SPG49
MCID: SPS126
MIFTS: 41

Spastic Paraplegia 49, Autosomal Recessive (SPG49)

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 49, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 49, Autosomal Recessive:

Name: Spastic Paraplegia 49, Autosomal Recessive 57 74 29 13 6 72
Spg49 57 12 53 59 74
Autosomal Recessive Spastic Paraplegia Type 49 12 53 59
Hereditary Sensory and Autonomic Neuropathy Due to Tecpr2 Mutation 53 59
Hereditary Spastic Paraplegia 49 12 15
Hsan Due to Tecpr2 Mutation 53 59
Paraplegia, Spastic, Type 49, Autosomal Recessive 40
Autosomal Recessive Spastic Paraplegia 49 12
Autosomal Recessive Spastic Paraplegia-49 53
Tecpr2 53

Characteristics:

Orphanet epidemiological data:

59
hereditary sensory and autonomic neuropathy due to tecpr2 mutation
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

57
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:

32
spastic paraplegia 49, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110801
MeSH 44 D015419
ICD10 33 G11.4
ICD10 via Orphanet 34 G11.4
Orphanet 59 ORPHA320385
UMLS 72 C3542549

Summaries for Spastic Paraplegia 49, Autosomal Recessive

UniProtKB/Swiss-Prot : 74 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 spasticity and spastic paraparesis, and has symptoms including gait ataxia An important gene associated with Spastic Paraplegia 49, Autosomal Recessive is TECPR2 (Tectonin Beta-Propeller Repeat Containing 2), and among its related pathways/superpathways is Senescence and Autophagy in Cancer. Affiliated tissues include brain, and related phenotypes are recurrent respiratory infections and short neck

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

NIH Rare Diseases : 53 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)

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 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 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 47
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 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 all 26)
# Related Disease Score Top Affiliating Genes
1 spasticity 32.2 TECPR2 SPG7
2 spastic paraparesis 32.0 TECPR2 SPG7 SPG11
3 vici syndrome 31.8 TECPR2 SNX14 EPG5
4 neurodegeneration with brain iron accumulation 5 31.8 WDR45 TECPR2 SNX14
5 hereditary spastic paraplegia 31.7 ZFYVE26 SPG7 SPG11
6 spastic paraplegia 15, autosomal recessive 30.9 ZFYVE26 TECPR2 SPG7 SPG11
7 paraplegia 29.6 ZFYVE26 SPG7 SPG11
8 spastic paraplegia type 49 11.6
9 birdshot chorioretinopathy 11.5
10 mental retardation, fra12a type 11.3
11 alacrima, achalasia, and mental retardation syndrome 10.3
12 neuropathy, hereditary sensory and autonomic, type iii 10.1
13 spastic paraplegia 7, autosomal recessive 10.1
14 spastic paraplegia 56, autosomal recessive 10.1
15 autonomic neuropathy 10.1
16 motor neuron disease 10.1
17 neuroaxonal dystrophy 10.1
18 sensory peripheral neuropathy 10.1
19 neuropathy 10.1
20 dysautonomia 10.1
21 spastic paraplegia 48, autosomal recessive 10.1 ZFYVE26 SPG11
22 spastic paraplegia 35, autosomal recessive 10.1 ZFYVE26 SPG11
23 spastic paraplegia 32, autosomal recessive 9.8 SPG7 SPG11
24 spastic paraplegia 4, autosomal dominant 9.7 SPG7 SPG11
25 spastic paraplegia 11, autosomal recessive 9.7 SPG7 SPG11
26 autosomal recessive cerebellar ataxia 9.5 SPG7 SNX14

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:

59 32 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 recurrent respiratory infections 59 32 hallmark (90%) Very frequent (99-80%) HP:0002205
2 short neck 59 32 frequent (33%) Frequent (79-30%) HP:0000470
3 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
4 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
5 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
6 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
7 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
8 brachycephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000248
9 full cheeks 59 32 frequent (33%) Frequent (79-30%) HP:0000293
10 hypomimic face 59 32 frequent (33%) Frequent (79-30%) HP:0000338
11 generalized hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001290
12 areflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001284
13 broad neck 59 32 frequent (33%) Frequent (79-30%) HP:0000475
14 gait ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002066
15 dysmetria 59 32 frequent (33%) Frequent (79-30%) HP:0001310
16 dental crowding 59 32 frequent (33%) Frequent (79-30%) HP:0000678
17 round face 59 32 frequent (33%) Frequent (79-30%) HP:0000311
18 low anterior hairline 59 32 frequent (33%) Frequent (79-30%) HP:0000294
19 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
20 cerebellar atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001272
21 hypoplasia of the corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0002079
22 cerebral atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002059
23 central apnea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002871
24 gastroesophageal reflux 32 HP:0002020
25 spastic paraplegia 32 HP:0001258
26 spastic gait 32 HP:0002064

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dysarthria
dysmetria
spastic gait
cerebral atrophy
hypotonia
more
Growth Height:
short stature

Head And Neck Teeth:
dental crowding

Skin Nails Hair Hair:
low anterior hairline

Head And Neck Neck:
short broad neck

Growth Other:
chubby appearance

Head And Neck Head:
microcephaly
brachycephaly

Neurologic Peripheral Nervous System:
areflexia

Head And Neck Face:
round face
hypomimia

Muscle Soft Tissue:
hypotonia

Abdomen Gastrointestinal:
gastroesophageal reflux disease

Respiratory:
central apnea, episodic

Clinical features from OMIM:

615031

UMLS symptoms related to Spastic Paraplegia 49, Autosomal Recessive:


gait ataxia

Drugs & Therapeutics for Spastic Paraplegia 49, Autosomal Recessive

Search Clinical Trials , 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

MalaCards organs/tissues related to Spastic Paraplegia 49, Autosomal Recessive:

41
Brain

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. 8 71
23176824 2012
2
Hereditary Spastic Paraplegia Overview 71
20301682 2000
3
WES in a family trio suggests involvement of TECPR2 in a complex form of progressive motor neuron disease. 38
27406698 2016
4
Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism. 38
26715604 2016
5
TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability. 38
26542466 2016
6
ZFYVE26/SPASTIZIN: a close link between complicated hereditary spastic paraparesis and autophagy. 38
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 69)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TECPR2 NM_014844.5(TECPR2): c.1319del (p.Leu440fs) deletion Pathogenic rs750908377 14:102898367-102898367 14:102432030-102432030
2 TECPR2 NM_014844.5(TECPR2): c.1568del (p.Ser523fs) deletion Pathogenic rs1555451465 14:102900722-102900722 14:102434385-102434385
3 TECPR2 NM_014844.5(TECPR2): c.3416del (p.Leu1139fs) deletion Pathogenic/Likely pathogenic rs751970061 14:102918740-102918740 14:102452403-102452403
4 TECPR2 NM_014844.4(TECPR2): c.218_219+15del deletion Likely pathogenic 14:102843276-102843292 14:102376939-102376955
5 TECPR2 NM_014844.5(TECPR2): c.1644T> G (p.Asn548Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs72700613 14:102900798-102900798 14:102434461-102434461
6 TECPR2 NM_014844.5(TECPR2): c.1981G> A (p.Glu661Lys) single nucleotide variant Uncertain significance rs144915346 14:102901135-102901135 14:102434798-102434798
7 TECPR2 NM_014844.5(TECPR2): c.53A> G (p.Tyr18Cys) single nucleotide variant Uncertain significance rs150645913 14:102843111-102843111 14:102376774-102376774
8 TECPR2 NM_014844.5(TECPR2): c.1606G> C (p.Gly536Arg) single nucleotide variant Uncertain significance rs186595127 14:102900760-102900760 14:102434423-102434423
9 TECPR2 NM_014844.5(TECPR2): c.1811C> T (p.Ala604Val) single nucleotide variant Uncertain significance rs1060502180 14:102900965-102900965 14:102434628-102434628
10 TECPR2 NC_000014.8: g.(?_102898133)_(102968818_?)dup duplication Uncertain significance 14:102898133-102968818 14:102431796-102502481
11 TECPR2 NM_014844.5(TECPR2): c.1415C> T (p.Thr472Ile) single nucleotide variant Uncertain significance rs370462085 14:102898463-102898463 14:102432126-102432126
12 TECPR2 NM_014844.5(TECPR2): c.1397_1399AGA[5] (p.Lys471del) short repeat Uncertain significance rs572609303 14:102898442-102898445 14:102432123-102432125
13 TECPR2 NM_014844.5(TECPR2): c.1397_1399AGA[4] (p.Lys470_Lys471del) short repeat Uncertain significance rs572609303 14:102898442-102898448 14:102432120-102432125
14 TECPR2 NM_014844.5(TECPR2): c.3991G> A (p.Gly1331Arg) single nucleotide variant Uncertain significance rs143705801 14:102963966-102963966 14:102497629-102497629
15 TECPR2 NM_014844.5(TECPR2): c.1492C> A (p.Gln498Lys) single nucleotide variant Uncertain significance rs1018872661 14:102900646-102900646 14:102434309-102434309
16 TECPR2 NM_014844.5(TECPR2): c.2312T> A (p.Val771Glu) single nucleotide variant Uncertain significance rs1555451565 14:102901466-102901466 14:102435129-102435129
17 TECPR2 NM_014844.5(TECPR2): c.3521A> G (p.Tyr1174Cys) single nucleotide variant Uncertain significance rs767911807 14:102918845-102918845 14:102452508-102452508
18 TECPR2 NM_014844.5(TECPR2): c.95G> A (p.Arg32His) single nucleotide variant Uncertain significance rs767622790 14:102843153-102843153 14:102376816-102376816
19 TECPR2 NM_014844.5(TECPR2): c.4030C> G (p.Pro1344Ala) single nucleotide variant Uncertain significance rs763133422 14:102964005-102964005 14:102497668-102497668
20 TECPR2 NM_014844.5(TECPR2): c.3104A> G (p.Asp1035Gly) single nucleotide variant Uncertain significance rs1060502181 14:102915994-102915994 14:102449657-102449657
21 TECPR2 NM_014844.5(TECPR2): c.1606G> A (p.Gly536Ser) single nucleotide variant Uncertain significance rs186595127 14:102900760-102900760 14:102434423-102434423
22 TECPR2 NM_014844.5(TECPR2): c.1784C> T (p.Thr595Met) single nucleotide variant Uncertain significance 14:102900938-102900938 14:102434601-102434601
23 TECPR2 NM_014844.5(TECPR2): c.2394+4T> C single nucleotide variant Uncertain significance 14:102901552-102901552 14:102435215-102435215
24 TECPR2 NM_014844.5(TECPR2): c.3514C> G (p.Arg1172Gly) single nucleotide variant Uncertain significance 14:102918838-102918838 14:102452501-102452501
25 TECPR2 NM_014844.5(TECPR2): c.3580A> G (p.Thr1194Ala) single nucleotide variant Uncertain significance 14:102918904-102918904 14:102452567-102452567
26 TECPR2 NM_014844.5(TECPR2): c.622A> G (p.Thr208Ala) single nucleotide variant Uncertain significance 14:102881114-102881114 14:102414777-102414777
27 TECPR2 NM_014844.5(TECPR2): c.1255G> A (p.Gly419Ser) single nucleotide variant Uncertain significance 14:102898303-102898303 14:102431966-102431966
28 TECPR2 NM_014844.5(TECPR2): c.2007_2009TGA[1] (p.Asp670del) short repeat Uncertain significance 14:102901161-102901163 14:102434824-102434826
29 TECPR2 NM_014844.5(TECPR2): c.2323G> A (p.Gly775Arg) single nucleotide variant Uncertain significance 14:102901477-102901477 14:102435140-102435140
30 TECPR2 NM_014844.5(TECPR2): c.2330G> A (p.Ser777Asn) single nucleotide variant Uncertain significance 14:102901484-102901484 14:102435147-102435147
31 TECPR2 NM_014844.5(TECPR2): c.2971G> A (p.Gly991Arg) single nucleotide variant Uncertain significance 14:102912180-102912180 14:102445843-102445843
32 TECPR2 NM_014844.5(TECPR2): c.3182T> C (p.Val1061Ala) single nucleotide variant Uncertain significance 14:102916072-102916072 14:102449735-102449735
33 TECPR2 NM_014844.5(TECPR2): c.3466G> A (p.Ala1156Thr) single nucleotide variant Uncertain significance 14:102918790-102918790 14:102452453-102452453
34 TECPR2 NM_014844.5(TECPR2): c.3602C> T (p.Thr1201Met) single nucleotide variant Uncertain significance 14:102918926-102918926 14:102452589-102452589
35 TECPR2 NM_014844.5(TECPR2): c.3793G> A (p.Ala1265Thr) single nucleotide variant Uncertain significance 14:102963319-102963319 14:102496982-102496982
36 TECPR2 NM_014844.5(TECPR2): c.4189G> A (p.Ala1397Thr) single nucleotide variant Uncertain significance 14:102964547-102964547 14:102498210-102498210
37 TECPR2 NM_014844.5(TECPR2): c.1471G> A (p.Glu491Lys) single nucleotide variant Uncertain significance rs751957510 14:102900625-102900625 14:102434288-102434288
38 TECPR2 NM_014844.5(TECPR2): c.3386C> A (p.Ser1129Tyr) single nucleotide variant Uncertain significance rs139247564 14:102916966-102916966 14:102450629-102450629
39 TECPR2 NM_014844.5(TECPR2): c.67A> G (p.Ile23Val) single nucleotide variant Uncertain significance 14:102843125-102843125 14:102376788-102376788
40 TECPR2 NM_014844.5(TECPR2): c.1978G> A (p.Ala660Thr) single nucleotide variant Uncertain significance 14:102901132-102901132 14:102434795-102434795
41 TECPR2 NM_014844.5(TECPR2): c.2491G> T (p.Gly831Cys) single nucleotide variant Uncertain significance 14:102904455-102904455 14:102438118-102438118
42 TECPR2 NM_014844.5(TECPR2): c.541A> G (p.Ser181Gly) single nucleotide variant Uncertain significance 14:102881033-102881033 14:102414696-102414696
43 TECPR2 NM_014844.5(TECPR2): c.2876G> A (p.Arg959Gln) single nucleotide variant Uncertain significance 14:102910107-102910107 14:102443770-102443770
44 TECPR2 NM_014844.5(TECPR2): c.632G> A (p.Arg211Lys) single nucleotide variant Uncertain significance 14:102881124-102881124 14:102414787-102414787
45 TECPR2 NM_014844.5(TECPR2): c.1213G> A (p.Glu405Lys) single nucleotide variant Uncertain significance 14:102898261-102898261 14:102431924-102431924
46 TECPR2 NM_014844.5(TECPR2): c.2900C> T (p.Pro967Leu) single nucleotide variant Uncertain significance 14:102910131-102910131 14:102443794-102443794
47 TECPR2 NM_014844.5(TECPR2): c.3797G> T (p.Gly1266Val) single nucleotide variant Uncertain significance 14:102963323-102963323 14:102496986-102496986
48 TECPR2 NM_014844.5(TECPR2): c.3275C> T (p.Ser1092Leu) single nucleotide variant Likely benign rs72700618 14:102916165-102916165 14:102449828-102449828
49 TECPR2 NM_014844.5(TECPR2): c.952-5G> A single nucleotide variant Likely benign rs55716270 14:102894582-102894582 14:102428245-102428245
50 TECPR2 NM_014844.5(TECPR2): c.1800G> A (p.Glu600=) single nucleotide variant Likely benign rs749351336 14:102900954-102900954 14:102434617-102434617

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

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

# Super pathways Score Top Affiliating Genes
1 10.65 SQSTM1 MAP1LC3B

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 autophagosome GO:0005776 8.96 SQSTM1 MAP1LC3B
2 lysosomal membrane GO:0005765 8.8 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 mitochondrion organization GO:0007005 9.37 SQSTM1 SPG7
2 autophagy of mitochondrion GO:0000422 9.33 WDR45 SQSTM1 MAP1LC3B
3 macroautophagy GO:0016236 9.32 SQSTM1 MAP1LC3B
4 autophagosome assembly GO:0000045 9.26 WDR45 MAP1LC3B
5 autophagosome maturation GO:0097352 9.13 SNX14 MAP1LC3B EPG5
6 autophagy GO:0006914 9.02 WDR45 TECPR2 SQSTM1 MAP1LC3B EPG5

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 8.96 ZFYVE26 WDR45
2 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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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