SPG48
MCID: SPS071
MIFTS: 37

Spastic Paraplegia 48, Autosomal Recessive (SPG48)

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 48, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 48, Autosomal Recessive:

Name: Spastic Paraplegia 48, Autosomal Recessive 57 74 29 13 6 72
Spg48 57 12 59 74
Autosomal Recessive Spastic Paraplegia Type 48 12 59
Hereditary Spastic Paraplegia 48 12 15
Paraplegia, Spastic, Type 48, Autosomal Recessive 40
Autosomal Recessive Spastic Paraplegia 48 12

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive spastic paraplegia type 48
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
adult-onset
one patient showed onset in infancy (patient a)
five patients from 4 families have been reported (as of january 2017)


HPO:

32
spastic paraplegia 48, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110800
MeSH 44 D015419
ICD10 33 G11.4
ICD10 via Orphanet 34 G11.4
Orphanet 59 ORPHA306511
MedGen 42 C3150901
UMLS 72 C3150901

Summaries for Spastic Paraplegia 48, Autosomal Recessive

UniProtKB/Swiss-Prot : 74 Spastic paraplegia 48, 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.

MalaCards based summary : Spastic Paraplegia 48, Autosomal Recessive, also known as spg48, is related to mast syndrome and spastic paraplegia 54, autosomal recessive, and has symptoms including ataxia An important gene associated with Spastic Paraplegia 48, Autosomal Recessive is AP5Z1 (Adaptor Related Protein Complex 5 Subunit Zeta 1). Related phenotypes are progressive spastic paraplegia and hypoplasia of the corpus callosum

Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the AP5Z1 gene on chromosome 7p22.1.

OMIM : 57 Spastic paraplegia-48 is an autosomal recessive neurologic disorder characterized by spasticity of the lower limbs resulting in gait difficulties. Most patients have onset in mid- or late-adulthood, although childhood onset has been reported in 1 patient. Additional features may include parkinsonism, urinary incontinence, neuropathy, and mild cognitive impairment (summary by Hirst et al., 2015). For a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A (270800). (613647)

Related Diseases for Spastic Paraplegia 48, 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 48, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 35)
# Related Disease Score Top Affiliating Genes
1 mast syndrome 30.2 SPG21 SPG11
2 spastic paraplegia 54, autosomal recessive 29.9 DDHD2 AP5Z1
3 spastic paraplegia 11, autosomal recessive 29.6 SPG21 SPG11
4 spastic paraplegia 15, autosomal recessive 28.2 ZFYVE26 SPG21 SPG11 DDHD2 AP5Z1
5 paraplegia 27.6 ZFYVE26 SPG21 SPG11 ERLIN2 DDHD2 AP5Z1
6 hereditary spastic paraplegia 27.5 ZFYVE26 SPG21 SPG11 ERLIN2 DDHD2 AP5Z1
7 spastic paraplegia 15 10.2
8 spastic paraplegia 44, autosomal recessive 10.2 SPG21 AP5Z1
9 ataxia and polyneuropathy, adult-onset 10.1
10 dystonia 10.1
11 axonal neuropathy 10.1
12 spastic paraplegia 11 10.1
13 spastic paraparesis 10.1
14 myoclonus 10.1
15 spastic paraplegia 47, autosomal recessive 10.1 ERLIN2 AP5Z1
16 spastic paraplegia 32, autosomal recessive 10.1 SPG21 SPG11
17 spastic paraplegia 31, autosomal dominant 10.1 SPG11 AP5Z1
18 amyotrophic lateral sclerosis type 5 10.0 SPG21 SPG11
19 spastic paraplegia 46, autosomal recessive 10.0 SPG21 SPG11
20 spastic paraplegia 42, autosomal dominant 10.0 ERLIN2 AP5Z1
21 spastic paraplegia 13, autosomal dominant 10.0 ERLIN2 AP5Z1
22 spastic paraplegia 12, autosomal dominant 9.9 ERLIN2 AP5Z1
23 spastic paraplegia 10, autosomal dominant 9.9 SPG11 AP5Z1
24 spastic paraplegia 49, autosomal recessive 9.9 ZFYVE26 SPG11
25 spastic paraplegia 6, autosomal dominant 9.9 ERLIN2 AP5Z1
26 masa syndrome 9.9 SPG11 AP5Z1
27 spastic paraplegia 28, autosomal recessive 9.8 DDHD2 AP5Z1
28 spastic paraplegia 56, autosomal recessive 9.8 DDHD2 AP5Z1
29 spastic paraplegia 39, autosomal recessive 9.7 ZFYVE26 ERLIN2 AP5Z1
30 charcot-marie-tooth disease, axonal, type 2e 9.6 ZFYVE26 SPG21 SPG11
31 spastic paraplegia 18, autosomal recessive 9.6 SPG21 ERLIN2 AP5Z1
32 spastic paraplegia 30, autosomal recessive 9.6 SPG21 ERLIN2 AP5Z1
33 spastic paraplegia 8, autosomal dominant 9.6 SPG11 ERLIN2 AP5Z1
34 spastic paraplegia 4, autosomal dominant 9.6 SPG11 ERLIN2
35 spastic paraplegia 35, autosomal recessive 7.9 ZFYVE26 SPG21 SPG11 ERLIN2 DDHD2 AP5Z1

Graphical network of the top 20 diseases related to Spastic Paraplegia 48, Autosomal Recessive:



Diseases related to Spastic Paraplegia 48, Autosomal Recessive

Symptoms & Phenotypes for Spastic Paraplegia 48, Autosomal Recessive

Human phenotypes related to Spastic Paraplegia 48, Autosomal Recessive:

59 32 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 progressive spastic paraplegia 59 32 hallmark (90%) Very frequent (99-80%) HP:0007020
2 hypoplasia of the corpus callosum 59 32 hallmark (90%) Very frequent (99-80%) HP:0002079
3 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
4 ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0001251
5 hyperreflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001347
6 cognitive impairment 59 32 frequent (33%) Frequent (79-30%) HP:0100543
7 myoclonus 59 32 frequent (33%) Frequent (79-30%) HP:0001336
8 urinary bladder sphincter dysfunction 59 32 frequent (33%) Frequent (79-30%) HP:0002839
9 hyperintensity of cerebral white matter on mri 59 32 frequent (33%) Frequent (79-30%) HP:0030890
10 lower limb muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0007340
11 spastic gait 59 32 frequent (33%) Frequent (79-30%) HP:0002064
12 urinary incontinence 59 32 frequent (33%) Frequent (79-30%) HP:0000020
13 abnormality of the cervical spine 59 32 frequent (33%) Frequent (79-30%) HP:0003319
14 elevated serum creatine kinase 32 frequent (33%) HP:0003236
15 retinopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000488
16 peripheral neuropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0009830
17 parkinsonism 59 32 occasional (7.5%) Occasional (29-5%) HP:0001300
18 broad-based gait 59 32 occasional (7.5%) Occasional (29-5%) HP:0002136
19 lower limb spasticity 59 32 Frequent (79-30%) HP:0002061
20 global developmental delay 32 HP:0001263
21 elevated serum creatine phosphokinase 59 Frequent (79-30%)
22 dysmetria 32 HP:0001310
23 mental deterioration 32 HP:0001268
24 spastic paraplegia 32 HP:0001258
25 abnormality of the periventricular white matter 32 HP:0002518

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
ataxia
dysmetria
lower limb spasticity
spastic gait
parkinsonism
more
Neurologic Peripheral Nervous System:
neuropathy

Genitourinary Bladder:
urinary incontinence

Head And Neck Eyes:
retinopathy (adult onset in 1 patient)

Clinical features from OMIM:

613647

UMLS symptoms related to Spastic Paraplegia 48, Autosomal Recessive:


ataxia

Drugs & Therapeutics for Spastic Paraplegia 48, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 48, Autosomal Recessive

Genetic Tests for Spastic Paraplegia 48, Autosomal Recessive

Genetic tests related to Spastic Paraplegia 48, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Spastic Paraplegia 48, Autosomal Recessive 29 AP5Z1

Anatomical Context for Spastic Paraplegia 48, Autosomal Recessive

Publications for Spastic Paraplegia 48, Autosomal Recessive

Articles related to Spastic Paraplegia 48, Autosomal Recessive:

(show all 12)
# Title Authors PMID Year
1
Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48. 38 8 71
24833714 2014
2
A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia. 38 8 71
20613862 2010
3
Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease. 8 71
26085577 2015
4
Hereditary Spastic Paraplegia Overview 71
20301682 2000
5
A mouse model for SPG48 reveals a block of autophagic flux upon disruption of adaptor protein complex five. 38
30930081 2019
6
Impaired mitochondrial dynamics underlie axonal defects in hereditary spastic paraplegias. 38
29726929 2018
7
Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48). 38
27606357 2016
8
Erratum: Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48). 38
27781213 2016
9
AP5Z1/SPG48 frequency in autosomal recessive and sporadic spastic paraplegia. 38
25333062 2014
10
Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms. 38
23897027 2013
11
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. 38
22554690 2012
12
Genetics of hereditary spastic paraplegias. 38
22266886 2011

Variations for Spastic Paraplegia 48, Autosomal Recessive

ClinVar genetic disease variations for Spastic Paraplegia 48, Autosomal Recessive:

6 (show top 50) (show all 128)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 AP5Z1 NM_014855.3(AP5Z1): c.616C> T (p.Arg206Trp) single nucleotide variant Pathogenic rs761451474 7:4823424-4823424 7:4783793-4783793
2 AP5Z1 NM_014855.3(AP5Z1): c.1732C> T (p.Gln578Ter) single nucleotide variant Pathogenic rs1057519342 7:4829487-4829487 7:4789856-4789856
3 AP5Z1 NM_014855.3(AP5Z1): c.1322G> A (p.Trp441Ter) single nucleotide variant Pathogenic rs373919408 7:4827275-4827275 7:4787644-4787644
4 AP5Z1 NM_014855.3(AP5Z1): c.80_83delinsTGCTGTAAACTGTAACTGTAAA (p.Arg27_Ile28delinsLeuLeuTer) indel Pathogenic rs397704705 7:4820844-4820847 7:4781213-4781216
5 AP5Z1 NM_014855.3(AP5Z1): c.1413_1426del (p.Leu473fs) deletion Pathogenic rs397704709 7:4827366-4827379 7:4787735-4787748
6 AP5Z1 NM_014855.3(AP5Z1): c.1343_1346dup (p.Glu449fs) duplication Pathogenic 7:4827296-4827299 7:4787665-4787668
7 AP5Z1 NM_014855.3(AP5Z1): c.210_231del (p.Gln70fs) deletion Pathogenic 7:4821229-4821250 7:4781598-4781619
8 AP5Z1 NM_014855.3(AP5Z1): c.706C> T (p.Gln236Ter) single nucleotide variant Pathogenic 7:4823918-4823918 7:4784287-4784287
9 AP5Z1 NM_014855.3(AP5Z1): c.868del (p.Arg290fs) deletion Pathogenic 7:4824616-4824616 7:4784985-4784985
10 AP5Z1 NM_014855.2(AP5Z1): c.41+812_970del deletion Likely pathogenic 7:4816199-4825153 7:4776568-4785522
11 AP5Z1 NM_014855.3(AP5Z1): c.931+1G> A single nucleotide variant Likely pathogenic 7:4824680-4824680 7:4785049-4785049
12 AP5Z1 NM_014855.3(AP5Z1): c.970-2_983del deletion Likely pathogenic
13 AP5Z1 NM_014855.3(AP5Z1): c.1197G> A (p.Glu399=) single nucleotide variant Conflicting interpretations of pathogenicity rs117666541 7:4825945-4825945 7:4786314-4786314
14 AP5Z1 NM_014855.3(AP5Z1): c.588C> T (p.Ser196=) single nucleotide variant Conflicting interpretations of pathogenicity rs146665638 7:4823396-4823396 7:4783765-4783765
15 AP5Z1 NM_014855.3(AP5Z1): c.481G> A (p.Val161Met) single nucleotide variant Conflicting interpretations of pathogenicity rs191971593 7:4823061-4823061 7:4783430-4783430
16 AP5Z1 NM_014855.3(AP5Z1): c.2400G> A (p.Arg800=) single nucleotide variant Conflicting interpretations of pathogenicity rs368571200 7:4830992-4830992 7:4791361-4791361
17 AP5Z1 NM_014855.3(AP5Z1): c.379G> A (p.Glu127Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs115454162 7:4822959-4822959 7:4783328-4783328
18 AP5Z1 NM_014855.3(AP5Z1): c.881G> A (p.Arg294Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs200957609 7:4824629-4824629 7:4784998-4784998
19 AP5Z1 NM_014855.3(AP5Z1): c.1794C> T (p.Ala598=) single nucleotide variant Conflicting interpretations of pathogenicity rs374673921 7:4829549-4829549 7:4789918-4789918
20 AP5Z1 NM_014855.3(AP5Z1): c.1557A> G (p.Gln519=) single nucleotide variant Conflicting interpretations of pathogenicity rs201687417 7:4827887-4827887 7:4788256-4788256
21 AP5Z1 NM_014855.3(AP5Z1): c.1708-5C> T single nucleotide variant Conflicting interpretations of pathogenicity rs184752711 7:4829458-4829458 7:4789827-4789827
22 AP5Z1 NM_014855.3(AP5Z1): c.780C> A (p.Thr260=) single nucleotide variant Conflicting interpretations of pathogenicity rs377507553 7:4823992-4823992 7:4784361-4784361
23 AP5Z1 NM_014855.3(AP5Z1): c.1919C> T (p.Ala640Val) single nucleotide variant Uncertain significance rs562874262 7:4830203-4830203 7:4790572-4790572
24 AP5Z1 NM_014855.3(AP5Z1): c.1964C> T (p.Ser655Leu) single nucleotide variant Uncertain significance rs61750324 7:4830329-4830329 7:4790698-4790698
25 AP5Z1 NM_014855.3(AP5Z1): c.511+5G> A single nucleotide variant Uncertain significance rs759729051 7:4823096-4823096 7:4783465-4783465
26 AP5Z1 NM_014855.3(AP5Z1): c.1334C> T (p.Pro445Leu) single nucleotide variant Uncertain significance rs566333309 7:4827287-4827287 7:4787656-4787656
27 AP5Z1 NM_014855.3(AP5Z1): c.1724T> G (p.Leu575Arg) single nucleotide variant Uncertain significance rs562425834 7:4829479-4829479 7:4789848-4789848
28 AP5Z1 NM_014855.3(AP5Z1): c.584A> G (p.His195Arg) single nucleotide variant Uncertain significance rs117659667 7:4823392-4823392 7:4783761-4783761
29 AP5Z1 NM_014855.3(AP5Z1): c.313C> T (p.His105Tyr) single nucleotide variant Uncertain significance rs200490093 7:4821332-4821332 7:4781701-4781701
30 AP5Z1 NM_014855.3(AP5Z1): c.329G> A (p.Arg110Gln) single nucleotide variant Uncertain significance rs201481802 7:4821348-4821348 7:4781717-4781717
31 AP5Z1 NM_014855.3(AP5Z1): c.691C> T (p.Arg231Cys) single nucleotide variant Uncertain significance rs774832344 7:4823903-4823903 7:4784272-4784272
32 AP5Z1 NM_014855.3(AP5Z1): c.1003C> G (p.Leu335Val) single nucleotide variant Uncertain significance rs199930373 7:4825186-4825186 7:4785555-4785555
33 AP5Z1 NM_014855.3(AP5Z1): c.1009C> T (p.Arg337Trp) single nucleotide variant Uncertain significance rs367981328 7:4825192-4825192 7:4785561-4785561
34 AP5Z1 NM_014855.3(AP5Z1): c.1267G> A (p.Gly423Arg) single nucleotide variant Uncertain significance rs376329631 7:4826015-4826015 7:4786384-4786384
35 AP5Z1 NM_014855.3(AP5Z1): c.1585G> A (p.Ala529Thr) single nucleotide variant Uncertain significance rs535174478 7:4827915-4827915 7:4788284-4788284
36 AP5Z1 NM_014855.3(AP5Z1): c.2060C> G (p.Ser687Cys) single nucleotide variant Uncertain significance rs201478168 7:4830425-4830425 7:4790794-4790794
37 AP5Z1 NM_014855.3(AP5Z1): c.412C> T (p.Arg138Ter) single nucleotide variant Uncertain significance rs778457903 7:4822992-4822992 7:4783361-4783361
38 AP5Z1 NM_014855.3(AP5Z1): c.1463C> T (p.Pro488Leu) single nucleotide variant Uncertain significance rs372654170 7:4827793-4827793 7:4788162-4788162
39 AP5Z1 NC_000007.13: g.(?_4827785)_(4834026_?)del deletion Uncertain significance 7:4827785-4834026 7:4788154-4794395
40 AP5Z1 NM_014855.3(AP5Z1): c.1573A> C (p.Lys525Gln) single nucleotide variant Uncertain significance rs186003800 7:4827903-4827903 7:4788272-4788272
41 AP5Z1 NM_014855.3(AP5Z1): c.868C> T (p.Arg290Trp) single nucleotide variant Uncertain significance rs768595771 7:4824616-4824616 7:4784985-4784985
42 AP5Z1 NM_014855.3(AP5Z1): c.2387G> A (p.Arg796Gln) single nucleotide variant Uncertain significance rs199981070 7:4830979-4830979 7:4791348-4791348
43 AP5Z1 NM_014855.3(AP5Z1): c.1528C> T (p.Arg510Trp) single nucleotide variant Uncertain significance rs374146548 7:4827858-4827858 7:4788227-4788227
44 AP5Z1 NM_014855.3(AP5Z1): c.2287G> A (p.Val763Met) single nucleotide variant Uncertain significance rs147369435 7:4830879-4830879 7:4791248-4791248
45 AP5Z1 NM_014855.3(AP5Z1): c.127G> A (p.Asp43Asn) single nucleotide variant Uncertain significance rs370859268 7:4820891-4820891 7:4781260-4781260
46 AP5Z1 NM_014855.3(AP5Z1): c.1595+4C> T single nucleotide variant Uncertain significance rs141607676 7:4827929-4827929 7:4788298-4788298
47 AP5Z1 NM_014855.3(AP5Z1): c.272G> A (p.Arg91Gln) single nucleotide variant Uncertain significance rs750211507 7:4821291-4821291 7:4781660-4781660
48 AP5Z1 NM_014855.3(AP5Z1): c.838A> C (p.Thr280Pro) single nucleotide variant Uncertain significance rs554060393 7:4824586-4824586 7:4784955-4784955
49 AP5Z1 NM_014855.3(AP5Z1): c.740G> A (p.Arg247Gln) single nucleotide variant Uncertain significance rs774068163 7:4823952-4823952 7:4784321-4784321
50 AP5Z1 NM_014855.3(AP5Z1): c.2131C> G (p.Arg711Gly) single nucleotide variant Uncertain significance rs113184057 7:4830496-4830496 7:4790865-4790865

Expression for Spastic Paraplegia 48, Autosomal Recessive

Search GEO for disease gene expression data for Spastic Paraplegia 48, Autosomal Recessive.

Pathways for Spastic Paraplegia 48, Autosomal Recessive

GO Terms for Spastic Paraplegia 48, Autosomal Recessive

Biological processes related to Spastic Paraplegia 48, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 double-strand break repair via homologous recombination GO:0000724 8.62 ZFYVE26 AP5Z1

Sources for Spastic Paraplegia 48, Autosomal Recessive

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