SPG31
MCID: SPS148
MIFTS: 47

Spastic Paraplegia 31, Autosomal Dominant (SPG31)

Categories: Bone diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Spastic Paraplegia 31, Autosomal Dominant

MalaCards integrated aliases for Spastic Paraplegia 31, Autosomal Dominant:

Name: Spastic Paraplegia 31, Autosomal Dominant 56 52 73 29 13 6 71
Spg31 56 12 52 25 58 73
Autosomal Dominant Spastic Paraplegia Type 31 12 58
Autosomal Dominant Spastic Paraplegia 31 12 25
Hereditary Spastic Paraplegia 31 12 15
Spastic Paraplegia 31 52 25
Paraplegia, Spastic, Autosomal Dominant, Type 31 39
Spastic Paraplegia Type 31 25

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant spastic paraplegia type 31
Inheritance: Autosomal dominant; Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
most patients have pure spastic paraplegia, some have complicated spastic paraplegia
bimodal age of onset
most have onset in first or second decade
a minority of patients have onset after age 30 years


HPO:

31
spastic paraplegia 31, autosomal dominant:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110782
OMIM 56 610250
OMIM Phenotypic Series 56 PS303350
MeSH 43 D015419
ICD10 32 G11.4
ICD10 via Orphanet 33 G11.4
UMLS via Orphanet 72 C1853247
Orphanet 58 ORPHA101011
MedGen 41 C1853247
UMLS 71 C1853247

Summaries for Spastic Paraplegia 31, Autosomal Dominant

Genetics Home Reference : 25 Spastic paraplegia type 31 is one of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia) caused by degeneration of nerve cells (neurons) that trigger muscle movement. Hereditary spastic paraplegias are divided into two types: pure and complicated. The pure types involve only the lower limbs, while the complicated types also involve the upper limbs and other areas of the body, including the brain. Spastic paraplegia type 31 is usually a pure hereditary spastic paraplegia, although a few complicated cases have been reported. The first signs and symptoms of spastic paraplegia type 31 usually appear before age 20 or after age 30. An early feature is difficulty walking due to spasticity and weakness, which typically affect both legs equally. People with spastic paraplegia type 31 can also experience progressive muscle wasting (amyotrophy) in the lower limbs, exaggerated reflexes (hyperreflexia), a decreased ability to feel vibrations, reduced bladder control, and high-arched feet (pes cavus). As the condition progresses, some individuals require walking support.

MalaCards based summary : Spastic Paraplegia 31, Autosomal Dominant, also known as spg31, is related to spasticity and axonal neuropathy. An important gene associated with Spastic Paraplegia 31, Autosomal Dominant is REEP1 (Receptor Accessory Protein 1), and among its related pathways/superpathways is Endocytosis. Affiliated tissues include brain, spinal cord and skeletal muscle, and related phenotypes are proximal muscle weakness in lower limbs and brisk reflexes

Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the REEP1 gene on chromosome 2p11.

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 101011 Definition A rare type of hereditary spastic paraplegia usually characterized by a pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (>30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy , bulbar palsy (with dysarthria and dysphagia ), distal amyotrophy, and impaired distal vibration sense. Visit the Orphanet disease page for more resources.

UniProtKB/Swiss-Prot : 73 Spastic paraplegia 31, autosomal dominant: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body.

More information from OMIM: 610250 PS303350

Related Diseases for Spastic Paraplegia 31, Autosomal Dominant

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 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 Spastic Paraplegia 80, Autosomal Dominant
Hereditary Spastic Paraplegia 23 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 31, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 85)
# Related Disease Score Top Affiliating Genes
1 spasticity 30.0 WASHC5 SPG7 SPAST REEP1
2 axonal neuropathy 30.0 ZFYVE26 SPG11 KIF5A ATL1
3 spastic paraplegia 3, autosomal dominant 28.7 ZFYVE26 WASHC5 SPG11 SPAST RTN2 REEP1
4 paraplegia 25.1 ZFYVE27 ZFYVE26 WASHC5 SPG7 SPG21 SPG11
5 hereditary spastic paraplegia 25.1 ZFYVE27 ZFYVE26 WASHC5 SPG7 SPG21 SPG11
6 spastic paraplegia 4, autosomal dominant 25.0 ZFYVE27 ZFYVE26 WASHC5 SPG7 SPG21 SPG11
7 neuropathy, hereditary sensory, type id 10.3 KIF5A ATL1
8 tremor 10.3
9 spinal cord neuroblastoma 10.2 ZFYVE27 REEP1
10 spinal cord primitive neuroectodermal neoplasm 10.2 ZFYVE27 REEP1
11 primary lateral sclerosis, adult, 1 10.2 SPG7 SPAST
12 spinocerebellar ataxia, autosomal recessive 20 10.2 ZFYVE26 SPG11
13 spastic paraplegia 57, autosomal recessive 10.2 SPG11 REEP1 KIF5A
14 spastic paraplegia 41, autosomal dominant 10.1 SPG21 SPAST
15 ataxia and polyneuropathy, adult-onset 10.1
16 aceruloplasminemia 10.1
17 peripheral nervous system disease 10.1
18 neuropathy 10.1
19 spastic paraplegia 3a 10.1
20 spastic paraplegia 4 10.1
21 neuronopathy, distal hereditary motor, type vb 10.1
22 autosomal dominant distal hereditary motor neuronopathy 10.1
23 neuronopathy, distal hereditary motor, type va 10.1 REEP1 BSCL2
24 spastic paraparesis 10.0 SPG7 SPG11 SPAST
25 charcot-marie-tooth disease, axonal, type 2r 10.0 ZFYVE26 SPG21
26 spastic paraplegia 49, autosomal recessive 10.0 ZFYVE26 SPG21 SPG11
27 spastic paraplegia 63, autosomal recessive 10.0 SPG21 SPG11
28 spastic paraplegia 34, x-linked 10.0 ZFYVE26 WASHC5 SPG21
29 spastic paraplegia 29, autosomal dominant 10.0 ZFYVE26 WASHC5 SPG21
30 spastic paraplegia 37, autosomal dominant 10.0 ZFYVE26 WASHC5 SPG21
31 spastic paraplegia 55, autosomal recessive 10.0 ZFYVE26 SPG21 SPG11
32 spastic paraplegia 25, autosomal recessive 10.0 ZFYVE26 WASHC5 SPG21
33 motor peripheral neuropathy 9.9 SPG11 REEP1 BSCL2
34 spinal muscular atrophy, distal, autosomal recessive, 2 9.9 REEP1 BSCL2
35 spastic paraplegia 64, autosomal recessive 9.9 SPG7 SPG21 SPG11
36 neuropathy, hereditary sensory, type iic 9.9 SPG21 SPG11 RTN2 REEP1
37 spastic paraplegia 43, autosomal recessive 9.9 ZFYVE27 ZFYVE26 SPG11 SPAST
38 spastic paraplegia 77, autosomal recessive 9.9 ZFYVE26 SPG11 CYP7B1
39 mast syndrome 9.9 ZFYVE27 SPG21 SPG11
40 charcot-marie-tooth disease, axonal, type 2t 9.9 ZFYVE26 SPG21
41 pure hereditary spastic paraplegia 9.8 SPAST RTN2 NIPA1 KIF5A ATL1
42 spastic paraplegia 53, autosomal recessive 9.8 RTN2 ATL1 AP5Z1
43 spastic paraplegia 32, autosomal recessive 9.8 ZFYVE26 SPG7 SPG21 SPG11
44 spastic paraplegia 11, autosomal recessive 9.7 ZFYVE26 SPG7 SPG21 SPG11
45 spastic paraplegia 28, autosomal recessive 9.7 SPG7 SPG11 REEP1 CYP7B1
46 spastic paraplegia 16, x-linked 9.6 ZFYVE26 WASHC5 SPG21 SPG11 SPAST
47 spastic paraplegia 14, autosomal recessive 9.6 ZFYVE26 WASHC5 SPG21 SPG11 SPAST
48 spastic paraplegia 24, autosomal recessive 9.6 SPG7 SPG21 CYP7B1
49 spastic paraplegia 61, autosomal recessive 9.6 SPG21 SPAST RTN2 REEP2 REEP1 ATL1
50 spastic paraplegia 19, autosomal dominant 9.6 ZFYVE26 WASHC5 SPG21 BSCL2

Graphical network of the top 20 diseases related to Spastic Paraplegia 31, Autosomal Dominant:



Diseases related to Spastic Paraplegia 31, Autosomal Dominant

Symptoms & Phenotypes for Spastic Paraplegia 31, Autosomal Dominant

Human phenotypes related to Spastic Paraplegia 31, Autosomal Dominant:

58 31 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 proximal muscle weakness in lower limbs 58 31 hallmark (90%) Very frequent (99-80%) HP:0008994
2 brisk reflexes 58 31 hallmark (90%) Very frequent (99-80%) HP:0001348
3 spastic gait 58 31 hallmark (90%) Very frequent (99-80%) HP:0002064
4 impaired proprioception 58 31 frequent (33%) Frequent (79-30%) HP:0010831
5 pes cavus 58 31 occasional (7.5%) Frequent (79-30%) HP:0001761
6 proximal lower limb amyotrophy 58 31 frequent (33%) Frequent (79-30%) HP:0008956
7 difficulty walking 58 31 frequent (33%) Frequent (79-30%) HP:0002355
8 hyperreflexia in upper limbs 58 31 frequent (33%) Frequent (79-30%) HP:0007350
9 lower limb hyperreflexia 58 31 frequent (33%) Frequent (79-30%) HP:0002395
10 difficulty running 58 31 frequent (33%) Frequent (79-30%) HP:0009046
11 distal sensory impairment 58 31 frequent (33%) Frequent (79-30%) HP:0002936
12 dysarthria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001260
13 dysphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002015
14 bulbar signs 58 31 occasional (7.5%) Occasional (29-5%) HP:0002483
15 spastic tetraparesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001285
16 hand muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0030237
17 urinary urgency 31 occasional (7.5%) HP:0000012
18 gait disturbance 58 Frequent (79-30%)
19 hypertonia 58 Frequent (79-30%)
20 skeletal muscle atrophy 31 HP:0003202
21 babinski sign 31 HP:0003487
22 spastic paraplegia 31 HP:0001258
23 lower limb muscle weakness 31 HP:0007340
24 ankle clonus 31 HP:0011448

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
hyperreflexia
dysarthria
lower limb spasticity
ankle clonus
spastic gait
more
Abdomen Gastrointestinal:
dysphagia (less common)

Skeletal Feet:
pes cavus (less common)

Muscle Soft Tissue:
amyotrophy
muscle wasting due to chronic denervation

Neurologic Peripheral Nervous System:
distal sensory loss

Genitourinary Bladder:
urinary urgency (less common)

Clinical features from OMIM:

610250

GenomeRNAi Phenotypes related to Spastic Paraplegia 31, Autosomal Dominant according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased vaccinia virus (VACV) infection GR00249-S 9.55 AP5Z1 ATL1 BSCL2 CYP7B1 KIF5A NIPA1

Drugs & Therapeutics for Spastic Paraplegia 31, Autosomal Dominant

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Disease Natural History and Biomarkers of SPG3A, SPG4 and SPG31 Recruiting NCT02859428

Search NIH Clinical Center for Spastic Paraplegia 31, Autosomal Dominant

Genetic Tests for Spastic Paraplegia 31, Autosomal Dominant

Genetic tests related to Spastic Paraplegia 31, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Spastic Paraplegia 31, Autosomal Dominant 29 REEP1

Anatomical Context for Spastic Paraplegia 31, Autosomal Dominant

MalaCards organs/tissues related to Spastic Paraplegia 31, Autosomal Dominant:

40
Brain, Spinal Cord, Skeletal Muscle, Eye, Bone, Skin

Publications for Spastic Paraplegia 31, Autosomal Dominant

Articles related to Spastic Paraplegia 31, Autosomal Dominant:

(show all 46)
# Title Authors PMID Year
1
New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP). 61 56 6
19034539 2009
2
REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31. 61 56 6
18321925 2008
3
Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31. 61 56 6
16826527 2006
4
Hereditary spastic paraplegia-linked REEP1 modulates endoplasmic reticulum/mitochondria contacts. 6
26201691 2015
5
Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V. 6
22703882 2012
6
A new locus for dominant hereditary spastic paraplegia maps to chromosome 2p12. 56
16565863 2006
7
Hereditary Spastic Paraplegia Overview 6
20301682 2000
8
A complete overview of REEP1: old and new insights on its role in hereditary spastic paraplegia and neurodegeneration. 61
31913854 2020
9
SPG8 mutations in Italian families: clinical data and literature review. 61
31814071 2019
10
Determinants of age at onset in a Portuguese cohort of autosomal dominant spastic paraplegia. 61
31887672 2019
11
Peripheral neuropathy in hereditary spastic paraplegia caused by REEP1 variants. 61
30637453 2019
12
[Common forms of hereditary spastic paraplegias]. 61
30874534 2019
13
Naringenin Ameliorates Drosophila ReepA Hereditary Spastic Paraplegia-Linked Phenotypes. 61
31803000 2019
14
JASPAC: Japan Spastic Paraplegia Research Consortium. 61
30104498 2018
15
Spastic paraplegia type 31: A novel REEP1 splice site donor variant and expansion of the phenotype variability. 61
29107646 2018
16
De novo REEP2 missense mutation in pure hereditary spastic paraplegia. 61
28491902 2017
17
Mitochondrial morphology and cellular distribution are altered in SPG31 patients and are linked to DRP1 hyperphosphorylation. 61
28007911 2017
18
Hereditary spastic paraplegia due to a novel mutation of the REEP1 gene: Case report and literature review. 61
28099355 2017
19
Reep1 null mice reveal a converging role for hereditary spastic paraplegia proteins in lipid droplet regulation. 61
27638887 2016
20
Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients. 61
26671083 2015
21
High frequency of SPG4 in Taiwanese families with autosomal dominant hereditary spastic paraplegia. 61
25421405 2014
22
[Japan Spastic Paraplegia Research Consortium (JASPAC)]. 61
25296875 2014
23
Protrudin regulates endoplasmic reticulum morphology and function associated with the pathogenesis of hereditary spastic paraplegia. 61
24668814 2014
24
SPG31 presenting with orthostatic tremor. 61
24628902 2014
25
[Hereditary spastic paraplegia: up to date]. 61
25519960 2014
26
Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia. 61
23812641 2013
27
A spastic paraplegia mouse model reveals REEP1-dependent ER shaping. 61
24051375 2013
28
Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms. 61
23897027 2013
29
Protrudin binds atlastins and endoplasmic reticulum-shaping proteins and regulates network formation. 61
23969831 2013
30
Autosomal dominant spastic paraplegias: a review of 89 families resulting from a portuguese survey. 61
23400676 2013
31
REEPs are membrane shaping adapter proteins that modulate specific g protein-coupled receptor trafficking by affecting ER cargo capacity. 61
24098485 2013
32
Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy. 61
23065789 2012
33
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. 61
22554690 2012
34
[Hereditary spastic paraplegia in Japan]. 61
22277506 2011
35
REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction. 61
21618648 2011
36
Expansion of the phenotypic spectrum of SPG6 caused by mutation in NIPA1. 61
21419568 2011
37
Clinical and genetic findings in a series of Italian children with pure hereditary spastic paraplegia. 61
20550563 2011
38
[Japan spastic paraplegia research consortium (JASPAC)]. 61
21921516 2010
39
Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network. 61
20200447 2010
40
Receptor expression-enhancing protein 1 gene (SPG31) mutations are rare in Chinese Han patients with hereditary spastic paraplegia. 61
19781397 2009
41
Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study. 61
19339254 2009
42
Interstitial deletion 2p11.2-p12: report of a patient with mental retardation and review of the literature. 61
19161151 2009
43
Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31). 61
18644145 2008
44
A novel candidate locus on chromosome 11p14.1-p11.2 for autosomal dominant hereditary spastic paraplegia. 61
18364116 2008
45
Molecular characterization of a senescence-associated gene encoding cysteine proteinase and its gene expression during leaf senescence in sweet potato. 61
12354916 2002
46
Cloning and characterization of leaf senescence up-regulated genes in sweet potato. 61
12060284 2001

Variations for Spastic Paraplegia 31, Autosomal Dominant

ClinVar genetic disease variations for Spastic Paraplegia 31, Autosomal Dominant:

6 (show all 49) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 REEP1 NM_001164732.2(REEP1):c.182+12006A>TSNV Pathogenic 188118 rs786204081 2:86479082-86479082 2:86251959-86251959
2 REEP1 NM_001164731.2(REEP1):c.514+1G>ASNV Pathogenic 224884 rs869312880 2:86459747-86459747 2:86232624-86232624
3 REEP1 NM_001164731.2(REEP1):c.102-2A>GSNV Pathogenic 1860 rs387906264 2:86481939-86481939 2:86254816-86254816
4 REEP1 NM_001164731.2(REEP1):c.25-18175C>ASNV Pathogenic 1862 rs121918262 2:86509339-86509339 2:86282216-86282216
5 REEP1 NM_001164732.2(REEP1):c.182+11928C>TSNV Pathogenic 1863 rs121918263 2:86479160-86479160 2:86252037-86252037
6 REEP1 NM_001164731.2(REEP1):c.32G>A (p.Trp11Ter)SNV Pathogenic 411804 rs1060503494 2:86491157-86491157 2:86264034-86264034
7 REEP1 NC_000002.11:g.(?_86491068)_(86491184_?)deldeletion Pathogenic 465818 2:86491068-86491184 2:86263945-86264061
8 REEP1 NC_000002.11:g.(?_86564592)_(86564643_?)deldeletion Pathogenic 654092 2:86564592-86564643 2:86337469-86337520
9 REEP1 NM_001164731.2(REEP1):c.431del (p.Pro144fs)deletion Pathogenic/Likely pathogenic 1859 rs387906263 2:86459831-86459831 2:86232708-86232708
10 REEP1 NM_001164731.2(REEP1):c.25-18178C>GSNV Likely pathogenic 411807 rs1060503496 2:86509342-86509342 2:86282219-86282219
11 REEP1 NM_001164731.2(REEP1):c.457_472del (p.Gly153fs)deletion Likely pathogenic 411806 rs1064792986 2:86459790-86459805 2:86232667-86232682
12 REEP1 NM_001164731.2(REEP1):c.414del (p.Ala139fs)deletion Likely pathogenic 579902 rs1558875298 2:86459848-86459848 2:86232725-86232725
13 REEP1 NM_001371279.1(REEP1):c.515del (p.Pro172fs)deletion Likely pathogenic 653177 2:86459828-86459828 2:86232705-86232705
14 REEP1 NM_001164731.2(REEP1):c.25-18203A>GSNV Likely pathogenic 640374 2:86509367-86509367 2:86282244-86282244
15 REEP1 NM_001164731.2(REEP1):c.524A>G (p.Ter175Trp)SNV Conflicting interpretations of pathogenicity 242633 rs587781248 2:86444224-86444224 2:86217101-86217101
16 REEP1 NM_001164731.2(REEP1):c.437C>T (p.Pro146Leu)SNV Conflicting interpretations of pathogenicity 465821 rs777245164 2:86459825-86459825 2:86232702-86232702
17 REEP1 NM_001164732.2(REEP1):c.182+11999T>ASNV Conflicting interpretations of pathogenicity 386520 rs368965566 2:86479089-86479089 2:86251966-86251966
18 REEP1 NM_001164731.2(REEP1):c.*43G>TSNV Conflicting interpretations of pathogenicity 1861 rs377637314 2:86444180-86444180 2:86217057-86217057
19 REEP1 NM_001164731.2(REEP1):c.*50G>ASNV Conflicting interpretations of pathogenicity 215087 rs189652973 2:86444173-86444173 2:86217050-86217050
20 REEP1 NM_001164731.2(REEP1):c.2T>G (p.Met1Arg)SNV Uncertain significance 215086 rs863224189 2:86564624-86564624 2:86337501-86337501
21 REEP1 NM_001164731.2(REEP1):c.343G>C (p.Gly115Arg)SNV Uncertain significance 220728 rs864622642 2:86459919-86459919 2:86232796-86232796
22 REEP1 NC_000002.11:g.(?_86441116)_(86509365_?)dupduplication Uncertain significance 417564 2:86441116-86509365 2:86213993-86282242
23 REEP1 NM_001164731.2(REEP1):c.359G>T (p.Arg120Ile)SNV Uncertain significance 411808 rs1060503497 2:86459903-86459903 2:86232780-86232780
24 REEP1 NM_001164731.2(REEP1):c.85G>A (p.Asp29Asn)SNV Uncertain significance 411803 rs1060503493 2:86491104-86491104 2:86263981-86263981
25 REEP1 NM_001164732.2(REEP1):c.182+9162A>GSNV Uncertain significance 465819 rs1553461508 2:86481926-86481926 2:86254803-86254803
26 REEP1 NM_001164731.2(REEP1):c.25-18185C>ASNV Uncertain significance 465820 rs1553465460 2:86509349-86509349 2:86282226-86282226
27 REEP1 NM_001164731.2(REEP1):c.502G>T (p.Ala168Ser)SNV Uncertain significance 534214 rs757800031 2:86459760-86459760 2:86232637-86232637
28 REEP1 NM_001164732.2(REEP1):c.182+11913G>ASNV Uncertain significance 534217 rs1474498257 2:86479175-86479175 2:86252052-86252052
29 REEP1 NM_001164732.2(REEP1):c.182+9255T>CSNV Uncertain significance 534215 rs1553461473 2:86481833-86481833 2:86254710-86254710
30 REEP1 NM_001164732.2(REEP1):c.182+11991G>ASNV Uncertain significance 534212 rs747398780 2:86479097-86479097 2:86251974-86251974
31 REEP1 NM_001164732.2(REEP1):c.182+11983C>TSNV Uncertain significance 534213 rs1553461131 2:86479105-86479105 2:86251982-86251982
32 REEP1 NM_001164732.2(REEP1):c.182+9168A>TSNV Uncertain significance 534218 rs1553461506 2:86481920-86481920 2:86254797-86254797
33 REEP1 NM_001164731.2(REEP1):c.461A>C (p.Lys154Thr)SNV Uncertain significance 534219 rs1039369434 2:86459801-86459801 2:86232678-86232678
34 REEP1 NM_001164732.2(REEP1):c.182+11944T>GSNV Uncertain significance 534220 rs1553461156 2:86479144-86479144 2:86252021-86252021
35 REEP1 NM_001164731.2(REEP1):c.95T>C (p.Leu32Pro)SNV Uncertain significance 534216 rs1553462741 2:86491094-86491094 2:86263971-86263971
36 REEP1 NC_000002.11:g.(?_86444142)_(86444253_?)deldeletion Uncertain significance 583480 2:86444142-86444253 2:86217019-86217130
37 REEP1 NM_001164731.2(REEP1):c.459C>T (p.Gly153=)SNV Uncertain significance 568999 rs1218144193 2:86459803-86459803 2:86232680-86232680
38 REEP1 NM_001164731.2(REEP1):c.364C>T (p.Arg122Trp)SNV Uncertain significance 577059 rs771715116 2:86459898-86459898 2:86232775-86232775
39 REEP1 NM_001164732.2(REEP1):c.182+11962G>ASNV Uncertain significance 578547 rs757087677 2:86479126-86479126 2:86252003-86252003
40 REEP1 NM_001164732.2(REEP1):c.182+9257T>CSNV Uncertain significance 578828 rs1558891694 2:86481831-86481831 2:86254708-86254708
41 REEP1 NM_001164732.2(REEP1):c.182+11982A>GSNV Uncertain significance 575897 rs1558889637 2:86479106-86479106 2:86251983-86251983
42 REEP1 NM_001164731.2(REEP1):c.408C>T (p.Gly136=)SNV Uncertain significance 565347 rs750875451 2:86459854-86459854 2:86232731-86232731
43 REEP1 NM_001164732.2(REEP1):c.182+11964G>ASNV Uncertain significance 566687 rs1375850288 2:86479124-86479124 2:86252001-86252001
44 REEP1 NM_001164731.2(REEP1):c.522del (p.Ter175ArgextTer?)deletion Uncertain significance 617748 rs1558863350 2:86444226-86444226 2:86217103-86217103
45 REEP1 NM_001164731.2(REEP1):c.480G>A (p.Met160Ile)SNV Uncertain significance 645747 2:86459782-86459782 2:86232659-86232659
46 REEP1 NM_001164731.2(REEP1):c.35T>G (p.Met12Arg)SNV Uncertain significance 655038 2:86491154-86491154 2:86264031-86264031
47 REEP1 NM_001164731.2(REEP1):c.25-18158G>ASNV Uncertain significance 665066 2:86509322-86509322 2:86282199-86282199
48 REEP1 NC_000002.11:g.(?_86444152)_(86509375_?)dupduplication Uncertain significance 643719 2:86444152-86509375 2:86217029-86282252
49 REEP1 NM_001164732.2(REEP1):c.182+9253G>ASNV Benign 130108 rs2276625 2:86481835-86481835 2:86254712-86254712

UniProtKB/Swiss-Prot genetic disease variations for Spastic Paraplegia 31, Autosomal Dominant:

73
# Symbol AA change Variation ID SNP ID
1 REEP1 p.Ala20Glu VAR_027351 rs121918262
2 REEP1 p.Pro19Leu VAR_067265
3 REEP1 p.Ser23Phe VAR_067266
4 REEP1 p.Trp42Arg VAR_067267
5 REEP1 p.Pro19Arg VAR_072609 rs106050349
6 REEP1 p.Leu107Pro VAR_072611

Expression for Spastic Paraplegia 31, Autosomal Dominant

Search GEO for disease gene expression data for Spastic Paraplegia 31, Autosomal Dominant.

Pathways for Spastic Paraplegia 31, Autosomal Dominant

Pathways related to Spastic Paraplegia 31, Autosomal Dominant according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.32 ZFYVE27 WASHC5 SPG21 KIF5A

GO Terms for Spastic Paraplegia 31, Autosomal Dominant

Cellular components related to Spastic Paraplegia 31, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.18 ZFYVE27 SPG7 SPG21 SPAST RTN2 REEP4
2 integral component of membrane GO:0016021 10.14 ZFYVE27 SPG7 SPAST RTN2 REEP4 REEP2
3 endoplasmic reticulum GO:0005783 9.65 ZFYVE27 WASHC5 SPAST RTN2 REEP4 REEP2
4 integral component of endoplasmic reticulum membrane GO:0030176 9.5 ZFYVE27 RTN2 BSCL2
5 axon cytoplasm GO:1904115 9.43 SPG7 SPAST KIF5A
6 endoplasmic reticulum tubular network GO:0071782 9.33 ZFYVE27 REEP1 ATL1
7 endoplasmic reticulum membrane GO:0005789 9.28 ZFYVE27 SPAST RTN2 REEP4 REEP2 REEP1

Biological processes related to Spastic Paraplegia 31, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 anterograde axonal transport GO:0008089 9.26 SPG7 SPAST
2 synaptic vesicle transport GO:0048489 9.16 SPG11 KIF5A
3 endoplasmic reticulum tubular network organization GO:0071786 8.96 REEP2 REEP1
4 regulation of intracellular transport GO:0032386 8.62 REEP2 REEP1

Molecular functions related to Spastic Paraplegia 31, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 microtubule binding GO:0008017 8.92 SPAST REEP4 REEP1 KIF5A

Sources for Spastic Paraplegia 31, Autosomal Dominant

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....