MCID: SPS151
MIFTS: 36

Spastic Paraplegia 11, Autosomal Recessive

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

Aliases & Classifications for Spastic Paraplegia 11, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 11, Autosomal Recessive:

Name: Spastic Paraplegia 11, Autosomal Recessive 57 75 29 13 6 73
Spg11 57 12 59 75
Hsp-Tcc 57 12 75
Spastic Paraplegia-Intellectual Disability-Thin Corpus Callosum Syndrome 12 59
Autosomal Recessive Spastic Paraplegia Type 11 12 59
Hereditary Spastic Paraplegia 11 12 15
Nakamura-Osame Syndrome 12 59
Spastic Paraplegia, Autosomal Recessive, with Mental Impairment and Thin Corpus Callosum 57
Autosomal Recessive Spastic Paraplegia with Mental Impairment and Thin Corpus Callosum 12
Spastic Paraplegia Autosomal Recessive with Mental Impairment and Thin Corpus Callosum 75
Spastic Paraplegia, Autosomal Recessive, Complicated, with Thin Corpus Callosum 57
Autosomal Recessive Spastic Paraplegia Complicated with Thin Corpus Callosum 12
Spastic Paraplegia Autosomal Recessive Complicated with Thin Corpus Callosum 75
Autosomal Recessive Spastic Paraplegia with Thinning of Corpus Callosum 75
Paraplegia, Spastic, Autosomal Recessive, Type 11 40
Autosomal Recessive Spastic Paraplegia 11 12
Nakamura Osame Syndrome 73
Arhsp-Tcc 75

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive spastic paraplegia type 11
Inheritance: Autosomal recessive;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
childhood onset has been reported
onset usually in early adolescence
adult onset has been reported (age 50 years)
loss of ambulation within 10 years of onset
some patients do not have thin corpus callosum
several forms of autosomal recessive spastic paraplegia (see )


HPO:

32
spastic paraplegia 11, autosomal recessive:
Onset and clinical course adult onset childhood onset progressive
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Spastic Paraplegia 11, Autosomal Recessive

UniProtKB/Swiss-Prot : 75 Spastic paraplegia 11, 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.

MalaCards based summary : Spastic Paraplegia 11, Autosomal Recessive, also known as spg11, is related to spastic paraplegia 11 and amyotrophic lateral sclerosis type 5, and has symptoms including ataxia, urgency of micturition and abnormal pyramidal signs. An important gene associated with Spastic Paraplegia 11, Autosomal Recessive is SPG11 (SPG11, Spatacsin Vesicle Trafficking Associated). Related phenotypes are nystagmus and intellectual disability

OMIM : 57 Hereditary spastic paraplegia (SPG or HSP) is characterized by progressive weakness and spasticity of the lower limbs due to degeneration of corticospinal axons. SPG11 is a form of complicated SPG, in that it has neurologic features in addition to spasticity. For a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A (270800). (604360)

Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the SPG11 gene on chromosome 15q21.

Related Diseases for Spastic Paraplegia 11, 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

Diseases related to Spastic Paraplegia 11, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 11 33.0 EIF3J SPG11
2 amyotrophic lateral sclerosis type 5 10.6 SPG11 SPG21
3 spastic paraplegia 48, autosomal recessive 10.5 SPG11 SPG21
4 mast syndrome 10.5 SPG11 SPG21
5 spastic paraplegia 24, autosomal recessive 10.5 SPG21 SPG7
6 spastic paraplegia 35, autosomal recessive 10.5 SPG11 SPG21
7 spastic paraplegia 49, autosomal recessive 10.3 SPG11 SPG7
8 spastic paraplegia 32, autosomal recessive 10.3 SPG11 SPG21 SPG7
9 spastic paraplegia 15, autosomal recessive 10.3 SPG11 SPG21 SPG7
10 charcot-marie-tooth disease, axonal, type 2e 10.2 SLC12A6 SPG11 SPG21
11 spastic paraplegia 4, autosomal dominant 10.1 SPG11 SPG7
12 paraplegia 9.9 SPG11 SPG21 SPG7
13 spastic paraparesis 9.9 SPG11 SPG7
14 hereditary spastic paraplegia 9.9 KIF13B SPG11 SPG21 SPG7

Graphical network of the top 20 diseases related to Spastic Paraplegia 11, Autosomal Recessive:



Diseases related to Spastic Paraplegia 11, Autosomal Recessive

Symptoms & Phenotypes for Spastic Paraplegia 11, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

57
Growth Weight:
obesity

Skeletal Feet:
pes cavus

Muscle Soft Tissue:
amyotrophy
muscle atrophy, neurogenic
atrophy of the thenar and hypothenar muscles

Head And Neck Eyes:
nystagmus, gaze-evoked
pigmented macular degeneration, adult-onset
retinal degeneration, adult-onset
decreased visual acuity, adult-onset

Neurologic Central Nervous System:
ataxia
dysarthria
hyperreflexia
dysphagia
lower limb spasticity
more
Genitourinary Bladder:
urinary incontinence
urinary urgency
sphincter disturbances

Neurologic Peripheral Nervous System:
decreased vibratory sense in the lower limbs
peripheral motor and sensory neuropathy, distal
nerve biopsy shows loss of myelinated fibers


Clinical features from OMIM:

604360

Human phenotypes related to Spastic Paraplegia 11, Autosomal Recessive:

59 32 (show all 42)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000639
2 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
3 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
4 ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001251
5 dysarthria 59 32 hallmark (90%) Very frequent (99-80%) HP:0001260
6 gait disturbance 59 32 hallmark (90%) Very frequent (99-80%) HP:0001288
7 hyperreflexia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001347
8 peripheral neuropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0009830
9 reduced tendon reflexes 59 32 occasional (7.5%) Occasional (29-5%) HP:0001315
10 ventriculomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002119
11 cerebral cortical atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0002120
12 mental deterioration 59 32 hallmark (90%) Very frequent (99-80%) HP:0001268
13 saccadic smooth pursuit 59 32 hallmark (90%) Very frequent (99-80%) HP:0001152
14 spastic paraplegia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001258
15 aplasia/hypoplasia of the corpus callosum 59 32 hallmark (90%) Very frequent (99-80%) HP:0007370
16 agenesis of corpus callosum 32 HP:0001274
17 obesity 32 HP:0001513
18 dysphagia 32 HP:0002015
19 visual impairment 32 HP:0000505
20 sensory neuropathy 32 HP:0000763
21 specific learning disability 32 HP:0001328
22 babinski sign 32 HP:0003487
23 pes cavus 32 HP:0001761
24 urinary bladder sphincter dysfunction 32 HP:0002839
25 macular degeneration 32 HP:0000608
26 lower limb spasticity 32 HP:0002061
27 impaired vibration sensation in the lower limbs 32 HP:0002166
28 ankle clonus 32 HP:0011448
29 spastic gait 32 HP:0002064
30 degeneration of the lateral corticospinal tracts 32 HP:0002314
31 thenar muscle atrophy 32 HP:0003393
32 urinary incontinence 32 HP:0000020
33 hypoplasia of the corpus callosum 32 HP:0002079
34 abnormality of the periventricular white matter 32 HP:0002518
35 lower limb muscle weakness 32 HP:0007340
36 decreased number of peripheral myelinated nerve fibers 32 HP:0003380
37 gaze-evoked nystagmus 32 HP:0000640
38 distal peripheral sensory neuropathy 32 HP:0007067
39 urinary urgency 32 HP:0000012
40 tip-toe gait 32 HP:0030051
41 motor polyneuropathy 32 HP:0007178
42 knee clonus 32 HP:0011449

UMLS symptoms related to Spastic Paraplegia 11, Autosomal Recessive:


ataxia, urgency of micturition, abnormal pyramidal signs

Drugs & Therapeutics for Spastic Paraplegia 11, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 11, Autosomal Recessive

Genetic Tests for Spastic Paraplegia 11, Autosomal Recessive

Genetic tests related to Spastic Paraplegia 11, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Spastic Paraplegia 11, Autosomal Recessive 29 SPG11

Anatomical Context for Spastic Paraplegia 11, Autosomal Recessive

Publications for Spastic Paraplegia 11, Autosomal Recessive

Articles related to Spastic Paraplegia 11, Autosomal Recessive:

# Title Authors Year
1
Clinical variability and L-Dopa responsive Parkinsonism in hereditary spastic paraplegia 11. ( 22893306 )
2012

Variations for Spastic Paraplegia 11, Autosomal Recessive

UniProtKB/Swiss-Prot genetic disease variations for Spastic Paraplegia 11, Autosomal Recessive:

75
# Symbol AA change Variation ID SNP ID
1 SPG11 p.Phe1349Ile VAR_058417

ClinVar genetic disease variations for Spastic Paraplegia 11, Autosomal Recessive:

6
(show top 50) (show all 738)
# Gene Variation Type Significance SNP ID Assembly Location
1 SPG11 NM_025137.3(SPG11): c.6100C> T (p.Arg2034Ter) single nucleotide variant Pathogenic rs118203963 GRCh37 Chromosome 15, 44865850: 44865850
2 SPG11 NM_025137.3(SPG11): c.6100C> T (p.Arg2034Ter) single nucleotide variant Pathogenic rs118203963 GRCh38 Chromosome 15, 44573652: 44573652
3 SPG11 NM_025137.3(SPG11): c.529_533delATATT (p.Ile177Serfs) deletion Pathogenic rs312262716 GRCh37 Chromosome 15, 44951411: 44951415
4 SPG11 NM_025137.3(SPG11): c.529_533delATATT (p.Ile177Serfs) deletion Pathogenic rs312262716 GRCh38 Chromosome 15, 44659213: 44659217
5 SPG11 NM_025137.3(SPG11): c.118C> T (p.Gln40Ter) single nucleotide variant Pathogenic rs267607084 GRCh37 Chromosome 15, 44955728: 44955728
6 SPG11 NM_025137.3(SPG11): c.118C> T (p.Gln40Ter) single nucleotide variant Pathogenic rs267607084 GRCh38 Chromosome 15, 44663530: 44663530
7 SPG11 NM_025137.3(SPG11): c.733_734delAT (p.Met245Valfs) deletion Pathogenic rs312262720 GRCh37 Chromosome 15, 44949428: 44949429
8 SPG11 NM_025137.3(SPG11): c.733_734delAT (p.Met245Valfs) deletion Pathogenic rs312262720 GRCh38 Chromosome 15, 44657230: 44657231
9 SPG11 NM_025137.3(SPG11): c.2472_2473insT (p.Lys825Terfs) insertion Pathogenic rs312262744 GRCh37 Chromosome 15, 44914104: 44914105
10 SPG11 NM_025137.3(SPG11): c.2472_2473insT (p.Lys825Terfs) insertion Pathogenic rs312262744 GRCh38 Chromosome 15, 44621906: 44621907
11 SPG11 NM_025137.3(SPG11): c.442+1G> C single nucleotide variant Pathogenic rs312262715 GRCh37 Chromosome 15, 44952629: 44952629
12 SPG11 NM_025137.3(SPG11): c.442+1G> C single nucleotide variant Pathogenic rs312262715 GRCh38 Chromosome 15, 44660431: 44660431
13 SPG11 NM_025137.3(SPG11): c.7152-1G> C single nucleotide variant Likely pathogenic rs200079802 GRCh37 Chromosome 15, 44855500: 44855500
14 SPG11 NM_025137.3(SPG11): c.7152-1G> C single nucleotide variant Likely pathogenic rs200079802 GRCh38 Chromosome 15, 44563302: 44563302
15 SPG11 NM_025137.3(SPG11): c.5623C> T (p.Gln1875Ter) single nucleotide variant Pathogenic rs141848292 GRCh37 Chromosome 15, 44876255: 44876255
16 SPG11 NM_025137.3(SPG11): c.5623C> T (p.Gln1875Ter) single nucleotide variant Pathogenic rs141848292 GRCh38 Chromosome 15, 44584057: 44584057
17 SPG11 NM_025137.3(SPG11): c.3075dupA (p.Glu1026Argfs) duplication Pathogenic rs312262752 GRCh37 Chromosome 15, 44905698: 44905698
18 SPG11 NM_025137.3(SPG11): c.3075dupA (p.Glu1026Argfs) duplication Pathogenic rs312262752 GRCh38 Chromosome 15, 44613507: 44613507
19 SPG11 NM_025137.3(SPG11): c.1203delA (p.Asp402Ilefs) deletion Pathogenic rs312262722 GRCh37 Chromosome 15, 44943942: 44943942
20 SPG11 NM_025137.3(SPG11): c.1203delA (p.Asp402Ilefs) deletion Pathogenic rs312262722 GRCh38 Chromosome 15, 44651744: 44651744
21 SPG11 NM_025137.3(SPG11): c.1235C> G (p.Ser412Ter) single nucleotide variant Pathogenic/Likely pathogenic rs312262723 GRCh37 Chromosome 15, 44943910: 44943910
22 SPG11 NM_025137.3(SPG11): c.1235C> G (p.Ser412Ter) single nucleotide variant Pathogenic/Likely pathogenic rs312262723 GRCh38 Chromosome 15, 44651712: 44651712
23 SPG11 NM_025137.3(SPG11): c.1282A> T (p.Lys428Ter) single nucleotide variant Pathogenic rs312262724 GRCh37 Chromosome 15, 44943863: 44943863
24 SPG11 NM_025137.3(SPG11): c.1282A> T (p.Lys428Ter) single nucleotide variant Pathogenic rs312262724 GRCh38 Chromosome 15, 44651665: 44651665
25 SPG11 NM_025137.3(SPG11): c.1457-2A> G single nucleotide variant Pathogenic rs312262726 GRCh37 Chromosome 15, 44941211: 44941211
26 SPG11 NM_025137.3(SPG11): c.1457-2A> G single nucleotide variant Pathogenic rs312262726 GRCh38 Chromosome 15, 44649013: 44649013
27 SPG11 NM_025137.3(SPG11): c.1471_1472delCT (p.Leu491Aspfs) deletion Pathogenic rs312262727 GRCh37 Chromosome 15, 44941194: 44941195
28 SPG11 NM_025137.3(SPG11): c.1471_1472delCT (p.Leu491Aspfs) deletion Pathogenic rs312262727 GRCh38 Chromosome 15, 44648996: 44648997
29 SPG11 NM_025137.3(SPG11): c.1549_1550delCT (p.Cys518Serfs) deletion Pathogenic rs312262729 GRCh37 Chromosome 15, 44941116: 44941117
30 SPG11 NM_025137.3(SPG11): c.1549_1550delCT (p.Cys518Serfs) deletion Pathogenic rs312262729 GRCh38 Chromosome 15, 44648918: 44648919
31 SPG11 NM_025137.3(SPG11): c.1550_1551delTT (p.Cys518Serfs) deletion Pathogenic rs312262730 GRCh37 Chromosome 15, 44941115: 44941116
32 SPG11 NM_025137.3(SPG11): c.1550_1551delTT (p.Cys518Serfs) deletion Pathogenic rs312262730 GRCh38 Chromosome 15, 44648917: 44648918
33 SPG11 NM_025137.3(SPG11): c.1668delT (p.Phe556Leufs) deletion Pathogenic rs312262731 GRCh37 Chromosome 15, 44925770: 44925770
34 SPG11 NM_025137.3(SPG11): c.1668delT (p.Phe556Leufs) deletion Pathogenic rs312262731 GRCh38 Chromosome 15, 44633572: 44633572
35 SPG11 NM_025137.3(SPG11): c.1679C> G (p.Ser560Ter) single nucleotide variant Pathogenic rs312262732 GRCh37 Chromosome 15, 44925759: 44925759
36 SPG11 NM_025137.3(SPG11): c.1679C> G (p.Ser560Ter) single nucleotide variant Pathogenic rs312262732 GRCh38 Chromosome 15, 44633561: 44633561
37 SPG11 NM_025137.3(SPG11): c.1697_1712del16insTACTCCCAT (p.Asp566Valfs) indel Pathogenic GRCh37 Chromosome 15, 44925726: 44925741
38 SPG11 NM_025137.3(SPG11): c.1697_1712del16insTACTCCCAT (p.Asp566Valfs) indel Pathogenic GRCh38 Chromosome 15, 44633528: 44633543
39 SPG11 NM_025137.3(SPG11): c.1735+3_1735+6delAAGT deletion Likely pathogenic rs312262734 GRCh37 Chromosome 15, 44925697: 44925700
40 SPG11 NM_025137.3(SPG11): c.1735+3_1735+6delAAGT deletion Likely pathogenic rs312262734 GRCh38 Chromosome 15, 44633499: 44633502
41 SPG11 NM_025137.3(SPG11): c.1837_1838insA (p.Leu613Hisfs) insertion Pathogenic rs312262735 GRCh37 Chromosome 15, 44921484: 44921485
42 SPG11 NM_025137.3(SPG11): c.1837_1838insA (p.Leu613Hisfs) insertion Pathogenic rs312262735 GRCh38 Chromosome 15, 44629286: 44629287
43 SPG11 NM_025137.3(SPG11): c.1845_1846delGT (p.Ser616Phefs) deletion Pathogenic rs312262736 GRCh37 Chromosome 15, 44921476: 44921477
44 SPG11 NM_025137.3(SPG11): c.1845_1846delGT (p.Ser616Phefs) deletion Pathogenic rs312262736 GRCh38 Chromosome 15, 44629278: 44629279
45 SPG11 NM_025137.3(SPG11): c.1951C> T (p.Arg651Ter) single nucleotide variant Pathogenic rs199588440 GRCh37 Chromosome 15, 44920983: 44920983
46 SPG11 NM_025137.3(SPG11): c.1951C> T (p.Arg651Ter) single nucleotide variant Pathogenic rs199588440 GRCh38 Chromosome 15, 44628785: 44628785
47 SPG11 NM_025137.3(SPG11): c.2146C> T (p.Gln716Ter) single nucleotide variant Pathogenic/Likely pathogenic rs312262737 GRCh37 Chromosome 15, 44918627: 44918627
48 SPG11 NM_025137.3(SPG11): c.2146C> T (p.Gln716Ter) single nucleotide variant Pathogenic/Likely pathogenic rs312262737 GRCh38 Chromosome 15, 44626429: 44626429
49 SPG11 NM_025137.3(SPG11): c.2163dupT (p.Ile722Tyrfs) duplication Pathogenic rs312262738 GRCh37 Chromosome 15, 44918610: 44918610
50 SPG11 NM_025137.3(SPG11): c.2163dupT (p.Ile722Tyrfs) duplication Pathogenic rs312262738 GRCh38 Chromosome 15, 44626412: 44626412

Expression for Spastic Paraplegia 11, Autosomal Recessive

Search GEO for disease gene expression data for Spastic Paraplegia 11, Autosomal Recessive.

Pathways for Spastic Paraplegia 11, Autosomal Recessive

GO Terms for Spastic Paraplegia 11, Autosomal Recessive

Sources for Spastic Paraplegia 11, Autosomal Recessive

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