MCID: SPS062
MIFTS: 20

Spastic Paraplegia 34, X-Linked

Categories: Neuronal diseases, Rare diseases, Genetic diseases, Eye 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 73
Spg34 57 12 59
X-Linked Spastic Paraplegia Type 34 12 59
Hereditary Spastic Paraplegia 34 12
X-Linked Spastic Paraplegia 34 12

Characteristics:

Orphanet epidemiological data:

59
x-linked spastic paraplegia type 34
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood;

OMIM:

57
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:

32
spastic paraplegia 34, x-linked:
Onset and clinical course slow progression
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 300750
Disease Ontology 12 DOID:0110785
ICD10 33 G11.4
Orphanet 59 ORPHA171607
UMLS via Orphanet 74 C2677897
ICD10 via Orphanet 34 G11.4
MedGen 42 C2677897
UMLS 73 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 spasticity. An important gene associated with Spastic Paraplegia 34, X-Linked is SPG34 (Spastic Paraplegia 34 (Autosomal Dominant)). Related phenotypes are babinski sign and brisk reflexes

Description from OMIM: 300750

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:

# Related Disease Score Top Affiliating Genes
1 paraplegia 9.9
2 spasticity 9.9

Symptoms & Phenotypes for Spastic Paraplegia 34, X-Linked

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 babinski sign 59 32 frequent (33%) Frequent (79-30%) HP:0003487
2 brisk reflexes 59 32 frequent (33%) Frequent (79-30%) HP:0001348
3 lower limb spasticity 59 32 frequent (33%) Frequent (79-30%) HP:0002061
4 impaired vibration sensation in the lower limbs 59 32 frequent (33%) Frequent (79-30%) HP:0002166
5 shuffling gait 59 32 frequent (33%) Frequent (79-30%) HP:0002362
6 ankle clonus 59 32 frequent (33%) Frequent (79-30%) HP:0011448
7 lower limb pain 59 32 frequent (33%) Frequent (79-30%) HP:0012514
8 hyperreflexia 59 Frequent (79-30%)
9 clonus 32 HP:0002169
10 spastic paraplegia 32 HP:0001258
11 spastic gait 32 HP:0002064
12 impaired vibratory sensation 32 HP:0002495

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

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 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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