SPG49
MCID: SPS126
MIFTS: 39

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, 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 58 76 30 13 6 74
Spg49 58 12 54 60 76
Autosomal Recessive Spastic Paraplegia Type 49 12 54 60
Hereditary Sensory and Autonomic Neuropathy Due to Tecpr2 Mutation 54 60
Hereditary Spastic Paraplegia 49 12 15
Hsan Due to Tecpr2 Mutation 54 60
Paraplegia, Spastic, Type 49, Autosomal Recessive 41
Autosomal Recessive Spastic Paraplegia 49 12
Autosomal Recessive Spastic Paraplegia-49 54
Tecpr2 54

Characteristics:

Orphanet epidemiological data:

60
hereditary sensory and autonomic neuropathy due to tecpr2 mutation
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

58
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:

33
spastic paraplegia 49, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Spastic Paraplegia 49, Autosomal Recessive

UniProtKB/Swiss-Prot : 76 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 spastic paraparesis and vici syndrome, 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 are Senescence and Autophagy in Cancer and Pink/Parkin Mediated Mitophagy. 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 : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 320385Disease definitionHereditary 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 : 58 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 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 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 22)
# Related Disease Score Top Affiliating Genes
1 spastic paraparesis 32.0 SPG11 SPG7 TECPR2
2 vici syndrome 31.7 EPG5 SNX14 TECPR2
3 spasticity 31.7 SPG7 TECPR2
4 neurodegeneration with brain iron accumulation 5 31.7 SNX14 TECPR2 WDR45
5 spastic paraplegia 15, autosomal recessive 31.1 SPG11 SPG7 TECPR2 ZFYVE26
6 spastic paraplegia type 49 11.5
7 birdshot chorioretinopathy 11.3
8 spastic paraplegia 48, autosomal recessive 10.0 SPG11 ZFYVE26
9 spastic paraplegia 35, autosomal recessive 10.0 SPG11 ZFYVE26
10 neuropathy, hereditary sensory and autonomic, type iii 10.0
11 alacrima, achalasia, and mental retardation syndrome 10.0
12 motor neuron disease 10.0
13 autonomic neuropathy 10.0
14 neuroaxonal dystrophy 10.0
15 neuropathy 10.0
16 dysautonomia 10.0
17 spastic paraplegia 32, autosomal recessive 9.9 SPG11 SPG7
18 spastic paraplegia 4, autosomal dominant 9.8 SPG11 SPG7
19 spastic paraplegia 11, autosomal recessive 9.8 SPG11 SPG7
20 paraplegia 9.7 SPG11 SPG7 ZFYVE26
21 autosomal recessive cerebellar ataxia 9.7 SNX14 SPG7
22 hereditary spastic paraplegia 9.7 SPG11 SPG7 ZFYVE26

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:

60 33 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 recurrent respiratory infections 60 33 hallmark (90%) Very frequent (99-80%) HP:0002205
2 short neck 60 33 frequent (33%) Frequent (79-30%) HP:0000470
3 intellectual disability 60 33 frequent (33%) Frequent (79-30%) HP:0001249
4 dysarthria 60 33 frequent (33%) Frequent (79-30%) HP:0001260
5 global developmental delay 60 33 frequent (33%) Frequent (79-30%) HP:0001263
6 microcephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000252
7 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322
8 brachycephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000248
9 full cheeks 60 33 frequent (33%) Frequent (79-30%) HP:0000293
10 broad neck 60 33 frequent (33%) Frequent (79-30%) HP:0000475
11 gait ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0002066
12 dysmetria 60 33 frequent (33%) Frequent (79-30%) HP:0001310
13 dental crowding 60 33 frequent (33%) Frequent (79-30%) HP:0000678
14 round face 60 33 frequent (33%) Frequent (79-30%) HP:0000311
15 areflexia 60 33 frequent (33%) Frequent (79-30%) HP:0001284
16 low anterior hairline 60 33 frequent (33%) Frequent (79-30%) HP:0000294
17 generalized hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001290
18 hypomimic face 60 33 frequent (33%) Frequent (79-30%) HP:0000338
19 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
20 cerebellar atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0001272
21 hypoplasia of the corpus callosum 60 33 occasional (7.5%) Occasional (29-5%) HP:0002079
22 cerebral atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0002059
23 central apnea 60 33 occasional (7.5%) Occasional (29-5%) HP:0002871
24 gastroesophageal reflux 33 HP:0002020
25 spastic paraplegia 33 HP:0001258
26 spastic gait 33 HP:0002064

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
dysarthria
dysmetria
spastic gait
cerebral atrophy
hypotonia
more
Growth Height:
short stature

Head And Neck Face:
round face
hypomimia

Skin Nails Hair Hair:
low anterior hairline

Head And Neck Neck:
short broad neck

Growth Other:
chubby appearance

Head And Neck Head:
microcephaly
brachycephaly

Head And Neck Teeth:
dental crowding

Neurologic Peripheral Nervous System:
areflexia

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 30 TECPR2

Anatomical Context for Spastic Paraplegia 49, Autosomal Recessive

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

42
Brain

Publications for Spastic Paraplegia 49, Autosomal Recessive

Variations for Spastic Paraplegia 49, Autosomal Recessive

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

6 (show top 50) (show all 116)
# Gene Variation Type Significance SNP ID Assembly Location
1 TECPR2 NM_014844.4(TECPR2): c.1802C> T (p.Pro601Leu) single nucleotide variant Benign rs118141823 GRCh37 Chromosome 14, 102900956: 102900956
2 TECPR2 NM_014844.4(TECPR2): c.1802C> T (p.Pro601Leu) single nucleotide variant Benign rs118141823 GRCh38 Chromosome 14, 102434619: 102434619
3 TECPR2 NM_014844.4(TECPR2): c.3275C> T (p.Ser1092Leu) single nucleotide variant Likely benign rs72700618 GRCh37 Chromosome 14, 102916165: 102916165
4 TECPR2 NM_014844.4(TECPR2): c.3275C> T (p.Ser1092Leu) single nucleotide variant Likely benign rs72700618 GRCh38 Chromosome 14, 102449828: 102449828
5 TECPR2 NM_014844.4(TECPR2): c.3416delT (p.Leu1139Argfs) deletion Pathogenic/Likely pathogenic rs751970061 GRCh37 Chromosome 14, 102918740: 102918740
6 TECPR2 NM_014844.4(TECPR2): c.3416delT (p.Leu1139Argfs) deletion Pathogenic/Likely pathogenic rs751970061 GRCh38 Chromosome 14, 102452403: 102452403
7 TECPR2 NM_014844.4(TECPR2): c.952-5G> A single nucleotide variant Likely benign rs55716270 GRCh37 Chromosome 14, 102894582: 102894582
8 TECPR2 NM_014844.4(TECPR2): c.952-5G> A single nucleotide variant Likely benign rs55716270 GRCh38 Chromosome 14, 102428245: 102428245
9 TECPR2 NM_014844.4(TECPR2): c.1471G> A (p.Glu491Lys) single nucleotide variant Uncertain significance rs751957510 GRCh37 Chromosome 14, 102900625: 102900625
10 TECPR2 NM_014844.4(TECPR2): c.1471G> A (p.Glu491Lys) single nucleotide variant Uncertain significance rs751957510 GRCh38 Chromosome 14, 102434288: 102434288
11 TECPR2 NM_014844.4(TECPR2): c.2941C> A (p.Gln981Lys) single nucleotide variant Benign rs62000389 GRCh38 Chromosome 14, 102445813: 102445813
12 TECPR2 NM_014844.4(TECPR2): c.2941C> A (p.Gln981Lys) single nucleotide variant Benign rs62000389 GRCh37 Chromosome 14, 102912150: 102912150
13 TECPR2 NM_014844.4(TECPR2): c.1319delT (p.Leu440Argfs) deletion Pathogenic rs750908377 GRCh38 Chromosome 14, 102432030: 102432030
14 TECPR2 NM_014844.4(TECPR2): c.1319delT (p.Leu440Argfs) deletion Pathogenic rs750908377 GRCh37 Chromosome 14, 102898367: 102898367
15 TECPR2 NM_014844.4(TECPR2): c.1614A> G (p.Pro538=) single nucleotide variant Benign rs17791240 GRCh37 Chromosome 14, 102900768: 102900768
16 TECPR2 NM_014844.4(TECPR2): c.1614A> G (p.Pro538=) single nucleotide variant Benign rs17791240 GRCh38 Chromosome 14, 102434431: 102434431
17 TECPR2 NM_014844.5(TECPR2): c.2050C> G (p.Leu684Val) single nucleotide variant Benign rs45467297 GRCh37 Chromosome 14, 102901204: 102901204
18 TECPR2 NM_014844.5(TECPR2): c.2050C> G (p.Leu684Val) single nucleotide variant Benign rs45467297 GRCh38 Chromosome 14, 102434867: 102434867
19 TECPR2 NM_014844.4(TECPR2): c.1315C> T (p.Pro439Ser) single nucleotide variant Benign rs2273906 GRCh37 Chromosome 14, 102898363: 102898363
20 TECPR2 NM_014844.4(TECPR2): c.1315C> T (p.Pro439Ser) single nucleotide variant Benign rs2273906 GRCh38 Chromosome 14, 102432026: 102432026
21 TECPR2 NM_014844.4(TECPR2): c.4089G> A (p.Ala1363=) single nucleotide variant Benign/Likely benign rs139314486 GRCh37 Chromosome 14, 102964447: 102964447
22 TECPR2 NM_014844.4(TECPR2): c.4089G> A (p.Ala1363=) single nucleotide variant Benign/Likely benign rs139314486 GRCh38 Chromosome 14, 102498110: 102498110
23 TECPR2 NC_000014.9: g.(?_102431796)_(102502481_?)dup duplication Uncertain significance GRCh38 Chromosome 14, 102431796: 102502481
24 TECPR2 NC_000014.9: g.(?_102431796)_(102502481_?)dup duplication Uncertain significance GRCh37 Chromosome 14, 102898133: 102968818
25 TECPR2 NM_014844.4(TECPR2): c.1156G> A (p.Ala386Thr) single nucleotide variant Benign rs11845676 GRCh37 Chromosome 14, 102898204: 102898204
26 TECPR2 NM_014844.4(TECPR2): c.1156G> A (p.Ala386Thr) single nucleotide variant Benign rs11845676 GRCh38 Chromosome 14, 102431867: 102431867
27 TECPR2 NM_014844.4(TECPR2): c.1415C> T (p.Thr472Ile) single nucleotide variant Uncertain significance rs370462085 GRCh37 Chromosome 14, 102898463: 102898463
28 TECPR2 NM_014844.4(TECPR2): c.1415C> T (p.Thr472Ile) single nucleotide variant Uncertain significance rs370462085 GRCh38 Chromosome 14, 102432126: 102432126
29 TECPR2 NM_014844.4(TECPR2): c.1644T> G (p.Asn548Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs72700613 GRCh37 Chromosome 14, 102900798: 102900798
30 TECPR2 NM_014844.4(TECPR2): c.1644T> G (p.Asn548Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs72700613 GRCh38 Chromosome 14, 102434461: 102434461
31 TECPR2 NM_014844.4(TECPR2): c.2199C> T (p.Ala733=) single nucleotide variant Benign rs761750187 GRCh37 Chromosome 14, 102901353: 102901353
32 TECPR2 NM_014844.4(TECPR2): c.2199C> T (p.Ala733=) single nucleotide variant Benign rs761750187 GRCh38 Chromosome 14, 102435016: 102435016
33 TECPR2 NM_014844.4(TECPR2): c.53A> G (p.Tyr18Cys) single nucleotide variant Uncertain significance rs150645913 GRCh38 Chromosome 14, 102376774: 102376774
34 TECPR2 NM_014844.4(TECPR2): c.53A> G (p.Tyr18Cys) single nucleotide variant Uncertain significance rs150645913 GRCh37 Chromosome 14, 102843111: 102843111
35 TECPR2 NM_014844.4(TECPR2): c.1606G> C (p.Gly536Arg) single nucleotide variant Uncertain significance rs186595127 GRCh37 Chromosome 14, 102900760: 102900760
36 TECPR2 NM_014844.4(TECPR2): c.1606G> C (p.Gly536Arg) single nucleotide variant Uncertain significance rs186595127 GRCh38 Chromosome 14, 102434423: 102434423
37 TECPR2 NM_014844.4(TECPR2): c.1811C> T (p.Ala604Val) single nucleotide variant Uncertain significance rs1060502180 GRCh37 Chromosome 14, 102900965: 102900965
38 TECPR2 NM_014844.4(TECPR2): c.1811C> T (p.Ala604Val) single nucleotide variant Uncertain significance rs1060502180 GRCh38 Chromosome 14, 102434628: 102434628
39 TECPR2 NM_014844.4(TECPR2): c.1971C> T (p.Ala657=) single nucleotide variant Likely benign rs373400063 GRCh37 Chromosome 14, 102901125: 102901125
40 TECPR2 NM_014844.4(TECPR2): c.1971C> T (p.Ala657=) single nucleotide variant Likely benign rs373400063 GRCh38 Chromosome 14, 102434788: 102434788
41 TECPR2 NM_014844.4(TECPR2): c.1981G> A (p.Glu661Lys) single nucleotide variant Uncertain significance rs144915346 GRCh37 Chromosome 14, 102901135: 102901135
42 TECPR2 NM_014844.4(TECPR2): c.1981G> A (p.Glu661Lys) single nucleotide variant Uncertain significance rs144915346 GRCh38 Chromosome 14, 102434798: 102434798
43 TECPR2 NM_014844.4(TECPR2): c.2939G> C (p.Arg980Thr) single nucleotide variant Benign rs144147210 GRCh38 Chromosome 14, 102445811: 102445811
44 TECPR2 NM_014844.4(TECPR2): c.2939G> C (p.Arg980Thr) single nucleotide variant Benign rs144147210 GRCh37 Chromosome 14, 102912148: 102912148
45 TECPR2 NM_014844.4(TECPR2): c.3104A> G (p.Asp1035Gly) single nucleotide variant Uncertain significance rs1060502181 GRCh38 Chromosome 14, 102449657: 102449657
46 TECPR2 NM_014844.4(TECPR2): c.3104A> G (p.Asp1035Gly) single nucleotide variant Uncertain significance rs1060502181 GRCh37 Chromosome 14, 102915994: 102915994
47 TECPR2 NM_014844.4(TECPR2): c.3492G> A (p.Gln1164=) single nucleotide variant Likely benign rs143960870 GRCh38 Chromosome 14, 102452479: 102452479
48 TECPR2 NM_014844.4(TECPR2): c.3492G> A (p.Gln1164=) single nucleotide variant Likely benign rs143960870 GRCh37 Chromosome 14, 102918816: 102918816
49 TECPR2 NM_014844.4(TECPR2): c.3525C> T (p.Ala1175=) single nucleotide variant Likely benign rs559134152 GRCh38 Chromosome 14, 102452512: 102452512
50 TECPR2 NM_014844.4(TECPR2): c.3525C> T (p.Ala1175=) single nucleotide variant Likely benign rs559134152 GRCh37 Chromosome 14, 102918849: 102918849

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 10.98 MAP1LC3B SQSTM1
2
Show member pathways
10.29 MAP1LC3B SQSTM1

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 MAP1LC3B SQSTM1
2 lysosomal membrane GO:0005765 8.8 SNX14 SPG11 ZFYVE26

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 SPG7 SQSTM1
2 autophagy of mitochondrion GO:0000422 9.33 MAP1LC3B SQSTM1 WDR45
3 macroautophagy GO:0016236 9.32 MAP1LC3B SQSTM1
4 autophagosome assembly GO:0000045 9.26 MAP1LC3B WDR45
5 autophagosome maturation GO:0097352 9.13 EPG5 MAP1LC3B SNX14
6 autophagy GO:0006914 9.02 EPG5 MAP1LC3B SQSTM1 TECPR2 WDR45

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 WDR45 ZFYVE26
2 phosphatidylinositol-3,5-bisphosphate binding GO:0080025 8.62 SNX14 WDR45

Sources for Spastic Paraplegia 49, Autosomal Recessive

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