SPG25
MCID: SPS102
MIFTS: 30

Spastic Paraplegia 25, Autosomal Recessive (SPG25)

Categories: Bone diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases, Skin 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 70
Spg25 57 12 58
Autosomal Recessive Spastic Paraplegia Type 25 12 58
Hereditary Spastic Paraplegia 25 12 15
Autosomal Recessive Spastic Paraplegia-Disc Herniation Syndrome 58
Disc Herniation with Spastic Paraplegia, Autosomal Recessive 57
Autosomal Recessive Spastic Paraplegia 25 12

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive spastic paraplegia type 25
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
spastic paraplegia 25, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110776
OMIM® 57 608220
OMIM Phenotypic Series 57 PS303350
ICD10 32 G11.4
MESH via Orphanet 45 C536861
ICD10 via Orphanet 33 G11.4
UMLS via Orphanet 71 C2936860
Orphanet 58 ORPHA101005
MedGen 41 C2936860
UMLS 70 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 spastic paraplegia 44, autosomal recessive, 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)). Affiliated tissues include spinal cord and bone, and related phenotypes are paraparesis and herniation of intervertebral nuclei

More information from OMIM: 608220 PS303350

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, Autosomal Recessive 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 Dominant
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 Spastic Paraplegia 80, Autosomal Dominant
Spastic Paraplegia 81, Autosomal Recessive Spastic Paraplegia 82, Autosomal Recessive
Spastic Paraplegia 83, Autosomal Recessive Hereditary Spastic Paraplegia 23
Hereditary Spastic Paraplegia 30 Hereditary Spastic Paraplegia 51
Hereditary Spastic Paraplegia 72 Hereditary Spastic Paraplegia
Spastic Paraplegia 4 Spastic Paraplegia 8
Spastic Paraplegia 11 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 32
Spastic Paraplegia 39 Spastic Paraplegia 47
Spastic Paraplegia 5a Spastic Paraplegia 5b
Spastic Paraplegia 6 Spastic Paraplegia 9
Spastic Paraplegia Type 49 Autosomal Recessive Spastic Paraplegia Type 60
Autosomal Recessive Spastic Paraplegia Type 59 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
Autosomal Dominant Spastic Paraplegia Type 9b

Diseases related to Spastic Paraplegia 25, Autosomal Recessive 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 25 11.4
2 spastic paraplegia 44, autosomal recessive 10.2 SPG21 SLC33A1
3 spastic paraplegia 53, autosomal recessive 10.1 WASHC5 SLC33A1
4 neuropathy, hereditary sensory, type iic 10.1 SPG21 REEP1
5 hereditary spastic paraplegia 51 10.1 ZFYVE26 SPG21
6 spastic paraplegia 64, autosomal recessive 10.1 ZFYVE26 SPG21
7 charcot-marie-tooth disease, axonal, type 2r 10.1 ZFYVE26 SPG21
8 spastic paraplegia 52, autosomal recessive 10.1 ZFYVE26 SPG21
9 spastic paraplegia 50, autosomal recessive 10.1 ZFYVE26 SPG21
10 spastic paraplegia 49, autosomal recessive 10.1 ZFYVE26 SPG21
11 spastic paraplegia 73, autosomal dominant 10.1 SPG21 REEP1
12 spastic paraplegia 55, autosomal recessive 10.1 ZFYVE26 SPG21
13 spastic paraplegia 54, autosomal recessive 10.0 SPG21 REEP1
14 spastic paraplegia 11, autosomal recessive 10.0 ZFYVE26 SPG21
15 spinocerebellar ataxia 1 10.0 PLEKHG4 ATXN8OS
16 spastic paraplegia 46, autosomal recessive 10.0 ZFYVE26 SPG21
17 autosomal dominant cerebellar ataxia type iii 10.0 TTBK2 PLEKHG4
18 charcot-marie-tooth disease, axonal, type 2t 10.0 ZFYVE26 SPG21
19 spinocerebellar ataxia 25 10.0 TTBK2 PLEKHG4
20 spinocerebellar ataxia 4 10.0 TTBK2 PLEKHG4
21 hereditary spastic paraplegia 72 10.0 ZFYVE26 REEP1
22 spastic paraplegia 32, autosomal recessive 10.0 WASHC5 SPG21 SLC33A1
23 nescav syndrome 10.0 ZFYVE26 REEP1
24 spastic paraplegia 20, autosomal recessive 10.0 ZFYVE26 SPG21
25 spastic paraplegia 26, autosomal recessive 9.9 SPG21 SLC33A1 REEP1
26 spastic paraplegia 56, autosomal recessive 9.9 ZFYVE26 SPG21
27 spastic paraplegia 13, autosomal dominant 9.9 SPG21 SLC33A1 REEP1
28 spinocerebellar ataxia, x-linked 5 9.9 PLEKHG4 FGF14
29 cerebellar ataxia type 9 9.9 PLEKHG4 FGF14
30 hereditary spastic paraplegia 30 9.9 WASHC5 SPG21 REEP1
31 spastic paraplegia 61, autosomal recessive 9.9 ZFYVE26 SPG21 REEP1
32 spastic paraplegia 27, autosomal recessive 9.8 SPG21 SLC33A1 PLEKHG4 ATXN8OS
33 spastic paraplegia 14, autosomal recessive 9.8 SPG21 SLC33A1 PLEKHG4 ATXN8OS
34 spastic paraplegia 3, autosomal dominant 9.8 WASHC5 REEP1
35 hereditary spastic paraplegia 23 9.7 ZFYVE26 WASHC5 SPG21 SLC33A1
36 spastic paraplegia 39, autosomal recessive 9.7 ZFYVE26 WASHC5 SPG21 SLC33A1
37 spinocerebellar ataxia 17 9.7 FGF14 ATXN8OS
38 spinocerebellar ataxia 13 9.7 TTBK2 FGF14
39 motor peripheral neuropathy 9.6 ZFYVE26 REEP1
40 spastic paraplegia 33, autosomal dominant 9.6 ZFYVE26 WASHC5 SPG21 REEP1
41 spastic paraplegia 18, autosomal recessive 9.6 ZFYVE26 WASHC5 SPG21 REEP1
42 spastic paraplegia 48, autosomal recessive 9.6 ZFYVE26 WASHC5 SPG21 REEP1
43 spastic paraplegia 12, autosomal dominant 9.6 ZFYVE26 WASHC5 SPG21 REEP1
44 spastic paraplegia 31, autosomal dominant 9.6 ZFYVE26 WASHC5 SPG21 REEP1
45 spastic paraplegia 15, autosomal recessive 9.6 ZFYVE26 WASHC5 SPG21 REEP1
46 spastic paraplegia 47, autosomal recessive 9.6 ZFYVE26 WASHC5 SPG21 REEP1
47 spastic paraplegia 35, autosomal recessive 9.6 ZFYVE26 WASHC5 SPG21 REEP1
48 spastic paraplegia 10, autosomal dominant 9.6 ZFYVE26 WASHC5 SPG21 REEP1
49 spastic paraplegia 2, x-linked 9.6 ZFYVE26 WASHC5 SPG21 REEP1
50 spastic paraplegia 42, autosomal dominant 9.6 ZFYVE26 WASHC5 SLC33A1 REEP1

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

Human phenotypes related to Spastic Paraplegia 25, Autosomal Recessive:

58 31 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 paraparesis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002385
2 herniation of intervertebral nuclei 58 31 hallmark (90%) Very frequent (99-80%) HP:0008441
3 sensory neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0000763
4 spastic paraplegia 58 31 frequent (33%) Frequent (79-30%) HP:0001258
5 neck pain 58 31 frequent (33%) Frequent (79-30%) HP:0030833
6 lower limb pain 58 31 frequent (33%) Frequent (79-30%) HP:0012514
7 abnormality of peripheral nerve conduction 58 31 occasional (7.5%) Occasional (29-5%) HP:0003134
8 developmental glaucoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0001087
9 developmental cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000519
10 upper limb pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0012513
11 sensorimotor neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0007141
12 cervical spondylosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0008480
13 abnormal lumbar spine morphology 31 occasional (7.5%) HP:0100712
14 back pain 31 HP:0003418
15 abnormality of the lumbar spine 58 Occasional (29-5%)
16 spinal cord compression 31 HP:0002176

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

UMLS symptoms related to Spastic Paraplegia 25, Autosomal Recessive:


back pain; neck pain

MGI Mouse Phenotypes related to Spastic Paraplegia 25, Autosomal Recessive:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.17 FGF14 REEP1 SLC33A1 SPG21 TTBK2 WASHC5

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:

40
Spinal Cord, Bone

Publications for Spastic Paraplegia 25, Autosomal Recessive

Articles related to Spastic Paraplegia 25, Autosomal Recessive:

# Title Authors PMID Year
1
Genetic mapping of a susceptibility locus for disc herniation and spastic paraplegia on 6q23.3-q24.1. 57
12070243 2002
2
Effects of inorganic polyphosphate on bone sialoprotein gene expression. 61
20060443 2010

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

GO Terms for Spastic Paraplegia 25, Autosomal Recessive

Sources for Spastic Paraplegia 25, Autosomal Recessive

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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