SPG32
MCID: SPS123
MIFTS: 35

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 paraplegia and spastic paraplegia 32. 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, eye and bone, 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 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 23 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:

(showing 72, show less)
# Related Disease Score Top Affiliating Genes
1 paraplegia 27.2 ZFYVE26 SPG7 SPG21 SPG11 SLC33A1 AP4S1
2 spastic paraplegia 32 11.6
3 spastic paraplegia 5a 11.2
4 spastic paraplegia 11 10.2
5 spasticity 10.2
6 complex hereditary spastic paraplegia 10.2 SPG7 SPG11
7 spastic paraplegia 30, autosomal recessive 10.2 SPG21 SPG11
8 spastic paraplegia 28, autosomal recessive 10.1 SPG7 SPG11
9 mast syndrome 10.1 SPG21 SPG11
10 spastic paraplegia 77, autosomal recessive 10.1 ZFYVE26 SPG11
11 charcot-marie-tooth disease, axonal, type 2r 10.1 ZFYVE26 SPG21
12 spinocerebellar ataxia, autosomal recessive 20 10.1 ZFYVE26 SPG11
13 spastic paraplegia 24, autosomal recessive 10.1 SPG7 SPG21
14 spastic paraplegia 45, autosomal recessive 10.1 ZFR SPG21
15 amyotrophic lateral sclerosis type 5 10.1 ZFYVE26 SPG11
16 spastic paraplegia 64, autosomal recessive 10.0 SPG7 SPG21 SPG11
17 spastic paraplegia 54, autosomal recessive 10.0 SPG7 SPG21 SPG11
18 charcot-marie-tooth disease, axonal, type 2t 10.0 ZFYVE26 SPG21
19 hereditary spastic paraplegia 72 10.0 ZFYVE26 SPG21 SPG11
20 hypertonia 10.0 AP4S1 AP4B1
21 spastic paraplegia 49, autosomal recessive 10.0 ZFYVE26 SPG21 SPG11
22 spastic paraplegia 55, autosomal recessive 10.0 ZFYVE26 SPG21 SPG11
23 spastic paraplegia 48, autosomal recessive 10.0 ZFYVE26 SPG21 SPG11
24 spastic paraplegia 17, autosomal dominant 9.9 ZFYVE26 SPG21 SPG11
25 spastic paraparesis 9.9 SPG7 SPG11
26 autosomal dominant non-syndromic intellectual disability 9 9.9 ZFYVE26 AP4S1
27 spastic paraplegia 63, autosomal recessive 9.9 ZFR SPG21 SPG11
28 spastic paraplegia 5a, autosomal recessive 9.9 ZFYVE26 SPG7 SPG11
29 spastic paraplegia 27, autosomal recessive 9.9 SPG21 SLC33A1
30 spastic paraplegia 33, autosomal dominant 9.9 SPG21 SLC33A1
31 spastic paraplegia 3, autosomal dominant 9.8 ZFYVE26 SPG11
32 spastic paraplegia 18, autosomal recessive 9.7 ZFYVE26 SPG7 SPG21 SPG11
33 spastic paraplegia 46, autosomal recessive 9.7 ZFYVE26 SPG7 SPG21 SPG11
34 spastic paraplegia 35, autosomal recessive 9.7 ZFYVE26 SPG7 SPG21 SPG11
35 spastic paraplegia 31, autosomal dominant 9.7 ZFYVE26 SPG7 SPG21 SPG11
36 spastic paraplegia 15, autosomal recessive 9.7 ZFYVE26 SPG7 SPG21 SPG11
37 neuropathy, hereditary sensory, type iic 9.7 SPG21 SPG11 AP4E1 AP4B1
38 spastic paraplegia 10, autosomal dominant 9.7 ZFYVE26 SPG7 SPG21 SPG11
39 spastic paraplegia 20, autosomal recessive 9.7 ZFYVE26 SPG7 SPG21 SPG11
40 masa syndrome 9.7 ZFYVE26 SPG7 SPG21 SPG11
41 ap-4-associated hereditary spastic paraplegia 9.7 AP4S1 AP4E1 AP4B1
42 spastic paraplegia 51, autosomal recessive 9.7 AP4S1 AP4E1 AP4B1
43 spastic paraplegia 34, x-linked 9.6 ZFYVE26 SPG21 SLC33A1
44 spastic paraplegia 56, autosomal recessive 9.6 SPG21 SPG11 AP4S1 AP4B1
45 spastic paraplegia 29, autosomal dominant 9.6 ZFYVE26 SPG21 SLC33A1
46 spastic paraplegia 13, autosomal dominant 9.6 SPG7 SLC33A1
47 spastic paraplegia 37, autosomal dominant 9.6 ZFYVE26 SPG21 SLC33A1
48 spastic paraplegia 25, autosomal recessive 9.6 ZFYVE26 SPG21 SLC33A1
49 quadriplegia 9.6 AP4S1 AP4E1 AP4B1
50 spastic paraplegia 19, autosomal dominant 9.6 ZFYVE26 SPG21 SLC33A1
51 cerebral palsy 9.6 AP4S1 AP4E1 AP4B1
52 spastic paraplegia 44, autosomal recessive 9.6 ZFYVE26 SPG21 SLC33A1
53 spastic paraplegia 43, autosomal recessive 9.6 ZFYVE26 SPG11 SLC33A1
54 spastic paraplegia 42, autosomal dominant 9.5 ZFYVE26 SPG11 SLC33A1
55 charcot-marie-tooth disease, axonal, type 2e 9.4 ZFYVE26 SPG21 SPG11
56 spastic paraplegia 11, autosomal recessive 9.4 ZFYVE26 SPG7 SPG21 SPG11 AP4B1
57 spastic paraplegia 2, x-linked 9.4 ZFYVE26 SPG7 SPG21 SPG11 AP4B1
58 spastic paraplegia 16, x-linked 9.4 ZFYVE26 SPG21 SPG11 SLC33A1
59 spastic paraplegia 14, autosomal recessive 9.4 ZFYVE26 SPG21 SPG11 SLC33A1
60 spastic paraplegia 39, autosomal recessive 9.4 ZFYVE26 SPG21 SPG11 SLC33A1
61 spastic paraplegia 12, autosomal dominant 9.4 ZFYVE26 SPG21 SPG11 SLC33A1
62 spastic paraplegia 26, autosomal recessive 9.4 ZFYVE26 SPG21 SPG11 SLC33A1
63 spastic paraplegia 6, autosomal dominant 9.4 ZFYVE26 SPG21 SPG11 SLC33A1
64 spastic paraplegia 8, autosomal dominant 9.4 ZFYVE26 SPG21 SPG11 SLC33A1
65 hereditary spastic paraplegia 51 9.1 ZFYVE26 SPG11 AP4S1 AP4E1 AP4B1
66 spastic paraplegia 50, autosomal recessive 9.1 ZFYVE26 SPG11 AP4S1 AP4E1 AP4B1
67 spastic paraplegia 4, autosomal dominant 9.1 ZFYVE26 SPG7 SPG21 SPG11 SLC33A1
68 spastic paraplegia 53, autosomal recessive 9.1 SLC33A1 AP4S1 AP4E1 AP4B1
69 hereditary spastic paraplegia 23 9.0 ZFYVE26 ZFR SPG21 SPG11 SLC33A1
70 spastic paraplegia 47, autosomal recessive 8.9 ZFYVE26 SPG21 SPG11 AP4S1 AP4E1 AP4B1
71 spastic paraplegia 52, autosomal recessive 8.5 ZFYVE26 ZFR SPG21 SPG11 AP4S1 AP4E1
72 hereditary spastic paraplegia 7.5 ZFYVE26 ZFR SPG7 SPG21 SPG11 SLC33A1

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 (showing 19, show less)
# 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 babinski sign 58 31 frequent (33%) Frequent (79-30%) HP:0003487
6 hypoplasia of the corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0002079
7 progressive spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0002191
8 impaired vibration sensation in the lower limbs 58 31 frequent (33%) Frequent (79-30%) HP:0002166
9 progressive spastic paraplegia 58 31 frequent (33%) Frequent (79-30%) HP:0007020
10 cerebellar cortical atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0008278
11 abnormality of the pons 58 31 frequent (33%) Frequent (79-30%) HP:0007361
12 lower limb hyperreflexia 58 31 frequent (33%) Frequent (79-30%) HP:0002395
13 progressive peripheral neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0007133
14 spastic paraplegia 31 HP:0001258
15 cerebellar atrophy 31 HP:0001272
16 lower limb muscle weakness 31 HP:0007340
17 ankle clonus 31 HP:0011448
18 spastic gait 31 HP:0002064
19 cerebral atrophy 31 HP:0002059

Symptoms via clinical synopsis from OMIM:

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

Clinical features from OMIM:

611252

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

45 (showing 1, show less)
# 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, Eye, Bone, Skin

Publications for Spastic Paraplegia 32, Autosomal Recessive

Articles related to Spastic Paraplegia 32, Autosomal Recessive:

(showing 3, show less)
# Title Authors PMID Year
1
A new locus for autosomal recessive spastic paraplegia (SPG32) on chromosome 14q12-q21. 61 56
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:

(showing 2, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.51 AP4S1 AP4E1 AP4B1
2 10.89 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:

(showing 4, show less)
# 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:

(showing 3, show less)
# Name GO ID Score Top Affiliating Genes
1 vesicle-mediated transport GO:0016192 9.33 AP4S1 AP4E1 AP4B1
2 protein localization GO:0008104 9.13 AP4S1 AP4E1 AP4B1
3 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
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