MCID: SPS128
MIFTS: 50

Spastic Paraplegia 7, Autosomal Recessive

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

Aliases & Classifications for Spastic Paraplegia 7, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 7, Autosomal Recessive:

Name: Spastic Paraplegia 7, Autosomal Recessive 53 71 13 69
Spg7 53 12 49 55 71
Spastic Paraplegia Type 7 12 24 55 69
Spastic Paraplegia 7 23 49 24 28
Autosomal Recessive Hereditary Spastic Paraplegia 24 69
Hereditary Spastic Paraplegia 7 12 14
Hereditary Spastic Paraplegia 23 24
Hereditary Spastic Paraplegia, Paraplegin Type 24
Hereditary Spastic Paraplegia Paraplegin Type 49
Autosomal Recessive Spastic Paraplegia 7 12
Spastic Paraplegia, Hereditary 69
Paraplegin Type 23
Paraplegin 13

Characteristics:

Orphanet epidemiological data:

55
spastic paraplegia type 7
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages;

OMIM:

53
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
mean age of onset 30 years (range 25-42)
complicated and pure forms
some patients carry heterozygous mutations


HPO:

31
spastic paraplegia 7, autosomal recessive:
Onset and clinical course adult onset
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



Summaries for Spastic Paraplegia 7, Autosomal Recessive

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 99013Disease definitionAutosomal recessive spastic paraplegia type 7 is a form of hereditary spastic paraplegia (see this term) characterized by an onset usually in adulthood (but ranging from 10-72 years) of progressive bilateral lower limb weakness and spasticity, sphincter dysfunction, decreased vibratory sense at the ankles and with additional manifestations including optical neuropathy, nystagmus, strabismus, decreased hearing, scoliosis, pes cavus, motor and sensory neuropathy, amyotrophy, blepharoptosis and ophthalmoplegia.Visit the Orphanet disease page for more resources. Last updated: 2/2/2015

MalaCards based summary : Spastic Paraplegia 7, Autosomal Recessive, also known as spg7, is related to spastic paraplegia 24, autosomal recessive and spastic paraplegia 32, autosomal recessive, and has symptoms including gait ataxia, lower limb muscle weakness and nystagmus. An important gene associated with Spastic Paraplegia 7, Autosomal Recessive is SPG7 (SPG7, Paraplegin Matrix AAA Peptidase Subunit), and among its related pathways/superpathways is Factors involved in megakaryocyte development and platelet production. Affiliated tissues include brain, spinal cord and eye, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Disease Ontology : 12 A hereditary spastic paraplegia that is characterized by slowly progressive onset, usually between 18-60 years of age, and generally more severe spasticity and has material basis in mutation in the SPG7 gene on chromosome 16q24.

Genetics Home Reference : 24 Spastic paraplegia type 7 is part 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). Hereditary spastic paraplegias are divided into two types: pure and complex. The pure types involve the lower limbs. The complex types involve the lower limbs and can also affect the upper limbs to a lesser degree; the structure or functioning of the brain; and the nerves connecting the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound (the peripheral nervous system). Spastic paraplegia type 7 can occur in either the pure or complex form.

OMIM : 53 Hereditary spastic paraplegia (SPG) is characterized by progressive weakness and spasticity of the lower limbs due to degeneration of corticospinal axons. There is considerable genetic heterogeneity. Inheritance is most often autosomal dominant (see 182600), but X-linked (see 312920) and autosomal recessive (see 270800) forms occur. SPG7 shows phenotypic variability between families. Some cases are pure, whereas other are complicated with additional neurologic features (Warnecke et al., 2007). (607259)

UniProtKB/Swiss-Prot : 71 Spastic paraplegia 7, autosomal recessive: 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. SPG7 is a complex form. Additional clinical features are cerebellar syndrome, supranuclear palsy, and cognitive impairment, particularly disturbance of attention and executive functions.

GeneReviews: NBK1107

Related Diseases for Spastic Paraplegia 7, 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 7, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 49)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 24, autosomal recessive 32.0 CYP7B1 SPG7
2 spastic paraplegia 32, autosomal recessive 31.9 SPG11 SPG7
3 spastic paraplegia 15, autosomal recessive 31.7 SPG11 SPG7 ZFYVE26
4 spastic paraplegia 49, autosomal recessive 31.7 SPG11 SPG7 ZFYVE26
5 spastic paraplegia 11, autosomal recessive 31.6 SPG11 SPG7
6 spastic paraplegia 4, autosomal dominant 31.5 NIPA1 SPAST SPG11 SPG7
7 paraplegia 31.4 CYP7B1 KIF1A KIF5A NIPA1 SPAST SPG11
8 spinocerebellar ataxia 28 31.0 AFG3L2 IMPACT SPG7
9 hereditary spastic paraplegia 30.3 AFG3L2 CYP7B1 GBA2 KIF1A KIF5A KY
10 spastic paraplegia 20, autosomal recessive 30.0 CYP7B1 GBA2 KIF1A KIF5A KY NIPA1
11 3-methylglutaconic aciduria, type iii 29.9 MFN1 MFN2 OPA1 RHBDL1 SPG7 YME1L1
12 spastic paraplegia 5a, autosomal recessive 11.5
13 spastic paraplegia 54, autosomal recessive 11.5
14 spasticity 11.4
15 spastic ataxia 11.3
16 autosomal recessive cerebellar ataxia 11.3
17 chronic progressive external ophthalmoplegia 11.3
18 hypoparathyroidism 11.0
19 kbg syndrome 10.9
20 hutchinson-gilford progeria syndrome 10.9
21 hereditary ataxia 10.9
22 familial hypocalciuric hypercalcemia 10.9
23 mitochondrial metabolism disease 10.9
24 orthostatic proteinuria 10.9
25 primary lateral sclerosis, adult, 1 10.7
26 mitochondrial disorders 10.7
27 spastic paraplegia 8, autosomal dominant 10.3 NIPA1 SPG11
28 spastic paraplegia 12, autosomal dominant 10.3 KIF5A SPAST
29 spastic paraplegia 48, autosomal recessive 10.3 SPG11 ZFYVE26
30 spastic paraplegia 10, autosomal dominant 10.3 KIF5A SPG11
31 spastic paraplegia 6, autosomal dominant 10.3 KIF5A NIPA1 SPAST
32 masa syndrome 10.2 NIPA1 SPAST SPG11
33 spastic paraplegia 35, autosomal recessive 10.2 SPG11 ZFYVE26
34 spastic paraplegia 3, autosomal dominant 10.2 NIPA1 SPAST SPG11
35 spastic paraparesis 10.2 SPAST SPG11
36 charcot-marie-tooth disease, axonal, type 2k 10.1 KIF1A KIF5A MFN2
37 ataxia and polyneuropathy, adult-onset 10.0
38 axonal neuropathy 9.9 KIF5A MFN2 SPG11 ZFYVE26
39 charcot-marie-tooth disease, axonal, type 2e 9.9 GBA2 MFN2 SPG11 ZFYVE26
40 hereditary motor and sensory neuropathy, type iic 9.8 MFN2 SPG11
41 optic atrophy 1 9.8 CYCS MFN2 OPA1
42 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 9.8
43 aceruloplasminemia 9.8
44 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 9.8
45 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 9.8
46 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 9.8
47 ataxia-oculomotor apraxia 3 9.8
48 optic nerve disease 9.7 MFN1 MFN2 OPA1
49 neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive 9.2 CYP7B1 GBA2 KIF1A KIF5A KY NIPA1

Comorbidity relations with Spastic Paraplegia 7, Autosomal Recessive via Phenotypic Disease Network (PDN):


Acute Cystitis

Graphical network of the top 20 diseases related to Spastic Paraplegia 7, Autosomal Recessive:



Diseases related to Spastic Paraplegia 7, Autosomal Recessive

Symptoms & Phenotypes for Spastic Paraplegia 7, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
nystagmus
optic atrophy
supranuclear palsy

Skeletal Spine:
scoliosis

Genitourinary Bladder:
urinary incontinence
urinary urgency
sphincter disturbances

Neurologic Central Nervous System:
dysarthria
hyperreflexia
cerebellar atrophy
spastic gait
lower limb spasticity
more
Skeletal Feet:
pes cavus

Abdomen Gastroin testinal:
dysphagia (rare)


Clinical features from OMIM:

607259

Human phenotypes related to Spastic Paraplegia 7, Autosomal Recessive:

31 (show all 21)
# Description HPO Frequency HPO Source Accession
1 gait ataxia 31 HP:0002066
2 lower limb muscle weakness 31 HP:0007340
3 nystagmus 31 HP:0000639
4 dysarthria 31 HP:0001260
5 hyperreflexia 31 HP:0001347
6 dysphagia 31 HP:0002015
7 scoliosis 31 HP:0002650
8 optic atrophy 31 HP:0000648
9 babinski sign 31 HP:0003487
10 pes cavus 31 HP:0001761
11 urinary bladder sphincter dysfunction 31 HP:0002839
12 cerebral cortical atrophy 31 HP:0002120
13 memory impairment 31 HP:0002354
14 spastic paraplegia 31 HP:0001258
15 cerebellar atrophy 31 HP:0001272
16 urinary incontinence 31 HP:0000020
17 spastic gait 31 HP:0002064
18 lower limb spasticity 31 HP:0002061
19 urinary urgency 31 HP:0000012
20 impaired vibration sensation in the lower limbs 31 HP:0002166
21 degeneration of the lateral corticospinal tracts 31 HP:0002314

UMLS symptoms related to Spastic Paraplegia 7, Autosomal Recessive:


gait ataxia, abnormal pyramidal signs, urgency of micturition, pain in lower limb, leg cramps

GenomeRNAi Phenotypes related to Spastic Paraplegia 7, Autosomal Recessive according to GeneCards Suite gene sharing:

25 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.77 IMPACT
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-142 9.77 YME1L1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-15 9.77 YME1L1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 9.77 IMPACT
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.77 KIF5A
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.77 KIF5A YME1L1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.77 YME1L1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-59 9.77 IMPACT KIF5A YME1L1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-61 9.77 IMPACT
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-77 9.77 KIF5A
11 Increased vaccinia virus (VACV) infection GR00249-S 9.6 SPAST SPG11 SPG7 YME1L1 ZFYVE26 AFG3L2

MGI Mouse Phenotypes related to Spastic Paraplegia 7, Autosomal Recessive:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.03 AFG3L2 CYCS KIF1A KIF5A KY MFN1
2 cellular MP:0005384 9.9 KIF5A MFN1 MFN2 OPA1 PARL SPG11
3 growth/size/body region MP:0005378 9.8 AFG3L2 CYCS KIF1A KIF5A KY MFN1
4 nervous system MP:0003631 9.44 AFG3L2 CYCS KIF1A KIF5A KY MFN1

Drugs & Therapeutics for Spastic Paraplegia 7, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 7, Autosomal Recessive

Genetic Tests for Spastic Paraplegia 7, Autosomal Recessive

Genetic tests related to Spastic Paraplegia 7, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Spastic Paraplegia 7 28 SPG7

Anatomical Context for Spastic Paraplegia 7, Autosomal Recessive

MalaCards organs/tissues related to Spastic Paraplegia 7, Autosomal Recessive:

38
Brain, Spinal Cord, Eye

Publications for Spastic Paraplegia 7, Autosomal Recessive

Articles related to Spastic Paraplegia 7, Autosomal Recessive:

(show all 25)
# Title Authors Year
1
Considering Spastic Paraplegia Type 7 and Adult-Onset Alexander Disease-Reply. ( 28459933 )
2017
2
Considering Spastic Paraplegia Type 7 and Adult-Onset Alexander Disease. ( 28459923 )
2017
3
A founder mutation p.H701P identified as a major cause of SPG7 in Norway. ( 26756429 )
2016
4
SPG7 mutations are a common cause of undiagnosed ataxia. ( 25681447 )
2015
5
SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. ( 26626314 )
2015
6
Abnormal Paraplegin Expression in Swollen Neurites, I8- and I+-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation. ( 26506339 )
2015
7
Identification of a novel homozygous SPG7 mutation by whole exome sequencing in a Greek family with a complicated form of hereditary spastic paraplegia. ( 26260707 )
2015
8
SPG7 Is an Essential and Conserved Component of the Mitochondrial Permeability Transition Pore. ( 26387735 )
2015
9
Predominant cerebellar phenotype in spastic paraplegia 7 (SPG7). ( 27081526 )
2015
10
SPG7 variant escapes phosphorylation-regulated processing by AFG3L2, elevates mitochondrial ROS, and is associated with multiple clinical phenotypes. ( 24767997 )
2014
11
Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance. ( 24727571 )
2014
12
Characterization of Alu and recombination-associated motifs mediating a large homozygous SPG7 gene rearrangement causing hereditary spastic paraplegia. ( 25398481 )
2014
13
Identification of a novel homozygous SPG7 mutation in a Japanese patient with spastic ataxia: making an efficient diagnosis using exome sequencing for autosomal recessive cerebellar ataxia and spastic paraplegia. ( 23857099 )
2013
14
The p.Ala510Val mutation in the SPG7 (paraplegin) gene is the most common mutation causing adult onset neurogenetic disease in patients of British ancestry. ( 23269439 )
2013
15
SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V. ( 22571692 )
2013
16
Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort. ( 22964162 )
2012
17
Alternative splicing of Spg7, a gene involved in hereditary spastic paraplegia, encodes a variant of paraplegin targeted to the endoplasmic reticulum. ( 22563492 )
2012
18
Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients. ( 21623769 )
2011
19
A novel splice site mutation in the SPG7 gene causing widespread fiber damage in homozygous and heterozygous subjects. ( 20108356 )
2010
20
Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene. ( 18563470 )
2008
21
A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia. ( 18200586 )
2008
22
A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation. ( 17646629 )
2007
23
Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia. ( 16534102 )
2006
24
A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia. ( 14985266 )
2004
25
Genomic structure and expression analysis of the spastic paraplegia gene, SPG7. ( 10480368 )
1999

Variations for Spastic Paraplegia 7, Autosomal Recessive

UniProtKB/Swiss-Prot genetic disease variations for Spastic Paraplegia 7, Autosomal Recessive:

71
# Symbol AA change Variation ID SNP ID
1 SPG7 p.Ser692Thr VAR_045898 rs121918357
2 SPG7 p.Gly349Ser VAR_063607 rs141659620
3 SPG7 p.Ala510Val VAR_063609 rs61755320
4 SPG7 p.Trp583Cys VAR_063612 rs267607085

ClinVar genetic disease variations for Spastic Paraplegia 7, Autosomal Recessive:

6 (show top 50) (show all 51)
# Gene Variation Type Significance SNP ID Assembly Location
1 GBA2 NM_020944.2(GBA2): c.1888C> T (p.Arg630Trp) single nucleotide variant Pathogenic rs398123012 GRCh37 Chromosome 9, 35738808: 35738808
2 GBA2 NM_020944.2(GBA2): c.2618G> A (p.Arg873His) single nucleotide variant Pathogenic rs398123015 GRCh37 Chromosome 9, 35737332: 35737332
3 SPG7 NM_003119.3(SPG7): c.1529C> T (p.Ala510Val) single nucleotide variant Pathogenic/Likely pathogenic rs61755320 GRCh37 Chromosome 16, 89613145: 89613145
4 C19orf12 NM_001031726.3(C19orf12): c.157G> A (p.Gly53Arg) single nucleotide variant Pathogenic/Likely pathogenic rs200133991 GRCh38 Chromosome 19, 29708290: 29708290
5 KIF1A NM_001244008.1(KIF1A): c.206C> T (p.Ser69Leu) single nucleotide variant Pathogenic rs786200949 GRCh37 Chromosome 2, 241727625: 241727625
6 SPG7 NM_003119.3(SPG7): c.1672A> T (p.Lys558Ter) single nucleotide variant Pathogenic rs369227537 GRCh38 Chromosome 16, 89550502: 89550502
7 SPG7 NM_003119.3(SPG7): c.1A> G (p.Met1Val) single nucleotide variant Likely pathogenic rs794726906 GRCh37 Chromosome 16, 89574826: 89574826
8 SPG11 NM_025137.3(SPG11): c.733_734delAT (p.Met245Valfs) deletion Pathogenic/Likely pathogenic rs312262720 GRCh37 Chromosome 15, 44949428: 44949429
9 NIPA1 NM_144599.4(NIPA1): c.316G> A (p.Gly106Arg) single nucleotide variant Pathogenic rs104894490 GRCh37 Chromosome 15, 23060816: 23060816
10 CYP7B1 NM_004820.4(CYP7B1): c.825T> A (p.Tyr275Ter) single nucleotide variant Pathogenic rs121908613 GRCh37 Chromosome 8, 65528273: 65528273
11 SPG7 SPG7, 2-BP DEL, NT784 deletion Pathogenic
12 SPG7 SPG7, 1-BP INS, 2228A insertion Pathogenic
13 SPG7 SPG7, 9.5-KB DEL deletion Pathogenic
14 SPG7 SPG7, 2-BP DEL, 1-BP INS, 850 indel Pathogenic
15 SPG7 SPG7, 3-BP DEL, 1742TGG deletion Pathogenic
16 SPG7 NM_003119.3(SPG7): c.2075G> C (p.Ser692Thr) single nucleotide variant Pathogenic rs121918357 GRCh37 Chromosome 16, 89620340: 89620340
17 SPG7 NM_003119.3(SPG7): c.233T> A (p.Leu78Ter) single nucleotide variant Pathogenic rs121918358 GRCh37 Chromosome 16, 89576947: 89576947
18 SPG7 SPG7, 1-BP DEL, 1616C deletion Pathogenic
19 SPG7 SPG7, 5.1-KB DEL deletion Pathogenic
20 SPG7 NM_003119.3(SPG7): c.1045G> A (p.Gly349Ser) single nucleotide variant Pathogenic/Likely pathogenic rs141659620 GRCh37 Chromosome 16, 89598369: 89598369
21 SPG7 NM_003119.3(SPG7): c.1749G> C (p.Trp583Cys) single nucleotide variant Pathogenic rs267607085 GRCh37 Chromosome 16, 89616987: 89616987
22 SPG7 NM_003119.3(SPG7): c.861dupT (p.Asn288Terfs) duplication Pathogenic rs797046003 GRCh37 Chromosome 16, 89595987: 89595987
23 SPG7 NM_003119.3(SPG7): c.2228T> C (p.Ile743Thr) single nucleotide variant Pathogenic/Likely pathogenic rs752623413 GRCh37 Chromosome 16, 89623341: 89623341
24 SPG7 NM_003119.3(SPG7): c.1408C> T (p.Arg470Ter) single nucleotide variant Pathogenic rs748555510 GRCh38 Chromosome 16, 89544731: 89544731
25 SPG7 NM_003119.3(SPG7): c.1729G> A (p.Gly577Ser) single nucleotide variant Likely pathogenic rs72547552 GRCh38 Chromosome 16, 89550559: 89550559
26 SPG7 NM_003119.3(SPG7): c.473_474delTC (p.Leu158Glnfs) deletion Pathogenic rs879253798 GRCh37 Chromosome 16, 89590510: 89590511
27 SPG7 NM_003119.3(SPG7): c.988-1G> A single nucleotide variant Pathogenic rs748309520 GRCh37 Chromosome 16, 89598311: 89598311
28 SPG7 NM_003119.3(SPG7): c.1715C> T (p.Ala572Val) single nucleotide variant Pathogenic/Likely pathogenic rs72547551 GRCh37 Chromosome 16, 89616953: 89616953
29 SPG7 NM_003119.3(SPG7): c.1996G> A (p.Gly666Arg) single nucleotide variant Pathogenic rs752989523 GRCh38 Chromosome 16, 89553853: 89553853
30 SPG7 NM_003119.3(SPG7): c.2249C> T (p.Pro750Leu) single nucleotide variant Pathogenic rs879253797 GRCh37 Chromosome 16, 89623362: 89623362
31 SPG7 NM_003119.3(SPG7): c.976_987+3delGATTATCTGAAGGTG deletion Pathogenic/Likely pathogenic rs878854606 GRCh38 Chromosome 16, 89530797: 89530811
32 SPG7 NM_003119.3(SPG7): c.1553-?_1779+?del deletion Pathogenic
33 SPG7 NM_003119.3(SPG7): c.637C> T (p.Arg213Ter) single nucleotide variant Pathogenic rs774774648 GRCh37 Chromosome 16, 89592755: 89592755
34 SPG7 NM_003119.3(SPG7): c.1447C> T (p.Gln483Ter) single nucleotide variant Pathogenic/Likely pathogenic rs562890289 GRCh37 Chromosome 16, 89611178: 89611178
35 KY NM_178554.4(KY): c.51_52insTATCGACATGTGCTGTATCTATCGACAT (p.Val18Tyrfs) insertion Pathogenic rs1085307110 GRCh37 Chromosome 3, 134369751: 134369752
36 SPG7 NM_003119.3(SPG7): c.1053dupC (p.Gly352Argfs) duplication Pathogenic rs760818649 GRCh38 Chromosome 16, 89531969: 89531969
37 SPG7 NM_003119.3(SPG7): c.2096dupT (p.Met699Ilefs) duplication Pathogenic rs1060503427 GRCh38 Chromosome 16, 89553953: 89553953
38 SPG7 NM_003119.3(SPG7): c.1628_1629delTC (p.Leu543Glnfs) deletion Pathogenic rs1060503426 GRCh38 Chromosome 16, 89548078: 89548079
39 SPG7 NM_003119.3(SPG7): c.376+1G> T single nucleotide variant Pathogenic/Likely pathogenic rs746053679 GRCh38 Chromosome 16, 89513038: 89513038
40 SPG7 NM_003119.3(SPG7): c.1045_1046delGGinsAGC (p.Gly349Serfs) indel Pathogenic rs1060503425 GRCh38 Chromosome 16, 89531961: 89531962
41 SPG7 NM_003119.3(SPG7): c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del) deletion Pathogenic/Likely pathogenic rs768823392 GRCh38 Chromosome 16, 89546662: 89546670
42 KIF1A NM_001244008.1(KIF1A): c.31C> T (p.Arg11Trp) single nucleotide variant Pathogenic rs548204329 GRCh37 Chromosome 2, 241737139: 241737139
43 SPAST NM_014946.3(SPAST): c.1133T> A (p.Leu378Gln) single nucleotide variant Pathogenic GRCh37 Chromosome 2, 32352051: 32352051
44 CYP7B1 NM_004820.4(CYP7B1): c.914dup (p.Met305Ilefs) duplication Pathogenic GRCh37 Chromosome 8, 65527726: 65527726
45 KIF5A NM_004984.3(KIF5A): c.610C> T (p.Arg204Trp) single nucleotide variant Pathogenic GRCh38 Chromosome 12, 57567514: 57567514
46 ZFYVE26 NM_015346.3(ZFYVE26): c.6296dup (p.Asn2100Glufs) duplication Pathogenic GRCh38 Chromosome 14, 67762276: 67762276
47 SPG7 NM_003119.3(SPG7): c.376G> C (p.Glu126Gln) single nucleotide variant Pathogenic/Likely pathogenic rs912983346 GRCh37 Chromosome 16, 89579445: 89579445
48 SPG11 NM_025137.3(SPG11): c.(2244+1_2245-1)_(2620+1_2621-1)del deletion Pathogenic
49 SPG7 NM_003119.3(SPG7): c.1033G> C (p.Ala345Pro) single nucleotide variant Likely pathogenic rs368373840 GRCh37 Chromosome 16, 89598357: 89598357
50 SPG7 NM_003119.3(SPG7): c.1937-2A> G single nucleotide variant Likely pathogenic rs568556987 GRCh37 Chromosome 16, 89620200: 89620200

Expression for Spastic Paraplegia 7, Autosomal Recessive

Search GEO for disease gene expression data for Spastic Paraplegia 7, Autosomal Recessive.

Pathways for Spastic Paraplegia 7, Autosomal Recessive

Pathways related to Spastic Paraplegia 7, Autosomal Recessive according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.12 KIF1A KIF5A MFN1 MFN2

GO Terms for Spastic Paraplegia 7, Autosomal Recessive

Cellular components related to Spastic Paraplegia 7, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.86 AFG3L2 CYCS MFN1 MFN2 OPA1 PARL
2 mitochondrial inner membrane GO:0005743 9.63 AFG3L2 CYCS OPA1 PARL SPG7 YME1L1
3 m-AAA complex GO:0005745 8.96 AFG3L2 SPG7
4 axon cytoplasm GO:1904115 8.92 KIF1A OPA1 SPAST SPG7

Biological processes related to Spastic Paraplegia 7, Autosomal Recessive according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.85 AFG3L2 KY PARL RHBDL1 SPG7 YME1L1
2 mitochondrion organization GO:0007005 9.55 AFG3L2 CYCS OPA1 SPG7 YME1L1
3 GTP metabolic process GO:0046039 9.49 MFN1 OPA1
4 mitochondrial calcium uptake GO:0036444 9.48 AFG3L2 OPA1
5 protein hexamerization GO:0034214 9.46 SPAST YME1L1
6 axonal transport of mitochondrion GO:0019896 9.43 OPA1 SPAST
7 anterograde axonal transport GO:0008089 9.43 KIF1A SPAST SPG7
8 mitochondrion localization GO:0051646 9.4 MFN1 MFN2
9 mitochondrial protein processing GO:0034982 9.32 AFG3L2 YME1L1
10 mitochondrial calcium ion transmembrane transport GO:0006851 9.26 AFG3L2 PARL SPG7 YME1L1
11 mitochondrial fusion GO:0008053 8.92 AFG3L2 MFN1 MFN2 OPA1

Molecular functions related to Spastic Paraplegia 7, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 microtubule binding GO:0008017 9.46 KIF1A KIF5A OPA1 SPAST
2 metalloendopeptidase activity GO:0004222 9.43 AFG3L2 SPG7 YME1L1
3 peptidase activity GO:0008233 9.43 AFG3L2 KY PARL RHBDL1 SPG7 YME1L1
4 hydrolase activity GO:0016787 9.36 AFG3L2 GBA2 KY MFN1 MFN2 OPA1

Sources for Spastic Paraplegia 7, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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36 KEGG
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41 MeSH
42 MESH via Orphanet
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47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
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58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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