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 mast syndrome and spastic paraplegia 11, 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 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 Dominant
Spastic Paraplegia 18, Autosomal Recessive Spastic Paraplegia 32, Autosomal Recessive
Spastic Paraplegia 37, Autosomal Dominant Spastic Paraplegia 39, Autosomal Recessive
Spastic Paraplegia 35, Autosomal Recessive Spastic Paraplegia 38, Autosomal Dominant
Spastic Paraplegia 42, Autosomal Dominant Spastic Paraplegia 50, Autosomal Recessive
Spastic Paraplegia 36, Autosomal Dominant Spastic Paraplegia 45, Autosomal Recessive
Spastic Paraplegia 44, Autosomal Recessive Spastic Paraplegia 41, Autosomal Dominant
Spastic Paraplegia 48, Autosomal Recessive Spastic Paraplegia 51, Autosomal Recessive
Spastic Paraplegia 47, Autosomal Recessive Spastic Paraplegia 52, Autosomal Recessive
Spastic Paraplegia 46, Autosomal Recessive Spastic Paraplegia 53, Autosomal Recessive
Spastic Paraplegia 56, Autosomal Recessive Spastic Paraplegia 49, Autosomal Recessive
Spastic Paraplegia 54, Autosomal Recessive Spastic Paraplegia 55, Autosomal Recessive
Spastic Paraplegia 43, Autosomal Recessive Spastic Paraplegia 79, Autosomal Recessive
Spastic Paraplegia 72, Autosomal Recessive Spastic Paraplegia 57, Autosomal Recessive
Spastic Paraplegia 62, Autosomal Recessive Spastic Paraplegia 64, Autosomal Recessive
Spastic Paraplegia 61, Autosomal Recessive Spastic Paraplegia 63, Autosomal Recessive
Spastic Paraplegia 73, Autosomal Dominant Spastic Paraplegia 74, Autosomal Recessive
Spastic Paraplegia 9b, Autosomal Recessive Spastic Paraplegia 75, Autosomal Recessive
Spastic Paraplegia 76, Autosomal Recessive Spastic Paraplegia 77, Autosomal Recessive
Spastic Paraplegia 78, Autosomal Recessive Spastic Paraplegia 80, Autosomal Dominant
Spastic Paraplegia 81, Autosomal Recessive Spastic Paraplegia 82, Autosomal Recessive
Hereditary Spastic Paraplegia 23 Hereditary Spastic Paraplegia 30
Hereditary Spastic Paraplegia 51 Hereditary Spastic Paraplegia 72
Hereditary Spastic Paraplegia Spastic Paraplegia 4
Spastic Paraplegia 8 Spastic Paraplegia 11
Spastic Paraplegia 10 Spastic Paraplegia 12
Spastic Paraplegia 13 Spastic Paraplegia 14
Spastic Paraplegia 15 Spastic Paraplegia 16
Spastic Paraplegia 17 Spastic Paraplegia 18
Spastic Paraplegia 19 Spastic Paraplegia 24
Spastic Paraplegia 25 Spastic Paraplegia 26
Spastic Paraplegia 29 Spastic Paraplegia 3
Spastic Paraplegia 32 Spastic Paraplegia 39
Spastic Paraplegia 47 Spastic Paraplegia 5a
Spastic Paraplegia 5b Spastic Paraplegia 6
Spastic Paraplegia 9 Spastic Paraplegia Type 49
Autosomal Recessive Spastic Paraplegia Type 60 Autosomal Recessive Spastic Paraplegia Type 59
Autosomal Recessive Spastic Paraplegia Type 69 Autosomal Recessive Spastic Paraplegia Type 70
Autosomal Recessive Spastic Paraplegia Type 71 Autosomal Recessive Spastic Paraplegia Type 66
Autosomal Recessive Spastic Paraplegia Type 67 Autosomal Dominant Spastic Paraplegia Type 9b

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

(show top 50) (show all 86)
# Related Disease Score Top Affiliating Genes
1 mast syndrome 30.4 SPG21 SPG11
2 spastic paraplegia 11, autosomal recessive 30.2 SPG21 SPG11 SPAST AP5Z1
3 spastic paraparesis 30.0 SPG11 SPAST FA2H
4 spastic paraplegia 54, autosomal recessive 28.8 SPG21 SPG11 REEP1 FA2H DDHD2 CYP2U1
5 spastic paraplegia 15, autosomal recessive 27.4 ZFYVE26 WASHC5 SPG21 SPG11 SPAST REEP1
6 paraplegia 25.6 ZFYVE26 WASHC5 SPG21 SPG11 SPAST RTN2
7 hereditary spastic paraplegia 24.9 ZFYVE26 WASHC5 SPG21 SPG11 SPAST RTN2
8 complex hereditary spastic paraplegia 10.3 SPG11 DDHD2
9 spastic paraplegia 64, autosomal recessive 10.3 SPG21 SPG11
10 spastic paraplegia 15 10.3
11 amyotrophic lateral sclerosis type 5 10.2 ZFYVE26 SPG11 AP5Z1
12 spastic paraplegia, optic atrophy, and neuropathy 10.2 WASHC5 AP5Z1
13 spastic paraplegia 29, autosomal dominant 10.2 ZFYVE26 WASHC5 SPG21
14 spastic paraplegia 25, autosomal recessive 10.2 ZFYVE26 WASHC5 SPG21
15 spastic paraplegia 27, autosomal recessive 10.2 SPG21 REEP1
16 spastic paraplegia 19, autosomal dominant 10.2 ZFYVE26 WASHC5 SPG21
17 spastic paraplegia 34, x-linked 10.2 ZFYVE26 WASHC5 SPG21
18 spastic paraplegia 41, autosomal dominant 10.2 SPG21 SPAST
19 ataxia and polyneuropathy, adult-onset 10.1
20 dystonia 10.1
21 axonal neuropathy 10.1
22 spastic paraplegia 11 10.1
23 myoclonus 10.1
24 charcot-marie-tooth disease, recessive intermediate d 10.1 SPG21 CYP2U1
25 charcot-marie-tooth disease, axonal, type 2h 10.1 SPG21 CYP2U1
26 motor peripheral neuropathy 10.1 ZFYVE26 SPG11 REEP1
27 charcot-marie-tooth disease type 2a2a 10.1 SPG21 CYP2U1
28 neurodegeneration with brain iron accumulation 5 10.1 ZFYVE26 SPG11 FA2H
29 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 10.1 RTN2 AP5Z1
30 spastic paraplegia 5a, autosomal recessive 10.1 ZFYVE26 SPG11 SPAST
31 hereditary spastic paraplegia 23 10.0 ZFYVE26 WASHC5 SPG21 SPG11
32 charcot-marie-tooth disease, axonal, type 2r 10.0 ZFYVE26 SPG21 CYP2U1
33 lenz-majewski hyperostotic dwarfism 10.0 DDHD2 CYP2U1
34 charcot-marie-tooth disease, axonal, type 2t 10.0 ZFYVE26 SPG21 CYP2U1
35 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 10.0 DDHD2 CYP2U1
36 spastic paraplegia 63, autosomal recessive 9.9 SPG21 SPG11 AP4E1
37 spasticity 9.9 WASHC5 SPAST REEP1
38 spastic paraplegia 55, autosomal recessive 9.8 ZFYVE26 SPG21 SPG11 CYP2U1
39 spastic paraplegia 14, autosomal recessive 9.8 SPG21 SPG11 SPAST ATL1
40 charcot-marie-tooth disease, axonal, type 2b2 9.8 SPG21 CYP2U1
41 neuronopathy, distal hereditary motor, type va 9.8 RTN2 REEP1 ATL1
42 autosomal dominant non-syndromic intellectual disability 9 9.8 ZFYVE26 RTN2 REEP1 AP5Z1
43 parkinson disease 15, autosomal recessive early-onset 9.8 SPG11 FA2H
44 spastic paraplegia 32, autosomal recessive 9.7 WASHC5 SPG21 SPG11 AP4E1
45 spastic paraplegia 45, autosomal recessive 9.7 SPG21 SPG11 DDHD2 AP4E1
46 spastic paraplegia 16, x-linked 9.7 ZFYVE26 WASHC5 SPG21 SPG11 SPAST
47 spastic paraplegia 57, autosomal recessive 9.7 SPG11 REEP1 ERLIN2
48 spastic paraplegia 20, autosomal recessive 9.6 ZFYVE26 SPG21 SPG11 SPAST ATL1
49 neurodegeneration with brain iron accumulation 4 9.6 FA2H ERLIN2
50 charcot-marie-tooth disease 9.5 ZFYVE26 SPG11 SPAST REEP1 ATL1

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 24)
# 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 cognitive impairment 58 31 frequent (33%) Frequent (79-30%) HP:0100543
5 elevated serum creatine kinase 58 31 frequent (33%) Frequent (79-30%) HP:0003236
6 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
7 myoclonus 58 31 frequent (33%) Frequent (79-30%) HP:0001336
8 hyperreflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001347
9 abnormality of the cervical spine 58 31 frequent (33%) Frequent (79-30%) HP:0003319
10 urinary incontinence 58 31 frequent (33%) Frequent (79-30%) HP:0000020
11 spastic gait 58 31 frequent (33%) Frequent (79-30%) HP:0002064
12 urinary bladder sphincter dysfunction 58 31 frequent (33%) Frequent (79-30%) HP:0002839
13 lower limb muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0007340
14 hyperintensity of cerebral white matter on mri 58 31 frequent (33%) Frequent (79-30%) HP:0030890
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 broad-based gait 58 31 occasional (7.5%) Occasional (29-5%) HP:0002136
18 parkinsonism 58 31 occasional (7.5%) Occasional (29-5%) HP:0001300
19 lower limb spasticity 58 31 Frequent (79-30%) HP:0002061
20 global developmental delay 31 HP:0001263
21 dysmetria 31 HP:0001310
22 mental deterioration 31 HP:0001268
23 spastic paraplegia 31 HP:0001258
24 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

MGI Mouse Phenotypes related to Spastic Paraplegia 48, Autosomal Recessive:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.32 AP4E1 ATL1 CYP2U1 DDHD2 FA2H REEP1

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. 61 6 56
24833714 2014
2
A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia. 61 6 56
20613862 2010
3
Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease. 6 56
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 396) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 AP5Z1 NM_014855.3(AP5Z1):c.1343_1346dup (p.Glu449fs)duplication Pathogenic 590776 rs1562410566 7:4827295-4827296 7:4787664-4787665
2 AP5Z1 NM_014855.3(AP5Z1):c.210_231del (p.Gln70fs)deletion Pathogenic 567257 rs1562404571 7:4821224-4821245 7:4781593-4781614
3 AP5Z1 NM_014855.3(AP5Z1):c.706C>T (p.Gln236Ter)SNV Pathogenic 578441 rs988434253 7:4823918-4823918 7:4784287-4784287
4 AP5Z1 NM_014855.3(AP5Z1):c.868del (p.Arg290fs)deletion Pathogenic 566755 rs756556933 7:4824613-4824613 7:4784982-4784982
5 AP5Z1 NM_014855.3(AP5Z1):c.80_83delinsTGCTGTAAACTGTAACTGTAAA (p.Arg27_Ile28delinsLeuLeuTer)indel Pathogenic 2 rs397704705 7:4820844-4820847 7:4781213-4781216
6 AP5Z1 NM_014855.3(AP5Z1):c.1413_1426del (p.Leu473fs)deletion Pathogenic 3 rs397704709 7:4827361-4827374 7:4787730-4787743
7 AP5Z1 NM_014855.3(AP5Z1):c.1322G>A (p.Trp441Ter)SNV Pathogenic 375313 rs373919408 7:4827275-4827275 7:4787644-4787644
8 AP5Z1 NM_014855.3(AP5Z1):c.616C>T (p.Arg206Trp)SNV Pathogenic 375315 rs761451474 7:4823424-4823424 7:4783793-4783793
9 AP5Z1 NM_014855.3(AP5Z1):c.1732C>T (p.Gln578Ter)SNV Pathogenic 375316 rs1057519342 7:4829487-4829487 7:4789856-4789856
10 AP5Z1 NM_014855.2(AP5Z1):c.41+812_970deldeletion Likely pathogenic 579773 7:4816199-4825153 7:4776568-4785522
11 AP5Z1 NM_014855.3(AP5Z1):c.931+1G>ASNV Likely pathogenic 646210 7:4824680-4824680 7:4785049-4785049
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.1062C>T (p.His354=)SNV Conflicting interpretations of pathogenicity 417162 rs192441133 7:4825245-4825245 7:4785614-4785614
14 AP5Z1 NM_014855.3(AP5Z1):c.1863G>A (p.Glu621=)SNV Conflicting interpretations of pathogenicity 417165 rs780422345 7:4830147-4830147 7:4790516-4790516
15 AP5Z1 NM_014855.3(AP5Z1):c.1563G>A (p.Leu521=)SNV Conflicting interpretations of pathogenicity 417161 rs182411153 7:4827893-4827893 7:4788262-4788262
16 AP5Z1 NM_014855.3(AP5Z1):c.126C>T (p.Leu42=)SNV Conflicting interpretations of pathogenicity 446846 rs146682319 7:4820890-4820890 7:4781259-4781259
17 AP5Z1 NM_014855.3(AP5Z1):c.1773C>T (p.Tyr591=)SNV Conflicting interpretations of pathogenicity 478581 rs372922535 7:4829528-4829528 7:4789897-4789897
18 AP5Z1 NM_014855.3(AP5Z1):c.999C>T (p.Asp333=)SNV Conflicting interpretations of pathogenicity 538864 rs201196622 7:4825182-4825182 7:4785551-4785551
19 AP5Z1 NM_014855.3(AP5Z1):c.1600G>T (p.Ala534Ser)SNV Conflicting interpretations of pathogenicity 210221 rs372517211 7:4828475-4828475 7:4788844-4788844
20 AP5Z1 NM_014855.3(AP5Z1):c.481G>A (p.Val161Met)SNV Conflicting interpretations of pathogenicity 240943 rs191971593 7:4823061-4823061 7:4783430-4783430
21 AP5Z1 NM_014855.3(AP5Z1):c.849C>T (p.Ala283=)SNV Conflicting interpretations of pathogenicity 240944 rs572271008 7:4824597-4824597 7:4784966-4784966
22 AP5Z1 NM_014855.3(AP5Z1):c.2400G>A (p.Arg800=)SNV Conflicting interpretations of pathogenicity 240941 rs368571200 7:4830992-4830992 7:4791361-4791361
23 AP5Z1 NM_014855.3(AP5Z1):c.417G>A (p.Ala139=)SNV Conflicting interpretations of pathogenicity 360310 rs201203264 7:4822997-4822997 7:4783366-4783366
24 AP5Z1 NM_014855.3(AP5Z1):c.584A>G (p.His195Arg)SNV Conflicting interpretations of pathogenicity 360313 rs117659667 7:4823392-4823392 7:4783761-4783761
25 AP5Z1 NM_014855.3(AP5Z1):c.702C>T (p.Asp234=)SNV Conflicting interpretations of pathogenicity 360316 rs370728528 7:4823914-4823914 7:4784283-4784283
26 AP5Z1 NM_014855.3(AP5Z1):c.881G>A (p.Arg294Gln)SNV Conflicting interpretations of pathogenicity 360320 rs200957609 7:4824629-4824629 7:4784998-4784998
27 AP5Z1 NM_014855.3(AP5Z1):c.1132+7C>TSNV Conflicting interpretations of pathogenicity 360324 rs775865217 7:4825322-4825322 7:4785691-4785691
28 AP5Z1 NM_014855.3(AP5Z1):c.558C>T (p.Tyr186=)SNV Conflicting interpretations of pathogenicity 695581 7:4823366-4823366 7:4783735-4783735
29 AP5Z1 NM_014855.3(AP5Z1):c.1464G>A (p.Pro488=)SNV Conflicting interpretations of pathogenicity 696513 7:4827794-4827794 7:4788163-4788163
30 AP5Z1 NM_014855.3(AP5Z1):c.1584C>T (p.Gly528=)SNV Conflicting interpretations of pathogenicity 695900 7:4827914-4827914 7:4788283-4788283
31 AP5Z1 NM_014855.3(AP5Z1):c.1597T>C (p.Leu533=)SNV Conflicting interpretations of pathogenicity 695594 7:4828472-4828472 7:4788841-4788841
32 AP5Z1 NM_014855.3(AP5Z1):c.2305A>G (p.Thr769Ala)SNV Conflicting interpretations of pathogenicity 696581 7:4830897-4830897 7:4791266-4791266
33 AP5Z1 NM_014855.3(AP5Z1):c.970-5C>TSNV Conflicting interpretations of pathogenicity 695478 7:4825148-4825148 7:4785517-4785517
34 AP5Z1 NM_014855.3(AP5Z1):c.684C>T (p.Ser228=)SNV Conflicting interpretations of pathogenicity 701338 7:4823896-4823896 7:4784265-4784265
35 AP5Z1 NM_014855.3(AP5Z1):c.1617G>C (p.Leu539=)SNV Conflicting interpretations of pathogenicity 700389 7:4828492-4828492 7:4788861-4788861
36 AP5Z1 NM_014855.3(AP5Z1):c.1965G>A (p.Ser655=)SNV Conflicting interpretations of pathogenicity 700321 7:4830330-4830330 7:4790699-4790699
37 AP5Z1 NM_014855.3(AP5Z1):c.2153+8G>ASNV Conflicting interpretations of pathogenicity 698038 7:4830526-4830526 7:4790895-4790895
38 AP5Z1 NM_014855.3(AP5Z1):c.1936G>A (p.Val646Met)SNV Conflicting interpretations of pathogenicity 360340 rs200280538 7:4830220-4830220 7:4790589-4790589
39 AP5Z1 NM_014855.3(AP5Z1):c.1794C>T (p.Ala598=)SNV Conflicting interpretations of pathogenicity 360337 rs374673921 7:4829549-4829549 7:4789918-4789918
40 AP5Z1 NM_014855.3(AP5Z1):c.1953C>T (p.Gly651=)SNV Conflicting interpretations of pathogenicity 360342 rs200617745 7:4830318-4830318 7:4790687-4790687
41 AP5Z1 NM_014855.3(AP5Z1):c.366+5C>TSNV Conflicting interpretations of pathogenicity 360307 rs143800095 7:4821390-4821390 7:4781759-4781759
42 AP5Z1 NM_014855.3(AP5Z1):c.1119C>T (p.Phe373=)SNV Conflicting interpretations of pathogenicity 360323 rs886062353 7:4825302-4825302 7:4785671-4785671
43 AP5Z1 NM_014855.3(AP5Z1):c.1315C>T (p.Leu439=)SNV Conflicting interpretations of pathogenicity 360325 rs113014863 7:4827268-4827268 7:4787637-4787637
44 AP5Z1 NM_014855.3(AP5Z1):c.1557A>G (p.Gln519=)SNV Conflicting interpretations of pathogenicity 360332 rs201687417 7:4827887-4827887 7:4788256-4788256
45 AP5Z1 NM_014855.3(AP5Z1):c.259G>A (p.Ala87Thr)SNV Conflicting interpretations of pathogenicity 360305 rs775883752 7:4821278-4821278 7:4781647-4781647
46 AP5Z1 NM_014855.3(AP5Z1):c.780C>A (p.Thr260=)SNV Conflicting interpretations of pathogenicity 360318 rs377507553 7:4823992-4823992 7:4784361-4784361
47 AP5Z1 NM_014855.3(AP5Z1):c.1341C>T (p.Thr447=)SNV Conflicting interpretations of pathogenicity 360327 rs60284677 7:4827294-4827294 7:4787663-4787663
48 AP5Z1 NM_014855.3(AP5Z1):c.1473C>G (p.Ser491=)SNV Conflicting interpretations of pathogenicity 360331 rs370135619 7:4827803-4827803 7:4788172-4788172
49 AP5Z1 NM_014855.3(AP5Z1):c.1357C>G (p.Leu453Val)SNV Uncertain significance 360328 rs376979127 7:4827310-4827310 7:4787679-4787679
50 AP5Z1 NM_014855.3(AP5Z1):c.*2496G>ASNV Uncertain significance 360406 rs753348874 7:4833512-4833512 7:4793881-4793881

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 GO:0005783 9.76 WASHC5 SPAST RTN2 REEP1 FA2H ERLIN2
2 lysosomal membrane GO:0005765 9.56 ZFYVE26 SPG11 AP5S1 AP5B1
3 endoplasmic reticulum membrane GO:0005789 9.5 SPAST RTN2 REEP1 FA2H ERLIN2 CYP2U1
4 endoplasmic reticulum tubular network GO:0071782 9.32 REEP1 ATL1
5 AP-type membrane coat adaptor complex GO:0030119 8.8 AP5Z1 AP5S1 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 AP5B1 AP4E1
2 double-strand break repair via homologous recombination GO:0000724 9.13 ZFYVE26 AP5Z1 AP5S1
3 endosomal transport GO:0016197 8.92 WASHC5 AP5Z1 AP5S1 AP5B1

Molecular functions related to Spastic Paraplegia 48, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.47 ZFYVE26 WASHC5 SPG21 SPG11 SPAST RTN2

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