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 54 71 13 69
Spastic Paraplegia 7 23 50 24 25 29
Spg7 12 50 24 56 71
Spastic Paraplegia Type 7 12 25 56 69
Autosomal Recessive Hereditary Spastic Paraplegia 25 69
Hereditary Spastic Paraplegia, Paraplegin Type 24 25
Hereditary Spastic Paraplegia 7 12 14
Hereditary Spastic Paraplegia 23 25
Hereditary Spastic Paraplegia Paraplegin Type 50
Autosomal Recessive Spastic Paraplegia 7 12
Spastic Paraplegia, Hereditary 69
Paraplegin Type 23
Paraplegin 13
Spg 7 24
Hsp7 24

Characteristics:

Orphanet epidemiological data:

56
spastic paraplegia type 7
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages;

OMIM:

54
Inheritance:
autosomal dominant
autosomal recessive

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

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 99013disease definitionautosomal recessive spastic paraplegia type 7 is a form of hereditary spastic paraplegia (see this term) characterized by an onset usually in adulthood (but ranging from 10-72 years) of progressive bilateral lower limb weakness and spasticity, sphincter dysfunction, decreased vibratory sense at the ankles and with additional manifestations including optical neuropathy, nystagmus, strabismus, decreased hearing, scoliosis, pes cavus, motor and sensory neuropathy, amyotrophy, blepharoptosis and ophthalmoplegia.visit the orphanet disease page for more resources. last updated: 2/2/2015

MalaCards based summary : Spastic Paraplegia 7, Autosomal Recessive, also known as spastic paraplegia 7, is related to hereditary spastic paraplegia and spastic ataxia 5, autosomal recessive, and has symptoms including scoliosis, optic atrophy and nystagmus. An important gene associated with Spastic Paraplegia 7, Autosomal Recessive is SPG7 (SPG7, Paraplegin Matrix AAA Peptidase Subunit), and among its related pathways/superpathways are Glucose / Energy Metabolism and Factors involved in megakaryocyte development and platelet production. Affiliated tissues include brain, spinal cord and eye, and related phenotypes are behavior/neurological and growth/size/body region

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

Genetics Home Reference : 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.

OMIM : 54
Hereditary spastic paraplegia (SPG) is characterized by progressive weakness and spasticity of the lower limbs due to degeneration of corticospinal axons. There is considerable genetic heterogeneity. Inheritance is most often autosomal dominant (see 182600), but X-linked (see 312920) and autosomal recessive (see 270800) forms occur. SPG7 shows phenotypic variability between families. Some cases are pure, whereas other are complicated with additional neurologic features (Warnecke et al., 2007). (607259)

UniProtKB/Swiss-Prot : 71 Spastic paraplegia 7, autosomal recessive: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG7 is a complex form. Additional clinical features are cerebellar syndrome, supranuclear palsy, and cognitive impairment, particularly disturbance of attention and executive functions.

GeneReviews: NBK1107

Related Diseases for Spastic Paraplegia 7, Autosomal Recessive

Diseases in the Spastic Paraplegia 3a family:

Spastic Paraplegia 78, Autosomal Recessive Spastic Paraplegia 29, Autosomal Dominant
Spastic Paraplegia 63 Spastic Paraplegia 47, Autosomal Recessive
Spastic Paraplegia 23 Spastic Paraplegia 44, Autosomal Recessive
Spastic Paraplegia 74, Autosomal Recessive Spastic Paraplegia 4, Autosomal Dominant
Spastic Paraplegia 31, Autosomal Dominant Spastic Paraplegia 13, Autosomal Dominant
Spastic Paraplegia 30, Autosomal Recessive Spastic Paraplegia 57, Autosomal Recessive
Spastic Paraplegia 42, Autosomal Dominant Spastic Paraplegia 14, Autosomal Recessive
Spastic Paraplegia 38, Autosomal Dominant Spastic Paraplegia 79, Autosomal Recessive
Spastic Paraplegia 56, Autosomal Recessive Spastic Paraplegia 72, Autosomal Recessive
Spastic Paraplegia 77, Autosomal Recessive Spastic Paraplegia 25, Autosomal Recessive
Spastic Paraplegia 48, Autosomal Recessive Spastic Paraplegia 50, Autosomal Recessive
Spastic Paraplegia 53, Autosomal Recessive Spastic Paraplegia 37, Autosomal Dominant
Spastic Paraplegia 54, Autosomal Recessive Spastic Paraplegia 18, Autosomal Recessive
Spastic Paraplegia 5a, Autosomal Recessive Spastic Paraplegia 8, Autosomal Dominant
Spastic Paraplegia 46, Autosomal Recessive Spastic Paraplegia 19, Autosomal Dominant
Spastic Paraplegia 27, Autosomal Recessive Spastic Paraplegia 64, Autosomal Recessive
Spastic Paraplegia 33, Autosomal Dominant Spastic Paraplegia 9a, Autosomal Dominant
Spastic Paraplegia 9b, Autosomal Recessive Spastic Paraplegia 45, Autosomal Recessive
Spastic Paraplegia 62 Spastic Paraplegia 41, Autosomal Dominant
Spastic Paraplegia 76, Autosomal Recessive Spastic Paraplegia 10, Autosomal Dominant
Spastic Paraplegia 26, Autosomal Recessive Spastic Paraplegia 36, Autosomal Dominant
Spastic Paraplegia 55, Autosomal Recessive Spastic Paraplegia 24, Autosomal Recessive
Spastic Paraplegia 3a, Autosomal Dominant Spastic Paraplegia 52, Autosomal Recessive
Spastic Paraplegia 32, Autosomal Recessive Spastic Paraplegia 28, Autosomal Recessive
Spastic Paraplegia 15, Autosomal Recessive Spastic Paraplegia 49, Autosomal Recessive
Spastic Paraplegia 6, Autosomal Dominant Spastic Paraplegia 11, Autosomal Recessive
Spastic Paraplegia 51, Autosomal Recessive Spastic Paraplegia 61, Autosomal Recessive
Spastic Paraplegia 35, Autosomal Recessive Spastic Paraplegia 7, Autosomal Recessive
Spastic Paraplegia 39, Autosomal Recessive Spastic Paraplegia 43, Autosomal Recessive
Spastic Paraplegia 75, Autosomal Recessive Spastic Paraplegia 12, Autosomal Dominant
Spastic Paraplegia 73, Autosomal Dominant Hereditary Spastic Paraplegia
Hereditary Spastic Paraplegia 3a Hereditary Spastic Paraplegia 51
Hereditary Spastic Paraplegia 62 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
Spastic Paraplegia 28 Spastic Paraplegia 30
Spastic Paraplegia 33 Spastic Paraplegia 35
Spastic Paraplegia 42 Spastic Paraplegia 43
Spastic Paraplegia 45 Spastic Paraplegia 46
Spastic Paraplegia 47 Spastic Paraplegia 48
Spastic Paraplegia 49 Spastic Paraplegia 50
Spastic Paraplegia 52 Spastic Paraplegia 53
Spastic Paraplegia 54 Spastic Paraplegia 55
Spastic Paraplegia 56 Spastic Paraplegia 57
Spastic Paraplegia 59 Spastic Paraplegia 61
Spastic Paraplegia 64 Spastic Paraplegia 66
Spastic Paraplegia 72 Spastic Paraplegia 75
Spastic Paraplegia 76 Spastic Paraplegia 44
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 top 50) (show all 169)
id Related Disease Score Top Affiliating Genes
1 hereditary spastic paraplegia 34.4 AFG3L2 SPG7
2 spastic ataxia 5, autosomal recessive 29.4 AFG3L2 IMPACT SPG7
3 hereditary spastic paraplegia 3a 12.4
4 hereditary spastic paraplegia 62 12.2
5 hereditary spastic paraplegia 72 12.2
6 hereditary spastic paraplegia 51 12.2
7 troyer syndrome 12.2
8 spastic paraplegia 2, x-linked 12.0
9 spastic paraplegia 11 12.0
10 silver spastic paraplegia syndrome 11.9
11 mast syndrome 11.9
12 masa syndrome 11.9
13 spg11-related hereditary spastic paraplegia with thin corpus callosum 11.9
14 spastic paraplegia 5a, autosomal recessive 11.8
15 spastic paraplegia 11, autosomal recessive 11.8
16 spastic paraplegia 23 11.8
17 spastic paraplegia 4, autosomal dominant 11.8
18 spastic paraplegia 13, autosomal dominant 11.8
19 spastic paraplegia 15, autosomal recessive 11.8
20 spastic paraplegia 41, autosomal dominant 11.8
21 spastic paraplegia 30, autosomal recessive 11.8
22 spastic paraplegia 37, autosomal dominant 11.8
23 spastic paraplegia 49, autosomal recessive 11.8
24 spastic paraplegia 54, autosomal recessive 11.8
25 spastic paraplegia 6, autosomal dominant 11.8
26 spastic paraplegia 57, autosomal recessive 11.8
27 spastic paraplegia 18, autosomal recessive 11.8
28 spastic paraplegia 29, autosomal dominant 11.8
29 spastic paraplegia 42, autosomal dominant 11.8
30 spastic paraplegia 8, autosomal dominant 11.8
31 spastic paraplegia 10, autosomal dominant 11.8
32 spastic paraplegia 61, autosomal recessive 11.8
33 spastic paraplegia 14, autosomal recessive 11.8
34 spastic paraplegia 46, autosomal recessive 11.8
35 spastic paraplegia 26, autosomal recessive 11.8
36 spastic paraplegia 35, autosomal recessive 11.8
37 spastic paraplegia 36, autosomal dominant 11.8
38 spastic paraplegia 38, autosomal dominant 11.8
39 spastic paraplegia 55, autosomal recessive 11.8
40 spastic paraplegia 56, autosomal recessive 11.8
41 spastic paraplegia 24, autosomal recessive 11.8
42 spastic paraplegia 39, autosomal recessive 11.8
43 spastic paraplegia 44, autosomal recessive 11.8
44 spastic paraplegia 43, autosomal recessive 11.8
45 spastic paraplegia 12, autosomal dominant 11.8
46 spastic paraplegia 25, autosomal recessive 11.8
47 spastic paraplegia 32, autosomal recessive 11.8
48 spastic paraplegia 31, autosomal dominant 11.8
49 spastic paraplegia 48, autosomal recessive 11.8
50 spastic paraplegia 45, autosomal recessive 11.8

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:

54

Skeletal- Spine:
scoliosis

Neurologic- Central Nervous System:
dysarthria
hyperreflexia
extensor plantar responses
pyramidal signs
cortical atrophy
more
Skeletal- Feet:
pes cavus

Head And Neck- Eyes:
optic atrophy
nystagmus
supranuclear palsy

Genitourinary- Bladder:
urinary urgency
urinary incontinence
sphincter disturbances

Abdomen- Gastroin testinal:
dysphagia (rare)


Clinical features from OMIM:

607259

Human phenotypes related to Spastic Paraplegia 7, Autosomal Recessive:

32 (show all 21)
id Description HPO Frequency HPO Source Accession
1 scoliosis 32 HP:0002650
2 optic atrophy 32 HP:0000648
3 nystagmus 32 HP:0000639
4 dysphagia 32 HP:0002015
5 dysarthria 32 HP:0001260
6 hyperreflexia 32 HP:0001347
7 spastic paraplegia 32 HP:0001258
8 urinary urgency 32 HP:0000012
9 pes cavus 32 HP:0001761
10 lower limb spasticity 32 HP:0002061
11 cerebral cortical atrophy 32 HP:0002120
12 gait ataxia 32 HP:0002066
13 cerebellar atrophy 32 HP:0001272
14 urinary incontinence 32 HP:0000020
15 memory impairment 32 HP:0002354
16 spastic gait 32 HP:0002064
17 degeneration of the lateral corticospinal tracts 32 HP:0002314
18 babinski sign 32 HP:0003487
19 lower limb muscle weakness 32 HP:0007340
20 urinary bladder sphincter dysfunction 32 HP:0002839
21 impaired vibration sensation in the lower limbs 32 HP:0002166

UMLS symptoms related to Spastic Paraplegia 7, Autosomal Recessive:


leg cramps, pain in lower limb, abnormal pyramidal signs, gait ataxia, lower limb muscle weakness

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.97 AFG3L2 CYCS KIF1A KY MFN1 MFN2
2 growth/size/body region MP:0005378 9.96 AFG3L2 CYCS KIF1A KY MFN1 MFN2
3 mortality/aging MP:0010768 9.81 AFG3L2 CYCS KIF1A MFN1 MFN2 OPA1
4 embryo MP:0005380 9.72 CYCS MFN1 MFN2 OPA1 AFG3L2
5 muscle MP:0005369 9.43 AFG3L2 KY MFN2 OPA1 PARL YME1L1
6 nervous system MP:0003631 9.28 MFN1 MFN2 OPA1 PARL SPG7 AFG3L2

Drugs & Therapeutics for Spastic Paraplegia 7, Autosomal Recessive

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

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:

id Genetic test Affiliating Genes
1 Spastic Paraplegia 7 29 24 SPG7

Anatomical Context for Spastic Paraplegia 7, Autosomal Recessive

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

39
Brain, Spinal Cord, Eye

Publications for Spastic Paraplegia 7, Autosomal Recessive

Variations for Spastic Paraplegia 7, Autosomal Recessive

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

71
id 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 all 35)
id 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.233T> A (p.Leu78Ter) single nucleotide variant Pathogenic rs121918358 GRCh37 Chromosome 16, 89576947: 89576947
8 SPG7 SPG7, 1-BP DEL, 1616C deletion Pathogenic
9 SPG7 SPG7, 5.1-KB DEL deletion Pathogenic
10 SPG7 NM_003119.3(SPG7): c.1045G> A (p.Gly349Ser) single nucleotide variant Pathogenic/Likely pathogenic rs141659620 GRCh37 Chromosome 16, 89598369: 89598369
11 SPG7 NM_003119.3(SPG7): c.1749G> C (p.Trp583Cys) single nucleotide variant Pathogenic rs267607085 GRCh37 Chromosome 16, 89616987: 89616987
12 SPG7 NM_003119.3(SPG7): c.1529C> T (p.Ala510Val) single nucleotide variant Pathogenic/Likely pathogenic rs61755320 GRCh37 Chromosome 16, 89613145: 89613145
13 KIF1A NM_001244008.1(KIF1A): c.206C> T (p.Ser69Leu) single nucleotide variant Pathogenic rs786200949 GRCh37 Chromosome 2, 241727625: 241727625
14 SPG7 NM_003119.3(SPG7): c.1672A> T (p.Lys558Ter) single nucleotide variant Pathogenic rs369227537 GRCh38 Chromosome 16, 89550502: 89550502
15 SPG7 NM_003119.3(SPG7): c.1A> G (p.Met1Val) single nucleotide variant Likely pathogenic rs794726906 GRCh37 Chromosome 16, 89574826: 89574826
16 SPG7 NM_003119.3(SPG7): c.861dupT (p.Asn288Terfs) duplication Pathogenic rs797046003 GRCh37 Chromosome 16, 89595987: 89595987
17 SPG7 NM_003119.3(SPG7): c.2228T> C (p.Ile743Thr) single nucleotide variant Pathogenic/Likely pathogenic rs752623413 GRCh37 Chromosome 16, 89623341: 89623341
18 SPG7 NM_003119.3(SPG7): c.1408C> T (p.Arg470Ter) single nucleotide variant Pathogenic rs748555510 GRCh38 Chromosome 16, 89544731: 89544731
19 SPG7 NM_003119.3(SPG7): c.1729G> A (p.Gly577Ser) single nucleotide variant Likely pathogenic rs72547552 GRCh38 Chromosome 16, 89550559: 89550559
20 SPG7 NM_003119.3(SPG7): c.473_474delTC (p.Leu158Glnfs) deletion Pathogenic rs879253798 GRCh37 Chromosome 16, 89590510: 89590511
21 SPG7 NM_003119.3(SPG7): c.988-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs748309520 GRCh37 Chromosome 16, 89598311: 89598311
22 SPG7 NM_003119.3(SPG7): c.1715C> T (p.Ala572Val) single nucleotide variant Pathogenic/Likely pathogenic rs72547551 GRCh37 Chromosome 16, 89616953: 89616953
23 SPG7 NM_003119.3(SPG7): c.1996G> A (p.Gly666Arg) single nucleotide variant Pathogenic rs752989523 GRCh38 Chromosome 16, 89553853: 89553853
24 SPG7 NM_003119.3(SPG7): c.2249C> T (p.Pro750Leu) single nucleotide variant Pathogenic rs879253797 GRCh37 Chromosome 16, 89623362: 89623362
25 SPG7 NM_003119.3(SPG7): c.976_987+3delGATTATCTGAAGGTG deletion Likely pathogenic rs878854606 GRCh38 Chromosome 16, 89530797: 89530811
26 SPG7 NM_003119.3(SPG7): c.1553-?_1779+?del deletion Pathogenic
27 SPG7 NM_003119.3(SPG7): c.637C> T (p.Arg213Ter) single nucleotide variant Pathogenic rs774774648 GRCh37 Chromosome 16, 89592755: 89592755
28 KY NM_178554.4(KY): c.51_52insTATCGACATGTGCTGTATCTATCGACAT (p.Val18Tyrfs) insertion Pathogenic rs1085307110 GRCh37 Chromosome 3, 134369751: 134369752
29 SPG7 NM_003119.3(SPG7): c.1053dupC (p.Gly352Argfs) duplication Pathogenic GRCh38 Chromosome 16, 89531969: 89531969
30 SPG7 NM_003119.3(SPG7): c.2096dupT (p.Met699Ilefs) duplication Pathogenic rs1060503427 GRCh38 Chromosome 16, 89553953: 89553953
31 SPG7 NM_003119.3(SPG7): c.1628_1629delTC (p.Leu543Glnfs) deletion Pathogenic rs1060503426 GRCh38 Chromosome 16, 89548078: 89548079
32 SPG7 NM_003119.3(SPG7): c.376+1G> T single nucleotide variant Likely pathogenic rs746053679 GRCh38 Chromosome 16, 89513038: 89513038
33 SPG7 NM_003119.3(SPG7): c.1045_1046delGGinsAGC (p.Gly349Serfs) indel Pathogenic rs1060503425 GRCh38 Chromosome 16, 89531961: 89531962
34 SPG7 NM_003119.3(SPG7): c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del) deletion Pathogenic/Likely pathogenic rs1060503428 GRCh38 Chromosome 16, 89546662: 89546670
35 SPG7 NM_003119.3(SPG7): c.1033G> C (p.Ala345Pro) single nucleotide variant Likely pathogenic rs368373840 GRCh37 Chromosome 16, 89598357: 89598357

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:

id Super pathways Score Top Affiliating Genes
1 11.8 MFN1 MFN2 OPA1
2 11 KIF1A MFN1 MFN2
3
Show member pathways
10.62 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:

id Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.56 AFG3L2 CYCS MFN1 MFN2 OPA1 PARL
2 mitochondrial outer membrane GO:0005741 9.5 MFN1 MFN2 OPA1
3 axon cytoplasm GO:1904115 9.43 KIF1A OPA1 SPG7
4 m-AAA complex GO:0005745 9.16 AFG3L2 SPG7
5 mitochondrial inner membrane GO:0005743 9.1 AFG3L2 CYCS OPA1 PARL SPG7 YME1L1

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

id Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.73 AFG3L2 KY PARL RHBDL1 SPG7 YME1L1
2 mitochondrion organization GO:0007005 9.55 AFG3L2 CYCS OPA1 SPG7 YME1L1
3 anterograde axonal transport GO:0008089 9.43 KIF1A SPG7
4 mitochondrion localization GO:0051646 9.37 MFN1 MFN2
5 mitochondrial calcium ion transport GO:0006851 9.26 AFG3L2 PARL SPG7 YME1L1
6 GTP metabolic process GO:0046039 9.1 MFN1
7 mitochondrial protein processing GO:0034982 9.02 AFG3L2
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:

id 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 9.43 AFG3L2 KY PARL RHBDL1 SPG7 YME1L1
4 metalloendopeptidase activity GO:0004222 9.33 AFG3L2 SPG7 YME1L1
5 hydrolase activity GO:0016787 9.28 AFG3L2 KY MFN1 MFN2 OPA1 PARL

Sources for Spastic Paraplegia 7, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
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70 UMLS via Orphanet
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