MCID: SPS131
MIFTS: 35

Spastic Paraplegia 12, Autosomal Dominant

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

Aliases & Classifications for Spastic Paraplegia 12, Autosomal Dominant

MalaCards integrated aliases for Spastic Paraplegia 12, Autosomal Dominant:

Name: Spastic Paraplegia 12, Autosomal Dominant 57 75 13 73
Spg12 57 12 59 75
Autosomal Dominant Spastic Paraplegia Type 12 12 59
Hereditary Spastic Paraplegia 12 12 15
Paraplegia, Spastic, Autosomal Dominant, Type 12 40
Autosomal Dominant Spastic Paraplegia 12 12

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant spastic paraplegia type 12
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
spastic paraplegia 12, autosomal dominant:
Onset and clinical course progressive
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 604805
Disease Ontology 12 DOID:0110765
ICD10 33 G11.4
Orphanet 59 ORPHA100993
MESH via Orphanet 45 C537484
UMLS via Orphanet 74 C1858106
ICD10 via Orphanet 34 G11.4
MedGen 42 C1858106
MeSH 44 D015419
UMLS 73 C1858106

Summaries for Spastic Paraplegia 12, Autosomal Dominant

UniProtKB/Swiss-Prot : 75 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 spg12, is related to spastic paraplegia 12 and hereditary spastic paraplegia 51, and has symptoms including urgency of micturition An important gene associated with Spastic Paraplegia 12, Autosomal Dominant is RTN2 (Reticulon 2). Affiliated tissues include spinal cord, and related phenotypes are hyperreflexia and degeneration of the lateral corticospinal tracts

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)

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

Related Diseases for Spastic Paraplegia 12, Autosomal Dominant

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

(show all 28)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 12 11.2
2 hereditary spastic paraplegia 51 10.1 AP5Z1 RTN2
3 spastic paraplegia 52, autosomal recessive 10.1 AP5Z1 RTN2
4 spastic paraplegia 50, autosomal recessive 10.1 AP5Z1 RTN2
5 spastic paraplegia 28, autosomal recessive 10.0 AP5Z1 RTN2
6 spastic paraplegia 54, autosomal recessive 9.9 AP5Z1 RTN2
7 spastic paraplegia 48, autosomal recessive 9.7 AP5Z1 ERLIN2
8 spastic paraplegia 18, autosomal recessive 9.5 AP5Z1 ERLIN2 REEP1
9 spastic paraplegia 47, autosomal recessive 9.5 AP5Z1 ERLIN2 REEP1
10 spastic paraplegia 39, autosomal recessive 9.4 AP5Z1 ERLIN2 REEP1
11 spastic paraplegia 30, autosomal recessive 9.4 AP5Z1 ERLIN2 REEP1
12 spastic paraplegia 42, autosomal dominant 9.4 AP5Z1 ERLIN2 REEP1
13 spastic paraplegia 44, autosomal recessive 9.4 AP5Z1 ERLIN2 ZFYVE27
14 charcot-marie-tooth disease, axonal, type 2d 9.4 ATL1 SPAST
15 spastic paraplegia 35, autosomal recessive 9.2 AP5Z1 ERLIN2
16 spastic paraplegia 8, autosomal dominant 9.0 AP5Z1 ATL1 ERLIN2 REEP1
17 spastic paraplegia 61, autosomal recessive 9.0 ATL1 REEP1 RTN2 SPAST
18 masa syndrome 8.8 AP5Z1 ATL1 REEP1 SPAST
19 spastic paraplegia 13, autosomal dominant 8.5 AP5Z1 ATL1 ERLIN2 SPAST
20 spastic paraplegia 3, autosomal dominant 8.5 ATL1 REEP1 RTN2 SPAST ZFYVE27
21 spastic paraplegia 33, autosomal dominant 8.4 AP5Z1 REEP1 RTN2 SPAST ZFYVE27
22 spastic paraplegia 10, autosomal dominant 8.2 AP5Z1 ATL1 KIF5A REEP1 RTN2 ZFYVE27
23 spastic paraplegia 2, x-linked 8.1 AP5Z1 ATL1 ERLIN2 REEP1 RTN2 ZFYVE27
24 spastic paraplegia 31, autosomal dominant 7.9 AP5Z1 ATL1 REEP1 RTN2 SPAST ZFYVE27
25 spastic paraplegia 4, autosomal dominant 7.8 ATL1 ERLIN2 REEP1 RTN2 SPAST ZFYVE27
26 spastic paraplegia 6, autosomal dominant 7.5 AP5Z1 ATL1 ERLIN2 KIF5A REEP1 SPAST
27 hereditary spastic paraplegia 6.6 AP5Z1 ATL1 ERLIN2 KIF5A REEP1 RTN2
28 paraplegia 6.6 AP5Z1 ATL1 ERLIN2 KIF5A REEP1 RTN2

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



Diseases related to Spastic Paraplegia 12, Autosomal Dominant

Symptoms & Phenotypes for Spastic Paraplegia 12, Autosomal Dominant

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Spastic Paraplegia 12, Autosomal Dominant:

59 32 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperreflexia 59 32 Very frequent (99-80%) HP:0001347
2 degeneration of the lateral corticospinal tracts 59 32 hallmark (90%) Very frequent (99-80%) HP:0002314
3 difficulty walking 59 32 hallmark (90%) Very frequent (99-80%) HP:0002355
4 progressive spastic paraplegia 59 32 hallmark (90%) Very frequent (99-80%) HP:0007020
5 lower limb muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0007340
6 urinary urgency 59 32 frequent (33%) Frequent (79-30%) HP:0000012
7 urinary incontinence 59 32 frequent (33%) Frequent (79-30%) HP:0000020
8 spastic gait 59 32 frequent (33%) Frequent (79-30%) HP:0002064
9 limb ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002070
10 impaired vibration sensation in the lower limbs 59 32 frequent (33%) Frequent (79-30%) HP:0002166
11 clonus 59 32 frequent (33%) Frequent (79-30%) HP:0002169
12 muscle cramps 59 32 frequent (33%) Frequent (79-30%) HP:0003394
13 babinski sign 59 32 frequent (33%) Frequent (79-30%) HP:0003487
14 lower limb amyotrophy 59 32 frequent (33%) Frequent (79-30%) HP:0007210
15 progressive pes cavus 59 32 frequent (33%) Frequent (79-30%) HP:0008075
16 impaired proprioception 59 32 frequent (33%) Frequent (79-30%) HP:0010831
17 female sexual dysfunction 59 32 frequent (33%) Frequent (79-30%) HP:0030014
18 male sexual dysfunction 59 32 frequent (33%) Frequent (79-30%) HP:0040307
19 spinal cord lesion 59 32 frequent (33%) Frequent (79-30%) HP:0100561
20 bowel incontinence 59 32 occasional (7.5%) Occasional (29-5%) HP:0002607
21 hyperreflexia in upper limbs 59 32 occasional (7.5%) Occasional (29-5%) HP:0007350
22 lower limb spasticity 59 Very frequent (99-80%)
23 seizures 59 Excluded (0%)
24 abnormality of the cerebrospinal fluid 59 Excluded (0%)
25 emg abnormality 59 Excluded (0%)
26 abnormal lower-limb motor evoked potentials 59 Excluded (0%)
27 spastic paraplegia 32 HP:0001258
28 pes cavus 32 HP:0001761
29 urinary bladder sphincter dysfunction 32 HP:0002839
30 ankle clonus 32 HP:0011448
31 knee clonus 32 HP:0011449

UMLS symptoms related to Spastic Paraplegia 12, Autosomal Dominant:


urgency of micturition

Drugs & Therapeutics for Spastic Paraplegia 12, Autosomal Dominant

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

Genetic Tests for Spastic Paraplegia 12, Autosomal Dominant

Anatomical Context for Spastic Paraplegia 12, Autosomal Dominant

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

41
Spinal Cord

Publications for Spastic Paraplegia 12, Autosomal Dominant

Variations for Spastic Paraplegia 12, Autosomal Dominant

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

75
# Symbol AA change Variation ID SNP ID
1 RTN2 p.Ser367Phe VAR_067562 rs140494585

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RTN2 RTN2, 1-BP INS, 178C insertion Pathogenic
2 RTN2 RTN2, DEL deletion Pathogenic
3 RTN2 NM_005619.4(RTN2): c.1100C> T (p.Ser367Phe) single nucleotide variant Pathogenic rs140494585 GRCh37 Chromosome 19, 45992745: 45992745
4 RTN2 NM_005619.4(RTN2): c.1100C> T (p.Ser367Phe) single nucleotide variant Pathogenic rs140494585 GRCh38 Chromosome 19, 45489487: 45489487
5 RTN2 NM_005619.4(RTN2): c.939delT (p.Thr314Leufs) deletion Pathogenic rs768449676 GRCh37 Chromosome 19, 45996512: 45996512
6 RTN2 NM_005619.4(RTN2): c.939delT (p.Thr314Leufs) deletion Pathogenic rs768449676 GRCh38 Chromosome 19, 45493254: 45493254

Expression for Spastic Paraplegia 12, Autosomal Dominant

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

Pathways for Spastic Paraplegia 12, Autosomal Dominant

GO Terms for Spastic Paraplegia 12, Autosomal Dominant

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 GO:0005783 9.63 ATL1 ERLIN2 REEP1 RTN2 SPAST ZFYVE27
2 endoplasmic reticulum membrane GO:0005789 9.43 ATL1 ERLIN2 REEP1 RTN2 SPAST ZFYVE27
3 integral component of endoplasmic reticulum membrane GO:0030176 9.26 RTN2 ZFYVE27
4 endoplasmic reticulum tubular network GO:0071782 8.8 ATL1 REEP1 ZFYVE27

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

# Name GO ID Score Top Affiliating Genes
1 axonogenesis GO:0007409 8.62 ATL1 SPAST

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

# Name GO ID Score Top Affiliating Genes
1 microtubule binding GO:0008017 8.8 KIF5A REEP1 SPAST

Sources for Spastic Paraplegia 12, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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