SPG19
MCID: SPS110
MIFTS: 29

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, 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 57 13 73
Spg19 57 12 59
Autosomal Dominant Spastic Paraplegia Type 19 12 59
Autosomal Dominant Spastic Paraplegia 19 12
Hereditary Spastic Paraplegia 19 12

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant spastic paraplegia type 19
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
spastic paraplegia 19, autosomal dominant:
Onset and clinical course slow progression
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 607152
Disease Ontology 12 DOID:0110772
ICD10 33 G11.4
Orphanet 59 ORPHA100999
MESH via Orphanet 45 C536856
UMLS via Orphanet 74 C1846685
ICD10 via Orphanet 34 G11.4
MedGen 42 C1846685
UMLS 73 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 spastic paraplegia 19 and perrault syndrome 1, and has symptoms including abnormal pyramidal signs and urgency of micturition. An important gene associated with Spastic Paraplegia 19, Autosomal Dominant is SPG19 (Spastic Paraplegia 19 (Autosomal Dominant)). Affiliated tissues include skin, bone and eye, and related phenotypes are hyperreflexia and clonus

Description from OMIM: 607152

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 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
Spastic Paraplegia Type 49 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 Autosomal Dominant Spastic Paraplegia Type 9b
Autosomal Dominant Spastic Paraplegia Type 9

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

# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 19 11.4
2 perrault syndrome 1 11.1
3 spastic paraplegia 10 11.1
4 hereditary spastic paraplegia 10.1
5 paraplegia 10.1

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Spastic Paraplegia 19, Autosomal Dominant:

59 32 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperreflexia 59 32 Very frequent (99-80%) HP:0001347
2 clonus 59 32 frequent (33%) Frequent (79-30%) HP:0002169
3 limb ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002070
4 babinski sign 59 32 hallmark (90%) Very frequent (99-80%) HP:0003487
5 impaired proprioception 59 32 frequent (33%) Frequent (79-30%) HP:0010831
6 muscle cramps 59 32 frequent (33%) Frequent (79-30%) HP:0003394
7 difficulty walking 59 32 occasional (7.5%) Occasional (29-5%) HP:0002355
8 lower limb muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0007340
9 lower limb spasticity 59 32 Very frequent (99-80%) HP:0002061
10 impaired vibration sensation in the lower limbs 59 32 frequent (33%) Frequent (79-30%) HP:0002166
11 degeneration of the lateral corticospinal tracts 59 32 hallmark (90%) Very frequent (99-80%) HP:0002314
12 progressive spastic paraplegia 59 32 hallmark (90%) Very frequent (99-80%) HP:0007020
13 spinal cord lesion 59 32 frequent (33%) Frequent (79-30%) HP:0100561
14 urinary urgency 59 32 hallmark (90%) Very frequent (99-80%) HP:0000012
15 spastic gait 59 32 occasional (7.5%) Occasional (29-5%) HP:0002064
16 hyperreflexia in upper limbs 59 32 occasional (7.5%) Occasional (29-5%) HP:0007350
17 progressive pes cavus 59 32 occasional (7.5%) Occasional (29-5%) HP:0008075
18 abnormal lower-limb motor evoked potentials 59 32 frequent (33%) Frequent (79-30%) HP:0012898
19 lower limb amyotrophy 59 32 frequent (33%) Frequent (79-30%) HP:0007210
20 female sexual dysfunction 59 32 frequent (33%) Frequent (79-30%) HP:0030014
21 male sexual dysfunction 59 32 frequent (33%) Frequent (79-30%) HP:0040307
22 seizures 59 Excluded (0%)
23 emg abnormality 59 Excluded (0%)
24 urinary bladder sphincter dysfunction 32 HP:0002839
25 spastic paraplegia 32 HP:0001258
26 ankle clonus 32 HP:0011448
27 abnormality of the cerebrospinal fluid 59 Excluded (0%)
28 urinary incontinence 32 HP:0000020
29 knee clonus 32 HP:0011449

UMLS symptoms related to Spastic Paraplegia 19, Autosomal Dominant:


abnormal pyramidal signs, urgency of micturition

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:

41
Skin, Bone, Eye, Spinal Cord

Publications for Spastic Paraplegia 19, Autosomal Dominant

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 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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