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SPG12
MCID: SPS131
MIFTS: 41

Spastic Paraplegia 12, Autosomal Dominant (SPG12)

Categories: Bone diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases, Skin diseases
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Aliases & Classifications for Spastic Paraplegia 12, Autosomal Dominant

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MalaCards integrated aliases for Spastic Paraplegia 12, Autosomal Dominant:

Name: Spastic Paraplegia 12, Autosomal Dominant 57 73 13 71
Hereditary Spastic Paraplegia 12 12 29 6 15
Spg12 57 12 58 73
Autosomal Dominant Spastic Paraplegia Type 12 12 58
Paraplegia, Spastic, Autosomal Dominant, Type 12 39
Autosomal Dominant Spastic Paraplegia 12 12

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant spastic paraplegia type 12
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
later onset has been reported
age of onset 5 to 22 years (mean 6.9)


HPO:

31
spastic paraplegia 12, autosomal dominant:
Inheritance autosomal dominant inheritance
Onset and clinical course progressive


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Eye diseases Nephrological diseases Gastrointestinal diseases Skin diseases Respiratory diseases Bone diseases Ear diseases Muscle diseases Mental diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110765
OMIM® 57 604805
OMIM Phenotypic Series 57 PS303350
MeSH 44 D015419
ICD10 32 G11.4
MESH via Orphanet 45 C537484
ICD10 via Orphanet 33 G11.4
UMLS via Orphanet 72 C1858106
Orphanet 58 ORPHA100993
MedGen 41 C1858106
UMLS 71 C1858106
Sources

Summaries for Spastic Paraplegia 12, Autosomal Dominant

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UniProtKB/Swiss-Prot : 73 Spastic paraplegia 12, autosomal dominant: 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 12, Autosomal Dominant, also known as hereditary spastic paraplegia 12, is related to paraplegia and hereditary spastic paraplegia, and has symptoms including urgency of micturition An important gene associated with Spastic Paraplegia 12, Autosomal Dominant is RTN2 (Reticulon 2), and among its related pathways/superpathways is Endocytosis. Affiliated tissues include spinal cord, and related phenotypes are progressive spastic paraplegia and difficulty walking

Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the RTN2 gene on chromosome 19q13.

OMIM® : 57 Spastic paraplegia-12 is an autosomal dominant neurodegenerative disorder characterized by lower limb spasticity and hyperreflexia, resulting in walking difficulties. Some patients may have urinary symptoms and distal sensory impairment. The age at onset is variable and can range from childhood to adulthood (summary by Montenegro et al., 2012). For a general description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (182600). (604805) (Updated 05-Mar-2021)

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Related Diseases for Spastic Paraplegia 12, Autosomal Dominant

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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
Spastic Paraplegia 83, 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 12, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 73)
# Related Disease Score Top Affiliating Genes
1 paraplegia 26.1 ZFYVE27 ZFYVE26 WASHC5 SPG21 SPG11 SPAST
2 hereditary spastic paraplegia 26.1 ZFYVE27 ZFYVE26 WASHC5 SPG21 SPG11 SPAST
3 spastic paraplegia 12 11.4
4 spinal cord neuroblastoma 10.2 ZFYVE27 REEP1
5 spinal cord primitive neuroectodermal neoplasm 10.2 ZFYVE27 REEP1
6 neuropathy, hereditary sensory, type id 10.0 SPAST KIF5A ATL1
7 spastic paraplegia, optic atrophy, and neuropathy 10.0 WASHC5 AP5Z1
8 spastic paraplegia 28, autosomal recessive 10.0 SPG11 REEP1 AP5Z1
9 complex hereditary spastic paraplegia 9.9 SPG11 NIPA1
10 spastic paraplegia 57, autosomal recessive 9.9 SPG11 REEP1 KIF5A
11 neuronopathy, distal hereditary motor, type va 9.9 REEP2 REEP1 ATL1
12 spastic paraplegia 53, autosomal recessive 9.9 WASHC5 RTN2 ATL1 AP5Z1
13 spastic paraplegia 43, autosomal recessive 9.9 SPG11 SPAST ATL1 ARL6IP1
14 spastic paraplegia 73, autosomal dominant 9.8 SPG21 REEP1 ATL1
15 spastic paraparesis 9.8 SPG11 SPAST
16 nescav syndrome 9.8 ZFYVE26 RTN2 REEP1 AP5Z1
17 amyotrophic lateral sclerosis type 5 9.8 ZFYVE26 SPG11 AP5Z1
18 spastic paraplegia 63, autosomal recessive 9.7 SPG21 SPG11
19 spastic paraplegia 41, autosomal dominant 9.7 SPG21 SPAST KIF5A
20 spinocerebellar ataxia, autosomal recessive 20 9.7 ZFYVE26 SPG11
21 spastic paraplegia 45, autosomal recessive 9.7 SPG21 SPG11
22 pure hereditary spastic paraplegia 9.7 SPAST RTN2 NIPA1 KIF5A ATL1
23 charcot-marie-tooth disease, axonal, type 2r 9.7 ZFYVE26 SPG21
24 spastic paraplegia 64, autosomal recessive 9.7 SPG21 SPG11 SPAST
25 spastic paraplegia 32, autosomal recessive 9.7 WASHC5 SPG21 SPG11
26 mast syndrome 9.6 ZFYVE27 SPG21 SPG11
27 neuropathy, hereditary sensory, type iic 9.6 SPG21 SPG11 RTN2 REEP1
28 motor peripheral neuropathy 9.6 ZFYVE26 SPG11 REEP1 KIF5A
29 spastic paraplegia 14, autosomal recessive 9.6 SPG21 SPG11 SPAST ATL1
30 axonal neuropathy 9.6 ZFYVE26 SPG11 KIF5A ATL1
31 charcot-marie-tooth disease, axonal, type 2t 9.6 ZFYVE26 SPG21
32 spastic paraplegia 29, autosomal dominant 9.6 ZFYVE26 WASHC5 SPG21
33 spastic paraplegia 19, autosomal dominant 9.6 ZFYVE26 WASHC5 SPG21
34 spastic paraplegia 54, autosomal recessive 9.5 SPG21 SPG11 REEP1 AP5Z1
35 spastic paraplegia 16, x-linked 9.5 WASHC5 SPG21 SPG11 SPAST
36 spastic paraplegia 44, autosomal recessive 9.5 ZFYVE27 SPG21 SPG11 AP5Z1
37 spastic paraplegia 49, autosomal recessive 9.5 ZFYVE26 SPG21 SPG11
38 spastic paraplegia 3, autosomal dominant 9.5 SPG11 SPAST RTN2 REEP1 NIPA1 ATL1
39 spastic paraplegia 55, autosomal recessive 9.5 ZFYVE26 SPG21 SPG11
40 spastic paraplegia 25, autosomal recessive 9.5 ZFYVE26 WASHC5 SPG21 REEP1
41 spastic paraplegia 37, autosomal dominant 9.5 ZFYVE26 WASHC5 SPG21 REEP1
42 spastic paraplegia 34, x-linked 9.5 ZFYVE26 WASHC5 SPG21 REEP1
43 spastic paraplegia 26, autosomal recessive 9.4 SPG21 SPG11 REEP2 REEP1
44 hereditary spastic paraplegia 51 9.4 ZFYVE26 SPG21 SPG11 AP5Z1
45 hereditary spastic paraplegia 23 9.4 ZFYVE26 WASHC5 SPG21 SPG11
46 spastic paraplegia 5a, autosomal recessive 9.4 ZFYVE26 SPG11 SPAST REEP2 KIF5A
47 spastic paraplegia 56, autosomal recessive 9.4 ZFYVE26 SPG21 SPG11 AP5Z1
48 spastic paraplegia 52, autosomal recessive 9.3 ZFYVE26 SPG21 SPG11 RTN2 AP5Z1
49 spastic paraplegia 50, autosomal recessive 9.3 ZFYVE26 SPG21 SPG11 RTN2 AP5Z1
50 spastic paraplegia 20, autosomal recessive 9.2 ZFYVE26 SPG21 SPAST NIPA1 ATL1

Graphical network of the top 20 diseases related to Spastic Paraplegia 12, Autosomal Dominant:



Diseases related to Spastic Paraplegia 12, Autosomal Dominant
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Symptoms & Phenotypes for Spastic Paraplegia 12, Autosomal Dominant

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Human phenotypes related to Spastic Paraplegia 12, Autosomal Dominant:

58 31 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 progressive spastic paraplegia 58 31 hallmark (90%) Very frequent (99-80%) HP:0007020
2 difficulty walking 58 31 hallmark (90%) Very frequent (99-80%) HP:0002355
3 lower limb muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0007340
4 degeneration of the lateral corticospinal tracts 58 31 hallmark (90%) Very frequent (99-80%) HP:0002314
5 clonus 58 31 frequent (33%) Frequent (79-30%) HP:0002169
6 babinski sign 58 31 frequent (33%) Frequent (79-30%) HP:0003487
7 impaired proprioception 58 31 frequent (33%) Frequent (79-30%) HP:0010831
8 muscle spasm 58 31 frequent (33%) Frequent (79-30%) HP:0003394
9 urinary incontinence 58 31 frequent (33%) Frequent (79-30%) HP:0000020
10 spastic gait 58 31 frequent (33%) Frequent (79-30%) HP:0002064
11 spinal cord lesion 58 31 frequent (33%) Frequent (79-30%) HP:0100561
12 urinary urgency 58 31 frequent (33%) Frequent (79-30%) HP:0000012
13 limb ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002070
14 female sexual dysfunction 58 31 frequent (33%) Frequent (79-30%) HP:0030014
15 impaired vibration sensation in the lower limbs 58 31 frequent (33%) Frequent (79-30%) HP:0002166
16 lower limb amyotrophy 58 31 frequent (33%) Frequent (79-30%) HP:0007210
17 progressive pes cavus 58 31 frequent (33%) Frequent (79-30%) HP:0008075
18 male sexual dysfunction 58 31 frequent (33%) Frequent (79-30%) HP:0040307
19 bowel incontinence 58 31 occasional (7.5%) Occasional (29-5%) HP:0002607
20 hyperreflexia in upper limbs 58 31 occasional (7.5%) Occasional (29-5%) HP:0007350
21 hyperreflexia 58 31 Very frequent (99-80%) HP:0001347
22 seizures 58 Excluded (0%)
23 emg abnormality 58 Excluded (0%)
24 pes cavus 31 HP:0001761
25 spastic paraplegia 31 HP:0001258
26 lower limb spasticity 58 Very frequent (99-80%)
27 ankle clonus 31 HP:0011448
28 urinary bladder sphincter dysfunction 31 HP:0002839
29 abnormality of the cerebrospinal fluid 58 Excluded (0%)
30 abnormal lower-limb motor evoked potentials 58 Excluded (0%)
31 knee clonus 31 HP:0011449

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
hyperreflexia
lower limb spasticity
spastic gait
extensor plantar responses
lower limb weakness
more
Genitourinary Bladder:
urinary incontinence
urinary urgency
sphincter disturbances

Skeletal Feet:
pes cavus

Neurologic Peripheral Nervous System:
decreased vibratory sense in the lower limbs

Clinical features from OMIM®:

604805 (Updated 05-Mar-2021)

UMLS symptoms related to Spastic Paraplegia 12, Autosomal Dominant:


urgency of micturition

MGI Mouse Phenotypes related to Spastic Paraplegia 12, Autosomal Dominant:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.28 AP5Z1 ARL6IP1 ATL1 KIF5A REEP1 SPAST
Sources

Drugs & Therapeutics for Spastic Paraplegia 12, Autosomal Dominant

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Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 12, Autosomal Dominant

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Genetic Tests for Spastic Paraplegia 12, Autosomal Dominant

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Genetic tests related to Spastic Paraplegia 12, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Hereditary Spastic Paraplegia 12 29 RTN2
Sources

Anatomical Context for Spastic Paraplegia 12, Autosomal Dominant

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MalaCards organs/tissues related to Spastic Paraplegia 12, Autosomal Dominant:

40
Spinal Cord
Sources

Publications for Spastic Paraplegia 12, Autosomal Dominant

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Articles related to Spastic Paraplegia 12, Autosomal Dominant:

(show all 12)
# Title Authors PMID Year
1
Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12. 57 6 61
22232211 2012
2
Clinical and genetic study of a large Italian family linked to SPG12 locus. 57 6 61
12427890 2002
3
A locus for autosomal dominant "pure" hereditary spastic paraplegia maps to chromosome 19q13. 61 57 6
10677333 2000
4
Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders. 6 57
27165006 2016
5
Fine mapping and genetic heterogeneity in the pure form of autosomal dominant familial spastic paraplegia. 57 61
11354831 2001
6
The effects of ER morphology on synaptic structure and function in Drosophila melanogaster. 61
26906425 2016
7
Rare disease models provide insight into inherited forms of neurodegeneration. 61
28603788 2016
8
Protrudin regulates endoplasmic reticulum morphology and function associated with the pathogenesis of hereditary spastic paraplegia. 61
24668814 2014
9
Protrudin binds atlastins and endoplasmic reticulum-shaping proteins and regulates network formation. 61
23969831 2013
10
Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms. 61
23897027 2013
11
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. 61
22554690 2012
12
A novel candidate locus on chromosome 11p14.1-p11.2 for autosomal dominant hereditary spastic paraplegia. 61
18364116 2008
Sources

Variations for Spastic Paraplegia 12, Autosomal Dominant

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ClinVar genetic disease variations for Spastic Paraplegia 12, Autosomal Dominant:

6 (show all 21)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RTN2 NM_005619.5(RTN2):c.178dup (p.Arg60fs) Duplication Pathogenic 30324 rs763387041 19:45998164-45998165 19:45494906-45494907
2 RTN2 RTN2, DEL Deletion Pathogenic 30325
3 RTN2 NM_005619.5(RTN2):c.1100C>T (p.Ser367Phe) SNV Pathogenic 30326 rs140494585 19:45992745-45992745 19:45489487-45489487
4 RTN2 NM_005619.5(RTN2):c.939del (p.Thr314fs) Deletion Pathogenic 378054 rs768449676 19:45996512-45996512 19:45493254-45493254
5 RTN2 NM_206900.3(RTN2):c.814+791_814+801del Deletion Likely pathogenic 633397 rs1568624823 19:45996623-45996633 19:45493365-45493375
6 RTN2 NM_005619.5(RTN2):c.938dup (p.Thr314fs) Duplication Uncertain significance 548603 rs748397131 19:45996512-45996513 19:45493254-45493255
7 RTN2 NM_005619.5(RTN2):c.*148G>A SNV Uncertain significance 329545 rs886054503 19:45988818-45988818 19:45485560-45485560
8 RTN2 NM_005619.5(RTN2):c.*270C>T SNV Uncertain significance 329543 rs527298509 19:45988696-45988696 19:45485438-45485438
9 RTN2 NM_005619.5(RTN2):c.*344C>T SNV Uncertain significance 329541 rs375889892 19:45988622-45988622 19:45485364-45485364
10 RTN2 NM_005619.5(RTN2):c.*300G>C SNV Uncertain significance 329542 rs532093070 19:45988666-45988666 19:45485408-45485408
11 RTN2 NM_005619.5(RTN2):c.1497+3G>A SNV Uncertain significance 893521 19:45991726-45991726 19:45488468-45488468
12 RTN2 NM_005619.5(RTN2):c.1421T>C (p.Ile474Thr) SNV Uncertain significance 893522 19:45991924-45991924 19:45488666-45488666
13 RTN2 NM_005619.5(RTN2):c.1339C>T (p.Arg447Trp) SNV Uncertain significance 893523 19:45992147-45992147 19:45488889-45488889
14 RTN2 NM_005619.5(RTN2):c.1241+3G>A SNV Uncertain significance 893524 19:45992601-45992601 19:45489343-45489343
15 RTN2 NM_005619.5(RTN2):c.1185G>A (p.Arg395=) SNV Uncertain significance 893821 19:45992660-45992660 19:45489402-45489402
16 RTN2 NM_005619.5(RTN2):c.1181T>G (p.Leu394Arg) SNV Uncertain significance 893822 19:45992664-45992664 19:45489406-45489406
17 RTN2 NM_005619.5(RTN2):c.1034-13C>T SNV Uncertain significance 893823 19:45992824-45992824 19:45489566-45489566
18 RTN2 NM_005619.5(RTN2):c.1630G>A (p.Ala544Thr) SNV Likely benign 653220 rs201387324 19:45988974-45988974 19:45485716-45485716
19 RTN2 NM_005619.5(RTN2):c.*51T>C SNV Likely benign 329546 rs569611116 19:45988915-45988915 19:45485657-45485657
20 RTN2 NM_005619.5(RTN2):c.986G>A (p.Ser329Asn) SNV Likely benign 329550 rs145653668 19:45996465-45996465 19:45493207-45493207
21 RTN2 NM_005619.5(RTN2):c.1607C>T (p.Ala536Val) SNV Likely benign 893520 19:45988997-45988997 19:45485739-45485739

UniProtKB/Swiss-Prot genetic disease variations for Spastic Paraplegia 12, Autosomal Dominant:

73
# Symbol AA change Variation ID SNP ID
1 RTN2 p.Ser367Phe VAR_067562 rs140494585

Sources

Expression for Spastic Paraplegia 12, Autosomal Dominant

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Search GEO for disease gene expression data for Spastic Paraplegia 12, Autosomal Dominant.
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Pathways for Spastic Paraplegia 12, Autosomal Dominant

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Pathways related to Spastic Paraplegia 12, Autosomal Dominant according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Endocytosis 36
11.32 ZFYVE27 WASHC5 SPG21 KIF5A
Sources

GO Terms for Spastic Paraplegia 12, Autosomal Dominant

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Cellular components related to Spastic Paraplegia 12, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 9.7 ZFYVE27 SPAST RTN2 REEP2 REEP1 ATL1
2 endosome GO:0005768 9.65 ZFYVE27 WASHC5 SPG21 SPAST NIPA1
3 endoplasmic reticulum GO:0005783 9.56 ZFYVE27 WASHC5 SPAST RTN2 REEP2 REEP1
4 integral component of endoplasmic reticulum membrane GO:0030176 9.5 ZFYVE27 RTN2 ARL6IP1
5 endoplasmic reticulum tubular network GO:0071782 9.02 ZFYVE27 SPAST REEP2 REEP1 ATL1

Biological processes related to Spastic Paraplegia 12, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lysosome organization GO:0007040 9.32 WASHC5 SPG11
2 synaptic vesicle transport GO:0048489 9.26 SPG11 KIF5A
3 endoplasmic reticulum tubular network organization GO:0071786 9.16 REEP2 REEP1
4 endoplasmic reticulum tubular network membrane organization GO:1990809 8.96 ATL1 ARL6IP1
5 endoplasmic reticulum tubular network formation GO:0071787 8.62 ZFYVE27 ARL6IP1

Molecular functions related to Spastic Paraplegia 12, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.8 ZFYVE27 ZFYVE26 WASHC5 SPG21 SPG11 SPAST
2 microtubule binding GO:0008017 8.92 SPAST REEP2 REEP1 KIF5A
Sources

Sources for Spastic Paraplegia 12, Autosomal Dominant

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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