SPG75
MCID: SPS213
MIFTS: 39

Spastic Paraplegia 75, Autosomal Recessive (SPG75)

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 75, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 75, Autosomal Recessive:

Name: Spastic Paraplegia 75, Autosomal Recessive 56 73 29 6
Spg75 56 12 58 73
Autosomal Recessive Spastic Paraplegia Type 75 12 58 17
Hereditary Spastic Paraplegia 75 12 15
Autosomal Recessive Spastic Paraplegia 75 12

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive spastic paraplegia type 75
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
slowly progressive
onset in early childhood
two unrelated families have been reported (last curated december 2015)


HPO:

31
spastic paraplegia 75, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Spastic Paraplegia 75, Autosomal Recessive

UniProtKB/Swiss-Prot : 73 Spastic paraplegia 75, 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. SPG75 is characterized by onset in early childhood and is associated with mild to moderate cognitive impairment.

MalaCards based summary : Spastic Paraplegia 75, Autosomal Recessive, also known as spg75, is related to central pontine myelinolysis and pelizaeus-merzbacher-like disease. An important gene associated with Spastic Paraplegia 75, Autosomal Recessive is MAG (Myelin Associated Glycoprotein), and among its related pathways/superpathways is Glial Cell Differentiation. Related phenotypes are intellectual disability and global developmental delay

Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the MAG gene on chromosome 19q13.

OMIM : 56 Spastic paraplegia-75 is an autosomal recessive, slowly progressive neurodegenerative disorder characterized by onset of spastic paraplegia and cognitive impairment in childhood (summary by Lossos et al., 2015). For a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A (270800). (616680)

Related Diseases for Spastic Paraplegia 75, 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 75, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 32)
# Related Disease Score Top Affiliating Genes
1 central pontine myelinolysis 10.2 MAG GJC2
2 pelizaeus-merzbacher-like disease 10.1 PLP1 GJC2
3 leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism 10.1 PLP1 GJC2
4 spastic paraplegia 62, autosomal recessive 10.1 PGAP1 ERLIN1
5 spastic ataxia 8 10.1 PLP1 GJC2
6 spastic paraplegia 45, autosomal recessive 10.1 PGAP1 ERLIN1
7 hypomyelinating leukoencephalopathy 10.1 PLP1 GJC2
8 leukodystrophy, hypomyelinating, 5 10.0 PLP1 GJC2
9 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 10.0 PLP1 GJC2
10 hereditary neuropathies 10.0 PLP1 MAG
11 leukodystrophy, hypomyelinating, 4 10.0 PLP1 GJC2
12 spastic paraplegia 27, autosomal recessive 10.0 SLC33A1 ERLIN1
13 spastic paraplegia 37, autosomal dominant 10.0 SLC33A1 ERLIN1
14 spastic paraplegia 13, autosomal dominant 10.0 SLC33A1 GJC2
15 niemann-pick disease, type a 10.0 PLP1 MAG
16 leukodystrophy, hypomyelinating, 2 10.0 PLP1 GJC2
17 spastic paraplegia 26, autosomal recessive 10.0 SLC33A1 PGAP1
18 niemann-pick disease 10.0 PLP1 MAG
19 optic neuritis 9.9 PLP1 MAG
20 hypomyelinating leukodystrophy 9.9 PLP1 GJC2
21 cerebral degeneration 9.9 PLP1 GJC2
22 spastic ataxia 9.8 MTPAP GJC2
23 pelizaeus-merzbacher disease 9.8 PLP1 MAG GJC2
24 leukodystrophy 9.8 PLP1 MAG GJC2
25 leukoencephalopathy with vanishing white matter 9.8 PLP1 GJC2
26 spastic paraplegia 2, x-linked 9.8 PLP1 PGAP1 GJC2
27 substance abuse 9.7 PLP1 MAG
28 motor neuron disease 9.7 PGAP1 MAG ERLIN1
29 metachromatic leukodystrophy 9.6 PLP1 MAG
30 spastic paraplegia 44, autosomal recessive 9.4 SLC33A1 PLP1 PGAP1 GJC2
31 paraplegia 9.4 SLC33A1 PLP1 GJC2 ERLIN1
32 hereditary spastic paraplegia 8.8 SLC33A1 PLP1 PGAP1 MAG GJC2 ERLIN1

Graphical network of the top 20 diseases related to Spastic Paraplegia 75, Autosomal Recessive:



Diseases related to Spastic Paraplegia 75, Autosomal Recessive

Symptoms & Phenotypes for Spastic Paraplegia 75, Autosomal Recessive

Human phenotypes related to Spastic Paraplegia 75, Autosomal Recessive:

58 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 dysmetria 58 31 hallmark (90%) Very frequent (99-80%) HP:0001310
4 spastic paraplegia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001258
5 impaired vibratory sensation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002495
6 babinski sign 58 31 hallmark (90%) Very frequent (99-80%) HP:0003487
7 distal lower limb amyotrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0008944
8 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
9 hyporeflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001265
10 astigmatism 58 31 frequent (33%) Frequent (79-30%) HP:0000483
11 generalized hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001290
12 hypermetropia 58 31 frequent (33%) Frequent (79-30%) HP:0000540
13 temporal optic disc pallor 58 31 frequent (33%) Frequent (79-30%) HP:0012511
14 titubation 58 31 occasional (7.5%) Occasional (29-5%) HP:0030187
15 glaucoma 31 occasional (7.5%) HP:0000501
16 ventriculomegaly 31 occasional (7.5%) HP:0002119
17 optic atrophy 31 HP:0000648
18 neonatal hypotonia 31 HP:0001319
19 cognitive impairment 31 HP:0100543
20 abnormal pyramidal sign 58 Very frequent (99-80%)
21 spasticity 58 Very frequent (99-80%)
22 peripheral neuropathy 31 HP:0009830
23 reduced visual acuity 31 HP:0007663
24 cerebellar atrophy 31 HP:0001272
25 spastic paraparesis 31 HP:0002313
26 spastic dysarthria 31 HP:0002464
27 corpus callosum atrophy 31 HP:0007371
28 areflexia of lower limbs 31 HP:0002522
29 hyporeflexia of lower limbs 31 HP:0002600

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
optic atrophy
nystagmus
astigmatism
hypermetropia
decreased visual acuity
more
Neurologic Peripheral Nervous System:
hyporeflexia, lower limbs
areflexia, lower limbs
impaired distal vibration sense
peripheral neuropathy, mild, adult-onset
decreased sensorimotor nerve conduction velocities

Head And Neck Ears:
delayed latency of brainstem auditory-evoked responses (1 family)

Neurologic Central Nervous System:
dysmetria
spastic paraparesis
spastic dysarthria
extensor plantar responses
delayed psychomotor development
more
Muscle Soft Tissue:
hypotonia, neonatal
distal muscle atrophy, lower limbs

Clinical features from OMIM:

616680

MGI Mouse Phenotypes related to Spastic Paraplegia 75, Autosomal Recessive:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.5 ERLIN1 GJC2 MAG MTPAP PGAP1 PLP1
2 nervous system MP:0003631 9.1 GJC2 MAG MTPAP PGAP1 PLP1 SLC33A1

Drugs & Therapeutics for Spastic Paraplegia 75, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 75, Autosomal Recessive

Genetic Tests for Spastic Paraplegia 75, Autosomal Recessive

Genetic tests related to Spastic Paraplegia 75, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Spastic Paraplegia 75, Autosomal Recessive 29 MAG

Anatomical Context for Spastic Paraplegia 75, Autosomal Recessive

Publications for Spastic Paraplegia 75, Autosomal Recessive

Articles related to Spastic Paraplegia 75, Autosomal Recessive:

# Title Authors PMID Year
1
Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorder. 6 56
26179919 2015
2
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. 6 56
24482476 2014
3
Hereditary Spastic Paraplegia Overview 6
20301682 2000

Variations for Spastic Paraplegia 75, Autosomal Recessive

ClinVar genetic disease variations for Spastic Paraplegia 75, Autosomal Recessive:

6 (show all 45) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MAG NM_002361.4(MAG):c.512_516AGCTG[3] (p.Trp174Ter)short repeat Pathogenic 488543 rs771777424 19:35790549-35790550 19:35299646-35299647
2 MAG NM_002361.4(MAG):c.1288T>G (p.Cys430Gly)SNV Pathogenic 120188 rs587777229 19:35800833-35800833 19:35309930-35309930
3 MAG NM_002361.4(MAG):c.399C>G (p.Ser133Arg)SNV Pathogenic 218187 rs2301600 19:35786868-35786868 19:35295965-35295965
4 MAG NM_002361.4(MAG):c.452C>T (p.Ala151Val)SNV Conflicting interpretations of pathogenicity 424686 rs144553163 19:35790493-35790493 19:35299590-35299590
5 MAG NM_002361.4(MAG):c.1117A>C (p.Ser373Arg)SNV Uncertain significance 424677 rs142375870 19:35793497-35793497 19:35302594-35302594
6 MAG NM_002361.4(MAG):c.1646C>T (p.Ser549Leu)SNV Uncertain significance 424680 rs767886169 19:35802850-35802850 19:35311947-35311947
7 MAG NM_002361.4(MAG):c.61C>T (p.His21Tyr)SNV Uncertain significance 452162 rs370825816 19:35786530-35786530 19:35295627-35295627
8 MAG NM_002361.4(MAG):c.947G>T (p.Arg316Leu)SNV Uncertain significance 542301 rs370453303 19:35791284-35791284 19:35300381-35300381
9 MAG NM_002361.4(MAG):c.668A>G (p.Asn223Ser)SNV Uncertain significance 475609 rs1471804208 19:35790709-35790709 19:35299806-35299806
10 MAG NM_002361.4(MAG):c.1324G>A (p.Val442Met)SNV Uncertain significance 548561 rs760644405 19:35800869-35800869 19:35309966-35309966
11 MAG NM_002361.4(MAG):c.319G>A (p.Val107Ile)SNV Uncertain significance 579541 rs186777043 19:35786788-35786788 19:35295885-35295885
12 MAG NM_002361.4(MAG):c.481G>C (p.Val161Leu)SNV Uncertain significance 568848 rs770946769 19:35790522-35790522 19:35299619-35299619
13 MAG NM_002361.4(MAG):c.646G>T (p.Gly216Cys)SNV Uncertain significance 575785 rs200984385 19:35790687-35790687 19:35299784-35299784
14 MAG NM_002361.4(MAG):c.1760G>A (p.Arg587Gln)SNV Uncertain significance 573743 rs201094395 19:35804236-35804236 19:35313333-35313333
15 MAG NM_002361.4(MAG):c.997G>A (p.Gly333Arg)SNV Uncertain significance 572360 rs199764089 19:35793377-35793377 19:35302474-35302474
16 MAG NM_002361.4(MAG):c.1719C>T (p.Ser573=)SNV Uncertain significance 568410 rs201985838 19:35804195-35804195 19:35313292-35313292
17 MAG NM_002361.4(MAG):c.1394G>A (p.Arg465His)SNV Uncertain significance 572016 rs147583558 19:35800939-35800939 19:35310036-35310036
18 MAG NM_002361.4(MAG):c.328G>T (p.Glu110Ter)SNV Uncertain significance 657878 19:35786797-35786797 19:35295894-35295894
19 MAG NM_002361.4(MAG):c.688G>A (p.Gly230Ser)SNV Uncertain significance 641864 19:35790729-35790729 19:35299826-35299826
20 MAG NM_002361.4(MAG):c.899A>G (p.Asp300Gly)SNV Uncertain significance 639292 19:35791236-35791236 19:35300333-35300333
21 MAG NM_002361.4(MAG):c.1058C>T (p.Pro353Leu)SNV Uncertain significance 654572 19:35793438-35793438 19:35302535-35302535
22 MAG NM_002361.4(MAG):c.1120G>A (p.Glu374Lys)SNV Uncertain significance 662100 19:35793500-35793500 19:35302597-35302597
23 MAG NM_002361.4(MAG):c.1265C>T (p.Ala422Val)SNV Uncertain significance 660792 19:35800810-35800810 19:35309907-35309907
24 MAG NM_002361.4(MAG):c.46+5C>ASNV Uncertain significance 663905 19:35786362-35786362 19:35295459-35295459
25 MAG NM_002361.4(MAG):c.1666G>A (p.Val556Ile)SNV Uncertain significance 808513 19:35802870-35802870 19:35311967-35311967
26 MAG NM_002361.4(MAG):c.216G>C (p.Val72=)SNV Likely benign 706192 19:35786685-35786685 19:35295782-35295782
27 MAG NM_002361.4(MAG):c.230G>A (p.Arg77His)SNV Likely benign 704757 19:35786699-35786699 19:35295796-35295796
28 MAG NM_002361.4(MAG):c.753C>G (p.Ala251=)SNV Likely benign 707298 19:35791090-35791090 19:35300187-35300187
29 MAG NM_002361.4(MAG):c.771G>A (p.Val257=)SNV Likely benign 707299 19:35791108-35791108 19:35300205-35300205
30 MAG NM_002361.4(MAG):c.1836G>A (p.Thr612=)SNV Likely benign 703792 19:35804312-35804312 19:35313409-35313409
31 MAG NM_002361.4(MAG):c.957G>C (p.Gly319=)SNV Likely benign 772528 19:35791294-35791294 19:35300391-35300391
32 MAG NM_002361.4(MAG):c.603_604delinsAA (p.Leu202Met)indel Likely benign 475608 rs36055167 19:35790644-35790645 19:35299741-35299742
33 MAG NM_002361.4(MAG):c.1344G>A (p.Ser448=)SNV Likely benign 542303 rs149838575 19:35800889-35800889 19:35309986-35309986
34 MAG NM_002361.4(MAG):c.905T>A (p.Val302Asp)SNV Likely benign 711281 19:35791242-35791242 19:35300339-35300339
35 MAG NM_002361.4(MAG):c.1842G>A (p.Thr614=)SNV Likely benign 752281 19:35804318-35804318 19:35313415-35313415
36 MAG NM_002361.4(MAG):c.1297G>T (p.Val433Leu)SNV Likely benign 800195 19:35800842-35800842 19:35309939-35309939
37 MAG NM_002361.4(MAG):c.1140G>A (p.Pro380=)SNV Benign 772706 19:35793520-35793520 19:35302617-35302617
38 MAG NM_002361.4(MAG):c.1647G>A (p.Ser549=)SNV Benign 772527 19:35802851-35802851 19:35311948-35311948
39 MAG NM_002361.4(MAG):c.1104G>A (p.Thr368=)SNV Benign 475606 rs140483946 19:35793484-35793484 19:35302581-35302581
40 MAG NM_002361.4(MAG):c.409A>G (p.Ile137Val)SNV Benign 542302 rs113328438 19:35786878-35786878 19:35295975-35295975
41 MAG NM_002361.4(MAG):c.228G>A (p.Ser76=)SNV Benign 475607 rs142334011 19:35786697-35786697 19:35295794-35295794
42 MAG NM_002361.4(MAG):c.855C>T (p.Ala285=)SNV Benign 706616 19:35791192-35791192 19:35300289-35300289
43 MAG NM_002361.4(MAG):c.1657A>C (p.Asn553His)SNV Benign 703976 19:35802861-35802861 19:35311958-35311958
44 MAG NM_002361.4(MAG):c.1799C>T (p.Ser600Leu)SNV Benign 703827 19:35804275-35804275 19:35313372-35313372
45 MAG NM_002361.4(MAG):c.47-4G>TSNV Benign 252776 rs147119099 19:35786512-35786512 19:35295609-35295609

UniProtKB/Swiss-Prot genetic disease variations for Spastic Paraplegia 75, Autosomal Recessive:

73
# Symbol AA change Variation ID SNP ID
1 MAG p.Ser133Arg VAR_076224 rs2301600

Expression for Spastic Paraplegia 75, Autosomal Recessive

Search GEO for disease gene expression data for Spastic Paraplegia 75, Autosomal Recessive.

Pathways for Spastic Paraplegia 75, Autosomal Recessive

Pathways related to Spastic Paraplegia 75, Autosomal Recessive according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 9.53 PLP1 MAG

GO Terms for Spastic Paraplegia 75, Autosomal Recessive

Cellular components related to Spastic Paraplegia 75, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.7 SLC33A1 PLP1 PGAP1 MAG GJC2 ERLIN1
2 paranode region of axon GO:0033270 8.96 MAG GJC2
3 myelin sheath GO:0043209 8.8 PLP1 MAG GJC2

Biological processes related to Spastic Paraplegia 75, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.26 SLC33A1 GJC2 ERLIN1 ANO10
2 central nervous system myelination GO:0022010 8.62 PLP1 MAG

Sources for Spastic Paraplegia 75, Autosomal Recessive

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