MCID: SPS123
MIFTS: 33

Spastic Paraplegia 32, Autosomal Recessive

Categories: Neuronal diseases, Rare diseases, Genetic diseases, Eye diseases, Gastrointestinal diseases, Bone diseases, Mental diseases, Metabolic 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 spastic paraplegia 32 and amyotrophic lateral sclerosis type 5. An important gene associated with Spastic Paraplegia 32, Autosomal Recessive is SPG32 (Spastic Paraplegia 32 (Autosomal Recessive)), and among its related pathways/superpathways are Immune response Role of DAP12 receptors in NK cells and Staphylococcus aureus infection. Related phenotypes are intellectual disability, mild and spastic paraplegia

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
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

Diseases related to Spastic Paraplegia 32, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 31)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 32 11.3
2 amyotrophic lateral sclerosis type 5 10.4 SPG11 SPG21
3 spastic paraplegia 48, autosomal recessive 10.4 SPG11 SPG21
4 mast syndrome 10.4 SPG11 SPG21
5 spastic paraplegia 24, autosomal recessive 10.4 SPG21 SPG7
6 spastic paraplegia 35, autosomal recessive 10.4 SPG11 SPG21
7 spastic paraplegia 8, autosomal dominant 10.4 ATL1 SPG11
8 spastic paraplegia 10, autosomal dominant 10.3 ATL1 SPG11
9 masa syndrome 10.3 ATL1 SPG11
10 spastic paraplegia 49, autosomal recessive 10.2 SPG11 SPG7
11 spastic paraparesis 10.0 SPG11 SPG7
12 spastic paraplegia 3, autosomal dominant 10.0 ATL1 SPG11
13 spastic paraplegia 15, autosomal recessive 10.0 SPG11 SPG21 SPG7
14 spastic paraplegia 11, autosomal recessive 9.9 SPG11 SPG21 SPG7
15 spastic paraplegia 4, autosomal dominant 9.9 ATL1 SPG11 SPG7
16 transient neonatal neutropenia 9.6 FCGR3A FCGR3B
17 rheumatic myocarditis 9.6 FCGR3A FCGR3B
18 orbital plasma cell granuloma 9.6 FCGR3A FCGR3B
19 paraplegia 9.5 ATL1 SPG11 SPG21 SPG7
20 chronic orbital inflammation 9.5 FCGR3A FCGR3B
21 hereditary spastic paraplegia 9.5 ATL1 SPG11 SPG21 SPG7
22 poliomyelitis 9.5 FCGR3A FCGR3B
23 exanthema subitum 9.4 FCGR3A FCGR3B
24 ovarian cystic teratoma 9.4 FCGR3A FCGR3B
25 pleuropneumonia 9.3 FCGR3A FCGR3B
26 cryptococcosis 9.1 FCGR3A FCGR3B
27 chronic nk-cell lymphocytosis 9.1 B3GAT1 FCGR3A FCGR3B
28 diffuse infiltrative lymphocytosis syndrome 9.1 B3GAT1 FCGR3A FCGR3B
29 pediatric lymphoma 9.0 B3GAT1 FCGR3A FCGR3B
30 neutropenia 9.0 CSF2 FCGR3A FCGR3B
31 acquired immunodeficiency syndrome 9.0 CSF2 FCGR3A

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 spastic paraplegia 32 HP:0001258
3 cerebellar atrophy 32 HP:0001272
4 pes cavus 32 HP:0001761
5 cerebral atrophy 32 HP:0002059
6 spastic gait 32 HP:0002064
7 hypoplasia of the corpus callosum 32 HP:0002079
8 difficulty walking 32 HP:0002355
9 babinski sign 32 HP:0003487
10 lower limb muscle weakness 32 HP:0007340
11 ankle clonus 32 HP:0011448

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

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.28 CSF2 FCGR3A FCGR3B
2 10.7 FCGR3A FCGR3B

GO Terms for Spastic Paraplegia 32, Autosomal Recessive

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

# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 8.8 CSF2 FCGR3A FCGR3B

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

# Name GO ID Score Top Affiliating Genes
1 IgG binding GO:0019864 8.62 FCGR3A FCGR3B

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
Content
Loading form....