MCID: SPS102
MIFTS: 33

Spastic Paraplegia 25, Autosomal Recessive

Categories: Neuronal diseases, Rare diseases, Genetic diseases, Eye diseases, Gastrointestinal diseases, Bone diseases, Mental diseases, Metabolic diseases

Aliases & Classifications for Spastic Paraplegia 25, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 25, Autosomal Recessive:

Name: Spastic Paraplegia 25, Autosomal Recessive 57 13 73
Spg25 57 12 59
Autosomal Recessive Spastic Paraplegia Type 25 12 59
Hereditary Spastic Paraplegia 25 12 15
Autosomal Recessive Spastic Paraplegia-Disc Herniation Syndrome 59
Disc Herniation with Spastic Paraplegia, Autosomal Recessive 57
Autosomal Recessive Spastic Paraplegia 25 12

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive spastic paraplegia type 25
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
adult onset of neurologic symptoms (range 30 to 46 years)
one consanguineous italian family has been reported (last curated august 2015)


HPO:

32
spastic paraplegia 25, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 608220
Disease Ontology 12 DOID:0110776
ICD10 33 G11.4
Orphanet 59 ORPHA101005
MESH via Orphanet 45 C536861
ICD10 via Orphanet 34 G11.4
UMLS via Orphanet 74 C2936860
MedGen 42 C2936860
UMLS 73 C2936860

Summaries for Spastic Paraplegia 25, Autosomal Recessive

Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in variation in the chromosome region 6q23-q24.1.

MalaCards based summary : Spastic Paraplegia 25, Autosomal Recessive, also known as spg25, is related to spastic paraplegia 25 and clivus chordoma, and has symptoms including back pain and neck pain. An important gene associated with Spastic Paraplegia 25, Autosomal Recessive is SPG25 (Spastic Paraplegia 25 (Autosomal Recessive, With Disc Herniation)), and among its related pathways/superpathways are Development FGFR signaling pathway and RhoGDI Pathway. Affiliated tissues include spinal cord, and related phenotypes are paraparesis and herniation of intervertebral nuclei

Description from OMIM: 608220

Related Diseases for Spastic Paraplegia 25, Autosomal Recessive

Diseases in the Spastic Paraplegia 3a family:

Spastic Paraplegia 3, Autosomal Dominant Spastic Paraplegia 4, Autosomal Dominant
Spastic Paraplegia 17, Autosomal Dominant Spastic Paraplegia 15, Autosomal Recessive
Spastic Paraplegia 23 Spastic Paraplegia 5a, Autosomal Recessive
Spastic Paraplegia 20, Autosomal Recessive Spastic Paraplegia 6, Autosomal Dominant
Spastic Paraplegia 9a, Autosomal Dominant Spastic Paraplegia 8, Autosomal Dominant
Spastic Paraplegia 10, Autosomal Dominant Spastic Paraplegia 11, Autosomal Recessive
Spastic Paraplegia 12, Autosomal Dominant Spastic Paraplegia 14, Autosomal Recessive
Spastic Paraplegia 13, Autosomal Dominant Spastic Paraplegia 19, Autosomal Dominant
Spastic Paraplegia 7, Autosomal Recessive Spastic Paraplegia 24, Autosomal Recessive
Spastic Paraplegia 25, Autosomal Recessive Spastic Paraplegia 27, Autosomal Recessive
Spastic Paraplegia 26, Autosomal Recessive Spastic Paraplegia 28, Autosomal Recessive
Spastic Paraplegia 29, Autosomal Dominant Spastic Paraplegia 33, Autosomal Dominant
Spastic Paraplegia 31, Autosomal Dominant Spastic Paraplegia 30, Autosomal Recessive
Spastic Paraplegia 18, Autosomal Recessive Spastic Paraplegia 32, Autosomal Recessive
Spastic Paraplegia 37, Autosomal Dominant Spastic Paraplegia 39, Autosomal Recessive
Spastic Paraplegia 35, Autosomal Recessive Spastic Paraplegia 38, Autosomal Dominant
Spastic Paraplegia 42, Autosomal Dominant Spastic Paraplegia 50, Autosomal Recessive
Spastic Paraplegia 36, Autosomal Dominant Spastic Paraplegia 45, Autosomal Recessive
Spastic Paraplegia 44, Autosomal Recessive Spastic Paraplegia 41, Autosomal Dominant
Spastic Paraplegia 48, Autosomal Recessive Spastic Paraplegia 51, Autosomal Recessive
Spastic Paraplegia 47, Autosomal Recessive Spastic Paraplegia 52, Autosomal Recessive
Spastic Paraplegia 46, Autosomal Recessive Spastic Paraplegia 53, Autosomal Recessive
Spastic Paraplegia 56, Autosomal Recessive Spastic Paraplegia 49, Autosomal Recessive
Spastic Paraplegia 54, Autosomal Recessive Spastic Paraplegia 55, Autosomal Recessive
Spastic Paraplegia 43, Autosomal Recessive Spastic Paraplegia 79, Autosomal Recessive
Spastic Paraplegia 72, Autosomal Recessive Spastic Paraplegia 57, Autosomal Recessive
Spastic Paraplegia 62, Autosomal Recessive Spastic Paraplegia 64, Autosomal Recessive
Spastic Paraplegia 61, Autosomal Recessive Spastic Paraplegia 63, Autosomal Recessive
Spastic Paraplegia 73, Autosomal Dominant Spastic Paraplegia 74, Autosomal Recessive
Spastic Paraplegia 9b, Autosomal Recessive Spastic Paraplegia 75, Autosomal Recessive
Spastic Paraplegia 76, Autosomal Recessive Spastic Paraplegia 77, Autosomal Recessive
Spastic Paraplegia 78, Autosomal Recessive Hereditary Spastic Paraplegia
Hereditary Spastic Paraplegia 51 Hereditary Spastic Paraplegia 72
Spastic Paraplegia 4 Spastic Paraplegia 8
Spastic Paraplegia 11 Spastic Paraplegia 1
Spastic Paraplegia 10 Spastic Paraplegia 12
Spastic Paraplegia 13 Spastic Paraplegia 14
Spastic Paraplegia 15 Spastic Paraplegia 16
Spastic Paraplegia 17 Spastic Paraplegia 18
Spastic Paraplegia 19 Spastic Paraplegia 24
Spastic Paraplegia 25 Spastic Paraplegia 26
Spastic Paraplegia 29 Spastic Paraplegia 3
Spastic Paraplegia 31 Spastic Paraplegia 32
Spastic Paraplegia 39 Spastic Paraplegia 51
Spastic Paraplegia 5a Spastic Paraplegia 5b
Spastic Paraplegia 6 Spastic Paraplegia 9
Autosomal Recessive Spastic Paraplegia Type 60 Autosomal Recessive Spastic Paraplegia Type 59
Autosomal Recessive Spastic Paraplegia Type 68 Autosomal Recessive Spastic Paraplegia Type 69
Autosomal Recessive Spastic Paraplegia Type 70 Autosomal Recessive Spastic Paraplegia Type 71
Autosomal Recessive Spastic Paraplegia Type 66 Autosomal Recessive Spastic Paraplegia Type 67

Diseases related to Spastic Paraplegia 25, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 25 11.3
2 clivus chordoma 9.5 FGF13 FGF2
3 diffuse glomerulonephritis 9.4 FGF13 FGF2
4 disuse amblyopia 9.3 FGF13 FGF2
5 crouzon syndrome 9.2 FGF13 FGF2
6 muenke syndrome 9.0 FGF13 FGF2

Graphical network of the top 20 diseases related to Spastic Paraplegia 25, Autosomal Recessive:



Diseases related to Spastic Paraplegia 25, Autosomal Recessive

Symptoms & Phenotypes for Spastic Paraplegia 25, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

57
Skeletal Spine:
back pain
spinal disc herniation, various regions of the spine
spondylosis

Head And Neck Neck:
neck pain

Neurologic Central Nervous System:
spastic paraplegia
pain in the upper and lower limbs
pyramidal signs secondary to spinal cord compression

Neurologic Peripheral Nervous System:
sensory or motor neuropathy, mild (in some patients)


Clinical features from OMIM:

608220

Human phenotypes related to Spastic Paraplegia 25, Autosomal Recessive:

59 32 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 paraparesis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002385
2 herniation of intervertebral nuclei 59 32 hallmark (90%) Very frequent (99-80%) HP:0008441
3 sensory neuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0000763
4 spastic paraplegia 59 32 frequent (33%) Frequent (79-30%) HP:0001258
5 lower limb pain 59 32 frequent (33%) Frequent (79-30%) HP:0012514
6 neck pain 59 32 frequent (33%) Frequent (79-30%) HP:0030833
7 congenital cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000519
8 congenital glaucoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0001087
9 abnormality of peripheral nerve conduction 59 32 occasional (7.5%) Occasional (29-5%) HP:0003134
10 sensorimotor neuropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0007141
11 cervical spondylosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0008480
12 upper limb pain 59 32 occasional (7.5%) Occasional (29-5%) HP:0012513
13 abnormality of the lumbar spine 59 32 occasional (7.5%) Occasional (29-5%) HP:0100712
14 back pain 32 HP:0003418

UMLS symptoms related to Spastic Paraplegia 25, Autosomal Recessive:


back pain, neck pain

Drugs & Therapeutics for Spastic Paraplegia 25, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 25, Autosomal Recessive

Genetic Tests for Spastic Paraplegia 25, Autosomal Recessive

Anatomical Context for Spastic Paraplegia 25, Autosomal Recessive

MalaCards organs/tissues related to Spastic Paraplegia 25, Autosomal Recessive:

41
Spinal Cord

Publications for Spastic Paraplegia 25, Autosomal Recessive

Variations for Spastic Paraplegia 25, Autosomal Recessive

Expression for Spastic Paraplegia 25, Autosomal Recessive

Search GEO for disease gene expression data for Spastic Paraplegia 25, Autosomal Recessive.

Pathways for Spastic Paraplegia 25, Autosomal Recessive

Pathways related to Spastic Paraplegia 25, Autosomal Recessive according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.57 FGF13 FGF2
2
Show member pathways
11.34 FGF13 FGF2
3 10.75 FGF13 FGF2

GO Terms for Spastic Paraplegia 25, Autosomal Recessive

Biological processes related to Spastic Paraplegia 25, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 8.96 FGF13 FGF2
2 extracellular matrix organization GO:0030198 8.62 FGF2 IBSP

Molecular functions related to Spastic Paraplegia 25, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 8.96 FGF13 FGF2
2 integrin binding GO:0005178 8.62 FGF2 IBSP

Sources for Spastic Paraplegia 25, Autosomal Recessive

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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