SPG12
MCID: SPS022
MIFTS: 18

Spastic Paraplegia 12 (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

Aliases & Classifications for Spastic Paraplegia 12

MalaCards integrated aliases for Spastic Paraplegia 12:

Name: Spastic Paraplegia 12 20 6
Spastic Paraplegia 12, Autosomal Dominant 70
Spg12 20

Classifications:



External Ids:

UMLS 70 C1858106

Summaries for Spastic Paraplegia 12

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 100993 Definition A pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus.

MalaCards based summary : Spastic Paraplegia 12, also known as spastic paraplegia 12, autosomal dominant, is related to spastic paraplegia 12, autosomal dominant and hereditary spastic paraplegia, and has symptoms including urgency of micturition An important gene associated with Spastic Paraplegia 12 is RTN2 (Reticulon 2).

Related Diseases for Spastic Paraplegia 12

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 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 12, autosomal dominant 11.8
2 hereditary spastic paraplegia 9.9
3 paraplegia 9.9

Symptoms & Phenotypes for Spastic Paraplegia 12

UMLS symptoms related to Spastic Paraplegia 12:


urgency of micturition

Drugs & Therapeutics for Spastic Paraplegia 12

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 12

Genetic Tests for Spastic Paraplegia 12

Anatomical Context for Spastic Paraplegia 12

Publications for Spastic Paraplegia 12

Articles related to Spastic Paraplegia 12:

(show all 13)
# Title Authors PMID Year
1
Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12. 61 6
22232211 2012
2
Clinical and genetic study of a large Italian family linked to SPG12 locus. 6 61
12427890 2002
3
A locus for autosomal dominant "pure" hereditary spastic paraplegia maps to chromosome 19q13. 61 6
10677333 2000
4
Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders. 6
27165006 2016
5
The effects of ER morphology on synaptic structure and function in Drosophila melanogaster. 61
26906425 2016
6
Rare disease models provide insight into inherited forms of neurodegeneration. 61
28603788 2016
7
Protrudin regulates endoplasmic reticulum morphology and function associated with the pathogenesis of hereditary spastic paraplegia. 61
24668814 2014
8
Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms. 61
23897027 2013
9
Protrudin binds atlastins and endoplasmic reticulum-shaping proteins and regulates network formation. 61
23969831 2013
10
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. 61
22554690 2012
11
A novel candidate locus on chromosome 11p14.1-p11.2 for autosomal dominant hereditary spastic paraplegia. 61
18364116 2008
12
Fine mapping and genetic heterogeneity in the pure form of autosomal dominant familial spastic paraplegia. 61
11354831 2001
13
[The clinical diagnostic value of studies using magnetic stimulation]. 61
8255340 1993

Variations for Spastic Paraplegia 12

ClinVar genetic disease variations for Spastic Paraplegia 12:

6 (show all 23)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RTN2 NM_005619.5(RTN2):c.178dup (p.Arg60fs) Duplication Pathogenic 30324 rs763387041 GRCh37: 19:45998164-45998165
GRCh38: 19:45494906-45494907
2 RTN2 RTN2, DEL Deletion Pathogenic 30325 GRCh37:
GRCh38:
3 RTN2 NM_005619.5(RTN2):c.1100C>T (p.Ser367Phe) SNV Pathogenic 30326 rs140494585 GRCh37: 19:45992745-45992745
GRCh38: 19:45489487-45489487
4 RTN2 NM_005619.5(RTN2):c.939del (p.Thr314fs) Deletion Pathogenic 378054 rs768449676 GRCh37: 19:45996512-45996512
GRCh38: 19:45493254-45493254
5 RTN2 NM_206900.3(RTN2):c.814+791_814+801del Deletion Likely pathogenic 633397 rs1568624823 GRCh37: 19:45996623-45996633
GRCh38: 19:45493365-45493375
6 RTN2 NM_005619.5(RTN2):c.170del (p.Gly57fs) Deletion Likely pathogenic 933606 GRCh37: 19:45998173-45998173
GRCh38: 19:45494915-45494915
7 RTN2 NM_005619.5(RTN2):c.943C>A (p.Pro315Thr) SNV Uncertain significance 1028922 GRCh37: 19:45996508-45996508
GRCh38: 19:45493250-45493250
8 RTN2 NM_005619.5(RTN2):c.1034-13C>T SNV Uncertain significance 893823 GRCh37: 19:45992824-45992824
GRCh38: 19:45489566-45489566
9 RTN2 NM_005619.5(RTN2):c.1181T>G (p.Leu394Arg) SNV Uncertain significance 893822 GRCh37: 19:45992664-45992664
GRCh38: 19:45489406-45489406
10 RTN2 NM_005619.5(RTN2):c.1185G>A (p.Arg395=) SNV Uncertain significance 893821 GRCh37: 19:45992660-45992660
GRCh38: 19:45489402-45489402
11 RTN2 NM_005619.5(RTN2):c.1241+3G>A SNV Uncertain significance 893524 GRCh37: 19:45992601-45992601
GRCh38: 19:45489343-45489343
12 RTN2 NM_005619.5(RTN2):c.1339C>T (p.Arg447Trp) SNV Uncertain significance 893523 GRCh37: 19:45992147-45992147
GRCh38: 19:45488889-45488889
13 RTN2 NM_005619.5(RTN2):c.1421T>C (p.Ile474Thr) SNV Uncertain significance 893522 GRCh37: 19:45991924-45991924
GRCh38: 19:45488666-45488666
14 RTN2 NM_005619.5(RTN2):c.1497+3G>A SNV Uncertain significance 893521 GRCh37: 19:45991726-45991726
GRCh38: 19:45488468-45488468
15 RTN2 NM_005619.5(RTN2):c.*148G>A SNV Uncertain significance 329545 rs886054503 GRCh37: 19:45988818-45988818
GRCh38: 19:45485560-45485560
16 RTN2 NM_005619.5(RTN2):c.*270C>T SNV Uncertain significance 329543 rs527298509 GRCh37: 19:45988696-45988696
GRCh38: 19:45485438-45485438
17 RTN2 NM_005619.5(RTN2):c.*344C>T SNV Uncertain significance 329541 rs375889892 GRCh37: 19:45988622-45988622
GRCh38: 19:45485364-45485364
18 RTN2 NM_005619.5(RTN2):c.*300G>C SNV Uncertain significance 329542 rs532093070 GRCh37: 19:45988666-45988666
GRCh38: 19:45485408-45485408
19 RTN2 NM_005619.5(RTN2):c.938dup (p.Thr314fs) Duplication Uncertain significance 548603 rs748397131 GRCh37: 19:45996512-45996513
GRCh38: 19:45493254-45493255
20 RTN2 NM_005619.5(RTN2):c.*51T>C SNV Likely benign 329546 rs569611116 GRCh37: 19:45988915-45988915
GRCh38: 19:45485657-45485657
21 RTN2 NM_005619.5(RTN2):c.986G>A (p.Ser329Asn) SNV Likely benign 329550 rs145653668 GRCh37: 19:45996465-45996465
GRCh38: 19:45493207-45493207
22 RTN2 NM_005619.5(RTN2):c.1607C>T (p.Ala536Val) SNV Likely benign 893520 GRCh37: 19:45988997-45988997
GRCh38: 19:45485739-45485739
23 RTN2 NM_005619.5(RTN2):c.1630G>A (p.Ala544Thr) SNV Likely benign 653220 rs201387324 GRCh37: 19:45988974-45988974
GRCh38: 19:45485716-45485716

Expression for Spastic Paraplegia 12

Search GEO for disease gene expression data for Spastic Paraplegia 12.

Pathways for Spastic Paraplegia 12

GO Terms for Spastic Paraplegia 12

Sources for Spastic Paraplegia 12

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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