SPG19
MCID: SPS110
MIFTS: 31

Spastic Paraplegia 19, Autosomal Dominant (SPG19)

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 19, Autosomal Dominant

MalaCards integrated aliases for Spastic Paraplegia 19, Autosomal Dominant:

Name: Spastic Paraplegia 19, Autosomal Dominant 56 13 71
Spg19 56 12 58
Autosomal Dominant Spastic Paraplegia Type 19 12 58
Hereditary Spastic Paraplegia 19 12 15
Autosomal Dominant Spastic Paraplegia 19 12

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant spastic paraplegia type 19
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

56
Miscellaneous:
slow progression
genetic heterogeneity, see spg3a
age of onset 36 to 55 years (mean 47)

Inheritance:
autosomal dominant


HPO:

31
spastic paraplegia 19, autosomal dominant:
Inheritance autosomal dominant inheritance
Onset and clinical course slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110772
OMIM 56 607152
OMIM Phenotypic Series 56 PS303350
ICD10 32 G11.4
MESH via Orphanet 44 C536856
ICD10 via Orphanet 33 G11.4
UMLS via Orphanet 72 C1846685
Orphanet 58 ORPHA100999
MedGen 41 C1846685
UMLS 71 C1846685

Summaries for Spastic Paraplegia 19, Autosomal Dominant

Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in variation in the chromosome region 9q.

MalaCards based summary : Spastic Paraplegia 19, Autosomal Dominant, also known as spg19, is related to hereditary spastic paraplegia and paraplegia, and has symptoms including urgency of micturition and abnormal pyramidal signs. An important gene associated with Spastic Paraplegia 19, Autosomal Dominant is SPG19 (Spastic Paraplegia 19 (Autosomal Dominant)). Affiliated tissues include spinal cord, eye and bone, and related phenotypes are babinski sign and lower limb muscle weakness

More information from OMIM: 607152 PS303350

Related Diseases for Spastic Paraplegia 19, 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, 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 19, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 57)
# Related Disease Score Top Affiliating Genes
1 hereditary spastic paraplegia 29.8 ZFYVE26 WASHC5 SPG21 SPG19 SLC33A1 BSCL2
2 paraplegia 28.1 ZFYVE26 WASHC5 SPG21 SLC33A1 BSCL2 ALDH18A1
3 spastic paraplegia 19 11.6
4 pure hereditary spastic paraplegia 11.5
5 spastic paraplegia 10 11.2
6 spasticity 10.2
7 autosomal dominant cerebellar ataxia type iii 10.0 TTBK2 PLEKHG4
8 spinocerebellar ataxia 30 10.0 TTBK2 PLEKHG4
9 spinocerebellar ataxia 25 10.0 TTBK2 PLEKHG4
10 spinocerebellar ataxia 4 10.0 TTBK2 PLEKHG4
11 spinocerebellar ataxia 18 10.0 TTBK2 PLEKHG4
12 hereditary spastic paraplegia 72 10.0 ZFYVE26 SPG21
13 spastic paraplegia 52, autosomal recessive 10.0 ZFYVE26 SPG21
14 charcot-marie-tooth disease, axonal, type 2r 9.9 ZFYVE26 SPG21
15 spastic paraplegia 49, autosomal recessive 9.9 ZFYVE26 SPG21
16 spastic paraplegia 11, autosomal recessive 9.9 ZFYVE26 SPG21
17 spastic paraplegia 55, autosomal recessive 9.9 ZFYVE26 SPG21
18 spastic paraplegia 46, autosomal recessive 9.9 ZFYVE26 SPG21
19 spinocerebellar ataxia 21 9.9 TTBK2 PLEKHG4
20 spastic paraplegia 43, autosomal recessive 9.8 ZFYVE26 SLC33A1
21 charcot-marie-tooth disease, axonal, type 2t 9.8 ZFYVE26 SPG21
22 spastic paraplegia 32, autosomal recessive 9.8 ZFYVE26 SPG21 SLC33A1
23 spastic paraplegia 30, autosomal recessive 9.8 WASHC5 SPG21
24 autosomal dominant cerebellar ataxia 9.7 TTBK2 PLEKHG4 ATXN8OS
25 spastic paraplegia 33, autosomal dominant 9.6 WASHC5 SPG21 SLC33A1
26 spastic paraplegia 20, autosomal recessive 9.6 ZFYVE26 SPG21 BSCL2
27 spastic paraplegia 50, autosomal recessive 9.6 ZFYVE26 WASHC5
28 cerebellar disease 9.5 TTBK2 PLEKHG4
29 aceruloplasminemia 9.4 TTBK2 SLC33A1 PLEKHG4 ATXN8OS
30 spastic paraplegia 42, autosomal dominant 9.4 ZFYVE26 WASHC5 SLC33A1
31 spastic paraplegia 18, autosomal recessive 9.4 ZFYVE26 WASHC5 SPG21
32 spastic paraplegia 47, autosomal recessive 9.4 ZFYVE26 WASHC5 SPG21
33 spastic paraplegia 48, autosomal recessive 9.4 ZFYVE26 WASHC5 SPG21
34 spastic paraplegia 35, autosomal recessive 9.4 ZFYVE26 WASHC5 SPG21
35 spastic paraplegia 15, autosomal recessive 9.4 ZFYVE26 WASHC5 SPG21
36 spastic paraplegia 3, autosomal dominant 9.4 ZFYVE26 WASHC5
37 spastic paraplegia 2, x-linked 9.4 ZFYVE26 WASHC5 SPG21
38 spastic paraplegia 27, autosomal recessive 9.4 SPG21 SLC33A1 PLEKHG4 ATXN8OS ALDH18A1
39 charcot-marie-tooth disease, axonal, type 2e 9.3 ZFYVE26 SPG21 BSCL2
40 hereditary spastic paraplegia 23 9.2 ZFYVE26 WASHC5 SPG21 SLC33A1
41 spastic paraplegia 44, autosomal recessive 9.2 ZFYVE26 WASHC5 SPG21 SLC33A1
42 spastic paraplegia 39, autosomal recessive 9.2 ZFYVE26 WASHC5 SPG21 SLC33A1
43 spastic paraplegia 12, autosomal dominant 9.2 ZFYVE26 WASHC5 SPG21 SLC33A1
44 spastic paraplegia 26, autosomal recessive 9.2 ZFYVE26 WASHC5 SPG21 SLC33A1
45 spastic paraplegia 8, autosomal dominant 9.2 ZFYVE26 WASHC5 SPG21 SLC33A1
46 spastic paraplegia 31, autosomal dominant 9.0 ZFYVE26 WASHC5 SPG21 BSCL2
47 spastic paraplegia 10, autosomal dominant 9.0 ZFYVE26 WASHC5 SPG21 BSCL2
48 spastic paraplegia 17, autosomal dominant 9.0 ZFYVE26 WASHC5 SPG21 BSCL2
49 masa syndrome 9.0 ZFYVE26 WASHC5 SPG21 BSCL2
50 spastic paraplegia 14, autosomal recessive 8.9 ZFYVE26 WASHC5 SPG21 SLC33A1 ALDH18A1

Graphical network of the top 20 diseases related to Spastic Paraplegia 19, Autosomal Dominant:



Diseases related to Spastic Paraplegia 19, Autosomal Dominant

Symptoms & Phenotypes for Spastic Paraplegia 19, Autosomal Dominant

Human phenotypes related to Spastic Paraplegia 19, Autosomal Dominant:

58 31 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 babinski sign 58 31 hallmark (90%) Very frequent (99-80%) HP:0003487
2 lower limb muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0007340
3 degeneration of the lateral corticospinal tracts 58 31 hallmark (90%) Very frequent (99-80%) HP:0002314
4 progressive spastic paraplegia 58 31 hallmark (90%) Very frequent (99-80%) HP:0007020
5 urinary urgency 58 31 hallmark (90%) Very frequent (99-80%) HP:0000012
6 clonus 58 31 frequent (33%) Frequent (79-30%) HP:0002169
7 limb ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002070
8 impaired proprioception 58 31 frequent (33%) Frequent (79-30%) HP:0010831
9 impaired vibration sensation in the lower limbs 58 31 frequent (33%) Frequent (79-30%) HP:0002166
10 spinal cord lesion 58 31 frequent (33%) Frequent (79-30%) HP:0100561
11 abnormal lower-limb motor evoked potentials 58 31 frequent (33%) Frequent (79-30%) HP:0012898
12 lower limb amyotrophy 58 31 frequent (33%) Frequent (79-30%) HP:0007210
13 female sexual dysfunction 58 31 frequent (33%) Frequent (79-30%) HP:0030014
14 male sexual dysfunction 58 31 frequent (33%) Frequent (79-30%) HP:0040307
15 muscle spasm 31 frequent (33%) HP:0003394
16 difficulty walking 58 31 occasional (7.5%) Occasional (29-5%) HP:0002355
17 spastic gait 58 31 occasional (7.5%) Occasional (29-5%) HP:0002064
18 hyperreflexia in upper limbs 58 31 occasional (7.5%) Occasional (29-5%) HP:0007350
19 progressive pes cavus 58 31 occasional (7.5%) Occasional (29-5%) HP:0008075
20 hyperreflexia 58 31 Very frequent (99-80%) HP:0001347
21 lower limb spasticity 58 31 Very frequent (99-80%) HP:0002061
22 seizures 58 Excluded (0%)
23 emg abnormality 58 Excluded (0%)
24 urinary bladder sphincter dysfunction 31 HP:0002839
25 muscle cramps 58 Frequent (79-30%)
26 spastic paraplegia 31 HP:0001258
27 ankle clonus 31 HP:0011448
28 abnormality of the cerebrospinal fluid 58 Excluded (0%)
29 urinary incontinence 31 HP:0000020
30 knee clonus 31 HP:0011449

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
hyperreflexia
lower limb spasticity
spastic gait
pyramidal signs
extensor plantar responses
more
Genitourinary Bladder:
urinary urgency
urinary incontinence
sphincter disturbances

Clinical features from OMIM:

607152

UMLS symptoms related to Spastic Paraplegia 19, Autosomal Dominant:


urgency of micturition, abnormal pyramidal signs

Drugs & Therapeutics for Spastic Paraplegia 19, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 19, Autosomal Dominant

Genetic Tests for Spastic Paraplegia 19, Autosomal Dominant

Anatomical Context for Spastic Paraplegia 19, Autosomal Dominant

MalaCards organs/tissues related to Spastic Paraplegia 19, Autosomal Dominant:

40
Spinal Cord, Eye, Bone, Skin

Publications for Spastic Paraplegia 19, Autosomal Dominant

Articles related to Spastic Paraplegia 19, Autosomal Dominant:

# Title Authors PMID Year
1
Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34. 61 56
12112072 2002
2
Hereditary Spastic Paraplegia Overview 6
20301682 2000
3
Streptomyces songpinggouensis sp. nov., a Novel Actinomycete Isolated from Soil in Sichuan, China. 61
27582093 2016
4
A novel candidate locus on chromosome 11p14.1-p11.2 for autosomal dominant hereditary spastic paraplegia. 61
18364116 2008

Variations for Spastic Paraplegia 19, Autosomal Dominant

Expression for Spastic Paraplegia 19, Autosomal Dominant

Search GEO for disease gene expression data for Spastic Paraplegia 19, Autosomal Dominant.

Pathways for Spastic Paraplegia 19, Autosomal Dominant

GO Terms for Spastic Paraplegia 19, Autosomal Dominant

Sources for Spastic Paraplegia 19, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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