SPG34
MCID: SPS062
MIFTS: 27

Spastic Paraplegia 34, X-Linked (SPG34)

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

Aliases & Classifications for Spastic Paraplegia 34, X-Linked

MalaCards integrated aliases for Spastic Paraplegia 34, X-Linked:

Name: Spastic Paraplegia 34, X-Linked 57 13 70
Spg34 57 12 58
X-Linked Spastic Paraplegia Type 34 12 58
Hereditary Spastic Paraplegia 34 12 15
X-Linked Spastic Paraplegia 34 12

Characteristics:

Orphanet epidemiological data:

58
x-linked spastic paraplegia type 34
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood;

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
slowly progressive
onset between ages 10 and 25 years
patients often become wheelchair-bound 3 to 4 decades after onset

Inheritance:
x-linked recessive


HPO:

31
spastic paraplegia 34, x-linked:
Onset and clinical course slow progression
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110785
OMIM® 57 300750
OMIM Phenotypic Series 57 PS303350
ICD10 32 G11.4
ICD10 via Orphanet 33 G11.4
UMLS via Orphanet 71 C2677897
Orphanet 58 ORPHA171607
MedGen 41 C2677897
UMLS 70 C2677897

Summaries for Spastic Paraplegia 34, X-Linked

Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in variation in the chromosome region Xq24-q25.

MalaCards based summary : Spastic Paraplegia 34, X-Linked, also known as spg34, is related to paraplegia and spastic paraplegia 44, autosomal recessive. An important gene associated with Spastic Paraplegia 34, X-Linked is SPG34 (Spastic Paraplegia 34 (Autosomal Dominant)). Related phenotypes are babinski sign and lower limb spasticity

More information from OMIM: 300750 PS303350

Related Diseases for Spastic Paraplegia 34, 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 34, 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 paraplegia 29.3 ZFYVE26 WASHC5 SPG21 SLC33A1 REEP1
2 spastic paraplegia 44, autosomal recessive 10.2 SPG21 SLC33A1
3 spastic paraplegia 53, autosomal recessive 10.2 WASHC5 SLC33A1
4 hereditary spastic paraplegia 51 10.2 ZFYVE26 SPG21
5 spastic paraplegia 64, autosomal recessive 10.1 ZFYVE26 SPG21
6 charcot-marie-tooth disease, axonal, type 2r 10.1 ZFYVE26 SPG21
7 spastic paraplegia 52, autosomal recessive 10.1 ZFYVE26 SPG21
8 spastic paraplegia 50, autosomal recessive 10.1 ZFYVE26 SPG21
9 spastic paraplegia 49, autosomal recessive 10.1 ZFYVE26 SPG21
10 neuropathy, hereditary sensory, type iic 10.1 SPG21 REEP1
11 spastic paraplegia 55, autosomal recessive 10.1 ZFYVE26 SPG21
12 autosomal dominant cerebellar ataxia type iii 10.1 TTBK2 PLEKHG4
13 spinocerebellar ataxia 25 10.1 TTBK2 PLEKHG4
14 spinocerebellar ataxia 4 10.1 TTBK2 PLEKHG4
15 spinocerebellar ataxia 1 10.1 PLEKHG4 ATXN8OS
16 spastic paraplegia 11, autosomal recessive 10.1 ZFYVE26 SPG21
17 spastic paraplegia 46, autosomal recessive 10.1 ZFYVE26 SPG21
18 spastic paraplegia 73, autosomal dominant 10.1 SPG21 REEP1
19 charcot-marie-tooth disease, axonal, type 2t 10.1 ZFYVE26 SPG21
20 spastic paraplegia 54, autosomal recessive 10.1 SPG21 REEP1
21 spastic paraplegia 32, autosomal recessive 10.1 WASHC5 SPG21 SLC33A1
22 hereditary spastic paraplegia 72 10.0 ZFYVE26 REEP1
23 spastic paraplegia 20, autosomal recessive 10.0 ZFYVE26 SPG21
24 nescav syndrome 10.0 ZFYVE26 REEP1
25 spastic paraplegia 56, autosomal recessive 10.0 ZFYVE26 SPG21
26 spastic paraplegia 26, autosomal recessive 10.0 SPG21 SLC33A1 REEP1
27 spastic paraplegia 13, autosomal dominant 10.0 SPG21 SLC33A1 REEP1
28 spastic paraplegia 27, autosomal recessive 9.9 SPG21 SLC33A1 PLEKHG4 ATXN8OS
29 hereditary spastic paraplegia 30 9.9 WASHC5 SPG21 REEP1
30 spinocerebellar ataxia, x-linked 5 9.9 PLEKHG4 FGF14
31 spastic paraplegia 14, autosomal recessive 9.9 SPG21 SLC33A1 PLEKHG4 ATXN8OS
32 cerebellar ataxia type 9 9.9 PLEKHG4 FGF14
33 spastic paraplegia 61, autosomal recessive 9.9 ZFYVE26 SPG21 REEP1
34 spastic paraplegia 24, autosomal recessive 9.9 TCEA3 SPG21 DMRTB1
35 hereditary spastic paraplegia 23 9.8 ZFYVE26 WASHC5 SPG21 SLC33A1
36 spastic paraplegia 39, autosomal recessive 9.8 ZFYVE26 WASHC5 SPG21 SLC33A1
37 spastic paraplegia 3, autosomal dominant 9.8 WASHC5 REEP1
38 spinocerebellar ataxia 17 9.7 FGF14 ATXN8OS
39 spastic paraplegia 16, x-linked 9.7 WASHC5 SPG21 SLC33A1 PLEKHG4 ATXN8OS
40 spinocerebellar ataxia 13 9.7 TTBK2 FGF14
41 spastic paraplegia 33, autosomal dominant 9.7 ZFYVE26 WASHC5 SPG21 REEP1
42 spastic paraplegia 18, autosomal recessive 9.7 ZFYVE26 WASHC5 SPG21 REEP1
43 spastic paraplegia 48, autosomal recessive 9.7 ZFYVE26 WASHC5 SPG21 REEP1
44 spastic paraplegia 12, autosomal dominant 9.7 ZFYVE26 WASHC5 SPG21 REEP1
45 spastic paraplegia 31, autosomal dominant 9.7 ZFYVE26 WASHC5 SPG21 REEP1
46 spastic paraplegia 15, autosomal recessive 9.7 ZFYVE26 WASHC5 SPG21 REEP1
47 spastic paraplegia 47, autosomal recessive 9.7 ZFYVE26 WASHC5 SPG21 REEP1
48 spastic paraplegia 35, autosomal recessive 9.7 ZFYVE26 WASHC5 SPG21 REEP1
49 spastic paraplegia 10, autosomal dominant 9.7 ZFYVE26 WASHC5 SPG21 REEP1
50 spastic paraplegia 42, autosomal dominant 9.7 ZFYVE26 WASHC5 SLC33A1 REEP1

Graphical network of the top 20 diseases related to Spastic Paraplegia 34, X-Linked:



Diseases related to Spastic Paraplegia 34, X-Linked

Symptoms & Phenotypes for Spastic Paraplegia 34, X-Linked

Human phenotypes related to Spastic Paraplegia 34, X-Linked:

58 31 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 babinski sign 58 31 frequent (33%) Frequent (79-30%) HP:0003487
2 lower limb spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0002061
3 ankle clonus 58 31 frequent (33%) Frequent (79-30%) HP:0011448
4 brisk reflexes 58 31 frequent (33%) Frequent (79-30%) HP:0001348
5 lower limb pain 58 31 frequent (33%) Frequent (79-30%) HP:0012514
6 shuffling gait 58 31 frequent (33%) Frequent (79-30%) HP:0002362
7 impaired vibration sensation in the lower limbs 58 31 frequent (33%) Frequent (79-30%) HP:0002166
8 hyperreflexia 58 Frequent (79-30%)
9 clonus 31 HP:0002169
10 spastic paraplegia 31 HP:0001258
11 impaired vibratory sensation 31 HP:0002495
12 spastic gait 31 HP:0002064

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
hyperreflexia
spastic gait
extensor plantar responses
spastic paraplegia, pure
ankle and patellar clonus
more
Neurologic Peripheral Nervous System:
decreased vibratory sense after sixth decade

Clinical features from OMIM®:

300750 (Updated 05-Apr-2021)

Drugs & Therapeutics for Spastic Paraplegia 34, X-Linked

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 34, X-Linked

Genetic Tests for Spastic Paraplegia 34, X-Linked

Anatomical Context for Spastic Paraplegia 34, X-Linked

Publications for Spastic Paraplegia 34, X-Linked

Articles related to Spastic Paraplegia 34, X-Linked:

# Title Authors PMID Year
1
Reevaluation of a large family defines a new locus for X-linked recessive pure spastic paraplegia (SPG34) on chromosome Xq25. 57 61
18463901 2008
2
Further evidence for a fourth gene causing X-linked pure spastic paraplegia. 57
12210342 2002
3
Advances in hereditary spastic paraplegia. 57
9266155 1997
4
Hereditary spastic paraplegia: advances in genetic research. Hereditary Spastic Paraplegia Working group. 57
8649538 1996
5
X-linked recessive type of pure spastic paraplegia in a large pedigree: absence of detectable linkage with Xg. 57
1084423 1976

Variations for Spastic Paraplegia 34, X-Linked

Expression for Spastic Paraplegia 34, X-Linked

Search GEO for disease gene expression data for Spastic Paraplegia 34, X-Linked.

Pathways for Spastic Paraplegia 34, X-Linked

GO Terms for Spastic Paraplegia 34, X-Linked

Sources for Spastic Paraplegia 34, 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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