SPG36
MCID: SPS118
MIFTS: 26

Spastic Paraplegia 36, Autosomal Dominant (SPG36)

Categories: Bone diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases, Skin 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 13 70
Spg36 57 12 58
Autosomal Dominant Spastic Paraplegia Type 36 12 58
Hereditary Spastic Paraplegia 36 12 15
Autosomal Dominant Spastic Paraplegia 36 12

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant spastic paraplegia type 36
Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

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


HPO:

31
spastic paraplegia 36, autosomal dominant:
Inheritance autosomal dominant inheritance
Onset and clinical course progressive


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110787
OMIM® 57 613096
OMIM Phenotypic Series 57 PS303350
ICD10 32 G11.4
ICD10 via Orphanet 33 G11.4
UMLS via Orphanet 71 C2936879
Orphanet 58 ORPHA320365
MedGen 41 C2936879
UMLS 70 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 24, autosomal recessive and spastic paraplegia 27, autosomal recessive, 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 babinski sign

More information from OMIM: 613096 PS303350

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, 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
Spastic Paraplegia 83, 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 36, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 24, autosomal recessive 10.2 SPG21 KIF1C
2 spastic paraplegia 27, autosomal recessive 10.2 SPG21 KIF1C
3 hereditary spastic paraplegia 30 10.2 SPG21 KIF1C
4 hereditary spastic paraplegia 23 10.2 SPG21 KIF1C
5 spastic paraplegia 73, autosomal dominant 10.1 SPG21 KIF1C
6 spastic paraplegia 46, autosomal recessive 10.1 SPG21 KIF1C
7 spastic paraplegia 45, autosomal recessive 10.1 SPG21 KIF1C
8 charcot-marie-tooth disease, axonal, type 2b2 10.0 SPG21 HSPB8
9 spastic paraplegia 17, autosomal dominant 9.9 SPG21 HSPB8
10 capillary malformations, congenital 9.8 RHAG RBL2
11 spinal and bulbar muscular atrophy, x-linked 1 9.7 HSPB8 ATXN2

Graphical network of the top 20 diseases related to Spastic Paraplegia 36, Autosomal Dominant:



Diseases related to Spastic Paraplegia 36, Autosomal Dominant

Symptoms & Phenotypes for Spastic Paraplegia 36, Autosomal Dominant

Human phenotypes related to Spastic Paraplegia 36, Autosomal Dominant:

58 31 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperreflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001347
2 babinski sign 58 31 hallmark (90%) Very frequent (99-80%) HP:0003487
3 spastic gait 58 31 hallmark (90%) Very frequent (99-80%) HP:0002064
4 progressive spastic paraplegia 58 31 hallmark (90%) Very frequent (99-80%) HP:0007020
5 impaired distal proprioception 58 31 frequent (33%) Frequent (79-30%) HP:0006858
6 distal muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0002460
7 proximal muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003701
8 impaired temperature sensation 58 31 frequent (33%) Frequent (79-30%) HP:0010829
9 urinary incontinence 58 31 frequent (33%) Frequent (79-30%) HP:0000020
10 urinary urgency 58 31 frequent (33%) Frequent (79-30%) HP:0000012
11 impaired distal tactile sensation 58 31 frequent (33%) Frequent (79-30%) HP:0006937
12 impaired distal vibration sensation 58 31 frequent (33%) Frequent (79-30%) HP:0006886
13 demyelinating motor neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0007220
14 demyelinating sensory neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0011402
15 arthritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001369
16 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
17 pes cavus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001761
18 sensory neuropathy 31 HP:0000763
19 spastic paraplegia 31 HP:0001258
20 dementia 58 Excluded (0%)
21 lower limb spasticity 58 Very frequent (99-80%)
22 abnormal brainstem mri signal intensity 58 Excluded (0%)
23 lower limb muscle weakness 31 HP:0007340
24 impaired vibration sensation in the lower limbs 31 HP:0002166

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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

Anatomical Context for Spastic Paraplegia 36, Autosomal Dominant

Publications for Spastic Paraplegia 36, Autosomal Dominant

Articles related to Spastic Paraplegia 36, Autosomal Dominant:

# Title Authors PMID Year
1
Autosomal dominant spastic paraplegia with peripheral neuropathy maps to chr12q23-24. 57 61
19357379 2009

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

Molecular functions related to Spastic Paraplegia 36, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 tubulin binding GO:0015631 8.62 STMN4 IFT81

Sources for Spastic Paraplegia 36, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....