distal phalanx of finger 31 HP:0009882
16 spastic paraplegia 31 HP:0001258
17 babinski sign 31 HP:0003487
18 restlessness 31 HP:0000711
19 low frustration tolerance 31 HP:0000744
20 urinary incontinence 31 HP:0000020
21 urinary urgency 31 HP:0000012
22 urinary bladder sphincter dysfunction 31 HP:0002839
23 facial hypotonia 31 HP:0000297
24 lower limb muscle weakness 31 HP:0007340
25 lower limb amyotrophy 31 HP:0007210
26 shuffling gait 31 HP:0002362
27 mood swings 31 HP:0000720

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
hyperreflexia
lower limb spasticity
shuffling gait
motor aphasia
mental retardation
more
Neurologic Behavioral Psychiatric Manifestations:
restlessness
low frustration tolerance
mood swings

Head And Neck Face:
facial hypotonia

Abdomen Gastrointestinal:
bowel dysfunction

Head And Neck Eyes:
strabismus
reduced vision

Genitourinary Bladder:
urinary incontinence
urinary urgency
sphincter disturbances

Skeletal Skull:
maxillary hypoplasia

Skeletal Hands:
short, thick distal phalanges

Clinical features from OMIM®:

300266 (Updated 05-Apr-2021)

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


restlessness; urgency of micturition; abnormal pyramidal signs

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

Articles related to Spastic Paraplegia 16, X-Linked:

# Title Authors PMID Year
1
Segregation of a pure form of spastic paraplegia and NOR insertion into Xq11.2. 57
10982474 2000
2
Evidence of a third locus in X-linked recessive spastic paraplegia. 57
9254866 1997
3
Streptomyces maoxianensis sp. nov., a novel actinomycete isolated from soil in Maoxian, China. 61
25663056 2015

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

Cellular components related to Spastic Paraplegia 16, X-Linked according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axon cytoplasm GO:1904115 8.62 SPG7 SPAST

Biological processes related to Spastic Paraplegia 16, X-Linked according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lysosome organization GO:0007040 8.96 WASHC5 SPG11
2 anterograde axonal transport GO:0008089 8.62 SPG7 SPAST

Sources for Spastic Paraplegia 16, X-Linked

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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