SPG7
MCID: SPS128
MIFTS: 57

Spastic Paraplegia 7, Autosomal Recessive (SPG7)

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

Aliases & Classifications for Spastic Paraplegia 7, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 7, Autosomal Recessive:

Name: Spastic Paraplegia 7, Autosomal Recessive 56 73 13 71
Spg7 56 12 52 58 73
Hereditary Spastic Paraplegia 7 12 29 6 15
Spastic Paraplegia Type 7 12 25 58 71
Spastic Paraplegia 7 24 52 25
Autosomal Recessive Hereditary Spastic Paraplegia 25 71
Hereditary Spastic Paraplegia, Paraplegin Type 24 25
Paraplegia, Spastic, Autosomal Recessive, Type 7 39
Hereditary Spastic Paraplegia Paraplegin Type 52
Autosomal Recessive Spastic Paraplegia 7 12
Spastic Paraplegia, Hereditary 71
Hereditary Spastic Paraplegia 25

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
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


External Ids:

Disease Ontology 12 DOID:0110816
OMIM 56 607259
OMIM Phenotypic Series 56 PS303350
MeSH 43 D015419
ICD10 32 G11.4
ICD10 via Orphanet 33 G11.4
UMLS via Orphanet 72 C1846564 C3711370
Orphanet 58 ORPHA99013
MedGen 41 C1846564
UMLS 71 C0037773 C0751603 C1846564 more

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. Like all hereditary spastic paraplegias, spastic paraplegia type 7 involves spasticity of the leg muscles and increased muscle weakness. People with this form of spastic paraplegia can also experience 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 are usually noticeable in adulthood.

MalaCards based summary : Spastic Paraplegia 7, Autosomal Recessive, also known as spg7, is related to spinocerebellar ataxia 28 and hereditary spastic paraplegia, 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). The drugs Acetylcholine and Cholinergic Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and spinal cord, and related phenotypes are spastic gait and optic atrophy

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.

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 99013 Definition A 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 : 56 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 : 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
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 446)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia 28 32.2 YME1L1 SPG7 AFG3L2
2 hereditary spastic paraplegia 31.9 SPG7 SACS PNPLA6 AFG3L2
3 spastic paraplegia 20, autosomal recessive 31.8 SPG7 PNPLA6
4 spastic ataxia 31.8 SPG7 SACS PNPLA6 AFG3L2
5 spastic paraplegia 5a, autosomal recessive 31.5 SPG7 PNPLA6
6 spastic paraplegia 54, autosomal recessive 31.4 SPG7 PNPLA6
7 3-methylglutaconic aciduria, type iii 31.4 YME1L1 SPG7 PARL OPA1 AFG3L2
8 spastic paraplegia 46, autosomal recessive 31.4 SPG7 PNPLA6
9 spastic ataxia 5 31.3 YME1L1 SPG7 PARL AFG3L2
10 kearns-sayre syndrome 31.3 SPG7 COQ8A APTX AFG3L2
11 perrault syndrome 31.3 YME1L1 SPG7 PARL AFG3L2
12 optic nerve disease 31.3 YME1L1 SPG7 PARL OPA1 AFG3L2
13 ptosis 31.2 SPG7 OPA1 AFG3L2
14 spastic paraplegia 35, autosomal recessive 31.2 SPG7 PNPLA6
15 leber optic atrophy 31.1 SPG7 PARL OPA1
16 autosomal dominant cerebellar ataxia 31.0 TTPA SPG7 SACS APTX AFG3L2
17 cranial nerve disease 31.0 YME1L1 SPG7 PARL OPA1
18 spinocerebellar ataxia, autosomal recessive 14 30.7 SPG7 SACS COQ8A AFG3L2
19 mitochondrial metabolism disease 30.5 SPG7 OPA1 COQ8A APTX
20 autosomal recessive cerebellar ataxia 30.3 TTPA SPG7 SACS COQ8A APTX ANO10
21 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 30.2 OPA1 AFG3L2
22 peripheral nervous system disease 29.9 SACS PNPLA6 OPA1 APTX
23 optic atrophy 1 29.8 YME1L1 PARL OPA1
24 spinocerebellar degeneration 29.8 TTPA PNPLA6
25 hereditary ataxia 29.6 TTPA SPG7 SACS PNPLA6 COQ8A APTX
26 hereditary spastic paraplegia 23 12.8
27 hereditary spastic paraplegia 30 12.8
28 hereditary spastic paraplegia 72 12.8
29 hereditary spastic paraplegia 51 12.7
30 pure hereditary spastic paraplegia 12.6
31 pure or complex hereditary spastic paraplegia 12.6
32 spastic paraplegia 3, autosomal dominant 12.5
33 ap-4-associated hereditary spastic paraplegia 12.5
34 spastic paraplegia 17, autosomal dominant 12.5
35 spastic paraplegia 12, autosomal dominant 12.4
36 spastic paraplegia 39, autosomal recessive 12.4
37 spastic paraplegia 9a, autosomal dominant 12.4
38 spastic paraplegia 26, autosomal recessive 12.4
39 spastic paraplegia 11 12.4
40 spastic paraplegia 48, autosomal recessive 12.4
41 mast syndrome 12.4
42 spastic paraplegia 34, x-linked 12.4
43 spastic paraplegia 28, autosomal recessive 12.4
44 spastic paraplegia 42, autosomal dominant 12.4
45 spastic paraplegia 43, autosomal recessive 12.4
46 spastic paraplegia 9b, autosomal recessive 12.4
47 spastic paraplegia 19, autosomal dominant 12.4
48 spastic paraplegia 24, autosomal recessive 12.4
49 spastic paraplegia 29, autosomal dominant 12.4
50 spastic paraplegia 38, autosomal dominant 12.4

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 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 spastic gait 58 31 hallmark (90%) Very frequent (99-80%) HP:0002064
2 optic atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000648
3 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
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 frequent (33%) Frequent (79-30%) HP:0003487
8 cerebellar atrophy 58 31 frequent (33%) 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 frequent (33%) 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 frequent (33%) 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 frequent (33%) Frequent (79-30%) HP:0006895
17 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
18 cerebral cortical atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002120
19 dysarthria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001260
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 occasional (7.5%) Occasional (29-5%) HP:0003484
24 dysphagia 58 31 very rare (1%) Very rare (<4-1%) HP:0002015
25 memory impairment 58 31 very rare (1%) Very rare (<4-1%) HP:0002354
26 specific learning disability 58 31 very rare (1%) Very rare (<4-1%) HP:0001328
27 lower limb pain 58 31 very rare (1%) Very rare (<4-1%) HP:0012514
28 abnormal pyramidal sign 58 Frequent (79-30%)
29 hyperreflexia 31 HP:0001347
30 spastic paraplegia 31 HP:0001258
31 gait ataxia 31 HP:0002066
32 sensory impairment 58 Frequent (79-30%)
33 abnormality of higher mental function 58 Frequent (79-30%)
34 lower limb spasticity 31 HP:0002061
35 urinary incontinence 31 HP:0000020
36 urinary bladder sphincter dysfunction 31 HP:0002839
37 degeneration of the lateral corticospinal tracts 31 HP:0002314

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
scoliosis

Neurologic Central Nervous System:
hyperreflexia
dysarthria
cerebellar atrophy
lower limb spasticity
spastic gait
more
Genitourinary Bladder:
urinary incontinence
urinary urgency
sphincter disturbances

Head And Neck Eyes:
optic atrophy
nystagmus
supranuclear palsy

Skeletal Feet:
pes cavus

Abdomen Gastrointestinal:
dysphagia (rare)

Clinical features from OMIM:

607259

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.1 AFG3L2 COQ8A OPA1 PARL TTPA 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 31)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved, Investigational Phase 2, Phase 3 51-84-3 187
2 Cholinergic Agents Phase 2, Phase 3
3 Neurotransmitter Agents Phase 2, Phase 3
4 Botulinum Toxins Phase 2, Phase 3
5
chenodeoxycholic acid Approved Phase 2 474-25-9 10133
6
Atorvastatin Approved Phase 2 134523-00-5 60823
7
Evolocumab Approved Phase 1, Phase 2 1256937-27-5
8
Resveratrol Investigational Phase 2 501-36-0 445154
9 Gastrointestinal Agents Phase 2
10 Cathartics Phase 2
11 Antioxidants Phase 2
12 Platelet Aggregation Inhibitors Phase 2
13 Analgesics Phase 2
14 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
15 Analgesics, Non-Narcotic Phase 2
16 Laxatives Phase 2
17 Antirheumatic Agents Phase 2
18 Anti-Inflammatory Agents Phase 2
19 Protective Agents Phase 2
20 Anti-Inflammatory Agents, Non-Steroidal Phase 2
21 Hypolipidemic Agents Phase 1, Phase 2
22 Lipid Regulating Agents Phase 1, Phase 2
23 Anticholesteremic Agents Phase 1, Phase 2
24 Antimetabolites Phase 1, Phase 2
25
Doxorubicin Approved, Investigational 23214-92-8 31703
26
Idebenone Approved, Investigational 58186-27-9
27
Choline Approved, Nutraceutical 62-49-7 305
28
Creatine Approved, Investigational, Nutraceutical 57-00-1 586
29
Aspartic acid Approved, Nutraceutical 56-84-8 5960
30 N-Methylaspartate
31
Liposomal doxorubicin 31703

Interventional clinical trials:

(show all 18)
# 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 Pilot Study of Repetitive Transcranial Magnetic Stimulation for Improvement of Gait in Hereditary Spastic Paraplegia and Adrenomyeloneuropathy Completed NCT03627416
6 Nuclear Magnetic Spectroscopy for the Evaluation of Primary Lateral Sclerosis, Hereditary Spastic Paraplegia and Amyotrophic Lateral Sclerosis Completed NCT00023075
7 A Patient Centric Motor Neuron Disease Activities of Daily Living Scale Completed NCT02852278
8 Studying Cognition in SPG4 Compared to Healthy Controls Completed NCT03104088
9 The Ability of Strain Echocardiography to Predict Cardiotoxicity in Patients Receiving Standard Chemotherapy Regimens Containing Doxorubicin Completed NCT02423356
10 Disease Natural History and Biomarkers of SPG3A, SPG4 and SPG31 Recruiting NCT02859428
11 Phenotypes, Biomarkers and Pathophysiology in Hereditary Spastic Paraplegias and Related Disorders Recruiting NCT03981276
12 Studying the Presymptomatic and Early Phase of SPG4 Recruiting NCT03206190
13 Phenotype, Genotype & Biomarkers in ALS and Related Disorders Recruiting NCT02327845
14 Improving Gait Adaptability in Hereditary Spastic Paraplegia During Task-specific Training on the C-Mill: Towards Evidence-Based and Individually Tailored Rehabilitation Recruiting NCT04180098
15 Studying Non-motor Symptoms in Patients With Hereditary Spastic Paraplegia (HSP) Compared to Healthy Controls Recruiting NCT03204773
16 SNAP: Measurement of the Subjective Perception of the Symptom in Hereditary Spastic Paraparesis (HSP) Recruiting NCT04256681
17 Clinical and Molecular Manifestations of Neuromuscular and Neurogenetic Disorders of Childhood Recruiting NCT01568658
18 Investigating the Role of SPG20,STK31 Genes in the Carcinogenesis of Colorectal Cancer Not yet recruiting NCT03261752

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, Brain, Spinal Cord, Prostate, Endothelial

Publications for Spastic Paraplegia 7, Autosomal Recessive

Articles related to Spastic Paraplegia 7, Autosomal Recessive:

(show top 50) (show all 166)
# 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. 24 61 56 6
22571692 2013
2
A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia. 61 24 56 6
18200586 2008
3
Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia. 61 6 56 24
16534102 2006
4
A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3. 56 24 6
9634528 1998
5
Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. 56 6 24
9635427 1998
6
A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation. 61 6 56
17646629 2007
7
Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes. 56 24
18799786 2008
8
Functional evaluation of paraplegin mutations by a yeast complementation assay. 61 6
20186691 2010
9
Spastic Paraplegia 7 6 61
20301286 2006
10
Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways. 24 61
28195350 2017
11
SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. 24 61
26626314 2016
12
The MicroRNA-224 Inhibitor Prevents Neuronal Apoptosis via Targeting Spastic Paraplegia 7 After Cerebral Ischemia. 61 24
27165196 2016
13
Compound heterozygote mutations in SPG7 in a family with adult-onset primary lateral sclerosis. 24 61
27123479 2016
14
Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS Cohort. 24 61
27790088 2016
15
SPG7 Is an Essential and Conserved Component of the Mitochondrial Permeability Transition Pore. 24 61
26387735 2015
16
SPG7 mutations are a common cause of undiagnosed ataxia. 61 24
25681447 2015
17
Predominant cerebellar phenotype in spastic paraplegia 7 (SPG7). 61 24
27081526 2015
18
SPG7 variant escapes phosphorylation-regulated processing by AFG3L2, elevates mitochondrial ROS, and is associated with multiple clinical phenotypes. 61 24
24767997 2014
19
Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance. 24 61
24727571 2014
20
Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions. 61 24
24466038 2014
21
Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy. 24 61
23065789 2012
22
Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort. 24 61
22964162 2012
23
A novel splice site mutation in the SPG7 gene causing widespread fiber damage in homozygous and heterozygous subjects. 61 24
20108356 2010
24
Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene. 61 24
18563470 2008
25
A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia. 24 61
14985266 2004
26
Hereditary Spastic Paraplegia Overview 6
20301682 2000
27
The dosage and administration of long-term intrathecal baclofen therapy for severe spasticity of spinal origin. 24
29895878 2018
28
The m-AAA Protease Associated with Neurodegeneration Limits MCU Activity in Mitochondria. 24
27642048 2016
29
Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome. 24
26385635 2015
30
Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28. 24
20208537 2010
31
Autocatalytic processing of m-AAA protease subunits in mitochondria. 24
19656850 2009
32
MR imaging findings in autosomal recessive hereditary spastic paraplegia. 24
19193756 2009
33
Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms. 24
19007737 2008
34
The mitochondrial protease AFG3L2 is essential for axonal development. 24
18337413 2008
35
The Spastic Paraplegia Rating Scale (SPRS): a reliable and valid measure of disease severity. 24
16894103 2006
36
Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. 24
16437557 2006
37
Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia. 24
14623864 2003
38
The hereditary spastic paraplegias: nine genes and counting. 24
12925358 2003
39
Transcranial magnetic stimulation study in hereditary spastic paraparesis. 24
12736541 2003
40
Hereditary spastic paraplegia. 24
12432827 2002
41
Increased intracortical facilitation in patients with autosomal dominant pure spastic paraplegia linked to chromosome 2p. 24
11422430 2001
42
Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England. 24
11222789 2001
43
Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy. 61
32548275 2020
44
A new paraplegin mutation in a patient with primary progressive multiple sclerosis. 61
32570181 2020
45
Teaching Video NeuroImages: Palatal tremor associated with SPG7 variants. 61
32317346 2020
46
SPG7 mutations in amyotrophic lateral sclerosis: a genetic link to hereditary spastic paraplegia. 61
32447552 2020
47
Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases. 61
32305867 2020
48
A Spanish family with a compound heterozygous mutation in SPG7: From uncertainty to clinical reality. 61
32204931 2020
49
Genetic manipulation of SPG7 or NipSnap2 does not affect mitochondrial permeability transition. 61
32123581 2020
50
A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases. 61
31854126 2020

Variations for Spastic Paraplegia 7, Autosomal Recessive

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

6 (show top 50) (show all 202) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SPG7 NM_003119.4(SPG7):c.1053dup (p.Gly352fs)duplication Pathogenic 411675 rs760818649 16:89598370-89598371 16:89531962-89531963
2 SPG7 NM_003119.4(SPG7):c.1626_1627TC[1] (p.Leu543fs)short repeat Pathogenic 411677 rs766155407 16:89614483-89614484 16:89548075-89548076
3 SPG7 NM_003119.4(SPG7):c.1045_1046delinsAGC (p.Gly349fs)indel Pathogenic 411676 rs1060503425 16:89598369-89598370 16:89531961-89531962
4 SPG7 NM_003119.4(SPG7):c.2115_2131del (p.Leu706fs)deletion Pathogenic 465175 rs748255454 16:89620903-89620919 16:89554495-89554511
5 SPG7 NM_003119.4(SPG7):c.771_772TG[1] (p.Val258fs)short repeat Pathogenic 504920 rs768136171 16:89595899-89595900 16:89529489-89529490
6 SPG7 NM_003119.4(SPG7):c.850_851delinsC (p.Phe284fs)indel Pathogenic 533735 rs768595656 16:89595976-89595977 16:89529568-89529569
7 SPG7 NC_000016.10:g.(?_89529457)_(89529599_?)deldeletion Pathogenic 584118 16:89595865-89596007 16:89529457-89529599
8 SPG7 NM_003119.4(SPG7):c.86G>A (p.Trp29Ter)SNV Pathogenic 646516 16:89574911-89574911 16:89508503-89508503
9 SPG7 NM_003119.4(SPG7):c.1553-2A>GSNV Pathogenic 576145 rs1229749476 16:89614409-89614409 16:89548001-89548001
10 SPG7 NC_000016.10:g.(?_89508408)_(89508610_?)deldeletion Pathogenic 658452 16:89574816-89575018 16:89508408-89508610
11 SPG7 NM_003119.4(SPG7):c.1171_1172dup (p.Ser392fs)duplication Pathogenic 857760 16:89598889-89598890 16:89532481-89532482
12 SPG7 NM_003119.4(SPG7):c.1552+1G>TSNV Pathogenic 807498 16:89613169-89613169 16:89546761-89546761
13 SPG7 NC_000016.10:g.(?_89510480)_(89513047_?)deldeletion Pathogenic 831061 16:89576888-89579455
14 SPG7 SPG7, 2-BP DEL, NT784deletion Pathogenic 6810
15 SPG7 SPG7, 1-BP INS, 2228Ainsertion Pathogenic 6811
16 SPG7 SPG7, 9.5-KB DELdeletion Pathogenic 6812
17 SPG7 SPG7, 2-BP DEL, 1-BP INS, 850indel Pathogenic 6813
18 SPG7 NM_003119.4(SPG7):c.1739_1741TGG[1] (p.Val581del)short repeat Pathogenic 6814 16:89616977-89616979 16:89550569-89550571
19 SPG7 NM_003119.4(SPG7):c.2075G>C (p.Ser692Thr)SNV Pathogenic 6815 rs121918357 16:89620340-89620340 16:89553932-89553932
20 SPG7 NM_003119.4(SPG7):c.233T>A (p.Leu78Ter)SNV Pathogenic 6816 rs121918358 16:89576947-89576947 16:89510539-89510539
21 SPG7 SPG7, 1-BP DEL, 1616Cdeletion Pathogenic 6817
22 SPG7 SPG7, 5.1-KB DELdeletion Pathogenic 6818
23 SPG7 NM_003119.4(SPG7):c.1672A>T (p.Lys558Ter)SNV Pathogenic 188276 rs369227537 16:89616910-89616910 16:89550502-89550502
24 SPG7 NM_003119.4(SPG7):c.861dup (p.Asn288Ter)duplication Pathogenic 212294 rs797046003 16:89595983-89595984 16:89529575-89529576
25 SPG7 NM_003119.4(SPG7):c.1408C>T (p.Arg470Ter)SNV Pathogenic 216088 rs748555510 16:89611139-89611139 16:89544731-89544731
26 SPG7 NM_003119.4(SPG7):c.471_472TC[1] (p.Leu158fs)short repeat Pathogenic 217272 rs879253798 16:89590507-89590508 16:89524099-89524100
27 SPG7 NM_003119.4(SPG7):c.988-1G>ASNV Pathogenic 217270 rs748309520 16:89598311-89598311 16:89531903-89531903
28 SPG7 NM_003119.4(SPG7):c.1996G>A (p.Gly666Arg)SNV Pathogenic 217271 rs752989523 16:89620261-89620261 16:89553853-89553853
29 SPG7 NM_003119.4(SPG7):c.2249C>T (p.Pro750Leu)SNV Pathogenic 217268 rs879253797 16:89623362-89623362 16:89556954-89556954
30 SPG7 NM_003119.3(SPG7):c.1553-?_1779+?deldeletion Pathogenic 254070
31 SPG7 NM_003119.4(SPG7):c.976_987+3deldeletion Pathogenic/Likely pathogenic 239501 rs878854606 16:89597202-89597216 16:89530794-89530808
32 SPG7 NM_003119.4(SPG7):c.1715C>T (p.Ala572Val)SNV Pathogenic/Likely pathogenic 217269 rs72547551 16:89616953-89616953 16:89550545-89550545
33 SPG7 NM_003119.4(SPG7):c.1675A>T (p.Lys559Ter)SNV Pathogenic/Likely pathogenic 215215 rs372981030 16:89616913-89616913 16:89550505-89550505
34 SPG7 NM_003119.4(SPG7):c.2228T>C (p.Ile743Thr)SNV Pathogenic/Likely pathogenic 215218 rs752623413 16:89623341-89623341 16:89556933-89556933
35 SPG7 NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser)SNV Pathogenic/Likely pathogenic 6819 rs141659620 16:89598369-89598369 16:89531961-89531961
36 SPG7 NM_003119.4(SPG7):c.2271del (p.Met757fs)deletion Pathogenic/Likely pathogenic 522825 rs1217391623 16:89623384-89623384 16:89556976-89556976
37 SPG7 NM_003119.4(SPG7):c.1049_1077del (p.Pro350fs)deletion Pathogenic/Likely pathogenic 495055 rs775364547 16:89598369-89598397 16:89531961-89531989
38 SPG7 NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del)deletion Pathogenic/Likely pathogenic 411680 rs768823392 16:89613065-89613073 16:89546657-89546665
39 SPG7 NM_003119.4(SPG7):c.376+1G>TSNV Pathogenic/Likely pathogenic 411682 rs746053679 16:89579446-89579446 16:89513038-89513038
40 SPG7 NM_003119.4(SPG7):c.1033G>C (p.Ala345Pro)SNV Likely pathogenic 436844 rs368373840 16:89598357-89598357 16:89531949-89531949
41 SPG7 NM_003119.4(SPG7):c.1937-2A>GSNV Likely pathogenic 465174 rs568556987 16:89620200-89620200 16:89553792-89553792
42 SPG7 NM_003119.4(SPG7):c.861+1G>TSNV Likely pathogenic 533737 rs1412575396 16:89595988-89595988 16:89529580-89529580
43 SPG7 NC_000016.9:g.(?_89576878)_(89579465_?)dupduplication Likely pathogenic 584185 16:89576878-89579465 16:89510470-89513057
44 SPG7 NM_003119.4(SPG7):c.1749G>C (p.Trp583Cys)SNV Likely pathogenic 6820 rs267607085 16:89616987-89616987 16:89550579-89550579
45 SPG7 NM_003119.4(SPG7):c.2104-2A>GSNV Likely pathogenic 617546 rs1567934754 16:89620892-89620892 16:89554484-89554484
46 SPG7 NM_003119.4(SPG7):c.861+1G>CSNV Likely pathogenic 623233 rs1412575396 16:89595988-89595988 16:89529580-89529580
47 SPG7 NM_003119.4(SPG7):c.1997G>T (p.Gly666Val)SNV Likely pathogenic 803288 16:89620262-89620262 16:89553854-89553854
48 SPG7 NM_003119.4(SPG7):c.1729G>A (p.Gly577Ser)SNV Likely pathogenic 217006 rs72547552 16:89616967-89616967 16:89550559-89550559
49 SPG7 NM_003119.4(SPG7):c.2083C>G (p.Leu695Val)SNV Conflicting interpretations of pathogenicity 321287 rs754203248 16:89620348-89620348 16:89553940-89553940
50 SPG7 NM_003119.4(SPG7):c.1359G>A (p.Ala453=)SNV Conflicting interpretations of pathogenicity 321282 rs115448299 16:89611090-89611090 16:89544682-89544682

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

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 YME1L1 SPG7 RHBDL1 PNPLA6 PARL OPA1
2 mitochondrion GO:0005739 9.7 YME1L1 SPG7 SACS PARL OPA1 COQ8A
3 mitochondrial inner membrane GO:0005743 9.35 YME1L1 SPG7 PARL OPA1 AFG3L2
4 extrinsic component of mitochondrial inner membrane GO:0031314 9.26 OPA1 COQ8A
5 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 9.72 YME1L1 SPG7 RHBDL1 PARL AFG3L2
2 mitochondrion organization GO:0007005 9.56 YME1L1 SPG7 OPA1 AFG3L2
3 cristae formation GO:0042407 9.46 SPG7 AFG3L2
4 negative regulation of release of cytochrome c from mitochondria GO:0090201 9.43 PARL OPA1
5 membrane protein proteolysis GO:0033619 9.4 PARL AFG3L2
6 calcium import into the mitochondrion GO:0036444 9.37 OPA1 AFG3L2
7 mitochondrial fusion GO:0008053 9.33 SPG7 OPA1 AFG3L2
8 mitochondrial protein processing GO:0034982 9.13 YME1L1 SPG7 AFG3L2
9 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 metallopeptidase activity GO:0008237 9.43 YME1L1 SPG7 AFG3L2
2 peptidase activity GO:0008233 9.35 YME1L1 SPG7 RHBDL1 PARL AFG3L2
3 metalloendopeptidase activity GO:0004222 9.33 YME1L1 SPG7 AFG3L2
4 hydrolase activity GO:0016787 9.23 YME1L1 SPG7 RHBDL1 PNPLA6 PARL OPA1

Sources for Spastic Paraplegia 7, Autosomal Recessive

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