MCID: SPS118
MIFTS: 27

Spastic Paraplegia 36, Autosomal Dominant

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

Aliases & Classifications for Spastic Paraplegia 36, Autosomal Dominant

MalaCards integrated aliases for Spastic Paraplegia 36, Autosomal Dominant:

Name: Spastic Paraplegia 36, Autosomal Dominant 57 29 73
Spg36 57 12 59
Autosomal Dominant Spastic Paraplegia Type 36 12 59
Hereditary Spastic Paraplegia 36 12 15
Autosomal Dominant Spastic Paraplegia 36 12

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant spastic paraplegia type 36
Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
patients may become wheelchair-bound
mean age at onset 24 years (range 14 to 33 years)


HPO:

32
spastic paraplegia 36, autosomal dominant:
Onset and clinical course progressive
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 613096
Disease Ontology 12 DOID:0110787
ICD10 33 G11.4
Orphanet 59 ORPHA320365
ICD10 via Orphanet 34 G11.4
UMLS via Orphanet 74 C2936879
MedGen 42 C2936879
UMLS 73 C2936879

Summaries for Spastic Paraplegia 36, Autosomal Dominant

Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in variation in the chromosome region 12q23-q24.

MalaCards based summary : Spastic Paraplegia 36, Autosomal Dominant, also known as spg36, is related to spastic paraplegia 10, and has symptoms including urgency of micturition An important gene associated with Spastic Paraplegia 36, Autosomal Dominant is SPG36 (Spastic Paraplegia 36 (Autosomal Dominant)). Related phenotypes are hyperreflexia and arthritis

Description from OMIM: 613096

Related Diseases for Spastic Paraplegia 36, 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 36, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 10 10.9

Symptoms & Phenotypes for Spastic Paraplegia 36, Autosomal Dominant

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
hyperreflexia
lower limb spasticity
spastic gait
extensor plantar responses
lower limb weakness

Genitourinary Bladder:
urinary incontinence
urinary urgency

Skeletal Feet:
pes cavus

Neurologic Peripheral Nervous System:
decreased vibratory sense in the lower limbs
decreased proprioception in the lower limbs
demyelinating motor and sensory neuropathy


Clinical features from OMIM:

613096

Human phenotypes related to Spastic Paraplegia 36, Autosomal Dominant:

59 32 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperreflexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001347
2 arthritis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001369
3 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
4 babinski sign 59 32 hallmark (90%) Very frequent (99-80%) HP:0003487
5 pes cavus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001761
6 spastic gait 59 32 hallmark (90%) Very frequent (99-80%) HP:0002064
7 progressive spastic paraplegia 59 32 hallmark (90%) Very frequent (99-80%) HP:0007020
8 urinary incontinence 59 32 frequent (33%) Frequent (79-30%) HP:0000020
9 distal muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0002460
10 proximal muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0003701
11 urinary urgency 59 32 frequent (33%) Frequent (79-30%) HP:0000012
12 impaired distal proprioception 59 32 frequent (33%) Frequent (79-30%) HP:0006858
13 impaired distal vibration sensation 59 32 frequent (33%) Frequent (79-30%) HP:0006886
14 impaired distal tactile sensation 59 32 frequent (33%) Frequent (79-30%) HP:0006937
15 demyelinating motor neuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0007220
16 impaired temperature sensation 59 32 frequent (33%) Frequent (79-30%) HP:0010829
17 demyelinating sensory neuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0011402
18 dementia 59 Excluded (0%)
19 spastic paraplegia 32 HP:0001258
20 abnormal brainstem mri signal intensity 59 Excluded (0%)
21 lower limb spasticity 59 Very frequent (99-80%)
22 impaired vibration sensation in the lower limbs 32 HP:0002166
23 lower limb muscle weakness 32 HP:0007340

UMLS symptoms related to Spastic Paraplegia 36, Autosomal Dominant:


urgency of micturition

Drugs & Therapeutics for Spastic Paraplegia 36, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 36, Autosomal Dominant

Genetic Tests for Spastic Paraplegia 36, Autosomal Dominant

Genetic tests related to Spastic Paraplegia 36, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Spastic Paraplegia 36, Autosomal Dominant 29

Anatomical Context for Spastic Paraplegia 36, Autosomal Dominant

Publications for Spastic Paraplegia 36, Autosomal Dominant

Variations for Spastic Paraplegia 36, Autosomal Dominant

Expression for Spastic Paraplegia 36, Autosomal Dominant

Search GEO for disease gene expression data for Spastic Paraplegia 36, Autosomal Dominant.

Pathways for Spastic Paraplegia 36, Autosomal Dominant

GO Terms for Spastic Paraplegia 36, Autosomal Dominant

Sources for Spastic Paraplegia 36, 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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