MCID: SPS094
MIFTS: 26

Spastic Paraplegia 29, Autosomal Dominant

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

Aliases & Classifications for Spastic Paraplegia 29, Autosomal Dominant

MalaCards integrated aliases for Spastic Paraplegia 29, Autosomal Dominant:

Name: Spastic Paraplegia 29, Autosomal Dominant 57 13 73
Spg29 57 12 59
Hereditary Spastic Paraplegia 29 12 15
Autosomal Dominant Spastic Paraplegia Type 29 59
Autosomal Dominant Spastic Paraplegia 29 12

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant spastic paraplegia type 29
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
genetic anticipation
mean age at onset 15.2 years


HPO:

32
spastic paraplegia 29, autosomal dominant:
Inheritance genetic anticipation autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


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 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 lower limb hyperreflexia and babinski sign

Description from OMIM: 609727

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

# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 29 11.3

Symptoms & Phenotypes for Spastic Paraplegia 29, Autosomal Dominant

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
hyperreflexia
clonus
spastic paraplegia
lower limb spasticity
upper limb spasticity
more
Genitourinary Bladder:
nocturia
urinary urgency
hesitancy
detrusor muscle hyperactivity
urge incontinence
more
Head And Neck Ears:
hearing loss, sensorineural, due to auditory neuropathy

Laboratory Abnormalities:
hyperbilirubinemia, neonatal

Skeletal Feet:
pes cavus

Abdomen Gastrointestinal:
hiatal hernia
sliding hernia
persistent vomiting
paraesophageal hernia

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


Clinical features from OMIM:

609727

Human phenotypes related to Spastic Paraplegia 29, Autosomal Dominant:

59 32 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 lower limb hyperreflexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002395
2 babinski sign 59 32 hallmark (90%) Very frequent (99-80%) HP:0003487
3 hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000365
4 pes cavus 59 32 frequent (33%) Frequent (79-30%) HP:0001761
5 hiatus hernia 59 32 frequent (33%) Frequent (79-30%) HP:0002036
6 hyperbilirubinemia 59 32 frequent (33%) Frequent (79-30%) HP:0002904
7 clonus 59 32 occasional (7.5%) Occasional (29-5%) HP:0002169
8 impaired vibratory sensation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002495
9 hyperreflexia in upper limbs 59 32 occasional (7.5%) Occasional (29-5%) HP:0007350
10 abnormality of the lower urinary tract 59 32 occasional (7.5%) Occasional (29-5%) HP:0010936
11 seizures 59 32 very rare (1%) Very rare (<4-1%) HP:0001250
12 abnormality of the rectum 59 32 very rare (1%) Very rare (<4-1%) HP:0002034
13 impaired proprioception 59 32 very rare (1%) Very rare (<4-1%) HP:0010831
14 hernia 59 Frequent (79-30%)
15 urinary urgency 32 HP:0000012
16 nocturia 32 HP:0000017
17 urinary hesitancy 32 HP:0000019
18 urinary incontinence 32 HP:0000020
19 sensorineural hearing impairment 32 HP:0000407
20 hyperactivity 32 HP:0000752
21 spastic paraplegia 32 HP:0001258
22 vomiting 32 HP:0002013
23 neonatal hyperbilirubinemia 32 HP:0003265
24 upper limb spasticity 32 HP:0006986

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

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 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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