SPG29
MCID: SPS094
MIFTS: 28

Spastic Paraplegia 29, Autosomal Dominant (SPG29)

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 29, Autosomal Dominant

MalaCards integrated aliases for Spastic Paraplegia 29, Autosomal Dominant:

Name: Spastic Paraplegia 29, Autosomal Dominant 56 13 71
Spg29 56 12 58
Hereditary Spastic Paraplegia 29 12 15
Autosomal Dominant Spastic Paraplegia Type 29 58
Autosomal Dominant Spastic Paraplegia 29 12

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant spastic paraplegia type 29
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent;

OMIM:

56
Miscellaneous:
genetic anticipation
mean age at onset 15.2 years

Inheritance:
autosomal dominant


HPO:

31
spastic paraplegia 29, autosomal dominant:
Inheritance autosomal dominant inheritance genetic anticipation


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110780
OMIM 56 609727
OMIM Phenotypic Series 56 PS303350
ICD10 32 G11.4
MESH via Orphanet 44 C536863
ICD10 via Orphanet 33 G11.4
UMLS via Orphanet 72 C1857855
Orphanet 58 ORPHA101009
MedGen 41 C1857855
UMLS 71 C1857855

Summaries for Spastic Paraplegia 29, Autosomal Dominant

Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in variation in the chromosome region 1p31.1-p21.1.

MalaCards based summary : Spastic Paraplegia 29, Autosomal Dominant, also known as spg29, is related to hereditary spastic paraplegia and spastic paraplegia 29, and has symptoms including clonus, urgency of micturition and persistent vomiting. An important gene associated with Spastic Paraplegia 29, Autosomal Dominant is SPG29 (Spastic Paraplegia 29 (Autosomal Dominant)). Related phenotypes are babinski sign and lower limb hyperreflexia

More information from OMIM: 609727 PS303350

Related Diseases for Spastic Paraplegia 29, 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 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
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 29, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 49)
# Related Disease Score Top Affiliating Genes
1 hereditary spastic paraplegia 29.4 ZFYVE26 WASHC5 SPG29 SPG21 SNX7 SLC33A1
2 spastic paraplegia 29 11.6
3 spastic paraplegia 10 11.2
4 hereditary spastic paraplegia 30 10.0 WASHC5 SPG21
5 spastic paraplegia 53, autosomal recessive 10.0 WASHC5 SLC33A1
6 spastic paraplegia 13, autosomal dominant 9.8 SPG21 SLC33A1
7 spastic paraplegia 43, autosomal recessive 9.8 WASHC5 SLC33A1
8 hereditary spastic paraplegia 72 9.8 ZFYVE26 SPG21
9 hereditary spastic paraplegia 51 9.8 ZFYVE26 SPG21
10 charcot-marie-tooth disease, axonal, type 2r 9.8 ZFYVE26 SPG21
11 spastic paraplegia 52, autosomal recessive 9.8 ZFYVE26 SPG21
12 spastic paraplegia 49, autosomal recessive 9.7 ZFYVE26 SPG21
13 spastic paraplegia 32, autosomal recessive 9.7 WASHC5 SPG21 SLC33A1
14 spastic paraplegia 50, autosomal recessive 9.7 ZFYVE26 SPG21
15 spastic paraplegia 61, autosomal recessive 9.7 ZFYVE26 SPG21
16 spastic paraplegia 55, autosomal recessive 9.7 ZFYVE26 SPG21
17 spastic paraplegia 56, autosomal recessive 9.7 ZFYVE26 SPG21
18 spastic paraplegia 46, autosomal recessive 9.7 ZFYVE26 SPG21
19 charcot-marie-tooth disease, axonal, type 2t 9.6 ZFYVE26 SPG21
20 spastic paraplegia 44, autosomal recessive 9.5 ZFYVE26 SPG21 SLC33A1
21 spastic paraplegia 26, autosomal recessive 9.5 ZFYVE26 SPG21 SLC33A1
22 spastic paraplegia 20, autosomal recessive 9.5 ZFYVE26 SPG21
23 spastic paraplegia 18, autosomal recessive 9.5 ZFYVE26 WASHC5 SPG21
24 spastic paraplegia 47, autosomal recessive 9.5 ZFYVE26 WASHC5 SPG21
25 spastic paraplegia 48, autosomal recessive 9.4 ZFYVE26 WASHC5 SPG21
26 spastic paraplegia 12, autosomal dominant 9.4 ZFYVE26 WASHC5 SPG21
27 spastic paraplegia 31, autosomal dominant 9.4 ZFYVE26 WASHC5 SPG21
28 spastic paraplegia 15, autosomal recessive 9.4 ZFYVE26 WASHC5 SPG21
29 spastic paraplegia 35, autosomal recessive 9.4 ZFYVE26 WASHC5 SPG21
30 spastic paraplegia 10, autosomal dominant 9.4 ZFYVE26 WASHC5 SPG21
31 spastic paraplegia 2, x-linked 9.4 ZFYVE26 WASHC5 SPG21
32 spastic paraplegia 17, autosomal dominant 9.4 ZFYVE26 WASHC5 SPG21
33 masa syndrome 9.4 ZFYVE26 WASHC5 SPG21
34 spastic paraplegia 42, autosomal dominant 9.4 ZFYVE26 WASHC5 SLC33A1
35 spastic paraplegia 3, autosomal dominant 9.2 ZFYVE26 WASHC5
36 spastic paraplegia 33, autosomal dominant 9.2 ZFYVE26 WASHC5 SPG21 ALDH18A1
37 hereditary spastic paraplegia 23 9.1 ZFYVE26 WASHC5 SPG21 SLC33A1
38 spastic paraplegia 39, autosomal recessive 9.1 ZFYVE26 WASHC5 SPG21 SLC33A1
39 spastic paraplegia 6, autosomal dominant 9.1 ZFYVE26 WASHC5 SPG21 SLC33A1
40 spastic paraplegia 8, autosomal dominant 9.1 ZFYVE26 WASHC5 SPG21 SLC33A1
41 spastic paraplegia 4, autosomal dominant 9.1 ZFYVE26 WASHC5 SPG21 SLC33A1
42 spastic paraplegia 27, autosomal recessive 9.0 SPG21 SLC33A1 PLEKHG4 ATXN8OS ALDH18A1
43 spastic paraplegia 14, autosomal recessive 9.0 SPG21 SLC33A1 PLEKHG4 ATXN8OS ALDH18A1
44 paraplegia 8.9 ZFYVE26 WASHC5 SPG21 SLC33A1 ALDH18A1
45 spastic paraplegia 37, autosomal dominant 8.3 ZFYVE26 WASHC5 SPG21 SLC33A1 PLEKHG4 ATXN8OS
46 spastic paraplegia 25, autosomal recessive 8.3 ZFYVE26 WASHC5 SPG21 SLC33A1 PLEKHG4 ATXN8OS
47 spastic paraplegia 34, x-linked 8.3 ZFYVE26 WASHC5 SPG21 SLC33A1 PLEKHG4 ATXN8OS
48 spastic paraplegia 19, autosomal dominant 8.0 ZFYVE26 WASHC5 SPG21 SLC33A1 PLEKHG4 ATXN8OS
49 spastic paraplegia 16, x-linked 8.0 ZFYVE26 WASHC5 SPG21 SLC33A1 PLEKHG4 ATXN8OS

Graphical network of the top 20 diseases related to Spastic Paraplegia 29, Autosomal Dominant:



Diseases related to Spastic Paraplegia 29, Autosomal Dominant

Symptoms & Phenotypes for Spastic Paraplegia 29, Autosomal Dominant

Human phenotypes related to Spastic Paraplegia 29, Autosomal Dominant:

58 31 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 babinski sign 58 31 hallmark (90%) Very frequent (99-80%) HP:0003487
2 lower limb hyperreflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002395
3 hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000365
4 pes cavus 58 31 frequent (33%) Frequent (79-30%) HP:0001761
5 hiatus hernia 58 31 frequent (33%) Frequent (79-30%) HP:0002036
6 hyperbilirubinemia 58 31 frequent (33%) Frequent (79-30%) HP:0002904
7 clonus 58 31 occasional (7.5%) Occasional (29-5%) HP:0002169
8 impaired vibratory sensation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002495
9 abnormality of the lower urinary tract 58 31 occasional (7.5%) Occasional (29-5%) HP:0010936
10 hyperreflexia in upper limbs 58 31 occasional (7.5%) Occasional (29-5%) HP:0007350
11 abnormality of the rectum 58 31 very rare (1%) Very rare (<4-1%) HP:0002034
12 impaired proprioception 58 31 very rare (1%) Very rare (<4-1%) HP:0010831
13 seizure 31 very rare (1%) HP:0001250
14 seizures 58 Very rare (<4-1%)
15 sensorineural hearing impairment 31 HP:0000407
16 vomiting 31 HP:0002013
17 hernia 58 Frequent (79-30%)
18 spastic paraplegia 31 HP:0001258
19 hyperactivity 31 HP:0000752
20 urinary incontinence 31 HP:0000020
21 urinary urgency 31 HP:0000012
22 urinary hesitancy 31 HP:0000019
23 neonatal hyperbilirubinemia 31 HP:0003265
24 nocturia 31 HP:0000017
25 upper limb spasticity 31 HP:0006986

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
hyperreflexia
clonus
spastic paraplegia
lower limb spasticity
upper limb spasticity
more
Genitourinary Bladder:
urinary urgency
nocturia
detrusor muscle hyperactivity
hesitancy
diminished force of urine stream

Head And Neck Ears:
hearing loss, sensorineural, due to auditory neuropathy

Laboratory Abnormalities:
hyperbilirubinemia, neonatal

Skeletal Feet:
pes cavus

Abdomen Gastrointestinal:
persistent vomiting
hiatal hernia
sliding hernia
paraesophageal hernia

Neurologic Peripheral Nervous System:
decreased vibratory sense (less common)
decreased joint position sense (less common)

Clinical features from OMIM:

609727

UMLS symptoms related to Spastic Paraplegia 29, Autosomal Dominant:


clonus, urgency of micturition, persistent vomiting

Drugs & Therapeutics for Spastic Paraplegia 29, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 29, Autosomal Dominant

Genetic Tests for Spastic Paraplegia 29, Autosomal Dominant

Anatomical Context for Spastic Paraplegia 29, Autosomal Dominant

Publications for Spastic Paraplegia 29, Autosomal Dominant

Articles related to Spastic Paraplegia 29, Autosomal Dominant:

# Title Authors PMID Year
1
New locus for hereditary spastic paraplegia maps to chromosome 1p31.1-1p21.1. 56 61
16130112 2005
2
Hereditary Spastic Paraplegia Overview 6
20301682 2000
3
A novel candidate locus on chromosome 11p14.1-p11.2 for autosomal dominant hereditary spastic paraplegia. 61
18364116 2008
4
In Saccharomyces cerevisiae deletion of phosphoglucose isomerase can be suppressed by increased activities of enzymes of the hexose monophosphate pathway. 61
7704269 1995

Variations for Spastic Paraplegia 29, Autosomal Dominant

Expression for Spastic Paraplegia 29, Autosomal Dominant

Search GEO for disease gene expression data for Spastic Paraplegia 29, Autosomal Dominant.

Pathways for Spastic Paraplegia 29, Autosomal Dominant

GO Terms for Spastic Paraplegia 29, Autosomal Dominant

Sources for Spastic Paraplegia 29, 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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