SPG48
MCID: SPS071
MIFTS: 43

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 56 73 29 13 6 71
Spg48 56 12 58 73
Autosomal Recessive Spastic Paraplegia Type 48 12 58
Hereditary Spastic Paraplegia 48 12 15
Paraplegia, Spastic, Type 48, Autosomal Recessive 39
Autosomal Recessive Spastic Paraplegia 48 12

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive spastic paraplegia type 48
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

56
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:

31
spastic paraplegia 48, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Spastic Paraplegia 48, Autosomal Recessive

UniProtKB/Swiss-Prot : 73 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 spastic paraplegia 11, autosomal recessive and mast syndrome, 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). Affiliated tissues include eye, bone and brain, and related phenotypes are hypoplasia of the corpus callosum and progressive spastic paraplegia

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

OMIM : 56 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 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 48, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 75)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 11, autosomal recessive 30.6 ZFYVE26 SPG21 SPG11
2 mast syndrome 30.2 SPG21 SPG11
3 axonal neuropathy 30.1 ZFYVE26 SPG11 ATL1
4 spastic paraparesis 30.0 SPG11 SPAST FA2H
5 spastic paraplegia 54, autosomal recessive 29.0 SPG21 SPG11 REEP1 FA2H DDHD2 AP5Z1
6 spastic paraplegia 15, autosomal recessive 27.3 ZFYVE26 WASHC5 SPG21 SPG11 SPAST REEP1
7 paraplegia 26.3 ZFYVE26 WASHC5 SPG21 SPG11 SPAST RTN2
8 hereditary spastic paraplegia 25.6 ZFYVE26 WASHC5 SPG21 SPG11 SPAST RTN2
9 spinocerebellar ataxia, autosomal recessive 20 10.3 ZFYVE26 SPG11
10 spastic paraplegia 15 10.2
11 complex hereditary spastic paraplegia 10.2 SPG11 DDHD2
12 spastic paraplegia 64, autosomal recessive 10.2 SPG21 SPG11
13 charcot-marie-tooth disease, axonal, type 2r 10.2 ZFYVE26 SPG21
14 spastic paraplegia 63, autosomal recessive 10.2 SPG21 SPG11
15 spastic paraplegia 32, autosomal recessive 10.2 ZFYVE26 SPG21 SPG11
16 spastic paraplegia 45, autosomal recessive 10.1 SPG21 DDHD2
17 spastic paraplegia 77, autosomal recessive 10.1 ZFYVE26 SPG11 FA2H
18 spastic paraplegia 55, autosomal recessive 10.1 ZFYVE26 SPG21 SPG11
19 ataxia and polyneuropathy, adult-onset 10.1
20 dystonia 10.1
21 spastic paraplegia 11 10.1
22 myoclonus 10.1
23 spastic paraplegia 34, x-linked 10.1 ZFYVE26 WASHC5 SPG21
24 spastic paraplegia 29, autosomal dominant 10.1 ZFYVE26 WASHC5 SPG21
25 spastic paraplegia 37, autosomal dominant 10.1 ZFYVE26 WASHC5 SPG21
26 spastic paraplegia 25, autosomal recessive 10.1 ZFYVE26 WASHC5 SPG21
27 spastic paraplegia 19, autosomal dominant 10.1 ZFYVE26 WASHC5 SPG21
28 charcot-marie-tooth disease, axonal, type 2t 10.1 ZFYVE26 SPG21 FA2H
29 spastic paraplegia 41, autosomal dominant 10.1 SPG21 SPAST
30 sjogren-larsson syndrome 10.0 FA2H DDHD2
31 hereditary spastic paraplegia 23 9.9 ZFYVE26 WASHC5 SPG21 SPG11
32 spastic paraplegia 49, autosomal recessive 9.9 ZFYVE26 SPG21 SPG11 DDHD2
33 spastic paraplegia 53, autosomal recessive 9.9 RTN2 ATL1 AP5Z1
34 hereditary spastic paraplegia 51 9.8 ZFYVE26 SPG11 RTN2 AP5Z1
35 amyotrophic lateral sclerosis type 5 9.8 ZFYVE26 SPG11 SPAST AP5Z1
36 parkinson disease 15, autosomal recessive early-onset 9.8 SPG11 FA2H
37 spastic paraplegia 5a, autosomal recessive 9.8 ZFYVE26 SPG11 SPAST FA2H
38 spastic paraplegia 56, autosomal recessive 9.7 SPG21 SPG11 FA2H DDHD2 AP5Z1
39 spastic paraplegia 52, autosomal recessive 9.6 ZFYVE26 SPG21 SPG11 RTN2 AP5Z1
40 neurodegeneration with brain iron accumulation 4 9.6 FA2H ERLIN2
41 spastic paraplegia 28, autosomal recessive 9.6 SPG11 REEP1 FA2H DDHD2
42 spasticity 9.6 WASHC5 SPAST REEP1
43 autosomal dominant non-syndromic intellectual disability 9 9.6 ZFYVE26 RTN2 REEP1 AP5Z1
44 spastic paraplegia 16, x-linked 9.6 ZFYVE26 WASHC5 SPG21 SPG11 SPAST
45 spastic paraplegia 46, autosomal recessive 9.5 ZFYVE26 SPG21 SPG11 FA2H DDHD2 AP5Z1
46 spastic paraplegia 20, autosomal recessive 9.5 ZFYVE26 SPG21 SPG11 SPAST ATL1
47 charcot-marie-tooth disease, axonal, type 2e 9.5 ZFYVE26 SPG21 SPG11 SPAST FA2H
48 spastic paraplegia 57, autosomal recessive 9.5 SPG11 REEP1 ERLIN2
49 spastic paraplegia 14, autosomal recessive 9.4 ZFYVE26 WASHC5 SPG21 SPG11 SPAST FA2H
50 spastic paraplegia 44, autosomal recessive 9.3 ZFYVE26 WASHC5 SPG21 ERLIN2 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:

58 31 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypoplasia of the corpus callosum 58 31 hallmark (90%) Very frequent (99-80%) HP:0002079
2 progressive spastic paraplegia 58 31 hallmark (90%) Very frequent (99-80%) HP:0007020
3 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
4 hyperreflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001347
5 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
6 cognitive impairment 58 31 frequent (33%) Frequent (79-30%) HP:0100543
7 myoclonus 58 31 frequent (33%) Frequent (79-30%) HP:0001336
8 urinary bladder sphincter dysfunction 58 31 frequent (33%) Frequent (79-30%) HP:0002839
9 hyperintensity of cerebral white matter on mri 58 31 frequent (33%) Frequent (79-30%) HP:0030890
10 lower limb muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0007340
11 spastic gait 58 31 frequent (33%) Frequent (79-30%) HP:0002064
12 urinary incontinence 58 31 frequent (33%) Frequent (79-30%) HP:0000020
13 abnormality of the cervical spine 58 31 frequent (33%) Frequent (79-30%) HP:0003319
14 elevated serum creatine kinase 31 frequent (33%) HP:0003236
15 retinopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000488
16 peripheral neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0009830
17 parkinsonism 58 31 occasional (7.5%) Occasional (29-5%) HP:0001300
18 broad-based gait 58 31 occasional (7.5%) Occasional (29-5%) HP:0002136
19 lower limb spasticity 58 31 Frequent (79-30%) HP:0002061
20 global developmental delay 31 HP:0001263
21 elevated serum creatine phosphokinase 58 Frequent (79-30%)
22 dysmetria 31 HP:0001310
23 mental deterioration 31 HP:0001268
24 spastic paraplegia 31 HP:0001258
25 abnormality of the periventricular white matter 31 HP:0002518

Symptoms via clinical synopsis from OMIM:

56
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

MalaCards organs/tissues related to Spastic Paraplegia 48, Autosomal Recessive:

40
Eye, Bone, Brain, Skin

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. 61 56 6
24833714 2014
2
A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia. 61 56 6
20613862 2010
3
Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease. 56 6
26085577 2015
4
Hereditary Spastic Paraplegia Overview 6
20301682 2000
5
A mouse model for SPG48 reveals a block of autophagic flux upon disruption of adaptor protein complex five. 61
30930081 2019
6
Impaired mitochondrial dynamics underlie axonal defects in hereditary spastic paraplegias. 61
29726929 2018
7
Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48). 61
27606357 2016
8
Erratum: Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48). 61
27781213 2016
9
AP5Z1/SPG48 frequency in autosomal recessive and sporadic spastic paraplegia. 61
25333062 2014
10
Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms. 61
23897027 2013
11
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. 61
22554690 2012
12
Genetics of hereditary spastic paraplegias. 61
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 101) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 AP5Z1 NM_014855.3(AP5Z1):c.80_83delinsTGCTGTAAACTGTAACTGTAAA (p.Arg27_Ile28delinsLeuLeuTer)indel Pathogenic 2 rs397704705 7:4820844-4820847 7:4781213-4781216
2 AP5Z1 NM_014855.3(AP5Z1):c.1413_1426del (p.Leu473fs)deletion Pathogenic 3 rs397704709 7:4827361-4827374 7:4787730-4787743
3 AP5Z1 NM_014855.3(AP5Z1):c.616C>T (p.Arg206Trp)SNV Pathogenic 375315 rs761451474 7:4823424-4823424 7:4783793-4783793
4 AP5Z1 NM_014855.3(AP5Z1):c.1732C>T (p.Gln578Ter)SNV Pathogenic 375316 rs1057519342 7:4829487-4829487 7:4789856-4789856
5 AP5Z1 NM_014855.3(AP5Z1):c.1322G>A (p.Trp441Ter)SNV Pathogenic 375313 rs373919408 7:4827275-4827275 7:4787644-4787644
6 AP5Z1 NM_014855.3(AP5Z1):c.210_231del (p.Gln70fs)deletion Pathogenic 567257 rs1562404571 7:4821224-4821245 7:4781593-4781614
7 AP5Z1 NM_014855.3(AP5Z1):c.1343_1346dup (p.Glu449fs)duplication Pathogenic 590776 rs1562410566 7:4827295-4827296 7:4787664-4787665
8 AP5Z1 NM_014855.3(AP5Z1):c.706C>T (p.Gln236Ter)SNV Pathogenic 578441 rs988434253 7:4823918-4823918 7:4784287-4784287
9 AP5Z1 NM_014855.3(AP5Z1):c.868del (p.Arg290fs)deletion Pathogenic 566755 rs756556933 7:4824613-4824613 7:4784982-4784982
10 AP5Z1 NM_014855.3(AP5Z1):c.931+1G>ASNV Likely pathogenic 646210 7:4824680-4824680 7:4785049-4785049
11 AP5Z1 NM_014855.2(AP5Z1):c.41+812_970deldeletion Likely pathogenic 579773 7:4816199-4825153 7:4776568-4785522
12 AP5Z1 NM_014855.3(AP5Z1):c.970-2_983deldeletion Likely pathogenic 650737 7:4825149-4825164 7:4785518-4785533
13 AP5Z1 NM_014855.3(AP5Z1):c.1708-5C>TSNV Conflicting interpretations of pathogenicity 360335 rs184752711 7:4829458-4829458 7:4789827-4789827
14 AP5Z1 NM_014855.3(AP5Z1):c.1197G>A (p.Glu399=)SNV Conflicting interpretations of pathogenicity 128410 rs117666541 7:4825945-4825945 7:4786314-4786314
15 AP5Z1 NM_014855.3(AP5Z1):c.329G>A (p.Arg110Gln)SNV Uncertain significance 240942 rs201481802 7:4821348-4821348 7:4781717-4781717
16 AP5Z1 NM_014855.3(AP5Z1):c.1003C>G (p.Leu335Val)SNV Uncertain significance 240931 rs199930373 7:4825186-4825186 7:4785555-4785555
17 AP5Z1 NM_014855.3(AP5Z1):c.1009C>T (p.Arg337Trp)SNV Uncertain significance 240932 rs367981328 7:4825192-4825192 7:4785561-4785561
18 AP5Z1 NM_014855.3(AP5Z1):c.1267G>A (p.Gly423Arg)SNV Uncertain significance 240933 rs376329631 7:4826015-4826015 7:4786384-4786384
19 AP5Z1 NM_014855.3(AP5Z1):c.313C>T (p.His105Tyr)SNV Uncertain significance 360306 rs200490093 7:4821332-4821332 7:4781701-4781701
20 AP5Z1 NM_014855.3(AP5Z1):c.1334C>T (p.Pro445Leu)SNV Uncertain significance 360326 rs566333309 7:4827287-4827287 7:4787656-4787656
21 AP5Z1 NM_014855.3(AP5Z1):c.1724T>G (p.Leu575Arg)SNV Uncertain significance 360336 rs562425834 7:4829479-4829479 7:4789848-4789848
22 AP5Z1 NM_014855.3(AP5Z1):c.1585G>A (p.Ala529Thr)SNV Uncertain significance 240937 rs535174478 7:4827915-4827915 7:4788284-4788284
23 AP5Z1 NM_014855.3(AP5Z1):c.2060C>G (p.Ser687Cys)SNV Uncertain significance 240938 rs201478168 7:4830425-4830425 7:4790794-4790794
24 AP5Z1 NC_000007.13:g.(?_4827785)_(4834026_?)deldeletion Uncertain significance 417576 7:4827785-4834026 7:4788154-4794395
25 AP5Z1 NM_014855.3(AP5Z1):c.1573A>C (p.Lys525Gln)SNV Uncertain significance 412233 rs186003800 7:4827903-4827903 7:4788272-4788272
26 AP5Z1 NM_014855.3(AP5Z1):c.868C>T (p.Arg290Trp)SNV Uncertain significance 412231 rs768595771 7:4824616-4824616 7:4784985-4784985
27 AP5Z1 NM_014855.3(AP5Z1):c.1463C>T (p.Pro488Leu)SNV Uncertain significance 412228 rs372654170 7:4827793-4827793 7:4788162-4788162
28 AP5Z1 NM_014855.3(AP5Z1):c.2387G>A (p.Arg796Gln)SNV Uncertain significance 412234 rs199981070 7:4830979-4830979 7:4791348-4791348
29 AP5Z1 NM_014855.3(AP5Z1):c.1528C>T (p.Arg510Trp)SNV Uncertain significance 412230 rs374146548 7:4827858-4827858 7:4788227-4788227
30 AP5Z1 NM_014855.3(AP5Z1):c.2287G>A (p.Val763Met)SNV Uncertain significance 412232 rs147369435 7:4830879-4830879 7:4791248-4791248
31 AP5Z1 NM_014855.3(AP5Z1):c.127G>A (p.Asp43Asn)SNV Uncertain significance 412235 rs370859268 7:4820891-4820891 7:4781260-4781260
32 AP5Z1 NM_014855.3(AP5Z1):c.1595+4C>TSNV Uncertain significance 412229 rs141607676 7:4827929-4827929 7:4788298-4788298
33 AP5Z1 NM_014855.3(AP5Z1):c.272G>A (p.Arg91Gln)SNV Uncertain significance 424695 rs750211507 7:4821291-4821291 7:4781660-4781660
34 AP5Z1 NM_014855.3(AP5Z1):c.838A>C (p.Thr280Pro)SNV Uncertain significance 424671 rs554060393 7:4824586-4824586 7:4784955-4784955
35 AP5Z1 NM_014855.3(AP5Z1):c.740G>A (p.Arg247Gln)SNV Uncertain significance 487226 rs774068163 7:4823952-4823952 7:4784321-4784321
36 AP5Z1 NM_014855.3(AP5Z1):c.2131C>G (p.Arg711Gly)SNV Uncertain significance 478623 rs113184057 7:4830496-4830496 7:4790865-4790865
37 AP5Z1 NM_014855.3(AP5Z1):c.1015dup (p.Asp339fs)duplication Uncertain significance 632069 rs1562408333 7:4825196-4825197 7:4785565-4785566
38 AP5Z1 NM_014855.3(AP5Z1):c.2102T>C (p.Leu701Pro)SNV Uncertain significance 632004 rs1317738698 7:4830467-4830467 7:4790836-4790836
39 AP5Z1 NM_014855.3(AP5Z1):c.352G>A (p.Val118Ile)SNV Uncertain significance 645155 7:4821371-4821371 7:4781740-4781740
40 AP5Z1 NM_014855.3(AP5Z1):c.602C>T (p.Ser201Phe)SNV Uncertain significance 665688 7:4823410-4823410 7:4783779-4783779
41 AP5Z1 NM_014855.3(AP5Z1):c.617G>A (p.Arg206Gln)SNV Uncertain significance 665091 7:4823425-4823425 7:4783794-4783794
42 AP5Z1 NM_014855.3(AP5Z1):c.696C>A (p.Phe232Leu)SNV Uncertain significance 661159 7:4823908-4823908 7:4784277-4784277
43 AP5Z1 NM_014855.3(AP5Z1):c.701A>T (p.Asp234Val)SNV Uncertain significance 658430 7:4823913-4823913 7:4784282-4784282
44 AP5Z1 NM_014855.3(AP5Z1):c.838A>G (p.Thr280Ala)SNV Uncertain significance 652827 7:4824586-4824586 7:4784955-4784955
45 AP5Z1 NM_014855.3(AP5Z1):c.841T>A (p.Ser281Thr)SNV Uncertain significance 646623 7:4824589-4824589 7:4784958-4784958
46 AP5Z1 NM_014855.3(AP5Z1):c.972C>G (p.Cys324Trp)SNV Uncertain significance 649211 7:4825155-4825155 7:4785524-4785524
47 AP5Z1 NM_014855.3(AP5Z1):c.1010G>A (p.Arg337Gln)SNV Uncertain significance 639973 7:4825193-4825193 7:4785562-4785562
48 AP5Z1 NM_014855.3(AP5Z1):c.1072C>T (p.Arg358Cys)SNV Uncertain significance 638840 7:4825255-4825255 7:4785624-4785624
49 AP5Z1 NM_014855.3(AP5Z1):c.1132G>A (p.Gly378Arg)SNV Uncertain significance 652848 7:4825315-4825315 7:4785684-4785684
50 AP5Z1 NM_014855.3(AP5Z1):c.1197_1198delinsAG (p.Gln400Glu)indel Uncertain significance 640204 7:4825945-4825946 7:4786314-4786315

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

Cellular components related to Spastic Paraplegia 48, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 9.73 SPAST RTN2 REEP1 FA2H ERLIN2 ATL1
2 endosome GO:0005768 9.72 WASHC5 SPG21 SPAST AP5S1 AP5M1
3 endoplasmic reticulum GO:0005783 9.7 WASHC5 SPAST RTN2 REEP1 FA2H ERLIN2
4 endoplasmic reticulum tubular network GO:0071782 9.37 REEP1 ATL1
5 lysosomal membrane GO:0005765 9.35 ZFYVE26 SPG11 AP5S1 AP5M1 AP5B1
6 AP-type membrane coat adaptor complex GO:0030119 8.92 AP5Z1 AP5S1 AP5M1 AP5B1

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

# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.55 WASHC5 AP5Z1 AP5S1 AP5M1 AP5B1
2 double-strand break repair via homologous recombination GO:0000724 9.13 ZFYVE26 AP5Z1 AP5S1
3 endosomal transport GO:0016197 9.02 WASHC5 AP5Z1 AP5S1 AP5M1 AP5B1

Sources for Spastic Paraplegia 48, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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