SPG32
MCID: SPS123
MIFTS: 34

Spastic Paraplegia 32, Autosomal Recessive (SPG32)

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 32, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 32, Autosomal Recessive:

Name: Spastic Paraplegia 32, Autosomal Recessive 56 13 71
Spg32 56 12 58
Autosomal Recessive Spastic Paraplegia Type 32 12 58
Hereditary Spastic Paraplegia 32 12 15
Autosomal Recessive Spastic Paraplegia 32 12

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive spastic paraplegia type 32
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

56
Miscellaneous:
slow progression
onset in childhood

Inheritance:
autosomal recessive


HPO:

31
spastic paraplegia 32, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course slow progression childhood onset


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110783
OMIM 56 611252
OMIM Phenotypic Series 56 PS303350
ICD10 32 G11.4
ICD10 via Orphanet 33 G11.4
UMLS via Orphanet 72 C1970009
Orphanet 58 ORPHA171622
MedGen 41 C1970009
UMLS 71 C1970009

Summaries for Spastic Paraplegia 32, Autosomal Recessive

Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in variation in the chromosome region 14q12-q21.

MalaCards based summary : Spastic Paraplegia 32, Autosomal Recessive, also known as spg32, is related to spasticity and paraplegia. An important gene associated with Spastic Paraplegia 32, Autosomal Recessive is SPG32 (Spastic Paraplegia 32 (Autosomal Recessive)), and among its related pathways/superpathways are Clathrin derived vesicle budding and Lysosome. Affiliated tissues include pons, and related phenotypes are intellectual disability, mild and pes cavus

More information from OMIM: 611252 PS303350

Related Diseases for Spastic Paraplegia 32, Autosomal Recessive

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 32, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 65)
# Related Disease Score Top Affiliating Genes
1 spasticity 29.3 WASHC5 SPG7
2 paraplegia 27.2 WASHC5 SPG7 SPG21 SPG11 SLC33A1 AP4S1
3 spastic paraplegia 32 11.6
4 spastic paraplegia 5a 11.3
5 hereditary spastic paraplegia 72 10.2 SPG21 SPG11
6 spastic paraplegia 64, autosomal recessive 10.2 SPG21 SPG11
7 spastic paraplegia 61, autosomal recessive 10.2 SPG21 SPG11
8 complex hereditary spastic paraplegia 10.2 SPG7 SPG11
9 spastic paraplegia 55, autosomal recessive 10.1 SPG21 SPG11
10 spastic paraplegia 5a, autosomal recessive 10.1 SPG7 SPG11
11 mast syndrome 10.1 SPG21 SPG11
12 spastic paraplegia 27, autosomal recessive 10.0 SPG21 SLC33A1
13 spastic paraplegia 49, autosomal recessive 10.0 SPG21 SPG11 AP4E1
14 spastic paraplegia 54, autosomal recessive 10.0 SPG7 SPG21 SPG11
15 spastic paraplegia 46, autosomal recessive 10.0 SPG7 SPG21 SPG11
16 spastic paraplegia 11, autosomal recessive 10.0 SPG7 SPG21 SPG11
17 spastic paraplegia 20, autosomal recessive 9.9 SPG7 SPG21 SPG11
18 spastic paraparesis 9.9 SPG7 SPG11
19 spastic paraplegia 14, autosomal recessive 9.9 SPG21 SPG11 SLC33A1
20 spastic paraplegia 44, autosomal recessive 9.9 SPG21 SPG11 SLC33A1
21 spastic paraplegia 26, autosomal recessive 9.9 SPG21 SPG11 SLC33A1
22 autosomal dominant non-syndromic intellectual disability 9 9.8 AP4S1 AP4B1
23 hypertonia 9.8 AP4S1 AP4B1
24 spastic paraplegia 45, autosomal recessive 9.7 ZFR SPG21 SPG11 AP4E1
25 spastic paraplegia 33, autosomal dominant 9.7 WASHC5 SPG21 SPG11
26 ap-4-associated hereditary spastic paraplegia 9.7 AP4S1 AP4E1 AP4B1
27 spastic paraplegia 12, autosomal dominant 9.6 WASHC5 SPG21 SPG11
28 spastic paraplegia 51, autosomal recessive 9.6 AP4S1 AP4E1 AP4B1
29 spastic paraplegia 56, autosomal recessive 9.6 SPG7 SPG21 SPG11 AP4S1
30 spastic paraplegia 13, autosomal dominant 9.6 SPG7 SPG21 SPG11 SLC33A1
31 spastic paraplegia 17, autosomal dominant 9.6 WASHC5 SPG21 SPG11
32 neuropathy, hereditary sensory, type iic 9.6 SPG21 SPG11 AP4E1 AP4B1
33 spastic paraplegia, optic atrophy, and neuropathy 9.6 WASHC5 AP4S1
34 quadriplegia 9.6 AP4S1 AP4E1 AP4B1
35 spastic paraplegia 29, autosomal dominant 9.5 WASHC5 SPG21 SLC33A1
36 spastic paraplegia 25, autosomal recessive 9.5 WASHC5 SPG21 SLC33A1
37 spastic paraplegia 19, autosomal dominant 9.5 WASHC5 SPG21 SLC33A1
38 spastic paraplegia 3, autosomal dominant 9.5 WASHC5 SPG11
39 spastic paraplegia 37, autosomal dominant 9.5 WASHC5 SPG21 SLC33A1
40 spastic paraplegia 34, x-linked 9.5 WASHC5 SPG21 SLC33A1
41 spastic paraplegia 43, autosomal recessive 9.5 WASHC5 SPG11 SLC33A1
42 spastic paraplegia 42, autosomal dominant 9.5 WASHC5 SPG11 SLC33A1
43 spastic paraplegia 48, autosomal recessive 9.4 WASHC5 SPG21 SPG11 AP4E1
44 spastic paraplegia 63, autosomal recessive 9.4 ZFR SPG7 SPG21 SPG11 AP4E1
45 cerebral palsy 9.4 AP4S1 AP4E1 AP4B1
46 spastic paraplegia 18, autosomal recessive 9.4 WASHC5 SPG7 SPG21 SPG11
47 spastic paraplegia 31, autosomal dominant 9.4 WASHC5 SPG7 SPG21 SPG11
48 spastic paraplegia 15, autosomal recessive 9.4 WASHC5 SPG7 SPG21 SPG11
49 spastic paraplegia 35, autosomal recessive 9.4 WASHC5 SPG7 SPG21 SPG11
50 spastic paraplegia 10, autosomal dominant 9.4 WASHC5 SPG7 SPG21 SPG11

Graphical network of the top 20 diseases related to Spastic Paraplegia 32, Autosomal Recessive:



Diseases related to Spastic Paraplegia 32, Autosomal Recessive

Symptoms & Phenotypes for Spastic Paraplegia 32, Autosomal Recessive

Human phenotypes related to Spastic Paraplegia 32, Autosomal Recessive:

58 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability, mild 58 31 obligate (100%) Obligate (100%) HP:0001256
2 pes cavus 58 31 obligate (100%) Obligate (100%) HP:0001761
3 difficulty walking 58 31 obligate (100%) Obligate (100%) HP:0002355
4 specific learning disability 58 31 frequent (33%) Frequent (79-30%) HP:0001328
5 progressive spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0002191
6 babinski sign 58 31 frequent (33%) Frequent (79-30%) HP:0003487
7 hypoplasia of the corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0002079
8 progressive spastic paraplegia 58 31 frequent (33%) Frequent (79-30%) HP:0007020
9 cerebellar cortical atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0008278
10 impaired vibration sensation in the lower limbs 58 31 frequent (33%) Frequent (79-30%) HP:0002166
11 lower limb hyperreflexia 58 31 frequent (33%) Frequent (79-30%) HP:0002395
12 progressive peripheral neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0007133
13 abnormality of the pons 58 31 frequent (33%) Frequent (79-30%) HP:0007361
14 spastic paraplegia 31 HP:0001258
15 cerebellar atrophy 31 HP:0001272
16 cerebral atrophy 31 HP:0002059
17 spastic gait 31 HP:0002064
18 ankle clonus 31 HP:0011448
19 lower limb muscle weakness 31 HP:0007340

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
hyperreflexia
cerebellar atrophy
cerebral atrophy
lower limb spasticity
difficulty walking
more
Skeletal Feet:
pes cavus

Clinical features from OMIM:

611252

MGI Mouse Phenotypes related to Spastic Paraplegia 32, Autosomal Recessive:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.17 AP4B1 AP4E1 HECTD1 SLC33A1 SPG11 SPG7

Drugs & Therapeutics for Spastic Paraplegia 32, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 32, Autosomal Recessive

Genetic Tests for Spastic Paraplegia 32, Autosomal Recessive

Anatomical Context for Spastic Paraplegia 32, Autosomal Recessive

MalaCards organs/tissues related to Spastic Paraplegia 32, Autosomal Recessive:

40
Pons

Publications for Spastic Paraplegia 32, Autosomal Recessive

Articles related to Spastic Paraplegia 32, Autosomal Recessive:

# Title Authors PMID Year
1
A new locus for autosomal recessive spastic paraplegia (SPG32) on chromosome 14q12-q21. 56 61
17515546 2007
2
Hereditary Spastic Paraplegia Overview 6
20301682 2000
3
A new locus (SPG46) maps to 9p21.2-q21.12 in a Tunisian family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum. 61
20593214 2010

Variations for Spastic Paraplegia 32, Autosomal Recessive

Expression for Spastic Paraplegia 32, Autosomal Recessive

Search GEO for disease gene expression data for Spastic Paraplegia 32, Autosomal Recessive.

Pathways for Spastic Paraplegia 32, Autosomal Recessive

Pathways related to Spastic Paraplegia 32, Autosomal Recessive according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.51 AP4S1 AP4E1 AP4B1
2 10.91 AP4S1 AP4E1 AP4B1

GO Terms for Spastic Paraplegia 32, Autosomal Recessive

Cellular components related to Spastic Paraplegia 32, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 trans-Golgi network membrane GO:0032588 9.33 AP4S1 AP4E1 AP4B1
2 membrane coat GO:0030117 9.26 AP4E1 AP4B1
3 endosome lumen GO:0031904 9.13 AP4S1 AP4E1 AP4B1
4 AP-4 adaptor complex GO:0030124 8.8 AP4S1 AP4E1 AP4B1

Biological processes related to Spastic Paraplegia 32, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intracellular protein transport GO:0006886 9.54 AP4S1 AP4E1 AP4B1
2 vesicle-mediated transport GO:0016192 9.5 AP4S1 AP4E1 AP4B1
3 protein transport GO:0015031 9.46 WASHC5 AP4S1 AP4E1 AP4B1
4 lysosome organization GO:0007040 9.26 WASHC5 SPG11
5 protein localization GO:0008104 9.13 AP4S1 AP4E1 AP4B1
6 protein targeting GO:0006605 8.8 AP4S1 AP4E1 AP4B1

Sources for Spastic Paraplegia 32, Autosomal Recessive

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
Content
Loading form....