SPG75
MCID: SPS213
MIFTS: 43

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 osteosclerotic myeloma and asymmetric motor neuropathy. An important gene associated with Spastic Paraplegia 75, Autosomal Recessive is MAG (Myelin Associated Glycoprotein), and among its related pathways/superpathways is DNA Damage. Affiliated tissues include eye, bone and skin, and 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 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 Spastic Paraplegia 80, Autosomal Dominant
Hereditary Spastic Paraplegia 23 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 47)
# Related Disease Score Top Affiliating Genes
1 osteosclerotic myeloma 10.4 MYOM2 MAG
2 asymmetric motor neuropathy 10.4 MYOM2 MAG
3 mononeuritis of upper limb and mononeuritis multiplex 10.3 MYOM2 MAG
4 oculomotor apraxia 10.3 SETX APTX
5 mononeuritis multiplex 10.3 MYOM2 MAG
6 brugada syndrome 9 10.3 MTPAP ANO10
7 rare ataxia 10.3 SACS MRE11
8 waldenstroem's macroglobulinemia 10.3 MYOM2 MAG
9 spastic ataxia 10.2 SACS MTPAP AFG3L2
10 coenzyme q10 deficiency, primary, 1 10.2 COQ8A APTX
11 solitary osseous plasmacytoma 10.1 NCAM1 MYOM2
12 motor peripheral neuropathy 10.1 SETX MAG APTX
13 coenzyme q10 deficiency, primary, 4 10.1 SETX COQ8A APTX
14 lig4 syndrome 10.1 TDP1 MRE11 APTX
15 ataxia-oculomotor apraxia 3 10.1 TDP1 SETX APTX
16 spinocerebellar ataxia type 1 with axonal neuropathy 10.0 TDP1 SETX APTX
17 spastic paraplegia 7, autosomal recessive 10.0 SACS AFG3L2
18 spinocerebellar degeneration 10.0 TTPA POLG
19 monoclonal gammopathy of uncertain significance 10.0 NCAM1 MYOM2 MAG
20 blood protein disease 10.0 NCAM1 MYOM2 MAG
21 tabes dorsalis 10.0 TTPA FXN
22 coenzyme q10 deficiency disease 10.0 POLG COQ8A APTX
23 smoldering myeloma 10.0 NCAM1 MYOM2
24 axonal neuropathy 9.9 TDP1 SETX POLG
25 mononeuropathy 9.9 MYOM2 MAG
26 spastic ataxia, charlevoix-saguenay type 9.8 TTPA SETX SACS APTX
27 neuropathy 9.7 TDP1 SETX SACS POLG
28 hereditary spastic paraplegia 9.7 SETX SACS MAG AFG3L2
29 mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance 9.7 TTPA FXN COQ8A APTX
30 refsum disease, classic 9.6 TTPA SACS FXN APTX
31 sensory peripheral neuropathy 9.6 POLG MAG FXN FLVCR1
32 spinocerebellar ataxia 29 9.6 TTPA SETX FXN AFG3L2
33 marinesco-sjogren syndrome 9.5 TTPA SIL1 COQ8A APTX
34 mitochondrial dna depletion syndrome 7 9.5 SACS POLG FXN APTX
35 mitochondrial metabolism disease 9.4 POLG FXN COQ8A APTX
36 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 9.4 TTPA SETX SACS FXN APTX
37 dystonia 9.3 TTPA SETX POLG APTX AFG3L2
38 kearns-sayre syndrome 9.2 POLG MAG FXN COQ8A APTX AFG3L2
39 vitamin e, familial isolated deficiency of 9.2 TTPA SETX SACS FXN COQ8A APTX
40 friedreich ataxia 9.1 TTPA SETX POLG FXN APTX
41 peripheral nervous system disease 9.0 TDP1 SACS POLG MYOM2 MAG FXN
42 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 8.7 TTPA TDP1 SETX SACS MRE11 FXN
43 autosomal recessive cerebellar ataxia 8.3 TTPA TDP1 SYNE1 SETX SACS MRE11
44 autosomal dominant cerebellar ataxia 8.1 TTPA TDP1 SETX SACS POLG GRM1
45 cerebellar disease 7.9 TTPA SYNE1 SETX SACS POLG GRM1
46 hereditary ataxia 7.8 TTPA TDP1 SIL1 SETX SACS GRM1
47 aceruloplasminemia 7.6 TTPA SYNE1 SETX SACS POLG GRM1

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 babinski sign 58 31 hallmark (90%) Very frequent (99-80%) HP:0003487
4 dysmetria 58 31 hallmark (90%) Very frequent (99-80%) HP:0001310
5 spastic paraplegia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001258
6 impaired vibratory sensation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002495
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 generalized hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001290
10 hyporeflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001265
11 astigmatism 58 31 frequent (33%) Frequent (79-30%) HP:0000483
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 ventriculomegaly 31 occasional (7.5%) HP:0002119
16 glaucoma 31 occasional (7.5%) HP:0000501
17 spasticity 58 Very frequent (99-80%)
18 abnormal pyramidal sign 58 Very frequent (99-80%)
19 neonatal hypotonia 31 HP:0001319
20 optic atrophy 31 HP:0000648
21 cognitive impairment 31 HP:0100543
22 peripheral neuropathy 31 HP:0009830
23 areflexia of lower limbs 31 HP:0002522
24 reduced visual acuity 31 HP:0007663
25 cerebellar atrophy 31 HP:0001272
26 corpus callosum atrophy 31 HP:0007371
27 spastic paraparesis 31 HP:0002313
28 spastic dysarthria 31 HP:0002464
29 hyporeflexia of lower limbs 31 HP:0002600

Symptoms via clinical synopsis from OMIM:

56
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 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

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.15 NCAM1
2 Decreased viability GR00221-A-1 10.15 COQ8A FXN SYT14
3 Decreased viability GR00221-A-2 10.15 SYT14
4 Decreased viability GR00221-A-3 10.15 COQ8A
5 Decreased viability GR00221-A-4 10.15 SYT14
6 Decreased viability GR00240-S-1 10.15 MYOM2
7 Decreased viability GR00301-A 10.15 FXN
8 Decreased viability GR00381-A-1 10.15 ANO10 COQ8A
9 Decreased viability GR00402-S-2 10.15 AFG3L2 ANO10 APTX COQ8A FLVCR1 FXN
10 no effect GR00402-S-1 9.62 AFG3L2 ANO10 APTX COQ8A FLVCR1 FXN

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.03 AFG3L2 COQ8A FXN GRM1 MAG MRE11
2 homeostasis/metabolism MP:0005376 9.97 ANO10 APTX COQ8A FLVCR1 FXN GRM1
3 muscle MP:0005369 9.5 AFG3L2 COQ8A FXN GRM1 POLG SYNE1
4 nervous system MP:0003631 9.44 AFG3L2 COQ8A FXN GRM1 MAG MRE11

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

MalaCards organs/tissues related to Spastic Paraplegia 75, Autosomal Recessive:

40
Eye, Bone, Skin

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. 56 6
26179919 2015
2
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. 56 6
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 23) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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.399C>G (p.Ser133Arg)SNV Pathogenic 218187 rs2301600 19:35786868-35786868 19:35295965-35295965
3 MAG NM_002361.4(MAG):c.1288T>G (p.Cys430Gly)SNV Pathogenic 120188 rs587777229 19:35800833-35800833 19:35309930-35309930
4 MAG NM_002361.4(MAG):c.1117A>C (p.Ser373Arg)SNV Uncertain significance 424677 rs142375870 19:35793497-35793497 19:35302594-35302594
5 MAG NM_002361.4(MAG):c.1646C>T (p.Ser549Leu)SNV Uncertain significance 424680 rs767886169 19:35802850-35802850 19:35311947-35311947
6 MAG NM_002361.4(MAG):c.61C>T (p.His21Tyr)SNV Uncertain significance 452162 rs370825816 19:35786530-35786530 19:35295627-35295627
7 MAG NM_002361.4(MAG):c.668A>G (p.Asn223Ser)SNV Uncertain significance 475609 rs1471804208 19:35790709-35790709 19:35299806-35299806
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.1324G>A (p.Val442Met)SNV Uncertain significance 548561 rs760644405 19:35800869-35800869 19:35309966-35309966
10 MAG NM_002361.4(MAG):c.319G>A (p.Val107Ile)SNV Uncertain significance 579541 rs186777043 19:35786788-35786788 19:35295885-35295885
11 MAG NM_002361.4(MAG):c.481G>C (p.Val161Leu)SNV Uncertain significance 568848 rs770946769 19:35790522-35790522 19:35299619-35299619
12 MAG NM_002361.4(MAG):c.646G>T (p.Gly216Cys)SNV Uncertain significance 575785 rs200984385 19:35790687-35790687 19:35299784-35299784
13 MAG NM_002361.4(MAG):c.1760G>A (p.Arg587Gln)SNV Uncertain significance 573743 rs201094395 19:35804236-35804236 19:35313333-35313333
14 MAG NM_002361.4(MAG):c.997G>A (p.Gly333Arg)SNV Uncertain significance 572360 rs199764089 19:35793377-35793377 19:35302474-35302474
15 MAG NM_002361.4(MAG):c.1719C>T (p.Ser573=)SNV Uncertain significance 568410 rs201985838 19:35804195-35804195 19:35313292-35313292
16 MAG NM_002361.4(MAG):c.1394G>A (p.Arg465His)SNV Uncertain significance 572016 rs147583558 19:35800939-35800939 19:35310036-35310036
17 MAG NM_002361.4(MAG):c.328G>T (p.Glu110Ter)SNV Uncertain significance 657878 19:35786797-35786797 19:35295894-35295894
18 MAG NM_002361.4(MAG):c.688G>A (p.Gly230Ser)SNV Uncertain significance 641864 19:35790729-35790729 19:35299826-35299826
19 MAG NM_002361.4(MAG):c.899A>G (p.Asp300Gly)SNV Uncertain significance 639292 19:35791236-35791236 19:35300333-35300333
20 MAG NM_002361.4(MAG):c.1058C>T (p.Pro353Leu)SNV Uncertain significance 654572 19:35793438-35793438 19:35302535-35302535
21 MAG NM_002361.4(MAG):c.1120G>A (p.Glu374Lys)SNV Uncertain significance 662100 19:35793500-35793500 19:35302597-35302597
22 MAG NM_002361.4(MAG):c.1265C>T (p.Ala422Val)SNV Uncertain significance 660792 19:35800810-35800810 19:35309907-35309907
23 MAG NM_002361.4(MAG):c.46+5C>ASNV Uncertain significance 663905 19:35786362-35786362 19:35295459-35295459

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 11.4 TDP1 POLG MRE11 APTX

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 mitochondrion GO:0005739 9.23 SACS POLG MYOM2 MTPAP FXN FLVCR1

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

# Name GO ID Score Top Affiliating Genes
1 DNA repair GO:0006281 9.62 TDP1 SETX MRE11 APTX
2 protein autoprocessing GO:0016540 9.26 FXN AFG3L2
3 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.26 TDP1 POLG MRE11 APTX
4 single strand break repair GO:0000012 9.16 TDP1 APTX
5 double-strand break repair GO:0006302 8.92 TDP1 SETX MRE11 APTX

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

# Name GO ID Score Top Affiliating Genes
1 double-stranded DNA binding GO:0003690 9.13 TDP1 MRE11 APTX
2 3'-5' exonuclease activity GO:0008408 8.62 POLG MRE11

Sources for Spastic Paraplegia 75, Autosomal Recessive

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