SPG49
MCID: SPS126
MIFTS: 44

Spastic Paraplegia 49, Autosomal Recessive (SPG49)

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 49, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 49, Autosomal Recessive:

Name: Spastic Paraplegia 49, Autosomal Recessive 57 73 29 13 6 71
Spg49 57 12 20 58 73
Autosomal Recessive Spastic Paraplegia Type 49 12 20 58
Hereditary Sensory and Autonomic Neuropathy Due to Tecpr2 Mutation 20 58
Hereditary Spastic Paraplegia 49 12 15
Hsan Due to Tecpr2 Mutation 20 58
Paraplegia, Spastic, Type 49, Autosomal Recessive 39
Autosomal Recessive Spastic Paraplegia 49 12
Autosomal Recessive Spastic Paraplegia-49 20
Tecpr2 20

Characteristics:

Orphanet epidemiological data:

58
hereditary sensory and autonomic neuropathy due to tecpr2 mutation
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in the first 2 years of life
central apneic episodes may be fatal
described in individuals of jewish bukharian descent


HPO:

31
spastic paraplegia 49, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Spastic Paraplegia 49, Autosomal Recessive

UniProtKB/Swiss-Prot : 73 Spastic paraplegia 49, autosomal recessive: 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. Complicated forms are recognized by additional variable features including spastic quadriparesis, seizures, dementia, amyotrophy, extrapyramidal disturbance, cerebral or cerebellar atrophy, optic atrophy, and peripheral neuropathy, as well as by extra neurological manifestations. SPG49 is characterized by delayed psychomotor development, mental retardation, and onset of spastic paraplegia in the first decade. Affected individuals also have dysmorphic features, thin corpus callosum on brain imaging, and episodes of central apnea, which may be fatal.

MalaCards based summary : Spastic Paraplegia 49, Autosomal Recessive, also known as spg49, is related to nescav syndrome and neuroaxonal dystrophy, and has symptoms including gait ataxia An important gene associated with Spastic Paraplegia 49, Autosomal Recessive is TECPR2 (Tectonin Beta-Propeller Repeat Containing 2). Related phenotypes are recurrent respiratory infections and intellectual disability

Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the TECPR2 gene on chromosome 14q32.

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 320385DefinitionHereditary sensory and autonomic neuropathy due to TECPR2 mutation is a rare genetic peripheral neuropathy characterized by early hypotonia evolving to spastic paraparesis, areflexia, decreased pain and temperature sensitivity, autonomic neuropathy, gastroesophageal reflux disease, recurrent pneumonia and respiratory problems. Patients also have intellectual disability and dysmorphic features, including mild brachycephalic microcephaly, short broad neck, low anterior hairline and coarse face.Visit the Orphanet disease page for more resources.

OMIM® : 57 SPG49 is an autosomal recessive complicated form of spastic paraplegia, a neurodegenerative disorder of the corticospinal tracts. It is characterized by delayed psychomotor development, mental retardation, and onset of spastic paraplegia in the first decade. Affected individuals also have dysmorphic features, thin corpus callosum on brain imaging, and episodes of central apnea, which may be fatal (summary by Oz-Levi et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see 270800. (615031) (Updated 05-Mar-2021)

Related Diseases for Spastic Paraplegia 49, 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, 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 49, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 92)
# Related Disease Score Top Affiliating Genes
1 nescav syndrome 31.6 ZFYVE26 TECPR2
2 neuroaxonal dystrophy 31.3 WDR45 TECPR2
3 neuropathy 31.2 ZFYVE26 TECPR2 SPG7 SPG11
4 spasticity 31.0 TECPR2 SPG7 DDHD1
5 vici syndrome 31.0 WDR45 TECPR2 SNX14 EPG5
6 spastic paraparesis 30.8 TECPR2 SPG7 SPG11 DDHD1
7 neurodegeneration with brain iron accumulation 5 30.7 WDR45 TECPR2 SPG11 SNX14 EPG5
8 neurodegeneration with brain iron accumulation 30.2 WDR45 TECPR2 SPG11 SNX14 EPG5 DDHD1
9 spinocerebellar ataxia, autosomal recessive 20 30.0 ZFYVE26 WDR45 TECPR2 SPG11 SNX14 EPG5
10 paraplegia 29.7 ZFYVE26 TECPR2 SPG7 SPG21 SPG11 DDHD2
11 spastic paraplegia 7, autosomal recessive 29.6 SPG7 SPG11
12 hereditary spastic paraplegia 29.5 ZFYVE26 TECPR2 SPG7 SPG21 SPG11 DDHD2
13 spastic paraplegia 56, autosomal recessive 27.9 ZFYVE26 SPG7 SPG21 SPG11 DDHD2 DDHD1
14 spastic paraplegia type 49 11.4
15 autonomic neuropathy 11.1
16 birdshot chorioretinopathy 11.1
17 motor neuron disease 11.0
18 mental retardation, fra12a type 10.9
19 alzheimer disease 13 10.9
20 spastic paraplegia 29, autosomal dominant 10.1 ZFYVE26 SPG21
21 amyotrophic lateral sclerosis type 5 10.1 ZFYVE26 SPG11
22 spastic paraplegia 25, autosomal recessive 10.1 ZFYVE26 SPG21
23 spastic paraplegia 19, autosomal dominant 10.1 ZFYVE26 SPG21
24 spastic paraplegia 37, autosomal dominant 10.1 ZFYVE26 SPG21
25 spastic paraplegia 34, x-linked 10.1 ZFYVE26 SPG21
26 alacrima, achalasia, and mental retardation syndrome 10.1
27 neuropathy, hereditary sensory, type iic 10.1 SPG21 SPG11
28 charcot-marie-tooth disease, axonal, type 2h 10.1 SPG21 CYP2U1
29 charcot-marie-tooth disease, recessive intermediate d 10.1 SPG21 CYP2U1
30 spastic paraplegia 44, autosomal recessive 10.1 SPG21 SPG11
31 charcot-marie-tooth disease type 2a2a 10.1 SPG21 CYP2U1
32 mast syndrome 10.0 SPG21 SPG11
33 sensory peripheral neuropathy 10.0
34 hereditary spastic paraplegia 23 10.0 ZFYVE26 SPG21 SPG11
35 spastic paraplegia 52, autosomal recessive 10.0 ZFYVE26 SPG21 SPG11
36 spastic paraplegia 61, autosomal recessive 10.0 ZFYVE26 SPG21 SPG11
37 spastic paraplegia 33, autosomal dominant 10.0 ZFYVE26 SPG21 SPG11
38 spastic paraplegia 12, autosomal dominant 10.0 ZFYVE26 SPG21 SPG11
39 charcot-marie-tooth disease, axonal, type 2p 10.0 SPG21 CYP2U1
40 charcot-marie-tooth disease, axonal, type 2r 10.0 ZFYVE26 SPG21 CYP2U1
41 spastic paraplegia 17, autosomal dominant 10.0 ZFYVE26 SPG21 SPG11
42 charcot-marie-tooth disease, axonal, type 2b2 10.0 SPG21 CYP2U1
43 charcot-marie-tooth disease, axonal, type 2t 9.9 ZFYVE26 SPG21 CYP2U1
44 alcohol-related neurodevelopmental disorder 9.9 WDR45 SNX14 EPG5
45 neuropathy, hereditary sensory and autonomic, type iii 9.9
46 respiratory failure 9.9
47 neuromuscular disease 9.9
48 dysautonomia 9.9
49 spastic paraplegia 45, autosomal recessive 9.9 SPG21 SPG11 DDHD2
50 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome 9.8 DDHD2 DDHD1

Graphical network of the top 20 diseases related to Spastic Paraplegia 49, Autosomal Recessive:



Diseases related to Spastic Paraplegia 49, Autosomal Recessive

Symptoms & Phenotypes for Spastic Paraplegia 49, Autosomal Recessive

Human phenotypes related to Spastic Paraplegia 49, Autosomal Recessive:

58 31 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 recurrent respiratory infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0002205
2 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
3 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
4 short neck 58 31 frequent (33%) Frequent (79-30%) HP:0000470
5 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
6 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
7 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
8 brachycephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000248
9 full cheeks 58 31 frequent (33%) Frequent (79-30%) HP:0000293
10 broad neck 58 31 frequent (33%) Frequent (79-30%) HP:0000475
11 dental crowding 58 31 frequent (33%) Frequent (79-30%) HP:0000678
12 areflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001284
13 low anterior hairline 58 31 frequent (33%) Frequent (79-30%) HP:0000294
14 dysmetria 58 31 frequent (33%) Frequent (79-30%) HP:0001310
15 round face 58 31 frequent (33%) Frequent (79-30%) HP:0000311
16 gait ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002066
17 generalized hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001290
18 hypomimic face 58 31 frequent (33%) Frequent (79-30%) HP:0000338
19 hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002079
20 cerebellar atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001272
21 cerebral atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002059
22 central apnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002871
23 seizure 31 occasional (7.5%) HP:0001250
24 seizures 58 Occasional (29-5%)
25 gastroesophageal reflux 31 HP:0002020
26 spastic paraplegia 31 HP:0001258
27 spastic gait 31 HP:0002064

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
dysarthria
dysmetria
cerebral atrophy
spastic gait
hypotonia
more
Growth Height:
short stature

Neurologic Peripheral Nervous System:
areflexia

Head And Neck Face:
round face
hypomimia

Head And Neck Neck:
short broad neck

Growth Other:
chubby appearance

Head And Neck Head:
microcephaly
brachycephaly

Head And Neck Teeth:
dental crowding

Skin Nails Hair Hair:
low anterior hairline

Muscle Soft Tissue:
hypotonia

Abdomen Gastrointestinal:
gastroesophageal reflux disease

Respiratory:
central apnea, episodic

Clinical features from OMIM®:

615031 (Updated 05-Mar-2021)

UMLS symptoms related to Spastic Paraplegia 49, Autosomal Recessive:


gait ataxia

MGI Mouse Phenotypes related to Spastic Paraplegia 49, Autosomal Recessive:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.28 CYP2U1 DDHD2 EPG5 SNX14 SPG11 SPG7

Drugs & Therapeutics for Spastic Paraplegia 49, Autosomal Recessive

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Natural History Study in Children With a TECPR2 Mutation Not yet recruiting NCT04485221

Search NIH Clinical Center for Spastic Paraplegia 49, Autosomal Recessive

Genetic Tests for Spastic Paraplegia 49, Autosomal Recessive

Genetic tests related to Spastic Paraplegia 49, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Spastic Paraplegia 49, Autosomal Recessive 29 TECPR2

Anatomical Context for Spastic Paraplegia 49, Autosomal Recessive

Publications for Spastic Paraplegia 49, Autosomal Recessive

Articles related to Spastic Paraplegia 49, Autosomal Recessive:

# Title Authors PMID Year
1
Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis. 6 57
23176824 2012
2
A tecpr2 knockout mouse exhibits age-dependent neuroaxonal dystrophy associated with autophagosome accumulation. 61
33218264 2020
3
Lysosomal targeting of autophagosomes by the TECPR domain of TECPR2. 61
33213269 2020
4
WES in a family trio suggests involvement of TECPR2 in a complex form of progressive motor neuron disease. 61
27406698 2016
5
Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism. 61
26715604 2016
6
TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability. 61
26542466 2016
7
ZFYVE26/SPASTIZIN: a close link between complicated hereditary spastic paraparesis and autophagy. 61
24284334 2014

Variations for Spastic Paraplegia 49, Autosomal Recessive

ClinVar genetic disease variations for Spastic Paraplegia 49, Autosomal Recessive:

6 (show top 50) (show all 245)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TECPR2 NM_014844.5(TECPR2):c.1319del (p.Leu440fs) Deletion Pathogenic 374308 rs750908377 14:102898367-102898367 14:102432030-102432030
2 TECPR2 NM_014844.5(TECPR2):c.1568del (p.Ser523fs) Deletion Pathogenic 548608 rs1555451465 14:102900722-102900722 14:102434385-102434385
3 TECPR2 NC_000014.9:g.(?_102376712)_(102376950_?)del Deletion Pathogenic 830697 14:102843049-102843287
4 TECPR2 NM_014844.5(TECPR2):c.2128_2131del (p.Glu710fs) Microsatellite Pathogenic 936834 14:102901277-102901280 14:102434940-102434943
5 TECPR2 NM_014844.5(TECPR2):c.3072G>A (p.Trp1024Ter) SNV Pathogenic 957432 14:102912281-102912281 14:102445944-102445944
6 TECPR2 NM_014844.5(TECPR2):c.3416del (p.Leu1139fs) Deletion Pathogenic/Likely pathogenic 39675 rs751970061 14:102918740-102918740 14:102452403-102452403
7 TECPR2 NM_014844.5(TECPR2):c.694dup (p.Thr232fs) Duplication Likely pathogenic 996006 14:102891369-102891370 14:102425032-102425033
8 TECPR2 NM_014844.5(TECPR2):c.4103G>A (p.Trp1368Ter) SNV Likely pathogenic 996007 14:102964461-102964461 14:102498124-102498124
9 TECPR2 NM_014844.5(TECPR2):c.774del (p.Asp259fs) Deletion Likely pathogenic 450815 rs772483312 14:102891448-102891448 14:102425111-102425111
10 TECPR2 NM_014844.5(TECPR2):c.1028_1032del (p.Lys343fs) Deletion Likely pathogenic 450814 rs1359602238 14:102894661-102894665 14:102428324-102428328
11 TECPR2 NM_014844.5(TECPR2):c.571C>T (p.Gln191Ter) SNV Likely pathogenic 978471 14:102881063-102881063 14:102414726-102414726
12 TECPR2 NM_014844.5(TECPR2):c.2829del (p.Asn944fs) Deletion Likely pathogenic 973501 14:102910059-102910059 14:102443722-102443722
13 TECPR2 NC_000014.9:g.(?_102407328)_(102450659_?)dup Duplication Likely pathogenic 832427 14:102873665-102916996
14 TECPR2 NC_000014.9:g.(?_102465131)_(102465314_?)dup Duplication Likely pathogenic 832428 14:102931468-102931651
15 TECPR2 NM_014844.5(TECPR2):c.218_219+15del Deletion Likely pathogenic 570798 rs1567314662 14:102843271-102843287 14:102376934-102376950
16 TECPR2 NM_014844.5(TECPR2):c.3580A>G (p.Thr1194Ala) SNV Uncertain significance 579154 rs746763770 14:102918904-102918904 14:102452567-102452567
17 TECPR2 NM_014844.5(TECPR2):c.67A>G (p.Ile23Val) SNV Uncertain significance 580029 rs776524033 14:102843125-102843125 14:102376788-102376788
18 TECPR2 NM_014844.5(TECPR2):c.3514C>G (p.Arg1172Gly) SNV Uncertain significance 582119 rs762957508 14:102918838-102918838 14:102452501-102452501
19 TECPR2 NM_014844.5(TECPR2):c.1213G>A (p.Glu405Lys) SNV Uncertain significance 582659 rs148556964 14:102898261-102898261 14:102431924-102431924
20 TECPR2 NM_014844.5(TECPR2):c.3182T>C (p.Val1061Ala) SNV Uncertain significance 643494 rs1567347217 14:102916072-102916072 14:102449735-102449735
21 TECPR2 NM_014844.5(TECPR2):c.2007_2009TGA[1] (p.Asp670del) Microsatellite Uncertain significance 647491 rs1340395562 14:102901161-102901163 14:102434824-102434826
22 TECPR2 NM_014844.5(TECPR2):c.622A>G (p.Thr208Ala) SNV Uncertain significance 649453 rs536338550 14:102881114-102881114 14:102414777-102414777
23 TECPR2 NM_014844.5(TECPR2):c.2971G>A (p.Gly991Arg) SNV Uncertain significance 660264 rs769632840 14:102912180-102912180 14:102445843-102445843
24 TECPR2 NM_014844.5(TECPR2):c.1397_1399AGA[4] (p.Lys470_Lys471del) Microsatellite Uncertain significance 552924 rs572609303 14:102898443-102898448 14:102432106-102432111
25 TECPR2 NM_014844.5(TECPR2):c.2876G>A (p.Arg959Gln) SNV Uncertain significance 565909 rs763118922 14:102910107-102910107 14:102443770-102443770
26 TECPR2 NM_014844.5(TECPR2):c.1978G>A (p.Ala660Thr) SNV Uncertain significance 566905 rs1567340028 14:102901132-102901132 14:102434795-102434795
27 TECPR2 NM_014844.5(TECPR2):c.632G>A (p.Arg211Lys) SNV Uncertain significance 567108 rs201081739 14:102881124-102881124 14:102414787-102414787
28 TECPR2 NM_014844.5(TECPR2):c.2394+4T>C SNV Uncertain significance 569174 rs1567340516 14:102901552-102901552 14:102435215-102435215
29 TECPR2 NM_014844.5(TECPR2):c.2491G>T (p.Gly831Cys) SNV Uncertain significance 569315 rs201352197 14:102904455-102904455 14:102438118-102438118
30 TECPR2 NM_014844.5(TECPR2):c.1784C>T (p.Thr595Met) SNV Uncertain significance 569873 rs150893437 14:102900938-102900938 14:102434601-102434601
31 TECPR2 NM_014844.5(TECPR2):c.1471G>A (p.Glu491Lys) SNV Uncertain significance 240923 rs751957510 14:102900625-102900625 14:102434288-102434288
32 TECPR2 NM_014844.5(TECPR2):c.1811C>T (p.Ala604Val) SNV Uncertain significance 408912 rs1060502180 14:102900965-102900965 14:102434628-102434628
33 TECPR2 NM_014844.5(TECPR2):c.1415C>T (p.Thr472Ile) SNV Uncertain significance 408915 rs370462085 14:102898463-102898463 14:102432126-102432126
34 TECPR2 NM_014844.5(TECPR2):c.53A>G (p.Tyr18Cys) SNV Uncertain significance 408913 rs150645913 14:102843111-102843111 14:102376774-102376774
35 ANKRD9 NC_000014.8:g.(?_102898133)_(102968818_?)dup Duplication Uncertain significance 417452 14:102898133-102968818 14:102431796-102502481
36 TECPR2 NM_014844.5(TECPR2):c.1235C>T (p.Ser412Leu) SNV Uncertain significance 839227 14:102898283-102898283 14:102431946-102431946
37 TECPR2 NM_014844.5(TECPR2):c.1314G>C (p.Gln438His) SNV Uncertain significance 844902 14:102898362-102898362 14:102432025-102432025
38 TECPR2 NM_014844.5(TECPR2):c.2518G>A (p.Ala840Thr) SNV Uncertain significance 856973 14:102904482-102904482 14:102438145-102438145
39 TECPR2 NM_014844.5(TECPR2):c.3803G>A (p.Ser1268Asn) SNV Uncertain significance 863265 14:102963329-102963329 14:102496992-102496992
40 TECPR2 NM_014844.5(TECPR2):c.715G>A (p.Gly239Arg) SNV Uncertain significance 863424 14:102891392-102891392 14:102425055-102425055
41 TECPR2 NM_014844.5(TECPR2):c.1606G>A (p.Gly536Ser) SNV Uncertain significance 473089 rs186595127 14:102900760-102900760 14:102434423-102434423
42 TECPR2 NM_014844.5(TECPR2):c.95G>A (p.Arg32His) SNV Uncertain significance 540298 rs767622790 14:102843153-102843153 14:102376816-102376816
43 TECPR2 NM_014844.5(TECPR2):c.4030C>G (p.Pro1344Ala) SNV Uncertain significance 540300 rs763133422 14:102964005-102964005 14:102497668-102497668
44 TECPR2 NM_014844.5(TECPR2):c.3386C>A (p.Ser1129Tyr) SNV Uncertain significance 540301 rs139247564 14:102916966-102916966 14:102450629-102450629
45 TECPR2 NM_014844.5(TECPR2):c.566C>T (p.Thr189Ile) SNV Uncertain significance 973834 14:102881058-102881058 14:102414721-102414721
46 TECPR2 NM_014844.5(TECPR2):c.726A>T (p.Leu242=) SNV Uncertain significance 778673 rs748794723 14:102891403-102891403 14:102425066-102425066
47 TECPR2 NM_014844.5(TECPR2):c.879A>G (p.Ser293=) SNV Uncertain significance 703563 rs770891190 14:102891556-102891556 14:102425219-102425219
48 TECPR2 NM_014844.5(TECPR2):c.1861T>G (p.Ser621Ala) SNV Uncertain significance 373216 rs917201729 14:102901015-102901015 14:102434678-102434678
49 TECPR2 NM_014844.5(TECPR2):c.3399G>A (p.Thr1133=) SNV Uncertain significance 758639 rs765318084 14:102916979-102916979 14:102450642-102450642
50 TECPR2 NM_014844.5(TECPR2):c.3590A>G (p.Lys1197Arg) SNV Uncertain significance 958960 14:102918914-102918914 14:102452577-102452577

Expression for Spastic Paraplegia 49, Autosomal Recessive

Search GEO for disease gene expression data for Spastic Paraplegia 49, Autosomal Recessive.

Pathways for Spastic Paraplegia 49, Autosomal Recessive

GO Terms for Spastic Paraplegia 49, Autosomal Recessive

Cellular components related to Spastic Paraplegia 49, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.28 ZFYVE26 WDR45 TECPR2 SPG21 SPG11 EPG5
2 lysosomal membrane GO:0005765 9.13 ZFYVE26 SPG11 SNX14

Biological processes related to Spastic Paraplegia 49, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphatidic acid biosynthetic process GO:0006654 9.26 DDHD2 DDHD1
2 autophagosome maturation GO:0097352 9.16 SNX14 EPG5
3 autophagy GO:0006914 9.13 WDR45 TECPR2 EPG5
4 positive regulation of mitochondrial fission GO:0090141 8.62 DDHD2 DDHD1

Molecular functions related to Spastic Paraplegia 49, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol-3-phosphate binding GO:0032266 9.16 ZFYVE26 WDR45
2 phospholipase activity GO:0004620 8.96 DDHD2 DDHD1
3 phosphatidylinositol-3,5-bisphosphate binding GO:0080025 8.62 WDR45 SNX14

Sources for Spastic Paraplegia 49, Autosomal Recessive

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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