MCID: SPS099
MIFTS: 34

Spastic Paraplegia 42, Autosomal Dominant

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Eye diseases, Gastrointestinal diseases, Bone diseases, Mental diseases, Metabolic diseases

Aliases & Classifications for Spastic Paraplegia 42, Autosomal Dominant

MalaCards integrated aliases for Spastic Paraplegia 42, Autosomal Dominant:

Name: Spastic Paraplegia 42, Autosomal Dominant 57 75 29 13 6 73
Spg42 57 12 59 75
Autosomal Dominant Spastic Paraplegia Type 42 12 59
Hereditary Spastic Paraplegia 42 12 15
Paraplegia, Spastic, Type 42, Autosomal Dominant 40
Autosomal Dominant Spastic Paraplegia 42 12

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
autosomal dominant

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


HPO:

32
spastic paraplegia 42, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 612539
Disease Ontology 12 DOID:0110794
ICD10 33 G11.4
Orphanet 59 ORPHA171863
ICD10 via Orphanet 34 G11.4
UMLS via Orphanet 74 C2675528
MedGen 42 C2675528
MeSH 44 D015419
UMLS 73 C2675528

Summaries for Spastic Paraplegia 42, Autosomal Dominant

UniProtKB/Swiss-Prot : 75 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 paraplegia and hereditary spastic paraplegia. An important gene associated with Spastic Paraplegia 42, Autosomal Dominant is SLC33A1 (Solute Carrier Family 33 Member 1). Affiliated tissues include skeletal muscle and spinal cord, and related phenotypes are spastic gait 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.

Description from OMIM: 612539

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

(show all 22)
# Related Disease Score Top Affiliating Genes
1 paraplegia 26.2 AP5Z1 ERLIN2 NIPA1 REEP1 SLC33A1 WASHC5
2 hereditary spastic paraplegia 25.8 AP5Z1 ERLIN2 NIPA1 REEP1 SLC33A1 WASHC5
3 spasticity 10.1
4 spastic paraplegia 10 10.0
5 spastic paraplegia 33, autosomal dominant 10.0 AP5Z1 REEP1
6 spastic paraplegia 31, autosomal dominant 9.9 AP5Z1 REEP1
7 spastic paraplegia 44, autosomal recessive 9.9 AP5Z1 ERLIN2
8 spastic paraplegia 48, autosomal recessive 9.8 AP5Z1 ERLIN2
9 spastic paraplegia 10, autosomal dominant 9.8 AP5Z1 REEP1
10 spastic paraplegia 35, autosomal recessive 9.7 AP5Z1 ERLIN2
11 masa syndrome 9.7 AP5Z1 REEP1
12 spastic paraplegia 3, autosomal dominant 9.3 NIPA1 REEP1
13 spastic paraplegia 2, x-linked 9.3 AP5Z1 ERLIN2 REEP1
14 spastic paraplegia 12, autosomal dominant 9.3 AP5Z1 ERLIN2 REEP1
15 spastic paraplegia 13, autosomal dominant 9.0 AP5Z1 ERLIN2 WASHC5
16 spastic paraplegia 4, autosomal dominant 8.8 ERLIN2 NIPA1 REEP1 SLC33A1
17 spastic paraplegia 47, autosomal recessive 8.4 AP5Z1 ERLIN2 REEP1 WASHC5
18 spastic paraplegia 39, autosomal recessive 8.4 AP5Z1 ERLIN2 REEP1 WASHC5
19 spastic paraplegia 30, autosomal recessive 8.4 AP5Z1 ERLIN2 REEP1 WASHC5
20 spastic paraplegia 6, autosomal dominant 8.3 AP5Z1 ERLIN2 NIPA1 REEP1 SLC33A1
21 spastic paraplegia 18, autosomal recessive 7.9 AP5Z1 ERLIN2 NIPA1 REEP1 WASHC5
22 spastic paraplegia 8, autosomal dominant 7.8 AP5Z1 ERLIN2 NIPA1 REEP1 WASHC5

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Spastic Paraplegia 42, Autosomal Dominant:

59 32 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 spastic gait 59 32 hallmark (90%) Very frequent (99-80%) HP:0002064
2 degeneration of the lateral corticospinal tracts 59 32 hallmark (90%) Very frequent (99-80%) HP:0002314
3 babinski sign 59 32 hallmark (90%) Very frequent (99-80%) HP:0003487
4 lower limb hypertonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0006895
5 progressive spastic paraplegia 59 32 hallmark (90%) Very frequent (99-80%) HP:0007020
6 impaired vibration sensation in the lower limbs 59 32 frequent (33%) Frequent (79-30%) HP:0002166
7 clonus 59 32 frequent (33%) Frequent (79-30%) HP:0002169
8 lower limb amyotrophy 59 32 frequent (33%) Frequent (79-30%) HP:0007210
9 lower limb muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0007340
10 spinal cord lesion 59 32 frequent (33%) Frequent (79-30%) HP:0100561
11 progressive pes cavus 59 32 occasional (7.5%) Occasional (29-5%) HP:0008075
12 hyperreflexia 59 Very frequent (99-80%)
13 lower limb spasticity 59 Very frequent (99-80%)
14 seizures 59 Excluded (0%)
15 abnormality of the cerebrospinal fluid 59 Excluded (0%)
16 emg abnormality 59 Excluded (0%)
17 abnormal lower-limb motor evoked potentials 59 Excluded (0%)
18 spastic paraplegia 32 HP:0001258
19 muscle weakness 32 HP:0001324
20 pes cavus 32 HP:0001761
21 lower limb hyperreflexia 32 HP:0002395
22 skeletal muscle atrophy 32 HP:0003202

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:

41
Skeletal Muscle, Spinal Cord

Publications for Spastic Paraplegia 42, Autosomal Dominant

Variations for Spastic Paraplegia 42, Autosomal Dominant

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

75
# Symbol AA change Variation ID SNP ID
1 SLC33A1 p.Ser113Arg VAR_054850 rs121909484

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC33A1 NM_004733.3(SLC33A1): c.339T> G (p.Ser113Arg) single nucleotide variant Pathogenic rs121909484 GRCh37 Chromosome 3, 155571448: 155571448
2 SLC33A1 NM_004733.3(SLC33A1): c.339T> G (p.Ser113Arg) single nucleotide variant Pathogenic rs121909484 GRCh38 Chromosome 3, 155853659: 155853659

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

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 membrane GO:0005789 9.13 ERLIN2 REEP1 SLC33A1
2 endoplasmic reticulum GO:0005783 8.92 ERLIN2 REEP1 SLC33A1 WASHC5

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

# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.13 ERLIN2 NIPA1 SLC33A1
2 endosomal transport GO:0016197 8.62 AP5Z1 WASHC5

Sources for Spastic Paraplegia 42, Autosomal Dominant

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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