MCID: SPS213
MIFTS: 25

Spastic Paraplegia 75, Autosomal Recessive

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

Aliases & Classifications for Spastic Paraplegia 75, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 75, Autosomal Recessive:

Name: Spastic Paraplegia 75, Autosomal Recessive 57 75 29 6
Spg75 57 12 59 75
Autosomal Recessive Spastic Paraplegia Type 75 12 59
Autosomal Recessive Spastic Paraplegia 75 12
Hereditary Spastic Paraplegia 75 12

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive spastic paraplegia type 75
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
spastic paraplegia 75, autosomal recessive:
Onset and clinical course slow progression
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Spastic Paraplegia 75, Autosomal Recessive

UniProtKB/Swiss-Prot : 75 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, is also known as spg75. An important gene associated with Spastic Paraplegia 75, Autosomal Recessive is MAG (Myelin Associated Glycoprotein). Related phenotypes are nystagmus and intellectual disability

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

OMIM : 57 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 Spastic Paraplegia 5a, Autosomal Recessive
Spastic Paraplegia 20, Autosomal Recessive Spastic Paraplegia 6, Autosomal Dominant
Spastic Paraplegia 9a, Autosomal Dominant Spastic Paraplegia 8, Autosomal Dominant
Spastic Paraplegia 10, Autosomal Dominant Spastic Paraplegia 11, Autosomal Recessive
Spastic Paraplegia 12, Autosomal Dominant Spastic Paraplegia 14, Autosomal Recessive
Spastic Paraplegia 13, Autosomal Dominant Spastic Paraplegia 19, Autosomal Dominant
Spastic Paraplegia 7, Autosomal Recessive Spastic Paraplegia 24, Autosomal Recessive
Spastic Paraplegia 25, Autosomal Recessive Spastic Paraplegia 27, Autosomal Recessive
Spastic Paraplegia 26, Autosomal Recessive Spastic Paraplegia 28, Autosomal Recessive
Spastic Paraplegia 29, Autosomal Dominant Spastic Paraplegia 33, Autosomal Dominant
Spastic Paraplegia 31, Autosomal Dominant Spastic Paraplegia 30, Autosomal Recessive
Spastic Paraplegia 18, Autosomal Recessive Spastic Paraplegia 32, Autosomal Recessive
Spastic Paraplegia 37, Autosomal Dominant Spastic Paraplegia 39, Autosomal Recessive
Spastic Paraplegia 35, Autosomal Recessive Spastic Paraplegia 38, Autosomal Dominant
Spastic Paraplegia 42, Autosomal Dominant Spastic Paraplegia 50, Autosomal Recessive
Spastic Paraplegia 36, Autosomal Dominant Spastic Paraplegia 45, Autosomal Recessive
Spastic Paraplegia 44, Autosomal Recessive Spastic Paraplegia 41, Autosomal Dominant
Spastic Paraplegia 48, Autosomal Recessive Spastic Paraplegia 51, Autosomal Recessive
Spastic Paraplegia 47, Autosomal Recessive Spastic Paraplegia 52, Autosomal Recessive
Spastic Paraplegia 46, Autosomal Recessive Spastic Paraplegia 53, Autosomal Recessive
Spastic Paraplegia 56, Autosomal Recessive Spastic Paraplegia 49, Autosomal Recessive
Spastic Paraplegia 54, Autosomal Recessive Spastic Paraplegia 55, Autosomal Recessive
Spastic Paraplegia 43, Autosomal Recessive Spastic Paraplegia 79, Autosomal Recessive
Spastic Paraplegia 72, Autosomal Recessive Spastic Paraplegia 57, Autosomal Recessive
Spastic Paraplegia 62, Autosomal Recessive Spastic Paraplegia 64, Autosomal Recessive
Spastic Paraplegia 61, Autosomal Recessive Spastic Paraplegia 63, Autosomal Recessive
Spastic Paraplegia 73, Autosomal Dominant Spastic Paraplegia 74, Autosomal Recessive
Spastic Paraplegia 9b, Autosomal Recessive Spastic Paraplegia 75, Autosomal Recessive
Spastic Paraplegia 76, Autosomal Recessive Spastic Paraplegia 77, Autosomal Recessive
Spastic Paraplegia 78, Autosomal Recessive Hereditary Spastic Paraplegia
Hereditary Spastic Paraplegia 51 Hereditary Spastic Paraplegia 72
Spastic Paraplegia 4 Spastic Paraplegia 8
Spastic Paraplegia 11 Spastic Paraplegia 1
Spastic Paraplegia 10 Spastic Paraplegia 12
Spastic Paraplegia 13 Spastic Paraplegia 14
Spastic Paraplegia 15 Spastic Paraplegia 16
Spastic Paraplegia 17 Spastic Paraplegia 18
Spastic Paraplegia 19 Spastic Paraplegia 24
Spastic Paraplegia 25 Spastic Paraplegia 26
Spastic Paraplegia 29 Spastic Paraplegia 3
Spastic Paraplegia 31 Spastic Paraplegia 32
Spastic Paraplegia 39 Spastic Paraplegia 51
Spastic Paraplegia 5a Spastic Paraplegia 5b
Spastic Paraplegia 6 Spastic Paraplegia 9
Autosomal Recessive Spastic Paraplegia Type 60 Autosomal Recessive Spastic Paraplegia Type 59
Autosomal Recessive Spastic Paraplegia Type 68 Autosomal Recessive Spastic Paraplegia Type 69
Autosomal Recessive Spastic Paraplegia Type 70 Autosomal Recessive Spastic Paraplegia Type 71
Autosomal Recessive Spastic Paraplegia Type 66 Autosomal Recessive Spastic Paraplegia Type 67

Symptoms & Phenotypes for Spastic Paraplegia 75, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
optic atrophy
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 dysarthria
spastic paraparesis
extensor plantar responses
delayed psychomotor development
more
Muscle Soft Tissue:
hypotonia, neonatal
distal muscle atrophy, lower limbs


Clinical features from OMIM:

616680

Human phenotypes related to Spastic Paraplegia 75, Autosomal Recessive:

59 32 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
2 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
3 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
4 babinski sign 59 32 hallmark (90%) Very frequent (99-80%) HP:0003487
5 dysmetria 59 32 hallmark (90%) Very frequent (99-80%) HP:0001310
6 hyporeflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001265
7 spastic paraplegia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001258
8 astigmatism 59 32 frequent (33%) Frequent (79-30%) HP:0000483
9 generalized hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001290
10 impaired vibratory sensation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002495
11 distal lower limb amyotrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0008944
12 hypermetropia 59 32 frequent (33%) Frequent (79-30%) HP:0000540
13 temporal optic disc pallor 59 32 frequent (33%) Frequent (79-30%) HP:0012511
14 titubation 59 32 occasional (7.5%) Occasional (29-5%) HP:0030187
15 spasticity 59 Very frequent (99-80%)
16 abnormal pyramidal signs 59 Very frequent (99-80%)
17 optic atrophy 32 HP:0000648
18 neonatal hypotonia 32 HP:0001319
19 cognitive impairment 32 HP:0100543
20 peripheral neuropathy 32 HP:0009830
21 areflexia of lower limbs 32 HP:0002522
22 reduced visual acuity 32 HP:0007663
23 ventriculomegaly 32 occasional (7.5%) HP:0002119
24 glaucoma 32 occasional (7.5%) HP:0000501
25 cerebellar atrophy 32 HP:0001272
26 corpus callosum atrophy 32 HP:0007371
27 spastic dysarthria 32 HP:0002464
28 spastic paraparesis 32 HP:0002313
29 hyporeflexia of lower limbs 32 HP:0002600

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

Variations for Spastic Paraplegia 75, Autosomal Recessive

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

75
# Symbol AA change Variation ID SNP ID
1 MAG p.Ser133Arg VAR_076224 rs2301600

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

6
(show all 30)
# Gene Variation Type Significance SNP ID Assembly Location
1 MAG NM_080600.2(MAG): c.1288T> G (p.Cys430Gly) single nucleotide variant Pathogenic rs587777229 GRCh38 Chromosome 19, 35309930: 35309930
2 MAG NM_080600.2(MAG): c.1288T> G (p.Cys430Gly) single nucleotide variant Pathogenic rs587777229 GRCh37 Chromosome 19, 35800833: 35800833
3 MAG NM_080600.2(MAG): c.399C> G (p.Ser133Arg) single nucleotide variant Pathogenic rs2301600 GRCh38 Chromosome 19, 35295965: 35295965
4 MAG NM_080600.2(MAG): c.399C> G (p.Ser133Arg) single nucleotide variant Pathogenic rs2301600 GRCh37 Chromosome 19, 35786868: 35786868
5 MAG NM_080600.2(MAG): c.47-4G> T single nucleotide variant Benign rs147119099 GRCh37 Chromosome 19, 35786512: 35786512
6 MAG NM_080600.2(MAG): c.47-4G> T single nucleotide variant Benign rs147119099 GRCh38 Chromosome 19, 35295609: 35295609
7 MAG NM_002361.3(MAG): c.452C> T (p.Ala151Val) single nucleotide variant Conflicting interpretations of pathogenicity rs144553163 GRCh38 Chromosome 19, 35299590: 35299590
8 MAG NM_002361.3(MAG): c.452C> T (p.Ala151Val) single nucleotide variant Conflicting interpretations of pathogenicity rs144553163 GRCh37 Chromosome 19, 35790493: 35790493
9 MAG NM_002361.3(MAG): c.1117A> C (p.Ser373Arg) single nucleotide variant Uncertain significance rs142375870 GRCh38 Chromosome 19, 35302594: 35302594
10 MAG NM_002361.3(MAG): c.1117A> C (p.Ser373Arg) single nucleotide variant Uncertain significance rs142375870 GRCh37 Chromosome 19, 35793497: 35793497
11 MAG NM_002361.3(MAG): c.61C> T (p.His21Tyr) single nucleotide variant Uncertain significance rs370825816 GRCh37 Chromosome 19, 35786530: 35786530
12 MAG NM_002361.3(MAG): c.61C> T (p.His21Tyr) single nucleotide variant Uncertain significance rs370825816 GRCh38 Chromosome 19, 35295627: 35295627
13 MAG NM_002361.3(MAG): c.228G> A (p.Ser76=) single nucleotide variant Benign rs142334011 GRCh38 Chromosome 19, 35295794: 35295794
14 MAG NM_002361.3(MAG): c.228G> A (p.Ser76=) single nucleotide variant Benign rs142334011 GRCh37 Chromosome 19, 35786697: 35786697
15 MAG NM_002361.3(MAG): c.668A> G (p.Asn223Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 35299806: 35299806
16 MAG NM_002361.3(MAG): c.668A> G (p.Asn223Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 35790709: 35790709
17 MAG NM_002361.3(MAG): c.1104G> A (p.Thr368=) single nucleotide variant Benign rs140483946 GRCh38 Chromosome 19, 35302581: 35302581
18 MAG NM_002361.3(MAG): c.1104G> A (p.Thr368=) single nucleotide variant Benign rs140483946 GRCh37 Chromosome 19, 35793484: 35793484
19 MAG NM_002361.3(MAG): c.603_604delGCinsAA (p.Leu202Met) indel Likely benign rs36055167 GRCh37 Chromosome 19, 35790644: 35790645
20 MAG NM_002361.3(MAG): c.603_604delGCinsAA (p.Leu202Met) indel Likely benign rs36055167 GRCh38 Chromosome 19, 35299741: 35299742
21 MAG NM_080600.2(MAG): c.508_509insCTGAG (p.Trp174Terfs) insertion Pathogenic rs771777424 GRCh37 Chromosome 19, 35790549: 35790550
22 MAG NM_080600.2(MAG): c.508_509insCTGAG (p.Trp174Terfs) insertion Pathogenic rs771777424 GRCh38 Chromosome 19, 35299646: 35299647
23 MAG NM_002361.3(MAG): c.18A> G (p.Ala6=) single nucleotide variant Likely benign rs147354231 GRCh37 Chromosome 19, 35786329: 35786329
24 MAG NM_002361.3(MAG): c.18A> G (p.Ala6=) single nucleotide variant Likely benign rs147354231 GRCh38 Chromosome 19, 35295426: 35295426
25 MAG NM_002361.3(MAG): c.947G> T (p.Arg316Leu) single nucleotide variant Uncertain significance rs370453303 GRCh37 Chromosome 19, 35791284: 35791284
26 MAG NM_002361.3(MAG): c.947G> T (p.Arg316Leu) single nucleotide variant Uncertain significance rs370453303 GRCh38 Chromosome 19, 35300381: 35300381
27 MAG NM_002361.3(MAG): c.409A> G (p.Ile137Val) single nucleotide variant Benign rs113328438 GRCh37 Chromosome 19, 35786878: 35786878
28 MAG NM_002361.3(MAG): c.409A> G (p.Ile137Val) single nucleotide variant Benign rs113328438 GRCh38 Chromosome 19, 35295975: 35295975
29 MAG NM_002361.3(MAG): c.1344G> A (p.Ser448=) single nucleotide variant Likely benign rs149838575 GRCh37 Chromosome 19, 35800889: 35800889
30 MAG NM_002361.3(MAG): c.1344G> A (p.Ser448=) single nucleotide variant Likely benign rs149838575 GRCh38 Chromosome 19, 35309986: 35309986

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

GO Terms for Spastic Paraplegia 75, Autosomal Recessive

Sources for Spastic Paraplegia 75, Autosomal Recessive

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