SPG32
MCID: SPS123
MIFTS: 32

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, 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 58 74
Spg32 58 12 60
Autosomal Recessive Spastic Paraplegia Type 32 12 60
Hereditary Spastic Paraplegia 32 12 15
Autosomal Recessive Spastic Paraplegia 32 12

Characteristics:

Orphanet epidemiological data:

60
autosomal recessive spastic paraplegia type 32
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in childhood
slow progression


HPO:

33
spastic paraplegia 32, autosomal recessive:
Onset and clinical course childhood onset slow progression
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110783
OMIM 58 611252
ICD10 34 G11.4
ICD10 via Orphanet 35 G11.4
UMLS via Orphanet 75 C1970009
Orphanet 60 ORPHA171622
MedGen 43 C1970009
UMLS 74 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)). Affiliated tissues include pons, skin and bone, and related phenotypes are intellectual disability, mild and babinski sign

Description from OMIM: 611252

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

(show all 23)
# Related Disease Score Top Affiliating Genes
1 paraplegia 29.5 ATL1 SPG11 SPG21 SPG7
2 spastic paraplegia 32 11.5
3 cone-rod dystrophy and hearing loss 2 11.1
4 spastic paraplegia 5a 11.1
5 spastic paraplegia 48, autosomal recessive 10.1 SPG11 SPG21
6 mast syndrome 10.1 SPG11 SPG21
7 amyotrophic lateral sclerosis type 5 10.1 SPG11 SPG21
8 spastic paraplegia 46, autosomal recessive 10.1 SPG11 SPG21
9 spastic paraplegia 24, autosomal recessive 10.0 SPG21 SPG7
10 spastic paraplegia 31, autosomal dominant 10.0 ATL1 SPG11
11 spastic paraplegia 35, autosomal recessive 10.0 SPG11 SPG21
12 spastic paraplegia 8, autosomal dominant 10.0 ATL1 SPG11
13 spastic paraplegia 10, autosomal dominant 10.0 ATL1 SPG11
14 masa syndrome 10.0 ATL1 SPG11
15 spastic paraplegia 3, autosomal dominant 9.9 ATL1 SPG11
16 spastic paraplegia 49, autosomal recessive 9.9 SPG11 SPG7
17 cerebral palsy 9.8 ATL1 IL1B
18 spastic paraparesis 9.8 SPG11 SPG7
19 spastic paraplegia 15, autosomal recessive 9.7 SPG11 SPG21 SPG7
20 charcot-marie-tooth disease, axonal, type 2e 9.7 SPG11 SPG21
21 spastic paraplegia 11, autosomal recessive 9.7 SPG11 SPG21 SPG7
22 spastic paraplegia 4, autosomal dominant 9.7 ATL1 SPG11 SPG7
23 hereditary spastic paraplegia 9.5 ATL1 SPG11 SPG21 SPG7

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:

60 33 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability, mild 60 33 Obligate (100%) HP:0001256
2 babinski sign 60 33 Frequent (79-30%) HP:0003487
3 pes cavus 60 33 Obligate (100%) HP:0001761
4 difficulty walking 60 33 Obligate (100%) HP:0002355
5 hypoplasia of the corpus callosum 60 33 Frequent (79-30%) HP:0002079
6 specific learning disability 60 Frequent (79-30%)
7 spastic paraplegia 33 HP:0001258
8 cerebellar atrophy 33 HP:0001272
9 progressive spasticity 60 Frequent (79-30%)
10 lower limb muscle weakness 33 HP:0007340
11 impaired vibration sensation in the lower limbs 60 Frequent (79-30%)
12 ankle clonus 33 HP:0011448
13 progressive spastic paraplegia 60 Frequent (79-30%)
14 spastic gait 33 HP:0002064
15 cerebellar cortical atrophy 60 Frequent (79-30%)
16 abnormality of the pons 60 Frequent (79-30%)
17 lower limb hyperreflexia 60 Frequent (79-30%)
18 progressive peripheral neuropathy 60 Frequent (79-30%)
19 cerebral atrophy 33 HP:0002059

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
hyperreflexia
difficulty walking
cerebellar atrophy
lower limb spasticity
ankle clonus
more
Skeletal Feet:
pes cavus

Clinical features from OMIM:

611252

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:

42
Pons, Skin, Bone, Eye

Publications for Spastic Paraplegia 32, Autosomal Recessive

Articles related to Spastic Paraplegia 32, Autosomal Recessive:

# Title Authors Year
1
A new locus for autosomal recessive spastic paraplegia (SPG32) on chromosome 14q12-q21. ( 17515546 )
2007

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

GO Terms for Spastic Paraplegia 32, Autosomal Recessive

Sources for Spastic Paraplegia 32, Autosomal Recessive

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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