SPG29
MCID: SPS094
MIFTS: 29

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, 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 58 13 74
Spg29 58 12 60
Hereditary Spastic Paraplegia 29 12 15
Autosomal Dominant Spastic Paraplegia Type 29 60
Autosomal Dominant Spastic Paraplegia 29 12

Characteristics:

Orphanet epidemiological data:

60
autosomal dominant spastic paraplegia type 29
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
genetic anticipation
mean age at onset 15.2 years


HPO:

33
spastic paraplegia 29, autosomal dominant:
Inheritance genetic anticipation autosomal dominant inheritance


Classifications:

Orphanet: 60  
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 cone-rod dystrophy and hearing loss 2, 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)). Affiliated tissues include skin, bone and eye, and related phenotypes are babinski sign and lower limb hyperreflexia

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, 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 Hereditary Spastic Paraplegia 23
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 47
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 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:

# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 29 11.5
2 cone-rod dystrophy and hearing loss 2 11.1
3 spastic paraplegia 10 11.1
4 hereditary spastic paraplegia 9.5 ALDH18A1 SNX7

Symptoms & Phenotypes for Spastic Paraplegia 29, Autosomal Dominant

Human phenotypes related to Spastic Paraplegia 29, Autosomal Dominant:

60 33 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 babinski sign 60 33 hallmark (90%) Very frequent (99-80%) HP:0003487
2 lower limb hyperreflexia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002395
3 hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000365
4 pes cavus 60 33 frequent (33%) Frequent (79-30%) HP:0001761
5 hyperbilirubinemia 60 33 frequent (33%) Frequent (79-30%) HP:0002904
6 hiatus hernia 60 33 frequent (33%) Frequent (79-30%) HP:0002036
7 clonus 60 33 occasional (7.5%) Occasional (29-5%) HP:0002169
8 hyperreflexia in upper limbs 60 33 occasional (7.5%) Occasional (29-5%) HP:0007350
9 impaired vibratory sensation 60 33 occasional (7.5%) Occasional (29-5%) HP:0002495
10 abnormality of the lower urinary tract 60 33 occasional (7.5%) Occasional (29-5%) HP:0010936
11 seizures 60 33 very rare (1%) Very rare (<4-1%) HP:0001250
12 impaired proprioception 60 33 very rare (1%) Very rare (<4-1%) HP:0010831
13 abnormality of the rectum 60 33 very rare (1%) Very rare (<4-1%) HP:0002034
14 sensorineural hearing impairment 33 HP:0000407
15 vomiting 33 HP:0002013
16 hernia 60 Frequent (79-30%)
17 spastic paraplegia 33 HP:0001258
18 urinary urgency 33 HP:0000012
19 urinary incontinence 33 HP:0000020
20 hyperactivity 33 HP:0000752
21 neonatal hyperbilirubinemia 33 HP:0003265
22 nocturia 33 HP:0000017
23 urinary hesitancy 33 HP:0000019
24 upper limb spasticity 33 HP:0006986

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
hyperreflexia
clonus
spastic paraplegia
lower limb spasticity
upper limb spasticity
more
Genitourinary Bladder:
urinary urgency
nocturia
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:
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

MalaCards organs/tissues related to Spastic Paraplegia 29, Autosomal Dominant:

42
Skin, Bone, Eye

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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