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 57 13 73
Spg32 57 12 59
Autosomal Recessive Spastic Paraplegia Type 32 12 59
Hereditary Spastic Paraplegia 32 12 15
Autosomal Recessive Spastic Paraplegia 32 12

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive spastic paraplegia type 32
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in childhood
slow progression


HPO:

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


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 611252
Disease Ontology 12 DOID:0110783
ICD10 33 G11.4
Orphanet 59 ORPHA171622
UMLS via Orphanet 74 C1970009
ICD10 via Orphanet 34 G11.4
MedGen 42 C1970009
UMLS 73 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 skin, bone and eye, 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 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
Spastic Paraplegia Type 49 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 Autosomal Dominant Spastic Paraplegia Type 9b
Autosomal Dominant Spastic Paraplegia Type 9

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 29.7 ATL1 SPG11 SPG21 SPG7
2 spastic paraplegia 32 11.4
3 perrault syndrome 1 11.1
4 spastic paraplegia 5a 11.1
5 spastic paraplegia 48, autosomal recessive 10.1 SPG11 SPG21
6 mast syndrome 10.0 SPG11 SPG21
7 amyotrophic lateral sclerosis type 5 10.0 SPG11 SPG21
8 spastic paraplegia 46, autosomal recessive 10.0 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 10.0 ATL1 SPG11
16 spastic paraplegia 49, autosomal recessive 9.9 SPG11 SPG7
17 cerebral palsy 9.9 ATL1 IL1B
18 spastic paraparesis 9.9 SPG11 SPG7
19 spastic paraplegia 15, autosomal recessive 9.8 SPG11 SPG21 SPG7
20 charcot-marie-tooth disease, axonal, type 2e 9.8 SPG11 SPG21
21 spastic paraplegia 11, autosomal recessive 9.8 SPG11 SPG21 SPG7
22 spastic paraplegia 4, autosomal dominant 9.8 ATL1 SPG11 SPG7
23 hereditary spastic paraplegia 9.7 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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
hyperreflexia
difficulty walking
cerebellar atrophy
lower limb spasticity
ankle clonus
more
Skeletal Feet:
pes cavus


Clinical features from OMIM:

611252

Human phenotypes related to Spastic Paraplegia 32, Autosomal Recessive:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 intellectual disability, mild 32 HP:0001256
2 babinski sign 32 HP:0003487
3 pes cavus 32 HP:0001761
4 difficulty walking 32 HP:0002355
5 spastic paraplegia 32 HP:0001258
6 cerebellar atrophy 32 HP:0001272
7 lower limb muscle weakness 32 HP:0007340
8 ankle clonus 32 HP:0011448
9 spastic gait 32 HP:0002064
10 hypoplasia of the corpus callosum 32 HP:0002079
11 cerebral atrophy 32 HP:0002059

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:

41
Skin, Bone, Eye

Publications for Spastic Paraplegia 32, Autosomal Recessive

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 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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