SPG16
MCID: SPS198
MIFTS: 30

Spastic Paraplegia 16, X-Linked (SPG16)

Categories: Eye diseases, Genetic diseases, Nephrological 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 56 71
Spg16 56 12 58
Spastic Paraplegia 16, X-Linked, Complicated 56 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:

56
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 56 300266
OMIM Phenotypic Series 56 PS303350
ICD10 32 G11.4
MESH via Orphanet 44 C536643
ICD10 via Orphanet 33 G11.4
UMLS via Orphanet 72 C1846046
Orphanet 58 ORPHA100997
MedGen 41 C1846046
UMLS 71 C1846046

Summaries for Spastic Paraplegia 16, X-Linked

OMIM : 56 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 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)). Affiliated tissues include eye, and 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 63)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 16 11.6
2 neuropathy, hereditary sensory, type iic 10.1 SPG21 SPG11
3 spastic paraplegia 64, autosomal recessive 10.1 SPG21 SPG11
4 spastic paraplegia 54, autosomal recessive 10.0 SPG21 SPG11
5 spastic paraplegia 63, autosomal recessive 10.0 SPG21 SPG11
6 spastic paraplegia 56, autosomal recessive 10.0 SPG21 SPG11
7 mast syndrome 10.0 SPG21 SPG11
8 spastic paraplegia 41, autosomal dominant 9.9 SPG21 SPAST
9 spastic paraplegia 61, autosomal recessive 9.9 SPG21 SPAST
10 hereditary spastic paraplegia 51 9.8 ZFYVE26 SPG11
11 spastic paraplegia 77, autosomal recessive 9.8 ZFYVE26 SPG11
12 spinocerebellar ataxia, autosomal recessive 20 9.8 ZFYVE26 SPG11
13 spastic paraplegia 13, autosomal dominant 9.8 SPAST SLC33A1
14 spastic paraparesis 9.7 SPG11 SPAST ALDH18A1
15 charcot-marie-tooth disease, axonal, type 2r 9.7 ZFYVE26 SPG21
16 spinocerebellar ataxia 2 9.6 SPG11 ATXN8OS
17 charcot-marie-tooth disease, axonal, type 2t 9.6 ZFYVE26 SPG21
18 spastic paraplegia 52, autosomal recessive 9.6 ZFYVE26 SPG21 SPG11
19 spastic paraplegia 49, autosomal recessive 9.6 ZFYVE26 SPG21 SPG11
20 spastic paraplegia 11, autosomal recessive 9.5 ZFYVE26 SPG21 SPG11
21 spasticity 9.5 WASHC5 SPAST
22 spastic paraplegia 55, autosomal recessive 9.5 ZFYVE26 SPG21 SPG11
23 spastic paraplegia 46, autosomal recessive 9.5 ZFYVE26 SPG21 SPG11
24 spastic paraplegia 50, autosomal recessive 9.5 ZFYVE26 WASHC5 SPG11
25 aceruloplasminemia 9.5 SPG11 SLC33A1 PLEKHG4 ATXN8OS
26 spastic paraplegia 5a, autosomal recessive 9.4 ZFYVE26 SPG11 SPAST
27 amyotrophic lateral sclerosis type 5 9.4 ZFYVE26 SPG11 SPAST
28 spastic paraplegia 33, autosomal dominant 9.4 WASHC5 SPG21 SPAST SLC33A1
29 spastic paraplegia 30, autosomal recessive 9.3 WASHC5 SPG21 SPG11 SPAST
30 spastic paraplegia 32, autosomal recessive 9.3 ZFYVE26 SPG21 SPG11 SLC33A1
31 spastic paraplegia 27, autosomal recessive 9.3 SPG21 SLC33A1 PLEKHG4 ATXN8OS ALDH18A1
32 spastic paraplegia 44, autosomal recessive 9.2 ZFYVE26 WASHC5 SPG21 SLC33A1
33 spastic paraplegia 18, autosomal recessive 9.2 ZFYVE26 WASHC5 SPG21 SPG11
34 spastic paraplegia 47, autosomal recessive 9.2 ZFYVE26 WASHC5 SPG21 SPG11
35 spastic paraplegia 35, autosomal recessive 9.2 ZFYVE26 WASHC5 SPG21 SPG11
36 spastic paraplegia 43, autosomal recessive 9.1 ZFYVE26 SPG11 SPAST SLC33A1
37 hereditary spastic paraplegia 72 9.1 ZFYVE26 SPG21 SPG11 SPAST
38 spastic paraplegia 20, autosomal recessive 9.1 ZFYVE26 SPG21 SPG11 SPAST
39 charcot-marie-tooth disease, axonal, type 2e 9.0 ZFYVE26 SPG21 SPG11 SPAST
40 spastic paraplegia 3, autosomal dominant 9.0 ZFYVE26 WASHC5 SPG11 SPAST
41 hereditary spastic paraplegia 23 9.0 ZFYVE26 WASHC5 SPG21 SPG11 SLC33A1
42 spastic paraplegia 42, autosomal dominant 8.8 ZFYVE26 WASHC5 SPG11 SPAST SLC33A1
43 spastic paraplegia 48, autosomal recessive 8.7 ZFYVE26 WASHC5 SPG21 SPG11 SPAST
44 spastic paraplegia 31, autosomal dominant 8.7 ZFYVE26 WASHC5 SPG21 SPG11 SPAST
45 spastic paraplegia 15, autosomal recessive 8.7 ZFYVE26 WASHC5 SPG21 SPG11 SPAST
46 spastic paraplegia 10, autosomal dominant 8.7 ZFYVE26 WASHC5 SPG21 SPG11 SPAST
47 spastic paraplegia 2, x-linked 8.7 ZFYVE26 WASHC5 SPG21 SPG11 SPAST
48 spastic paraplegia 17, autosomal dominant 8.7 ZFYVE26 WASHC5 SPG21 SPG11 SPAST
49 masa syndrome 8.7 ZFYVE26 WASHC5 SPG21 SPG11 SPAST
50 spastic paraplegia 37, autosomal dominant 8.5 ZFYVE26 WASHC5 SPG21 SLC33A1 PLEKHG4 ATXN8OS

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 visual loss 58 31 frequent (33%) Frequent (79-30%) HP:0000572
6 functional abnormality of the gastrointestinal tract 58 31 frequent (33%) Frequent (79-30%) HP:0012719
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 babinski sign 31 HP:0003487
15 urinary bladder sphincter dysfunction 31 HP:0002839
16 hypoplasia of the maxilla 31 HP:0000327
17 short distal phalanx of finger 31 HP:0009882
18 spastic paraplegia 31 HP:0001258
19 lower limb muscle weakness 31 HP:0007340
20 shuffling gait 31 HP:0002362
21 urinary urgency 31 HP:0000012
22 urinary incontinence 31 HP:0000020
23 restlessness 31 HP:0000711
24 lower limb amyotrophy 31 HP:0007210
25 facial hypotonia 31 HP:0000297
26 low frustration tolerance 31 HP:0000744
27 mood swings 31 HP:0000720

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
hyperreflexia
lower limb spasticity
shuffling gait
motor aphasia
mental retardation
more
Genitourinary Bladder:
urinary urgency
urinary incontinence
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

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

MalaCards organs/tissues related to Spastic Paraplegia 16, X-Linked:

40
Eye

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. 56
10982474 2000
2
Hereditary Spastic Paraplegia Overview 6
20301682 2000
3
Evidence of a third locus in X-linked recessive spastic paraplegia. 56
9254866 1997
4
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

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

# Name GO ID Score Top Affiliating Genes
1 mitotic cytokinesis GO:0000281 8.62 ZFYVE26 SPAST

Sources for Spastic Paraplegia 16, X-Linked

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....