MCID: SPS128
MIFTS: 49

Spastic Paraplegia 7, Autosomal Recessive

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

Aliases & Classifications for Spastic Paraplegia 7, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 7, Autosomal Recessive:

Name: Spastic Paraplegia 7, Autosomal Recessive 57 75 13 73
Spastic Paraplegia 7 24 53 25 29 6
Spg7 57 12 53 59 75
Spastic Paraplegia Type 7 12 25 59 73
Autosomal Recessive Hereditary Spastic Paraplegia 25 73
Hereditary Spastic Paraplegia 7 12 15
Hereditary Spastic Paraplegia 24 25
Paraplegia, Spastic, Autosomal Recessive, Type 7 40
Hereditary Spastic Paraplegia, Paraplegin Type 25
Hereditary Spastic Paraplegia Paraplegin Type 53
Autosomal Recessive Spastic Paraplegia 7 12
Spastic Paraplegia, Hereditary 73
Paraplegin Type 24
Paraplegin 13

Characteristics:

Orphanet epidemiological data:

59
spastic paraplegia type 7
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages;

OMIM:

57
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:

32
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

Genetics Home Reference : 25 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.

MalaCards based summary : Spastic Paraplegia 7, Autosomal Recessive, also known as spastic paraplegia 7, is related to spastic ataxia and hereditary ataxia, and has symptoms including leg cramps, pain in lower limb and urgency of micturition. An important gene associated with Spastic Paraplegia 7, Autosomal Recessive is SPG7 (SPG7, Paraplegin Matrix AAA Peptidase Subunit), and among its related pathways/superpathways are Glucose / Energy Metabolism and Mitophagy - animal. Affiliated tissues include brain, spinal cord and eye, and related phenotypes are nystagmus and dysarthria

OMIM : 57 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 : 75 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.

NIH Rare Diseases : 53 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.

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.

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 40)
# Related Disease Score Top Affiliating Genes
1 spastic ataxia 32.4 AFG3L2 SPG7
2 hereditary ataxia 31.7 AFG3L2 SPG7
3 mitochondrial disorders 30.8 MT-ND4 OPA1 SPG7
4 hutchinson-gilford progeria syndrome 30.8 CYCS SPG7
5 spinocerebellar ataxia 28 30.5 AFG3L2 IMPACT SPG7
6 3-methylglutaconic aciduria, type iii 28.0 MFN1 MFN2 MT-ND4 OPA1 RHBDL1 SPG7
7 paraplegia 11.5
8 hereditary spastic paraplegia 11.5
9 spasticity 11.4
10 autosomal recessive cerebellar ataxia 11.3
11 chronic progressive external ophthalmoplegia 11.3
12 hypoparathyroidism 11.0
13 spastic paraparesis 11.0
14 kbg syndrome 10.9
15 spastic paraplegia 4, autosomal dominant 10.9
16 spastic paraplegia 15, autosomal recessive 10.9
17 spastic paraplegia 20, autosomal recessive 10.9
18 spastic paraplegia 11, autosomal recessive 10.9
19 spastic paraplegia 24, autosomal recessive 10.9
20 spastic paraplegia 32, autosomal recessive 10.9
21 trehalase deficiency 10.9
22 spastic paraplegia 49, autosomal recessive 10.9
23 spastic paraplegia 73, autosomal dominant 10.9
24 spastic paraplegia 76, autosomal recessive 10.9
25 familial hypocalciuric hypercalcemia 10.9
26 mesangial proliferative glomerulonephritis 10.9
27 orthostatic proteinuria 10.9
28 primary lateral sclerosis, adult, 1 10.7
29 scotoma 10.1 MT-ND4 OPA1
30 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 9.8
31 aceruloplasminemia 9.8
32 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 9.8
33 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 9.8
34 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 9.8
35 ataxia-oculomotor apraxia 3 9.8
36 peripheral nervous system disease 9.8 MFN2 MT-ND4
37 cranial nerve disease 9.5 MFN1 MFN2 MT-ND4
38 leber hereditary optic neuropathy 9.5 CYCS MT-ND4 OPA1
39 optic nerve disease 9.1 MFN1 MFN2 MT-ND4 OPA1
40 optic atrophy 1 9.1 CYCS MFN1 MFN2 OPA1

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:

57
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
lower limb spasticity
spastic gait
more
Skeletal Feet:
pes cavus

Abdomen Gastrointestinal:
dysphagia (rare)


Clinical features from OMIM:

607259

Human phenotypes related to Spastic Paraplegia 7, Autosomal Recessive:

59 32 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
2 dysarthria 59 32 occasional (7.5%) Occasional (29-5%) HP:0001260
3 dysphagia 59 32 very rare (1%) Very rare (<4-1%) HP:0002015
4 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
5 optic atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0000648
6 attention deficit hyperactivity disorder 59 32 frequent (33%) Frequent (79-30%) HP:0007018
7 specific learning disability 59 32 very rare (1%) Very rare (<4-1%) HP:0001328
8 babinski sign 59 32 frequent (33%) Frequent (79-30%) HP:0003487
9 pes cavus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001761
10 cerebral cortical atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002120
11 memory impairment 59 32 very rare (1%) Very rare (<4-1%) HP:0002354
12 ragged-red muscle fibers 59 32 frequent (33%) Frequent (79-30%) HP:0003200
13 nasal speech 59 32 frequent (33%) Frequent (79-30%) HP:0001611
14 cerebellar atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0001272
15 impaired vibration sensation in the lower limbs 59 32 frequent (33%) Frequent (79-30%) HP:0002166
16 lower limb pain 59 32 very rare (1%) Very rare (<4-1%) HP:0012514
17 spastic gait 59 32 hallmark (90%) Very frequent (99-80%) HP:0002064
18 lower limb hypertonia 59 32 frequent (33%) Frequent (79-30%) HP:0006895
19 optic disc pallor 59 32 occasional (7.5%) Occasional (29-5%) HP:0000543
20 lower limb muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0007340
21 supranuclear gaze palsy 59 32 frequent (33%) Frequent (79-30%) HP:0000605
22 upper limb muscle weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0003484
23 abnormal mitochondrial morphology 59 32 frequent (33%) Frequent (79-30%) HP:0008322
24 lower limb hyperreflexia 59 32 frequent (33%) Frequent (79-30%) HP:0002395
25 abnormality of the cerebral white matter 59 32 occasional (7.5%) Occasional (29-5%) HP:0002500
26 urinary urgency 59 32 frequent (33%) Frequent (79-30%) HP:0000012
27 slowed slurred speech 59 32 frequent (33%) Frequent (79-30%) HP:0007164
28 hyperreflexia 32 HP:0001347
29 abnormal pyramidal signs 59 Frequent (79-30%)
30 gait ataxia 32 HP:0002066
31 urinary bladder sphincter dysfunction 32 HP:0002839
32 spastic paraplegia 32 HP:0001258
33 lower limb spasticity 32 HP:0002061
34 degeneration of the lateral corticospinal tracts 32 HP:0002314
35 urinary incontinence 32 HP:0000020
36 abnormality of higher mental function 59 Frequent (79-30%)
37 sensory impairment 59 Frequent (79-30%)

UMLS symptoms related to Spastic Paraplegia 7, Autosomal Recessive:


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

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.91 AFG3L2 CYCS MFN1 MFN2 OPA1 PARL
2 growth/size/body region MP:0005378 9.91 AFG3L2 CYCS MFN1 MFN2 OPA1 PARL
3 embryo MP:0005380 9.8 MFN1 MFN2 OPA1 RHBDL1 AFG3L2 CYCS
4 mortality/aging MP:0010768 9.76 AFG3L2 CYCS MFN1 MFN2 OPA1 PARL
5 muscle MP:0005369 9.35 PARL YME1L1 AFG3L2 MFN2 OPA1
6 nervous system MP:0003631 9.17 AFG3L2 CYCS MFN1 MFN2 OPA1 PARL

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 29 SPG7

Anatomical Context for Spastic Paraplegia 7, Autosomal Recessive

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

41
Brain, Spinal Cord, Eye

Publications for Spastic Paraplegia 7, Autosomal Recessive

Articles related to Spastic Paraplegia 7, Autosomal Recessive:

# Title Authors Year
1
The MicroRNA-224 Inhibitor Prevents Neuronal Apoptosis via Targeting Spastic Paraplegia 7 After Cerebral Ischemia. ( 27165196 )
2016
2
Predominant cerebellar phenotype in spastic paraplegia 7 (SPG7). ( 27081526 )
2015
3
Spastic Paraplegia 7 ( 20301286 )
1993

Variations for Spastic Paraplegia 7, Autosomal Recessive

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

75
# 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 140)
# Gene Variation Type Significance SNP ID Assembly Location
1 SPG7 SPG7, 2-BP DEL, NT784 deletion Pathogenic
2 SPG7 SPG7, 1-BP INS, 2228A insertion Pathogenic
3 SPG7 SPG7, 9.5-KB DEL deletion Pathogenic
4 SPG7 SPG7, 2-BP DEL, 1-BP INS, 850 indel Pathogenic
5 SPG7 SPG7, 3-BP DEL, 1742TGG deletion Pathogenic
6 SPG7 NM_003119.3(SPG7): c.2075G> C (p.Ser692Thr) single nucleotide variant Pathogenic rs121918357 GRCh37 Chromosome 16, 89620340: 89620340
7 SPG7 NM_003119.3(SPG7): c.2075G> C (p.Ser692Thr) single nucleotide variant Pathogenic rs121918357 GRCh38 Chromosome 16, 89553932: 89553932
8 SPG7 NM_003119.3(SPG7): c.233T> A (p.Leu78Ter) single nucleotide variant Pathogenic rs121918358 GRCh37 Chromosome 16, 89576947: 89576947
9 SPG7 NM_003119.3(SPG7): c.233T> A (p.Leu78Ter) single nucleotide variant Pathogenic rs121918358 GRCh38 Chromosome 16, 89510539: 89510539
10 SPG7 SPG7, 1-BP DEL, 1616C deletion Pathogenic
11 SPG7 SPG7, 5.1-KB DEL deletion Pathogenic
12 SPG7 NM_003119.3(SPG7): c.1045G> A (p.Gly349Ser) single nucleotide variant Pathogenic/Likely pathogenic rs141659620 GRCh37 Chromosome 16, 89598369: 89598369
13 SPG7 NM_003119.3(SPG7): c.1045G> A (p.Gly349Ser) single nucleotide variant Pathogenic/Likely pathogenic rs141659620 GRCh38 Chromosome 16, 89531961: 89531961
14 SPG7 NM_003119.3(SPG7): c.1749G> C (p.Trp583Cys) single nucleotide variant Pathogenic rs267607085 GRCh37 Chromosome 16, 89616987: 89616987
15 SPG7 NM_003119.3(SPG7): c.1749G> C (p.Trp583Cys) single nucleotide variant Pathogenic rs267607085 GRCh38 Chromosome 16, 89550579: 89550579
16 SPG7 NM_003119.3(SPG7): c.1529C> T (p.Ala510Val) single nucleotide variant Pathogenic/Likely pathogenic rs61755320 GRCh37 Chromosome 16, 89613145: 89613145
17 SPG7 NM_003119.3(SPG7): c.1529C> T (p.Ala510Val) single nucleotide variant Pathogenic/Likely pathogenic rs61755320 GRCh38 Chromosome 16, 89546737: 89546737
18 SPG7 NM_003119.3(SPG7): c.1672A> T (p.Lys558Ter) single nucleotide variant Pathogenic rs369227537 GRCh38 Chromosome 16, 89550502: 89550502
19 SPG7 NM_003119.3(SPG7): c.1672A> T (p.Lys558Ter) single nucleotide variant Pathogenic rs369227537 GRCh37 Chromosome 16, 89616910: 89616910
20 SPG7 NM_003119.3(SPG7): c.1A> G (p.Met1Val) single nucleotide variant Likely pathogenic rs794726906 GRCh37 Chromosome 16, 89574826: 89574826
21 SPG7 NM_003119.3(SPG7): c.1A> G (p.Met1Val) single nucleotide variant Likely pathogenic rs794726906 GRCh38 Chromosome 16, 89508418: 89508418
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.861dupT (p.Asn288Terfs) duplication Pathogenic rs797046003 GRCh38 Chromosome 16, 89529579: 89529579
24 SPG7 NM_003119.3(SPG7): c.413A> C (p.Tyr138Ser) single nucleotide variant Uncertain significance rs377268309 GRCh37 Chromosome 16, 89590450: 89590450
25 SPG7 NM_003119.3(SPG7): c.413A> C (p.Tyr138Ser) single nucleotide variant Uncertain significance rs377268309 GRCh38 Chromosome 16, 89524042: 89524042
26 SPG7 NM_003119.3(SPG7): c.584A> G (p.Tyr195Cys) single nucleotide variant Uncertain significance rs145776296 GRCh37 Chromosome 16, 89590621: 89590621
27 SPG7 NM_003119.3(SPG7): c.584A> G (p.Tyr195Cys) single nucleotide variant Uncertain significance rs145776296 GRCh38 Chromosome 16, 89524213: 89524213
28 SPG7 NM_003119.3(SPG7): c.1653C> T (p.Arg551=) single nucleotide variant Benign rs56031686 GRCh38 Chromosome 16, 89548103: 89548103
29 SPG7 NM_003119.3(SPG7): c.1653C> T (p.Arg551=) single nucleotide variant Benign rs56031686 GRCh37 Chromosome 16, 89614511: 89614511
30 SPG7 NM_003119.3(SPG7): c.1933T> A (p.Ser645Thr) single nucleotide variant Uncertain significance rs2099104 GRCh37 Chromosome 16, 89619540: 89619540
31 SPG7 NM_003119.3(SPG7): c.1933T> A (p.Ser645Thr) single nucleotide variant Uncertain significance rs2099104 GRCh38 Chromosome 16, 89553132: 89553132
32 SPG7 NM_003119.3(SPG7): c.2188A> G (p.Asn730Asp) single nucleotide variant Benign/Likely benign rs35749032 GRCh38 Chromosome 16, 89556893: 89556893
33 SPG7 NM_003119.3(SPG7): c.2188A> G (p.Asn730Asp) single nucleotide variant Benign/Likely benign rs35749032 GRCh37 Chromosome 16, 89623301: 89623301
34 SPG7 NM_003119.3(SPG7): c.2228T> C (p.Ile743Thr) single nucleotide variant Pathogenic/Likely pathogenic rs752623413 GRCh37 Chromosome 16, 89623341: 89623341
35 SPG7 NM_003119.3(SPG7): c.2228T> C (p.Ile743Thr) single nucleotide variant Pathogenic/Likely pathogenic rs752623413 GRCh38 Chromosome 16, 89556933: 89556933
36 SPG7 NM_003119.3(SPG7): c.2275G> A (p.Ala759Thr) single nucleotide variant Uncertain significance rs140769107 GRCh37 Chromosome 16, 89623388: 89623388
37 SPG7 NM_003119.3(SPG7): c.2275G> A (p.Ala759Thr) single nucleotide variant Uncertain significance rs140769107 GRCh38 Chromosome 16, 89556980: 89556980
38 SPG7 NM_003119.3(SPG7): c.1996G> C (p.Gly666Arg) single nucleotide variant Uncertain significance rs752989523 GRCh38 Chromosome 16, 89553853: 89553853
39 SPG7 NG_008082.1: g.20862_20919del58 deletion Benign/Likely benign GRCh38 Chromosome 16, 89524258: 89524315
40 SPG7 NG_008082.1: g.20862_20919del58 deletion Benign/Likely benign GRCh37 Chromosome 16, 89590666: 89590723
41 SPG7 NM_003119.3(SPG7): c.1408C> T (p.Arg470Ter) single nucleotide variant Pathogenic rs748555510 GRCh37 Chromosome 16, 89611139: 89611139
42 SPG7 NM_003119.3(SPG7): c.1408C> T (p.Arg470Ter) single nucleotide variant Pathogenic rs748555510 GRCh38 Chromosome 16, 89544731: 89544731
43 SPG7 NM_003119.3(SPG7): c.1996G> C (p.Gly666Arg) single nucleotide variant Uncertain significance rs752989523 GRCh37 Chromosome 16, 89620261: 89620261
44 SPG7 NM_003119.3(SPG7): c.1729G> A (p.Gly577Ser) single nucleotide variant Likely pathogenic rs72547552 GRCh38 Chromosome 16, 89550559: 89550559
45 SPG7 NM_003119.3(SPG7): c.1729G> A (p.Gly577Ser) single nucleotide variant Likely pathogenic rs72547552 GRCh37 Chromosome 16, 89616967: 89616967
46 SPG7 NM_003119.3(SPG7): c.2120delTinsCCAAGTCTGTA (p.Val707Alafs) indel no interpretation for the single variant rs863224924 GRCh38 Chromosome 16, 89554502: 89554502
47 SPG7 NM_003119.3(SPG7): c.2120delTinsCCAAGTCTGTA (p.Val707Alafs) indel no interpretation for the single variant rs863224924 GRCh37 Chromosome 16, 89620910: 89620910
48 SPG7 NM_003119.3(SPG7): c.473_474delTC (p.Leu158Glnfs) deletion Pathogenic rs879253798 GRCh37 Chromosome 16, 89590510: 89590511
49 SPG7 NM_003119.3(SPG7): c.473_474delTC (p.Leu158Glnfs) deletion Pathogenic rs879253798 GRCh38 Chromosome 16, 89524102: 89524103
50 SPG7 NM_003119.3(SPG7): c.988-1G> A single nucleotide variant Pathogenic rs748309520 GRCh37 Chromosome 16, 89598311: 89598311

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 11.62 MFN1 MFN2 OPA1
2 10.97 MFN1 MFN2
3
Show member pathways
10.29 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 integral component of membrane GO:0016021 9.97 AFG3L2 MFN1 MFN2 MT-ND4 OPA1 PARL
2 mitochondrion GO:0005739 9.61 AFG3L2 CYCS MFN1 MFN2 MT-ND4 OPA1
3 mitochondrial outer membrane GO:0005741 9.54 MFN1 MFN2 OPA1
4 respiratory chain GO:0070469 9.43 CYCS MT-ND4
5 axon cytoplasm GO:1904115 9.4 OPA1 SPG7
6 m-AAA complex GO:0005745 9.26 AFG3L2 SPG7
7 mitochondrial inner membrane GO:0005743 9.17 AFG3L2 CYCS MT-ND4 OPA1 PARL SPG7
8 intrinsic component of mitochondrial outer membrane GO:0031306 9.16 MFN1 MFN2

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

# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.77 AFG3L2 PARL RHBDL1 SPG7 YME1L1
2 mitochondrion organization GO:0007005 9.55 AFG3L2 CYCS OPA1 SPG7 YME1L1
3 GTP metabolic process GO:0046039 9.43 MFN1 OPA1
4 calcium import into the mitochondrion GO:0036444 9.4 AFG3L2 OPA1
5 mitochondrion localization GO:0051646 9.32 MFN1 MFN2
6 mitochondrial protein processing GO:0034982 9.26 AFG3L2 YME1L1
7 mitochondrial calcium ion transmembrane transport GO:0006851 9.26 AFG3L2 PARL SPG7 YME1L1
8 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 GTPase activity GO:0003924 9.5 MFN1 MFN2 OPA1
2 metallopeptidase activity GO:0008237 9.43 AFG3L2 SPG7 YME1L1
3 peptidase activity GO:0008233 9.35 AFG3L2 PARL RHBDL1 SPG7 YME1L1
4 metalloendopeptidase activity GO:0004222 9.33 AFG3L2 SPG7 YME1L1
5 hydrolase activity GO:0016787 9.23 AFG3L2 MFN1 MFN2 OPA1 PARL RHBDL1

Sources for Spastic Paraplegia 7, 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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