SPG42
MCID: SPS099
MIFTS: 40

Spastic Paraplegia 42, Autosomal Dominant (SPG42)

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 42, Autosomal Dominant

MalaCards integrated aliases for Spastic Paraplegia 42, Autosomal Dominant:

Name: Spastic Paraplegia 42, Autosomal Dominant 56 73 29 13 6 71
Spg42 56 12 58 73
Autosomal Dominant Spastic Paraplegia Type 42 12 58
Hereditary Spastic Paraplegia 42 12 15
Paraplegia, Spastic, Type 42, Autosomal Dominant 39
Autosomal Dominant Spastic Paraplegia 42 12

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant spastic paraplegia type 42
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
variable age at onset (range 4 to 40 years, mostly in first or second decade)


HPO:

31
spastic paraplegia 42, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110794
OMIM 56 612539
OMIM Phenotypic Series 56 PS303350
MeSH 43 D015419
ICD10 32 G11.4
ICD10 via Orphanet 33 G11.4
UMLS via Orphanet 72 C2675528
Orphanet 58 ORPHA171863
MedGen 41 C2675528
UMLS 71 C2675528

Summaries for Spastic Paraplegia 42, Autosomal Dominant

UniProtKB/Swiss-Prot : 73 Spastic paraplegia 42, autosomal dominant: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body.

MalaCards based summary : Spastic Paraplegia 42, Autosomal Dominant, also known as spg42, is related to spasticity and spastic paraplegia 4, autosomal dominant. An important gene associated with Spastic Paraplegia 42, Autosomal Dominant is SLC33A1 (Solute Carrier Family 33 Member 1), and among its related pathways/superpathways is Endocytosis. Affiliated tissues include spinal cord, skeletal muscle and eye, and related phenotypes are babinski sign and degeneration of the lateral corticospinal tracts

Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the SLC33A1 gene on chromosome 3q25.31.

More information from OMIM: 612539 PS303350

Related Diseases for Spastic Paraplegia 42, Autosomal Dominant

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 42, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 72)
# Related Disease Score Top Affiliating Genes
1 spasticity 30.2 WASHC5 SPAST REEP1 KIF1A
2 spastic paraplegia 4, autosomal dominant 26.0 ZFYVE27 ZFYVE26 WASHC5 SPG11 SPAST SPART
3 paraplegia 24.9 ZFYVE27 ZFYVE26 WASHC5 VPS37A SPG11 SPAST
4 hereditary spastic paraplegia 24.8 ZFYVE27 ZFYVE26 WASHC5 VPS37A SPG11 SPAST
5 complex hereditary spastic paraplegia 10.3 SPG11 NIPA1
6 spastic paraplegia 28, autosomal recessive 10.3 SPG11 REEP1
7 spinal cord neuroblastoma 10.3 ZFYVE27 REEP1
8 spastic paraplegia 77, autosomal recessive 10.3 ZFYVE26 SPG11
9 neuropathy, hereditary sensory, type id 10.2 KIF5A ATL1
10 spinal cord primitive neuroectodermal neoplasm 10.2 ZFYVE27 REEP1
11 spastic paraplegia 34, x-linked 10.2 ZFYVE26 WASHC5 SLC33A1
12 spinocerebellar ataxia, autosomal recessive 20 10.2 ZFYVE26 SPG11
13 spastic paraplegia 29, autosomal dominant 10.2 ZFYVE26 WASHC5 SLC33A1
14 spastic paraplegia 37, autosomal dominant 10.2 ZFYVE26 WASHC5 SLC33A1
15 spastic paraplegia 25, autosomal recessive 10.2 ZFYVE26 WASHC5 SLC33A1
16 spastic paraplegia 19, autosomal dominant 10.2 ZFYVE26 WASHC5 SLC33A1
17 spastic paraplegia 49, autosomal recessive 10.2 ZFYVE26 SPG11
18 spastic paraplegia 56, autosomal recessive 10.2 SPG11 AP5Z1
19 spastic ataxia 2 10.2 REEP1 KIF1A
20 spastic paraplegia 32, autosomal recessive 10.2 ZFYVE26 SPG11 SLC33A1
21 spastic paraplegia 54, autosomal recessive 10.2 SPG11 REEP1 AP5Z1
22 huppke-brendel syndrome 10.2
23 spastic paraplegia 3a 10.2
24 spastic paraplegia 4 10.2
25 spastic paraplegia, optic atrophy, and neuropathy 10.1 VPS37A AP5Z1
26 spastic paraplegia 11, autosomal recessive 10.0 ZFYVE26 SPG11
27 charcot-marie-tooth disease, axonal, type 2k 9.9 KIF5A KIF1A
28 spastic paraplegia 16, x-linked 9.9 ZFYVE26 WASHC5 SPG11 SPAST SLC33A1
29 spastic paraplegia 14, autosomal recessive 9.9 ZFYVE26 WASHC5 SPG11 SPAST SLC33A1
30 spastic paraparesis 9.9 VPS37A SPG11 SPAST KIF1A
31 spastic paraplegia 55, autosomal recessive 9.8 ZFYVE26 SPG11
32 pseudobulbar palsy 9.8 SPART KIF5A
33 spastic paraplegia 35, autosomal recessive 9.8 ZFYVE26 WASHC5 SPG11 REEP1 AP5Z1
34 mast syndrome 9.8 ZFYVE27 SPG11 SPART
35 amyotrophic lateral sclerosis type 5 9.8 ZFYVE26 SPG11 SPAST KIF5A AP5Z1
36 spastic paraplegia 46, autosomal recessive 9.8 ZFYVE26 SPG11 PNPLA6 AP5Z1
37 spastic paraplegia 61, autosomal recessive 9.6 SPAST RTN2 REEP1 ATL1
38 axonal neuropathy 9.6 ZFYVE26 SPG11 KIF5A KIF1A ATL1
39 hereditary spastic paraplegia 23 9.6 ZFYVE26 WASHC5 SPG11 SPART SLC33A1
40 charcot-marie-tooth disease, axonal, type 2e 9.6 ZFYVE26 SPG11 SPAST KIF5A KIF1A
41 spastic paraplegia 5a, autosomal recessive 9.6 ZFYVE26 SPG11 SPAST PNPLA6 KIF5A
42 spastic paraplegia 57, autosomal recessive 9.5 SPG11 REEP1 KIF5A KIF1A ERLIN2
43 spastic paraplegia 47, autosomal recessive 9.5 ZFYVE26 WASHC5 SPG11 REEP1 ERLIN2 AP5Z1
44 neuropathy, hereditary sensory, type iic 9.5 SPG11 RTN2 REEP1 KIF1A
45 charcot-marie-tooth disease 9.4 SPG11 SPAST REEP1 KIF5A KIF1A ATL1
46 spastic paraplegia 44, autosomal recessive 9.4 ZFYVE27 ZFYVE26 WASHC5 SLC33A1 ERLIN2 AP5Z1
47 spastic paraplegia 53, autosomal recessive 9.4 VPS37A SLC33A1 RTN2 ATL1 AP5Z1
48 spastic paraplegia 26, autosomal recessive 9.3 ZFYVE26 WASHC5 SPG11 SPAST SPART SLC33A1
49 spastic paraplegia 52, autosomal recessive 9.3 ZFYVE26 VPS37A SPG11 RTN2 AP5Z1
50 spastic paraplegia 43, autosomal recessive 9.2 ZFYVE27 ZFYVE26 VPS37A SPG11 SPAST SLC33A1

Graphical network of the top 20 diseases related to Spastic Paraplegia 42, Autosomal Dominant:



Diseases related to Spastic Paraplegia 42, Autosomal Dominant

Symptoms & Phenotypes for Spastic Paraplegia 42, Autosomal Dominant

Human phenotypes related to Spastic Paraplegia 42, Autosomal Dominant:

58 31 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 babinski sign 58 31 hallmark (90%) Very frequent (99-80%) HP:0003487
2 degeneration of the lateral corticospinal tracts 58 31 hallmark (90%) Very frequent (99-80%) HP:0002314
3 progressive spastic paraplegia 58 31 hallmark (90%) Very frequent (99-80%) HP:0007020
4 spastic gait 58 31 hallmark (90%) Very frequent (99-80%) HP:0002064
5 lower limb hypertonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0006895
6 clonus 58 31 frequent (33%) Frequent (79-30%) HP:0002169
7 lower limb muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0007340
8 impaired vibration sensation in the lower limbs 58 31 frequent (33%) Frequent (79-30%) HP:0002166
9 spinal cord lesion 58 31 frequent (33%) Frequent (79-30%) HP:0100561
10 lower limb amyotrophy 58 31 frequent (33%) Frequent (79-30%) HP:0007210
11 progressive pes cavus 58 31 occasional (7.5%) Occasional (29-5%) HP:0008075
12 seizures 58 Excluded (0%)
13 hyperreflexia 58 Very frequent (99-80%)
14 muscle weakness 31 HP:0001324
15 emg abnormality 58 Excluded (0%)
16 skeletal muscle atrophy 31 HP:0003202
17 pes cavus 31 HP:0001761
18 spastic paraplegia 31 HP:0001258
19 lower limb spasticity 58 Very frequent (99-80%)
20 abnormality of the cerebrospinal fluid 58 Excluded (0%)
21 abnormal lower-limb motor evoked potentials 58 Excluded (0%)
22 lower limb hyperreflexia 31 HP:0002395

Symptoms via clinical synopsis from OMIM:

56
Skeletal Feet:
pes cavus

Muscle Soft Tissue:
muscle atrophy, lower limbs
increased muscle tone, lower limbs
muscle weakness, lower limbs

Neurologic Central Nervous System:
spastic paraplegia
spastic gait
lower limb hyperreflexia
extensor plantar responses

Clinical features from OMIM:

612539

MGI Mouse Phenotypes related to Spastic Paraplegia 42, Autosomal Dominant:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.36 ATL1 KIF1A KIF5A PNPLA6 PRRC2C REEP1

Drugs & Therapeutics for Spastic Paraplegia 42, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 42, Autosomal Dominant

Genetic Tests for Spastic Paraplegia 42, Autosomal Dominant

Genetic tests related to Spastic Paraplegia 42, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Spastic Paraplegia 42, Autosomal Dominant 29 SLC33A1

Anatomical Context for Spastic Paraplegia 42, Autosomal Dominant

MalaCards organs/tissues related to Spastic Paraplegia 42, Autosomal Dominant:

40
Spinal Cord, Skeletal Muscle, Eye, Bone, Skin

Publications for Spastic Paraplegia 42, Autosomal Dominant

Articles related to Spastic Paraplegia 42, Autosomal Dominant:

# Title Authors PMID Year
1
A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42). 61 56 6
19061983 2008
2
Identification and functional analysis of a SLC33A1: c.339T>G (p.Ser113Arg) variant in the original SPG42 family. 61 6
25402622 2015
3
A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42). 61 56
20461110 2010
4
Hereditary Spastic Paraplegia Overview 6
20301682 2000
5
S113R mutation in SLC33A1 leads to neurodegeneration and augmented BMP signaling in a mouse model. 61
27935820 2017
6
Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms. 61
23897027 2013
7
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. 61
22554690 2012
8
Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG42) caused by SLC33A1 mutation in a Chinese kindred. 61
20306460 2010

Variations for Spastic Paraplegia 42, Autosomal Dominant

ClinVar genetic disease variations for Spastic Paraplegia 42, Autosomal Dominant:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC33A1 NM_004733.4(SLC33A1):c.339T>G (p.Ser113Arg)SNV Pathogenic 6132 rs121909484 3:155571448-155571448 3:155853659-155853659
2 SLC33A1 NM_004733.4(SLC33A1):c.1511_1521del (p.Val504fs)deletion Uncertain significance 418497 rs772861569 3:155546128-155546138 3:155828339-155828349

UniProtKB/Swiss-Prot genetic disease variations for Spastic Paraplegia 42, Autosomal Dominant:

73
# Symbol AA change Variation ID SNP ID
1 SLC33A1 p.Ser113Arg VAR_054850 rs121909484

Expression for Spastic Paraplegia 42, Autosomal Dominant

Search GEO for disease gene expression data for Spastic Paraplegia 42, Autosomal Dominant.

Pathways for Spastic Paraplegia 42, Autosomal Dominant

Pathways related to Spastic Paraplegia 42, Autosomal Dominant according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.42 ZFYVE27 WASHC5 VPS37A SPART KIF5A

GO Terms for Spastic Paraplegia 42, Autosomal Dominant

Cellular components related to Spastic Paraplegia 42, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.81 ZFYVE27 WASHC5 SPAST SLC33A1 RTN2 REEP1
2 axon GO:0030424 9.62 ZFYVE27 SPG11 KIF1A ATL1
3 midbody GO:0030496 9.54 ZFYVE26 SPAST SPART
4 axon cytoplasm GO:1904115 9.43 SPAST KIF5A KIF1A
5 endoplasmic reticulum membrane GO:0005789 9.23 ZFYVE27 SPAST SLC33A1 RTN2 REEP1 PNPLA6
6 endoplasmic reticulum tubular network GO:0071782 9.13 ZFYVE27 REEP1 ATL1

Biological processes related to Spastic Paraplegia 42, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 anterograde axonal transport GO:0008089 9.26 SPAST KIF1A
2 synaptic vesicle transport GO:0048489 9.16 SPG11 KIF5A
3 endosomal transport GO:0016197 9.13 WASHC5 VPS37A AP5Z1
4 retrograde neuronal dense core vesicle transport GO:1990049 8.62 KIF5A KIF1A

Molecular functions related to Spastic Paraplegia 42, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATP-dependent microtubule motor activity, plus-end-directed GO:0008574 8.96 KIF5A KIF1A
2 microtubule binding GO:0008017 8.92 SPAST REEP1 KIF5A KIF1A

Sources for Spastic Paraplegia 42, Autosomal Dominant

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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