SPG7
MCID: SPS128
MIFTS: 58

Spastic Paraplegia 7, Autosomal Recessive (SPG7)

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 7, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 7, Autosomal Recessive:

Name: Spastic Paraplegia 7, Autosomal Recessive 57 73 13 71
Spg7 57 12 20 58 73
Hereditary Spastic Paraplegia 7 12 29 6 15
Spastic Paraplegia Type 7 12 43 58 71
Spastic Paraplegia 7 25 20 43
Hereditary Spastic Paraplegia, Paraplegin Type 25 43
Autosomal Recessive Hereditary Spastic Paraplegia 71
Paraplegia, Spastic, Autosomal Recessive, Type 7 39
Hereditary Spastic Paraplegia Paraplegin Type 20
Autosomal Recessive Spastic Paraplegia 7 12
Spastic Paraplegia, Hereditary 71

Characteristics:

Orphanet epidemiological data:

58
spastic paraplegia type 7
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages;

OMIM®:

57 (Updated 05-Mar-2021)
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:
Inheritance autosomal dominant inheritance autosomal recessive inheritance
Onset and clinical course adult onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Inborn errors of metabolism


Summaries for Spastic Paraplegia 7, Autosomal Recessive

MedlinePlus Genetics : 43 Spastic paraplegia type 7 (also called SPG7) is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) in the legs and difficulty walking. Hereditary spastic paraplegias are divided into two types: pure and complex. The pure types generally involve only spasticity of the lower limbs and walking difficulties. The complex types involve more widespread problems with the nervous system; 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). In complex forms, there can also be features outside of the nervous system. Spastic paraplegia type 7 can occur in either the pure or complex form.Like all hereditary spastic paraplegias, spastic paraplegia type 7 involves spasticity of the leg muscles and some muscle weakness. People with this form of spastic paraplegia can also have ataxia; a pattern of movement abnormalities known as parkinsonism; exaggerated reflexes (hyperreflexia) in the arms; speech difficulties (dysarthria); difficulty swallowing (dysphagia); involuntary movements of the eyes (nystagmus); mild hearing loss; abnormal curvature of the spine (scoliosis); high-arched feet (pes cavus); numbness, tingling, or pain in the arms and legs (sensory neuropathy); disturbance in the nerves used for muscle movement (motor neuropathy); and muscle wasting (amyotrophy). The onset of symptoms varies greatly among those with spastic paraplegia type 7; however, abnormalities in muscle tone and other features usually become noticeable in adulthood.

MalaCards based summary : Spastic Paraplegia 7, Autosomal Recessive, also known as spg7, is related to spastic paraplegia 20, autosomal recessive and optic atrophy 9, and has symptoms including gait ataxia, urgency of micturition and pain in lower limb. An important gene associated with Spastic Paraplegia 7, Autosomal Recessive is SPG7 (SPG7 Matrix AAA Peptidase Subunit, Paraplegin), and among its related pathways/superpathways is Spinocerebellar ataxia. The drugs Acetylcholine and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, spinal cord and brain, and related phenotypes are spastic gait and nystagmus

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.

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 99013DefinitionA form of hereditary spastic paraplegia 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.

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) (Updated 05-Mar-2021)

UniProtKB/Swiss-Prot : 73 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, 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 7, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 155)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 20, autosomal recessive 31.6 SPG7 PNPLA6
2 optic atrophy 9 31.6 SPG7 AFG3L2
3 behr syndrome 31.5 SPG7 OPA1
4 chronic progressive external ophthalmoplegia 31.4 SPG7 COQ8A AFG3L2
5 spinocerebellar ataxia, autosomal recessive 24 31.4 SPG7 PNPLA6
6 proximal spinal muscular atrophy 31.4 SPG7 SETX
7 3-methylglutaconic aciduria, type iii 31.4 SPG7 PARL OPA1 AFG3L2
8 optic atrophy 5 31.4 SPG7 OPA1 AFG3L2
9 spastic paraparesis 31.3 SPG7 SPG11 AFG3L2
10 early myoclonic encephalopathy 31.2 SPG7 KCNC3 AFG3L2
11 complex hereditary spastic paraplegia 31.2 SPG7 SPG11
12 spastic paraplegia 16, x-linked 31.2 SPG7 SPG11
13 hereditary spastic paraplegia 72 31.2 SPG7 SPG11
14 hereditary spastic paraplegia 30 31.2 SPG7 SPG11
15 spastic paraplegia 32, autosomal recessive 31.2 SPG7 SPG11
16 hereditary spastic paraplegia 51 31.2 SPG7 SPG11
17 spastic paraplegia 14, autosomal recessive 31.2 SPG7 SPG11
18 spastic ataxia 5 31.2 YME1L1 SPG7 PARL AFG3L2
19 spinocerebellar ataxia, autosomal recessive 14 31.2 SPG7 COQ8A AFG3L2
20 spastic paraplegia 50, autosomal recessive 31.1 SPG7 SPG11
21 spastic paraplegia 63, autosomal recessive 31.1 SPG7 SPG11
22 spastic paraplegia 49, autosomal recessive 31.1 SPG7 SPG11
23 perrault syndrome 31.1 YME1L1 SPG7 PARL AFG3L2
24 spastic paraplegia 5a, autosomal recessive 31.1 SPG7 SPG11
25 leber hereditary optic neuropathy, modifier of 31.1 SPG7 PARL OPA1
26 spastic paraplegia 18, autosomal recessive 31.1 SPG7 SPG11
27 optic atrophy 1 31.1 YME1L1 SPG7 PARL OPA1
28 spastic paraplegia 55, autosomal recessive 31.1 SPG7 SPG11
29 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 31.1 SPG7 COQ8A AFG3L2
30 spastic paraplegia 11, autosomal recessive 31.1 SPG7 SPG11
31 kearns-sayre syndrome 31.1 SPG7 COQ8A APTX AFG3L2
32 spastic paraplegia 56, autosomal recessive 31.1 SPG7 SPG11
33 spastic paraplegia 26, autosomal recessive 31.1 SPG7 SPG11
34 spastic paraplegia 48, autosomal recessive 31.1 SPG7 SPG11
35 cranial nerve disease 31.1 YME1L1 SPG7 PARL OPA1
36 spastic paraplegia 6, autosomal dominant 31.1 SPG7 SPG11
37 spastic paraplegia 31, autosomal dominant 31.0 SPG7 SPG11
38 spastic paraplegia 13, autosomal dominant 31.0 SPG7 SPG11
39 spastic paraplegia 15, autosomal recessive 31.0 SPG7 SPG11
40 spastic paraplegia 47, autosomal recessive 31.0 SPG7 SPG11
41 spastic paraplegia 8, autosomal dominant 31.0 SPG7 SPG11
42 spastic paraplegia 10, autosomal dominant 31.0 SPG7 SPG11
43 optic nerve disease 30.9 YME1L1 SPG7 PARL OPA1 AFG3L2
44 spastic paraplegia 4, autosomal dominant 30.9 SPG7 SPG11 PNPLA6
45 spastic paraplegia 28, autosomal recessive 30.8 SPG7 SPG11 PNPLA6
46 spastic paraplegia 54, autosomal recessive 30.8 SPG7 SPG11 PNPLA6
47 spastic paraplegia 46, autosomal recessive 30.8 SPG7 SPG11 PNPLA6
48 spastic paraplegia 39, autosomal recessive 30.8 SPG7 SPG11 PNPLA6
49 spastic paraplegia 42, autosomal dominant 30.8 SPG7 SPG11 PNPLA6
50 spastic paraplegia 35, autosomal recessive 30.8 SPG7 SPG11 PNPLA6

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

Human phenotypes related to Spastic Paraplegia 7, Autosomal Recessive:

58 31 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 spastic gait 58 31 very rare (1%) Very frequent (99-80%) HP:0002064
2 nystagmus 58 31 very rare (1%) Frequent (79-30%) HP:0000639
3 optic atrophy 58 31 very rare (1%) Frequent (79-30%) HP:0000648
4 attention deficit hyperactivity disorder 58 31 frequent (33%) Frequent (79-30%) HP:0007018
5 ragged-red muscle fibers 58 31 frequent (33%) Frequent (79-30%) HP:0003200
6 nasal speech 58 31 frequent (33%) Frequent (79-30%) HP:0001611
7 babinski sign 58 31 very rare (1%) Frequent (79-30%) HP:0003487
8 cerebellar atrophy 58 31 very rare (1%) Frequent (79-30%) HP:0001272
9 abnormal mitochondrial morphology 58 31 frequent (33%) Frequent (79-30%) HP:0008322
10 urinary urgency 58 31 frequent (33%) Frequent (79-30%) HP:0000012
11 lower limb muscle weakness 58 31 very rare (1%) Frequent (79-30%) HP:0007340
12 slowed slurred speech 58 31 frequent (33%) Frequent (79-30%) HP:0007164
13 impaired vibration sensation in the lower limbs 58 31 very rare (1%) Frequent (79-30%) HP:0002166
14 supranuclear gaze palsy 58 31 frequent (33%) Frequent (79-30%) HP:0000605
15 lower limb hyperreflexia 58 31 frequent (33%) Frequent (79-30%) HP:0002395
16 lower limb hypertonia 58 31 very rare (1%) Frequent (79-30%) HP:0006895
17 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
18 dysarthria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001260
19 cerebral cortical atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002120
20 pes cavus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001761
21 optic disc pallor 58 31 occasional (7.5%) Occasional (29-5%) HP:0000543
22 abnormality of the cerebral white matter 58 31 occasional (7.5%) Occasional (29-5%) HP:0002500
23 upper limb muscle weakness 58 31 very rare (1%) Occasional (29-5%) HP:0003484
24 dysphagia 58 31 very rare (1%) Very rare (<4-1%) HP:0002015
25 specific learning disability 58 31 very rare (1%) Very rare (<4-1%) HP:0001328
26 memory impairment 58 31 very rare (1%) Very rare (<4-1%) HP:0002354
27 lower limb pain 58 31 very rare (1%) Very rare (<4-1%) HP:0012514
28 hearing impairment 31 very rare (1%) HP:0000365
29 slurred speech 31 very rare (1%) HP:0001350
30 waddling gait 31 very rare (1%) HP:0002515
31 muscle stiffness 31 very rare (1%) HP:0003552
32 dysmetria 31 very rare (1%) HP:0001310
33 dysdiadochokinesis 31 very rare (1%) HP:0002075
34 vertical supranuclear gaze palsy 31 very rare (1%) HP:0000511
35 spastic ataxia 31 very rare (1%) HP:0002497
36 postural instability 31 very rare (1%) HP:0002172
37 upper limb hypertonia 31 very rare (1%) HP:0200049
38 hyperreflexia 31 HP:0001347
39 abnormal pyramidal sign 58 Frequent (79-30%)
40 spastic paraplegia 31 HP:0001258
41 gait ataxia 31 HP:0002066
42 sensory impairment 58 Frequent (79-30%)
43 abnormality of higher mental function 58 Frequent (79-30%)
44 lower limb spasticity 31 HP:0002061
45 urinary incontinence 31 HP:0000020
46 urinary bladder sphincter dysfunction 31 HP:0002839
47 degeneration of the lateral corticospinal tracts 31 HP:0002314

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
hyperreflexia
dysarthria
cerebellar atrophy
lower limb spasticity
spastic gait
more
Head And Neck Eyes:
nystagmus
optic atrophy
supranuclear palsy

Genitourinary Bladder:
urinary incontinence
urinary urgency
sphincter disturbances

Skeletal Spine:
scoliosis

Skeletal Feet:
pes cavus

Abdomen Gastrointestinal:
dysphagia (rare)

Clinical features from OMIM®:

607259 (Updated 05-Mar-2021)

UMLS symptoms related to Spastic Paraplegia 7, Autosomal Recessive:


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

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.81 AFG3L2 COQ8A KCNC3 OPA1 PARL PNPLA6
2 cellular MP:0005384 9.56 AFG3L2 APTX OPA1 PARL PNPLA6 SETX
3 muscle MP:0005369 9.1 AFG3L2 COQ8A KCNC3 OPA1 PARL YME1L1

Drugs & Therapeutics for Spastic Paraplegia 7, Autosomal Recessive

Drugs for Spastic Paraplegia 7, Autosomal Recessive (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 29)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved, Investigational Phase 2, Phase 3 51-84-3 187
2 Neurotransmitter Agents Phase 2, Phase 3
3 Cholinergic Agents Phase 2, Phase 3
4 Botulinum Toxins Phase 2, Phase 3
5
Atorvastatin Approved Phase 2 134523-00-5 60823
6
chenodeoxycholic acid Approved Phase 2 474-25-9 10133
7
Evolocumab Approved Phase 1, Phase 2 1256937-27-5
8
Resveratrol Investigational Phase 2 501-36-0 445154
9 Protective Agents Phase 2
10 Anti-Inflammatory Agents Phase 2
11 Cathartics Phase 2
12 Antioxidants Phase 2
13 Gastrointestinal Agents Phase 2
14 Analgesics, Non-Narcotic Phase 2
15 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
16 Anti-Inflammatory Agents, Non-Steroidal Phase 2
17 Platelet Aggregation Inhibitors Phase 2
18 Antirheumatic Agents Phase 2
19 Analgesics Phase 2
20 Laxatives Phase 2
21 Hypolipidemic Agents Phase 1, Phase 2
22 Antimetabolites Phase 1, Phase 2
23 Lipid Regulating Agents Phase 1, Phase 2
24 Anticholesteremic Agents Phase 1, Phase 2
25
Idebenone Approved, Investigational 58186-27-9
26
Aspartic acid Approved, Nutraceutical 56-84-8 5960
27
Creatine Approved, Investigational, Nutraceutical 57-00-1 586
28
Choline Approved, Nutraceutical 62-49-7 305
29 N-Methylaspartate

Interventional clinical trials:

(show all 15)
# Name Status NCT ID Phase Drugs
1 Botulinum Toxin in Patients With Hereditary Spastic Paraplegia: a Randomized, Double-blind, Placebo-controlled, Crossover Study Completed NCT02604186 Phase 2, Phase 3
2 Therapeutic Metabolic Intervention in Patients With Spastic Paraplegia SPG5 Completed NCT02314208 Phase 2 Xenbilox;Tahor
3 Design and Validation of a Modular Physiotherapy Concept for the Treatment of Hereditary Spastic Spinal Paralysis (HSP) - a Randomized Study Completed NCT03961906 Phase 2
4 PCSK9 Inhibitor Treatment for Patients With Hereditary Spastic Paraplegia Type 5 Recruiting NCT04101643 Phase 1, Phase 2 evolocumab
5 A Patient Centric Motor Neuron Disease Activities of Daily Living Scale Completed NCT02852278
6 Nuclear Magnetic Spectroscopy for the Evaluation of Primary Lateral Sclerosis, Hereditary Spastic Paraplegia and Amyotrophic Lateral Sclerosis Completed NCT00023075
7 A Pilot Study of Repetitive Transcranial Magnetic Stimulation for Improvement of Gait in Hereditary Spastic Paraplegia and Adrenomyeloneuropathy Completed NCT03627416
8 Studying Cognition in SPG4 Compared to Healthy Controls Completed NCT03104088
9 Phenotypes, Biomarkers and Pathophysiology in Hereditary Spastic Paraplegias and Related Disorders Recruiting NCT03981276
10 Studying the Presymptomatic and Early Phase of SPG4 Recruiting NCT03206190
11 Registry and Natural History Study for AP-4 Associated Hereditary Spastic Paraplegia (AP-4-HSP) Recruiting NCT04712812
12 Clinical and Molecular Manifestations of Neuromuscular and Neurogenetic Disorders of Childhood Recruiting NCT01568658
13 Improving Gait Adaptability in Hereditary Spastic Paraplegia During Task-specific Training on the C-Mill: Towards Evidence-Based and Individually Tailored Rehabilitation Recruiting NCT04180098
14 Phenotype, Genotype & Biomarkers in ALS and Related Disorders Recruiting NCT02327845
15 Disease Natural History and Biomarkers of SPG3A, SPG4 and SPG31 Terminated NCT02859428

Search 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 Hereditary Spastic Paraplegia 7 29 SPG7

Anatomical Context for Spastic Paraplegia 7, Autosomal Recessive

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

40
Eye, Spinal Cord, Brain, Prostate, Endothelial

Publications for Spastic Paraplegia 7, Autosomal Recessive

Articles related to Spastic Paraplegia 7, Autosomal Recessive:

(show top 50) (show all 182)
# Title Authors PMID Year
1
SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V. 61 6 57 25
22571692 2013
2
A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia. 57 25 61 6
18200586 2008
3
Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia. 6 57 25 61
16534102 2006
4
A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3. 57 25 6
9634528 1998
5
Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. 6 57 25
9635427 1998
6
A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation. 6 57 61
17646629 2007
7
Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes. 57 25
18799786 2008
8
Functional evaluation of paraplegin mutations by a yeast complementation assay. 6 61
20186691 2010
9
Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways. 61 25
28195350 2017
10
SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. 25 61
26626314 2016
11
The MicroRNA-224 Inhibitor Prevents Neuronal Apoptosis via Targeting Spastic Paraplegia 7 After Cerebral Ischemia. 25 61
27165196 2016
12
Compound heterozygote mutations in SPG7 in a family with adult-onset primary lateral sclerosis. 61 25
27123479 2016
13
Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS Cohort. 25 61
27790088 2016
14
SPG7 Is an Essential and Conserved Component of the Mitochondrial Permeability Transition Pore. 25 61
26387735 2015
15
SPG7 mutations are a common cause of undiagnosed ataxia. 61 25
25681447 2015
16
Predominant cerebellar phenotype in spastic paraplegia 7 (SPG7). 61 25
27081526 2015
17
SPG7 variant escapes phosphorylation-regulated processing by AFG3L2, elevates mitochondrial ROS, and is associated with multiple clinical phenotypes. 25 61
24767997 2014
18
Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance. 25 61
24727571 2014
19
Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions. 61 25
24466038 2014
20
Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy. 61 25
23065789 2012
21
Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort. 25 61
22964162 2012
22
A novel splice site mutation in the SPG7 gene causing widespread fiber damage in homozygous and heterozygous subjects. 25 61
20108356 2010
23
Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene. 61 25
18563470 2008
24
A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia. 25 61
14985266 2004
25
The dosage and administration of long-term intrathecal baclofen therapy for severe spasticity of spinal origin. 25
29895878 2018
26
The m-AAA Protease Associated with Neurodegeneration Limits MCU Activity in Mitochondria. 25
27642048 2016
27
Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome. 25
26385635 2015
28
Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28. 25
20208537 2010
29
Autocatalytic processing of m-AAA protease subunits in mitochondria. 25
19656850 2009
30
MR imaging findings in autosomal recessive hereditary spastic paraplegia. 25
19193756 2009
31
Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms. 25
19007737 2008
32
The mitochondrial protease AFG3L2 is essential for axonal development. 25
18337413 2008
33
The Spastic Paraplegia Rating Scale (SPRS): a reliable and valid measure of disease severity. 25
16894103 2006
34
Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. 25
16437557 2006
35
Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia. 25
14623864 2003
36
The hereditary spastic paraplegias: nine genes and counting. 25
12925358 2003
37
Transcranial magnetic stimulation study in hereditary spastic paraparesis. 25
12736541 2003
38
Hereditary spastic paraplegia. 25
12432827 2002
39
Increased intracortical facilitation in patients with autosomal dominant pure spastic paraplegia linked to chromosome 2p. 25
11422430 2001
40
Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England. 25
11222789 2001
41
Brain Damage and Gene Expression Across Hereditary Spastic Paraplegia Subtypes. 61
33576112 2021
42
Inherited Cerebellar Ataxias: 5-Year Experience of the Irish National Ataxia Clinic. 61
32816195 2021
43
Evidence for Non-Mendelian Inheritance in Spastic Paraplegia 7. 61
33598982 2021
44
Vestibulo-ocular reflex impairment in SPG7 hereditary spastic paraplegia. 61
33248435 2021
45
Spinal Cord Gray and White Matter Damage in Different Hereditary Spastic Paraplegia Subtypes. 61
33478946 2021
46
''Eye of tiger sign" mimic in patients with spastic paraplegia gene 7 (SPG7) mutations. 61
33157434 2020
47
Novel homozygous SPG7 missense mutation in a Chinese hereditary spastic paraplegia family. 61
32002796 2020
48
Engineering Grey Nanosystem as Activatable Ratio-colorimetric Probe for Detection of Lead Ions in Preserved Egg. 61
32713898 2020
49
A Spanish family with a compound heterozygous mutation in SPG7: From uncertainty to clinical reality. 61
32204931 2020
50
Impaired flickering of the permeability transition pore causes SPG7 spastic paraplegia. 61
33045469 2020

Variations for Spastic Paraplegia 7, Autosomal Recessive

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

6 (show top 50) (show all 222)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SPG7 SPG7, 2-BP DEL, NT784 Deletion Pathogenic 6810
2 SPG7 SPG7, 1-BP INS, 2228A Insertion Pathogenic 6811
3 SPG7 SPG7, 9.5-KB DEL Deletion Pathogenic 6812
4 SPG7 SPG7, 2-BP DEL, 1-BP INS, 850 Indel Pathogenic 6813
5 SPG7 NM_003119.4(SPG7):c.1739_1741TGG[1] (p.Val581del) Microsatellite Pathogenic 6814 rs1597661607 16:89616977-89616979 16:89550569-89550571
6 SPG7 NM_003119.4(SPG7):c.2075G>C (p.Ser692Thr) SNV Pathogenic 6815 rs121918357 16:89620340-89620340 16:89553932-89553932
7 SPG7 NM_003119.4(SPG7):c.233T>A (p.Leu78Ter) SNV Pathogenic 6816 rs121918358 16:89576947-89576947 16:89510539-89510539
8 SPG7 SPG7, 1-BP DEL, 1616C Deletion Pathogenic 6817
9 SPG7 SPG7, 5.1-KB DEL Deletion Pathogenic 6818
10 SPG7 NM_003119.4(SPG7):c.1749G>C (p.Trp583Cys) SNV Pathogenic 6820 rs267607085 16:89616987-89616987 16:89550579-89550579
11 SPG7 NM_003119.4(SPG7):c.1672A>T (p.Lys558Ter) SNV Pathogenic 188276 rs369227537 16:89616910-89616910 16:89550502-89550502
12 SPG7 NM_003119.4(SPG7):c.861dup (p.Asn288Ter) Duplication Pathogenic 212294 rs797046003 16:89595983-89595984 16:89529575-89529576
13 SPG7 NM_003119.4(SPG7):c.1408C>T (p.Arg470Ter) SNV Pathogenic 216088 rs748555510 16:89611139-89611139 16:89544731-89544731
14 SPG7 NM_003119.4(SPG7):c.2084T>C (p.Leu695Pro) SNV Pathogenic 219448 rs864622094 16:89620349-89620349 16:89553941-89553941
15 SPG7 NM_003119.4(SPG7):c.1996G>A (p.Gly666Arg) SNV Pathogenic 217271 rs752989523 16:89620261-89620261 16:89553853-89553853
16 SPG7 NM_003119.4(SPG7):c.2249C>T (p.Pro750Leu) SNV Pathogenic 217268 rs879253797 16:89623362-89623362 16:89556954-89556954
17 SPG7 NM_003119.4(SPG7):c.471_472TC[1] (p.Leu158fs) Microsatellite Pathogenic 217272 rs879253798 16:89590507-89590508 16:89524099-89524100
18 SPG7 NM_003119.4(SPG7):c.988-1G>A SNV Pathogenic 217270 rs748309520 16:89598311-89598311 16:89531903-89531903
19 SPG7 NM_003119.4(SPG7):c.1045_1046delinsAGC (p.Gly349fs) Indel Pathogenic 411676 rs1060503425 16:89598369-89598370 16:89531961-89531962
20 SPG7 NM_003119.4(SPG7):c.2228T>C (p.Ile743Thr) SNV Pathogenic 215218 rs752623413 16:89623341-89623341 16:89556933-89556933
21 SPG7 NM_003119.4(SPG7):c.1937-2A>G SNV Pathogenic 465174 rs568556987 16:89620200-89620200 16:89553792-89553792
22 SPG7 NM_003119.4(SPG7):c.2115_2131del (p.Leu706fs) Deletion Pathogenic 465175 rs748255454 16:89620903-89620919 16:89554495-89554511
23 SPG7 NM_003119.4(SPG7):c.1049_1077del (p.Pro350fs) Deletion Pathogenic 495055 rs775364547 16:89598369-89598397 16:89531961-89531989
24 SPG7 NM_003119.4(SPG7):c.850_851delinsC (p.Phe284fs) Indel Pathogenic 533735 rs768595656 16:89595976-89595977 16:89529568-89529569
25 SPG7 NM_003119.4(SPG7):c.1675A>T (p.Lys559Ter) SNV Pathogenic 215215 rs372981030 16:89616913-89616913 16:89550505-89550505
26 SPG7 NM_003119.4(SPG7):c.1553-2A>G SNV Pathogenic 576145 rs1229749476 16:89614409-89614409 16:89548001-89548001
27 SPG7 NC_000016.10:g.(?_89529457)_(89529599_?)del Deletion Pathogenic 584118 16:89595865-89596007 16:89529457-89529599
28 SPG7 NM_003119.4(SPG7):c.86G>A (p.Trp29Ter) SNV Pathogenic 646516 rs1314660313 16:89574911-89574911 16:89508503-89508503
29 SPG7 NC_000016.10:g.(?_89508408)_(89508610_?)del Deletion Pathogenic 658452 16:89574816-89575018 16:89508408-89508610
30 SPG7 NM_003119.4(SPG7):c.771_772TG[1] (p.Val258fs) Microsatellite Pathogenic 504920 rs768136171 16:89595899-89595900 16:89529489-89529490
31 SPG7 NM_003119.4(SPG7):c.1552+1G>T SNV Pathogenic 807498 rs141644720 16:89613169-89613169 16:89546761-89546761
32 SPG7 NC_000016.10:g.(?_89510480)_(89513047_?)del Deletion Pathogenic 831061 16:89576888-89579455
33 SPG7 NM_003119.4(SPG7):c.1171_1172dup (p.Ser392fs) Duplication Pathogenic 857760 16:89598889-89598890 16:89532481-89532482
34 SPG7 NM_003119.4(SPG7):c.596del (p.Gly199fs) Deletion Pathogenic 958161 16:89590632-89590632 16:89524224-89524224
35 SPG7 NM_003119.4(SPG7):c.739C>T (p.Arg247Ter) SNV Pathogenic 949128 16:89592857-89592857 16:89526449-89526449
36 SPG7 NM_003119.4(SPG7):c.1996G>C (p.Gly666Arg) SNV Pathogenic 216571 rs752989523 16:89620261-89620261 16:89553853-89553853
37 SPG7 NM_003119.4(SPG7):c.1715C>T (p.Ala572Val) SNV Pathogenic 217269 rs72547551 16:89616953-89616953 16:89550545-89550545
38 SPG7 NM_003119.4(SPG7):c.1053dup (p.Gly352fs) Duplication Pathogenic 411675 rs760818649 16:89598370-89598371 16:89531962-89531963
39 SPG7 NM_003119.4(SPG7):c.934dup (p.Ala312fs) Duplication Pathogenic 933586 16:89597161-89597162 16:89530753-89530754
40 SPG7 NM_003119.4(SPG7):c.1626_1627TC[1] (p.Leu543fs) Microsatellite Pathogenic 411677 rs766155407 16:89614483-89614484 16:89548075-89548076
41 SPG7 NM_003119.3(SPG7):c.1553-?_1779+?del Deletion Pathogenic 254070
42 SPG7 NM_003119.4(SPG7):c.2271del (p.Met757fs) Deletion Pathogenic/Likely pathogenic 522825 rs1217391623 16:89623384-89623384 16:89556976-89556976
43 SPG7 NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) SNV Pathogenic/Likely pathogenic 42016 rs61755320 16:89613145-89613145 16:89546737-89546737
44 SPG7 NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del) Deletion Pathogenic/Likely pathogenic 411680 rs768823392 16:89613065-89613073 16:89546657-89546665
45 SPG7 NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) SNV Pathogenic/Likely pathogenic 6819 rs141659620 16:89598369-89598369 16:89531961-89531961
46 SPG7 NM_003119.4(SPG7):c.1948G>A (p.Asp650Asn) SNV Likely pathogenic 220101 rs769602042 16:89620213-89620213 16:89553805-89553805
47 SPG7 NM_003119.4(SPG7):c.1729G>A (p.Gly577Ser) SNV Likely pathogenic 217006 rs72547552 16:89616967-89616967 16:89550559-89550559
48 SPG7 NM_003119.4(SPG7):c.976_987+3del Deletion Likely pathogenic 239501 rs878854606 16:89597202-89597216 16:89530794-89530808
49 SPG7 NM_003119.4(SPG7):c.1033G>C (p.Ala345Pro) SNV Likely pathogenic 436844 rs368373840 16:89598357-89598357 16:89531949-89531949
50 SPG7 NM_003119.4(SPG7):c.376+1G>T SNV Likely pathogenic 411682 rs746053679 16:89579446-89579446 16:89513038-89513038

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

73
# 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

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 10.95 OPA1 KCNC3 AFG3L2

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 9.73 YME1L1 SPG7 PARL OPA1 COQ8A AFG3L2
2 mitochondrial inner membrane GO:0005743 9.35 YME1L1 SPG7 PARL OPA1 AFG3L2
3 extrinsic component of mitochondrial inner membrane GO:0031314 9.16 OPA1 COQ8A
4 m-AAA complex GO:0005745 8.62 SPG7 AFG3L2

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 9.73 YME1L1 SPG7 PARL AFG3L2
2 mitochondrion organization GO:0007005 9.56 YME1L1 SPG7 OPA1 AFG3L2
3 cristae formation GO:0042407 9.4 SPG7 AFG3L2
4 membrane protein proteolysis GO:0033619 9.37 PARL AFG3L2
5 mitochondrial fusion GO:0008053 9.33 SPG7 OPA1 AFG3L2
6 calcium import into the mitochondrion GO:0036444 9.32 OPA1 AFG3L2
7 mitochondrial protein processing GO:0034982 9.13 YME1L1 SPG7 AFG3L2
8 mitochondrial calcium ion transmembrane transport GO:0006851 8.92 YME1L1 SPG7 PARL AFG3L2

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

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.85 YME1L1 SPG7 SETX OPA1 COQ8A AFG3L2
2 peptidase activity GO:0008233 9.62 YME1L1 SPG7 PARL AFG3L2
3 hydrolase activity GO:0016787 9.56 YME1L1 SPG7 SETX PNPLA6 PARL OPA1
4 metallopeptidase activity GO:0008237 9.43 YME1L1 SPG7 AFG3L2
5 metalloendopeptidase activity GO:0004222 9.33 YME1L1 SPG7 AFG3L2
6 ATP-dependent peptidase activity GO:0004176 8.8 YME1L1 SPG7 AFG3L2

Sources for Spastic Paraplegia 7, 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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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