SPG73
MCID: SPS160
MIFTS: 38

Spastic Paraplegia 73, Autosomal Dominant (SPG73)

Categories: Bone diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory 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 72 29 6
Spg73 57 12 58 72
Autosomal Dominant Spastic Paraplegia Type 73 12 58
Hereditary Spastic Paraplegia 73 12 15
Paraplegia, Spastic, Autosomal Dominant, Type 73 39
Autosomal Dominant Spastic Paraplegia 73 12

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant spastic paraplegia type 73
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

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


HPO:

31
spastic paraplegia 73, autosomal dominant:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110818
OMIM® 57 616282
OMIM Phenotypic Series 57 PS303350
MeSH 44 D015419
ICD10 32 G11.4
ICD10 via Orphanet 33 G11.4
Orphanet 58 ORPHA444099

Summaries for Spastic Paraplegia 73, Autosomal Dominant

UniProtKB/Swiss-Prot : 72 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 hereditary spastic paraplegia 72 and complex hereditary spastic paraplegia. An important gene associated with Spastic Paraplegia 73, Autosomal Dominant is CPT1C (Carnitine Palmitoyltransferase 1C). Affiliated tissues include skeletal muscle, and related phenotypes are hyperreflexia and babinski sign

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

More information from OMIM: 616282 PS303350

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, 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 Dominant
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
Spastic Paraplegia 81, Autosomal Recessive Spastic Paraplegia 82, Autosomal Recessive
Spastic Paraplegia 83, Autosomal Recessive Hereditary Spastic Paraplegia 23
Hereditary Spastic Paraplegia 30 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 73, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 60)
# Related Disease Score Top Affiliating Genes
1 hereditary spastic paraplegia 72 10.2 REEP1 ATL1
2 complex hereditary spastic paraplegia 10.1 FA2H DDHD2
3 spastic paraplegia, optic atrophy, and neuropathy 10.1 PNPLA6 ATL1
4 spastic paraplegia 3, autosomal dominant 10.1 REEP1 ATL1
5 lenz-majewski hyperostotic dwarfism 10.0 DDHD2 DDHD1
6 spastic paraplegia 42, autosomal dominant 10.0 REEP1 PNPLA6 ATL1
7 spastic paraplegia 14, autosomal recessive 10.0 SPG21 ATL1
8 spastic paraplegia 25, autosomal recessive 10.0 SPG21 REEP1
9 spastic paraplegia 37, autosomal dominant 10.0 SPG21 REEP1
10 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome 10.0 DDHD2 DDHD1
11 spastic paraplegia 34, x-linked 10.0 SPG21 REEP1
12 neuronopathy, distal hereditary motor, type va 9.9 REEP1 ATL1
13 spastic paraplegia 55, autosomal recessive 9.9 SPG21 DDHD1
14 sengers syndrome 9.9 DDHD2 DDHD1
15 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 9.9 PNPLA6 DDHD2 DDHD1
16 spastic paraplegia 47, autosomal recessive 9.9 SPG21 REEP1
17 spastic ataxia 2 9.9 REEP1 KIF1C
18 spastic paraplegia 61, autosomal recessive 9.9 SPG21 REEP1 ATL1
19 spastic paraplegia 33, autosomal dominant 9.9 SPG21 REEP1 ATL1
20 spastic paraplegia 20, autosomal recessive 9.9 SPG21 PNPLA6 ATL1
21 neuropathy, hereditary sensory, type iic 9.9 SPG21 REEP1 FA2H
22 spastic paraplegia 12, autosomal dominant 9.9 SPG21 REEP1 ATL1
23 spastic paraplegia 6, autosomal dominant 9.9 SPG21 REEP1 ATL1
24 spastic paraplegia 31, autosomal dominant 9.9 SPG21 REEP1 ATL1
25 charcot-marie-tooth disease, axonal, type 2t 9.9 SPG21 GBA2
26 spastic paraplegia 8, autosomal dominant 9.9 SPG21 REEP1 ATL1
27 spastic paraplegia 10, autosomal dominant 9.9 SPG21 REEP1 ATL1
28 spastic paraplegia 43, autosomal recessive 9.8 PNPLA6 GBA2 FA2H ATL1
29 spastic paraplegia 49, autosomal recessive 9.8 SPG21 DDHD2 DDHD1
30 spastic paraplegia 24, autosomal recessive 9.8 SPG21 KIF1C
31 spastic paraplegia 27, autosomal recessive 9.8 SPG21 KIF1C
32 hereditary spastic paraplegia 23 9.8 SPG21 KIF1C
33 spastic paraplegia 36, autosomal dominant 9.7 SPG21 KIF1C
34 spastic paraplegia 4, autosomal dominant 9.7 SPG21 REEP1 FA2H ATL1
35 aceruloplasminemia 9.7 PNPLA6 KIF1C FA2H
36 spastic paraplegia 13, autosomal dominant 9.7 SPG21 REEP1 DDHD1 ATL1
37 spastic paraplegia 17, autosomal dominant 9.7 SPG21 REEP1 DDHD1 ATL1
38 spastic paraplegia 18, autosomal recessive 9.7 SPG21 REEP1 FA2H DDHD1
39 masa syndrome 9.6 SPG21 REEP1 DDHD2 ATL1
40 spastic paraplegia 26, autosomal recessive 9.6 SPG21 REEP1 GBA2 FA2H
41 spinocerebellar ataxia, autosomal recessive 21 9.6 UBA5 KIF1C GBA2
42 spastic paraplegia 76, autosomal recessive 9.6 UBA5 KIF1C GBA2
43 spastic paraplegia 28, autosomal recessive 9.6 REEP1 PNPLA6 FA2H DDHD2 DDHD1
44 spastic paraplegia 45, autosomal recessive 9.5 SPG21 KIF1C DDHD2
45 spastic paraplegia 48, autosomal recessive 9.5 SPG21 REEP1 FA2H DDHD2 ATL1
46 motor neuron disease 9.5 PNPLA6 KIF1C DDHD2
47 spastic paraplegia 2, x-linked 9.5 SPG21 REEP1 FA2H DDHD2 ATL1
48 spastic paraparesis 9.5 KIF1C GBA2 FA2H DDHD1
49 spastic paraplegia 35, autosomal recessive 9.5 SPG21 REEP1 PNPLA6 FA2H DDHD2
50 spastic ataxia 9.4 PNPLA6 KIF1C GBA2 DDHD2

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

Human phenotypes related to Spastic Paraplegia 73, Autosomal Dominant:

58 31 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperreflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001347
2 babinski sign 58 31 hallmark (90%) Very frequent (99-80%) HP:0003487
3 spastic gait 58 31 hallmark (90%) Very frequent (99-80%) HP:0002064
4 progressive spastic paraplegia 58 31 hallmark (90%) Very frequent (99-80%) HP:0007020
5 degeneration of the lateral corticospinal tracts 58 31 hallmark (90%) Very frequent (99-80%) HP:0002314
6 emg abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0003457
7 distal lower limb muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0009053
8 difficulty walking 58 31 frequent (33%) Frequent (79-30%) HP:0002355
9 urinary incontinence 58 31 frequent (33%) Frequent (79-30%) HP:0000020
10 urinary urgency 58 31 frequent (33%) Frequent (79-30%) HP:0000012
11 distal lower limb amyotrophy 58 31 frequent (33%) Frequent (79-30%) HP:0008944
12 progressive spastic paraparesis 58 31 frequent (33%) Frequent (79-30%) HP:0007199
13 impaired vibration sensation in the lower limbs 58 31 frequent (33%) Frequent (79-30%) HP:0002166
14 abnormal lower-limb motor evoked potentials 58 31 frequent (33%) Frequent (79-30%) HP:0012898
15 progressive pes cavus 58 31 occasional (7.5%) Occasional (29-5%) HP:0008075
16 abnormal foot morphology 31 occasional (7.5%) HP:0001760
17 seizures 58 Excluded (0%)
18 skeletal muscle atrophy 31 HP:0003202
19 spastic paraplegia 31 HP:0001258
20 dementia 58 Excluded (0%)
21 proximal muscle weakness 31 HP:0003701
22 lower limb spasticity 58 Very frequent (99-80%)
23 abnormality of the cerebrospinal fluid 58 Excluded (0%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
hyperreflexia
spastic paraplegia
difficulty walking
extensor plantar responses
loss of ambulation (in some patients)
more
Muscle Soft Tissue:
muscle weakness, proximal, mild
muscle atrophy, mild

Skeletal Feet:
foot deformities (in some patients)

Genitourinary Bladder:
urinary dysfunction, mild

Clinical features from OMIM®:

616282 (Updated 05-Apr-2021)

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:

40
Skeletal Muscle

Publications for Spastic Paraplegia 73, Autosomal Dominant

Articles related to Spastic Paraplegia 73, Autosomal Dominant:

# Title Authors PMID Year
1
Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia. 57 6
25751282 2015
2
Carnitine palmitoyltransferase 1C deficiency causes motor impairment and hypoactivity. 57
23973755 2013
3
A novel CPT1C variant causes pure hereditary spastic paraplegia with benign clinical course. 61
30911584 2019
4
Hereditary ataxias and paraparesias: clinical and genetic update. 61
29847346 2018

Variations for Spastic Paraplegia 73, Autosomal Dominant

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

6 (show all 49)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CPT1C NM_001199753.2(CPT1C):c.109C>T (p.Arg37Cys) SNV Pathogenic 189198 rs786204767 GRCh37: 19:50195618-50195618
GRCh38: 19:49692361-49692361
2 CPT1C NM_001199753.2(CPT1C):c.2T>G (p.Met1Arg) SNV Likely pathogenic 978230 rs751933977 GRCh37: 19:50195511-50195511
GRCh38: 19:49692254-49692254
3 CPT1C NM_001199753.2(CPT1C):c.589G>A (p.Glu197Lys) SNV Uncertain significance 569509 rs749791796 GRCh37: 19:50204787-50204787
GRCh38: 19:49701530-49701530
4 CPT1C NM_001199753.2(CPT1C):c.2092A>G (p.Asn698Asp) SNV Uncertain significance 476175 rs143091111 GRCh37: 19:50216065-50216065
GRCh38: 19:49712808-49712808
5 CPT1C NM_001199753.2(CPT1C):c.1894G>A (p.Val632Met) SNV Uncertain significance 1001747 GRCh37: 19:50215093-50215093
GRCh38: 19:49711836-49711836
6 CPT1C NM_001199753.2(CPT1C):c.1954C>T (p.Arg652Cys) SNV Uncertain significance 1011768 GRCh37: 19:50215153-50215153
GRCh38: 19:49711896-49711896
7 CPT1C NM_001199753.2(CPT1C):c.1264G>T (p.Ala422Ser) SNV Uncertain significance 851230 GRCh37: 19:50209591-50209591
GRCh38: 19:49706334-49706334
8 CPT1C NM_001199753.2(CPT1C):c.1112C>T (p.Pro371Leu) SNV Uncertain significance 862795 GRCh37: 19:50209313-50209313
GRCh38: 19:49706056-49706056
9 CPT1C NM_001199753.2(CPT1C):c.740C>T (p.Pro247Leu) SNV Uncertain significance 959137 GRCh37: 19:50208013-50208013
GRCh38: 19:49704756-49704756
10 CPT1C NM_001199753.2(CPT1C):c.1027C>T (p.Arg343Cys) SNV Uncertain significance 1021430 GRCh37: 19:50209228-50209228
GRCh38: 19:49705971-49705971
11 CPT1C NM_001199753.2(CPT1C):c.1708G>A (p.Ala570Thr) SNV Uncertain significance 968238 GRCh37: 19:50213718-50213718
GRCh38: 19:49710461-49710461
12 CPT1C NM_001199753.2(CPT1C):c.200G>A (p.Ser67Asn) SNV Uncertain significance 1035925 GRCh37: 19:50200641-50200641
GRCh38: 19:49697384-49697384
13 CPT1C NM_001199753.2(CPT1C):c.1541G>A (p.Arg514Gln) SNV Uncertain significance 542767 rs150853576 GRCh37: 19:50212071-50212071
GRCh38: 19:49708814-49708814
14 CPT1C NM_001199753.2(CPT1C):c.1295C>T (p.Ser432Leu) SNV Uncertain significance 949758 GRCh37: 19:50209622-50209622
GRCh38: 19:49706365-49706365
15 CPT1C NM_001199753.2(CPT1C):c.1801A>G (p.Thr601Ala) SNV Uncertain significance 542766 rs774134053 GRCh37: 19:50214049-50214049
GRCh38: 19:49710792-49710792
16 CPT1C NM_001199753.2(CPT1C):c.2059C>G (p.Pro687Ala) SNV Uncertain significance 542768 rs200190780 GRCh37: 19:50216032-50216032
GRCh38: 19:49712775-49712775
17 CPT1C NM_001199752.3(CPT1C):c.879G>T (p.Pro293=) SNV Uncertain significance 852559 GRCh37: 19:50208371-50208371
GRCh38: 19:49705114-49705114
18 CPT1C NM_001199752.3(CPT1C):c.282-3C>G SNV Uncertain significance 862277 GRCh37: 19:50203938-50203938
GRCh38: 19:49700681-49700681
19 CPT1C NM_001199752.3(CPT1C):c.2311del (p.Arg771fs) Deletion Uncertain significance 863125 GRCh37: 19:50216760-50216760
GRCh38: 19:49713503-49713503
20 CPT1C NM_001199753.2(CPT1C):c.1384G>A (p.Gly462Arg) SNV Uncertain significance 476168 rs577177807 GRCh37: 19:50210815-50210815
GRCh38: 19:49707558-49707558
21 CPT1C NM_001199753.2(CPT1C):c.146A>T (p.Asp49Val) SNV Uncertain significance 476171 rs762990997 GRCh37: 19:50200587-50200587
GRCh38: 19:49697330-49697330
22 CPT1C NM_001199753.2(CPT1C):c.196T>G (p.Phe66Val) SNV Uncertain significance 640926 rs201119466 GRCh37: 19:50200637-50200637
GRCh38: 19:49697380-49697380
23 CPT1C NM_001199753.2(CPT1C):c.372G>A (p.Val124=) SNV Uncertain significance 645918 rs1600070785 GRCh37: 19:50204031-50204031
GRCh38: 19:49700774-49700774
24 CPT1C NM_001199753.2(CPT1C):c.1142C>T (p.Ala381Val) SNV Uncertain significance 657869 rs1436873820 GRCh37: 19:50209343-50209343
GRCh38: 19:49706086-49706086
25 CPT1C NM_001199753.2(CPT1C):c.55G>A (p.Ala19Thr) SNV Uncertain significance 662312 rs1317849272 GRCh37: 19:50195564-50195564
GRCh38: 19:49692307-49692307
26 CPT1C NM_001136052.2(CPT1C):c.1263G>A (p.Ser421=) SNV Likely benign 702226 rs371844232 GRCh37: 19:50209623-50209623
GRCh38: 19:49706366-49706366
27 CPT1C NM_001136052.2(CPT1C):c.942C>T (p.Arg314=) SNV Likely benign 703078 rs148461300 GRCh37: 19:50209176-50209176
GRCh38: 19:49705919-49705919
28 CPT1C NM_001136052.2(CPT1C):c.721T>C (p.Tyr241His) SNV Likely benign 704286 rs144205321 GRCh37: 19:50207994-50207994
GRCh38: 19:49704737-49704737
29 CPT1C NM_001136052.2(CPT1C):c.453+4T>C SNV Likely benign 476177 rs372026933 GRCh37: 19:50204116-50204116
GRCh38: 19:49700859-49700859
30 CPT1C NM_001199753.2(CPT1C):c.291A>C (p.Gln97His) SNV Likely benign 542769 rs150291550 GRCh37: 19:50203950-50203950
GRCh38: 19:49700693-49700693
31 CPT1C NM_001199753.2(CPT1C):c.899G>A (p.Arg300His) SNV Likely benign 915373 GRCh37: 19:50208490-50208490
GRCh38: 19:49705233-49705233
32 CPT1C NM_001136052.2(CPT1C):c.2044C>A (p.Leu682Met) SNV Likely benign 703957 rs79488403 GRCh37: 19:50216050-50216050
GRCh38: 19:49712793-49712793
33 CPT1C NM_001199753.2(CPT1C):c.1915G>A (p.Ala639Thr) SNV Likely benign 476174 rs143478074 GRCh37: 19:50215114-50215114
GRCh38: 19:49711857-49711857
34 CPT1C NM_001199753.2(CPT1C):c.1818G>A (p.Thr606=) SNV Likely benign 476173 rs371409075 GRCh37: 19:50214066-50214066
GRCh38: 19:49710809-49710809
35 CPT1C NM_001199753.2(CPT1C):c.321C>T (p.Ala107=) SNV Likely benign 476176 rs145821626 GRCh37: 19:50203980-50203980
GRCh38: 19:49700723-49700723
36 CPT1C NM_001136052.2(CPT1C):c.438C>A (p.Pro146=) SNV Likely benign 704495 rs372366841 GRCh37: 19:50204097-50204097
GRCh38: 19:49700840-49700840
37 CPT1C NM_001136052.2(CPT1C):c.1716C>T (p.Cys572=) SNV Likely benign 704902 rs147638606 GRCh37: 19:50213997-50213997
GRCh38: 19:49710740-49710740
38 CPT1C NM_001136052.2(CPT1C):c.1929G>A (p.Leu643=) SNV Likely benign 706027 rs771394188 GRCh37: 19:50215161-50215161
GRCh38: 19:49711904-49711904
39 CPT1C NM_001136052.2(CPT1C):c.2226C>T (p.Asp742=) SNV Likely benign 706418 rs138794903 GRCh37: 19:50216709-50216709
GRCh38: 19:49713452-49713452
40 CPT1C NM_001136052.2(CPT1C):c.1416+7C>T SNV Likely benign 733169 rs368891420 GRCh37: 19:50210887-50210887
GRCh38: 19:49707630-49707630
41 CPT1C NM_001136052.2(CPT1C):c.2132T>A (p.Ile711Asn) SNV Likely benign 770072 rs553087160 GRCh37: 19:50216260-50216260
GRCh38: 19:49713003-49713003
42 CPT1C NM_001199753.2(CPT1C):c.2392A>G (p.Met798Val) SNV Likely benign 542770 rs113511313 GRCh37: 19:50216842-50216842
GRCh38: 19:49713585-49713585
43 CPT1C NM_001136052.2(CPT1C):c.1417-8G>A SNV Benign 771627 rs374640833 GRCh37: 19:50211972-50211972
GRCh38: 19:49708715-49708715
44 CPT1C NM_001199753.2(CPT1C):c.1524A>G (p.Thr508=) SNV Benign 542771 rs181225621 GRCh37: 19:50212054-50212054
GRCh38: 19:49708797-49708797
45 CPT1C NM_001136052.2(CPT1C):c.1698+7T>A SNV Benign 476172 rs201870376 GRCh37: 19:50213748-50213748
GRCh38: 19:49710491-49710491
46 CPT1C NM_001199753.2(CPT1C):c.1401C>T (p.Ser467=) SNV Benign 476169 rs144722270 GRCh37: 19:50210832-50210832
GRCh38: 19:49707575-49707575
47 CPT1C NM_001199753.2(CPT1C):c.1494C>T (p.Asp498=) SNV Benign 476170 rs61747405 GRCh37: 19:50212024-50212024
GRCh38: 19:49708767-49708767
48 CPT1C NM_001136052.2(CPT1C):c.963C>T (p.His321=) SNV Benign 704317 rs199774629 GRCh37: 19:50209197-50209197
GRCh38: 19:49705940-49705940
49 CPT1C NM_001136052.2(CPT1C):c.1350C>T (p.Asn450=) SNV Benign 704489 rs111713532 GRCh37: 19:50210814-50210814
GRCh38: 19:49707557-49707557

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

72
# Symbol AA change Variation ID SNP ID
1 CPT1C p.Arg37Cys VAR_073433 rs786204767

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 Golgi apparatus GO:0005794 9.63 UBA5 SPG21 KIF1C GBA2 DDHD2 ATL1
2 endoplasmic reticulum membrane GO:0005789 9.5 UBA5 REEP1 PNPLA6 GBA2 FA2H CPT1C
3 endoplasmic reticulum tubular network GO:0071782 9.26 REEP1 ATL1
4 endoplasmic reticulum GO:0005783 9.23 UBA5 REEP1 PNPLA6 KIF1C GBA2 FA2H

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

# Name GO ID Score Top Affiliating Genes
1 sphingolipid metabolic process GO:0006665 9.32 GBA2 FA2H
2 phosphatidic acid biosynthetic process GO:0006654 9.26 DDHD2 DDHD1
3 positive regulation of mitochondrial fission GO:0090141 9.16 DDHD2 DDHD1
4 lipid catabolic process GO:0016042 9.13 PNPLA6 DDHD2 DDHD1
5 lipid metabolic process GO:0006629 9.1 PNPLA6 GBA2 FA2H DDHD2 DDHD1 CPT1C

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 9.35 PNPLA6 GBA2 DDHD2 DDHD1 ATL1
2 phospholipase activity GO:0004620 8.62 DDHD2 DDHD1

Sources for Spastic Paraplegia 73, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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