SPG73
MCID: SPS160
MIFTS: 39

Spastic Paraplegia 73, Autosomal Dominant (SPG73)

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 73, Autosomal Dominant

MalaCards integrated aliases for Spastic Paraplegia 73, Autosomal Dominant:

Name: Spastic Paraplegia 73, Autosomal Dominant 57 75 29 6
Spg73 57 12 59 75
Autosomal Dominant Spastic Paraplegia Type 73 12 59
Hereditary Spastic Paraplegia 73 12 15
Paraplegia, Spastic, Autosomal Dominant, Type 73 40
Autosomal Dominant Spastic Paraplegia 73 12

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant spastic paraplegia type 73
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
slowly progressive
one family has been reported (last curated march 2015)
adult onset (range 19 to 48 years)


HPO:

32
spastic paraplegia 73, autosomal dominant:
Onset and clinical course adult onset slow progression
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 616282
Disease Ontology 12 DOID:0110818
ICD10 33 G11.4
Orphanet 59 ORPHA444099
ICD10 via Orphanet 34 G11.4
MeSH 44 D015419

Summaries for Spastic Paraplegia 73, Autosomal Dominant

UniProtKB/Swiss-Prot : 75 Spastic paraplegia 73, 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 73, Autosomal Dominant, also known as spg73, is related to spastic paraplegia 5a and spastic paraplegia 5a, autosomal recessive. An important gene associated with Spastic Paraplegia 73, Autosomal Dominant is CPT1C (Carnitine Palmitoyltransferase 1C). Affiliated tissues include skin, bone and eye, and related phenotypes are hyperreflexia and emg abnormality

Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the CPT1C gene on chromosome 19q13.

Description from OMIM: 616282

Related Diseases for Spastic Paraplegia 73, 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
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 73, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 5a 10.1 CYP7B1 GBA2
2 spastic paraplegia 5a, autosomal recessive 10.0 CYP7B1 PNPLA6
3 spastic paraplegia 43, autosomal recessive 10.0 CYP7B1 PNPLA6
4 sjogren-larsson syndrome 10.0 FA2H PNPLA6
5 spastic paraplegia 24, autosomal recessive 9.9 CYP7B1 SPG7
6 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 9.9 FA2H PNPLA6
7 spastic paraplegia 15, autosomal recessive 9.9 FA2H SPG7
8 autosomal recessive cerebellar ataxia 9.9 GBA2 SPG7 UBA5
9 spastic ataxia 9.9 KIF1C SPG7
10 spastic paraparesis 9.8 FA2H SPG7
11 spinocerebellar ataxia 28 9.8 GRM1 SPG7
12 spasticity 9.8 CAPN1 SPG7
13 aceruloplasminemia 9.7 ATP13A2 FA2H GBA2 GRM1
14 paraplegia 9.6 CYP7B1 FA2H PNPLA6 SPG7
15 hereditary spastic paraplegia 9.1 ATP13A2 CAPN1 CYP7B1 FA2H GBA2 KIF1C
16 spinocerebellar ataxia, autosomal recessive 21 8.3 ATP13A2 CAPN1 CPT1C CYP7B1 FA2H FAT2
17 spastic paraplegia 76, autosomal recessive 8.3 ATP13A2 CAPN1 CPT1C CYP7B1 FA2H FAT2

Graphical network of the top 20 diseases related to Spastic Paraplegia 73, Autosomal Dominant:



Diseases related to Spastic Paraplegia 73, Autosomal Dominant

Symptoms & Phenotypes for Spastic Paraplegia 73, Autosomal Dominant

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
hyperreflexia
difficulty walking
spastic paraplegia
extensor plantar responses
loss of ambulation (in some patients)
more
Genitourinary Bladder:
urinary dysfunction, mild

Skeletal Feet:
muscle atrophy, mild
foot deformities (in some patients) muscle : muscle weakness, proximal, mild


Clinical features from OMIM:

616282

Human phenotypes related to Spastic Paraplegia 73, Autosomal Dominant:

59 32 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperreflexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001347
2 emg abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0003457
3 babinski sign 59 32 hallmark (90%) Very frequent (99-80%) HP:0003487
4 difficulty walking 59 32 frequent (33%) Frequent (79-30%) HP:0002355
5 impaired vibration sensation in the lower limbs 59 32 frequent (33%) Frequent (79-30%) HP:0002166
6 degeneration of the lateral corticospinal tracts 59 32 hallmark (90%) Very frequent (99-80%) HP:0002314
7 progressive spastic paraplegia 59 32 hallmark (90%) Very frequent (99-80%) HP:0007020
8 urinary urgency 59 32 frequent (33%) Frequent (79-30%) HP:0000012
9 spastic gait 59 32 hallmark (90%) Very frequent (99-80%) HP:0002064
10 progressive pes cavus 59 32 occasional (7.5%) Occasional (29-5%) HP:0008075
11 abnormal lower-limb motor evoked potentials 59 32 frequent (33%) Frequent (79-30%) HP:0012898
12 distal lower limb muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0009053
13 urinary incontinence 59 32 frequent (33%) Frequent (79-30%) HP:0000020
14 progressive spastic paraparesis 59 32 frequent (33%) Frequent (79-30%) HP:0007199
15 distal lower limb amyotrophy 59 32 frequent (33%) Frequent (79-30%) HP:0008944
16 seizures 59 Excluded (0%)
17 skeletal muscle atrophy 32 HP:0003202
18 abnormality of the foot 32 occasional (7.5%) HP:0001760
19 dementia 59 Excluded (0%)
20 proximal muscle weakness 32 HP:0003701
21 spastic paraplegia 32 HP:0001258
22 lower limb spasticity 59 Very frequent (99-80%)
23 abnormality of the cerebrospinal fluid 59 Excluded (0%)

MGI Mouse Phenotypes related to Spastic Paraplegia 73, Autosomal Dominant:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.28 CAPN1 CPT1C CYP7B1 FA2H GBA2 GRM1

Drugs & Therapeutics for Spastic Paraplegia 73, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 73, Autosomal Dominant

Genetic Tests for Spastic Paraplegia 73, Autosomal Dominant

Genetic tests related to Spastic Paraplegia 73, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Spastic Paraplegia 73, Autosomal Dominant 29 CPT1C

Anatomical Context for Spastic Paraplegia 73, Autosomal Dominant

MalaCards organs/tissues related to Spastic Paraplegia 73, Autosomal Dominant:

41
Skin, Bone, Eye, Skeletal Muscle, Brain

Publications for Spastic Paraplegia 73, Autosomal Dominant

Variations for Spastic Paraplegia 73, Autosomal Dominant

UniProtKB/Swiss-Prot genetic disease variations for Spastic Paraplegia 73, Autosomal Dominant:

75
# Symbol AA change Variation ID SNP ID
1 CPT1C p.Arg37Cys VAR_073433 rs786204767

ClinVar genetic disease variations for Spastic Paraplegia 73, Autosomal Dominant:

6 (show all 36)
# Gene Variation Type Significance SNP ID Assembly Location
1 CPT1C NM_001199752.2(CPT1C): c.109C> T (p.Arg37Cys) single nucleotide variant Pathogenic rs786204767 GRCh38 Chromosome 19, 49692361: 49692361
2 CPT1C NM_001199752.2(CPT1C): c.109C> T (p.Arg37Cys) single nucleotide variant Pathogenic rs786204767 GRCh37 Chromosome 19, 50195618: 50195618
3 CPT1C NM_001136052.2(CPT1C): c.453+4T> C single nucleotide variant Likely benign rs372026933 GRCh38 Chromosome 19, 49700859: 49700859
4 CPT1C NM_001136052.2(CPT1C): c.453+4T> C single nucleotide variant Likely benign rs372026933 GRCh37 Chromosome 19, 50204116: 50204116
5 CPT1C NM_001136052.2(CPT1C): c.1461C> T (p.Asp487=) single nucleotide variant Benign rs61747405 GRCh38 Chromosome 19, 49708767: 49708767
6 CPT1C NM_001136052.2(CPT1C): c.1461C> T (p.Asp487=) single nucleotide variant Benign rs61747405 GRCh37 Chromosome 19, 50212024: 50212024
7 CPT1C NM_001136052.2(CPT1C): c.1882G> A (p.Ala628Thr) single nucleotide variant Likely benign rs143478074 GRCh38 Chromosome 19, 49711857: 49711857
8 CPT1C NM_001136052.2(CPT1C): c.1882G> A (p.Ala628Thr) single nucleotide variant Likely benign rs143478074 GRCh37 Chromosome 19, 50215114: 50215114
9 CPT1C NM_001136052.2(CPT1C): c.146A> T (p.Asp49Val) single nucleotide variant Uncertain significance rs762990997 GRCh38 Chromosome 19, 49697330: 49697330
10 CPT1C NM_001136052.2(CPT1C): c.146A> T (p.Asp49Val) single nucleotide variant Uncertain significance rs762990997 GRCh37 Chromosome 19, 50200587: 50200587
11 CPT1C NM_001136052.2(CPT1C): c.1351G> A (p.Gly451Arg) single nucleotide variant Uncertain significance rs577177807 GRCh38 Chromosome 19, 49707558: 49707558
12 CPT1C NM_001136052.2(CPT1C): c.1351G> A (p.Gly451Arg) single nucleotide variant Uncertain significance rs577177807 GRCh37 Chromosome 19, 50210815: 50210815
13 CPT1C NM_001136052.2(CPT1C): c.1368C> T (p.Ser456=) single nucleotide variant Benign rs144722270 GRCh38 Chromosome 19, 49707575: 49707575
14 CPT1C NM_001136052.2(CPT1C): c.1368C> T (p.Ser456=) single nucleotide variant Benign rs144722270 GRCh37 Chromosome 19, 50210832: 50210832
15 CPT1C NM_001136052.2(CPT1C): c.321C> T (p.Ala107=) single nucleotide variant Likely benign rs145821626 GRCh38 Chromosome 19, 49700723: 49700723
16 CPT1C NM_001136052.2(CPT1C): c.321C> T (p.Ala107=) single nucleotide variant Likely benign rs145821626 GRCh37 Chromosome 19, 50203980: 50203980
17 CPT1C NM_001136052.2(CPT1C): c.1785G> A (p.Thr595=) single nucleotide variant Likely benign rs371409075 GRCh38 Chromosome 19, 49710809: 49710809
18 CPT1C NM_001136052.2(CPT1C): c.1785G> A (p.Thr595=) single nucleotide variant Likely benign rs371409075 GRCh37 Chromosome 19, 50214066: 50214066
19 CPT1C NM_001136052.2(CPT1C): c.1698+7T> A single nucleotide variant Benign rs201870376 GRCh38 Chromosome 19, 49710491: 49710491
20 CPT1C NM_001136052.2(CPT1C): c.1698+7T> A single nucleotide variant Benign rs201870376 GRCh37 Chromosome 19, 50213748: 50213748
21 CPT1C NM_001136052.2(CPT1C): c.2059A> G (p.Asn687Asp) single nucleotide variant Uncertain significance rs143091111 GRCh38 Chromosome 19, 49712808: 49712808
22 CPT1C NM_001136052.2(CPT1C): c.2059A> G (p.Asn687Asp) single nucleotide variant Uncertain significance rs143091111 GRCh37 Chromosome 19, 50216065: 50216065
23 CPT1C NM_001136052.2(CPT1C): c.2359A> G (p.Met787Val) single nucleotide variant Likely benign rs113511313 GRCh37 Chromosome 19, 50216842: 50216842
24 CPT1C NM_001136052.2(CPT1C): c.2359A> G (p.Met787Val) single nucleotide variant Likely benign rs113511313 GRCh38 Chromosome 19, 49713585: 49713585
25 CPT1C NM_001136052.2(CPT1C): c.291A> C (p.Gln97His) single nucleotide variant Likely benign rs150291550 GRCh37 Chromosome 19, 50203950: 50203950
26 CPT1C NM_001136052.2(CPT1C): c.291A> C (p.Gln97His) single nucleotide variant Likely benign rs150291550 GRCh38 Chromosome 19, 49700693: 49700693
27 CPT1C NM_001136052.2(CPT1C): c.1508G> A (p.Arg503Gln) single nucleotide variant Uncertain significance rs150853576 GRCh38 Chromosome 19, 49708814: 49708814
28 CPT1C NM_001136052.2(CPT1C): c.1508G> A (p.Arg503Gln) single nucleotide variant Uncertain significance rs150853576 GRCh37 Chromosome 19, 50212071: 50212071
29 CPT1C NM_001136052.2(CPT1C): c.1768A> G (p.Thr590Ala) single nucleotide variant Uncertain significance rs774134053 GRCh37 Chromosome 19, 50214049: 50214049
30 CPT1C NM_001136052.2(CPT1C): c.1768A> G (p.Thr590Ala) single nucleotide variant Uncertain significance rs774134053 GRCh38 Chromosome 19, 49710792: 49710792
31 CPT1C NM_001136052.2(CPT1C): c.1491A> G (p.Thr497=) single nucleotide variant Benign rs181225621 GRCh38 Chromosome 19, 49708797: 49708797
32 CPT1C NM_001136052.2(CPT1C): c.1491A> G (p.Thr497=) single nucleotide variant Benign rs181225621 GRCh37 Chromosome 19, 50212054: 50212054
33 CPT1C NM_001136052.2(CPT1C): c.2026C> G (p.Pro676Ala) single nucleotide variant Uncertain significance rs200190780 GRCh38 Chromosome 19, 49712775: 49712775
34 CPT1C NM_001136052.2(CPT1C): c.2026C> G (p.Pro676Ala) single nucleotide variant Uncertain significance rs200190780 GRCh37 Chromosome 19, 50216032: 50216032
35 CPT1C NM_001136052.2(CPT1C): c.589G> A (p.Glu197Lys) single nucleotide variant Uncertain significance rs749791796 GRCh38 Chromosome 19, 49701530: 49701530
36 CPT1C NM_001136052.2(CPT1C): c.589G> A (p.Glu197Lys) single nucleotide variant Uncertain significance rs749791796 GRCh37 Chromosome 19, 50204787: 50204787

Expression for Spastic Paraplegia 73, Autosomal Dominant

Search GEO for disease gene expression data for Spastic Paraplegia 73, Autosomal Dominant.

Pathways for Spastic Paraplegia 73, Autosomal Dominant

GO Terms for Spastic Paraplegia 73, Autosomal Dominant

Cellular components related to Spastic Paraplegia 73, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.9 ATP13A2 CAPN1 CPT1C CYP7B1 FA2H FAT2
2 endoplasmic reticulum membrane GO:0005789 9.43 CPT1C CYP7B1 FA2H GBA2 PLD3 PNPLA6
3 axon cytoplasm GO:1904115 9.26 KIF1C SPG7
4 endoplasmic reticulum GO:0005783 9.17 CPT1C CYP7B1 FA2H GBA2 KIF1C PLD3

Biological processes related to Spastic Paraplegia 73, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.1 CPT1C CYP7B1 FA2H GBA2 PLD3 PNPLA6

Molecular functions related to Spastic Paraplegia 73, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.1 ATP13A2 CAPN1 GBA2 PLD3 PNPLA6 SPG7

Sources for Spastic Paraplegia 73, Autosomal Dominant

3 CDC
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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
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34 ICD10 via Orphanet
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45 MESH via Orphanet
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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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