SPG48
MCID: SPS071
MIFTS: 38

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, 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 75 29 13 6 73
Spg48 57 12 59 75
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:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Spastic Paraplegia 48, Autosomal Recessive

UniProtKB/Swiss-Prot : 75 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 paraplegia, 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 skin, bone and eye, and related phenotypes are intellectual disability and ataxia

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 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 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 68
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
Autosomal Dominant Spastic Paraplegia Type 9

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

(show all 28)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 11, autosomal recessive 29.6 SPG11 SPG21
2 paraplegia 29.2 AP5Z1 DDHD2 ERLIN2 SPG11 SPG21 ZFYVE26
3 hereditary spastic paraplegia 28.8 AP5Z1 DDHD2 ERLIN2 SPG11 SPG21 ZFYVE26
4 spastic paraplegia 44, autosomal recessive 10.1 AP5Z1 SPG21
5 spastic paraplegia 28, autosomal recessive 10.1 AP5Z1 DDHD2
6 spastic paraplegia 54, autosomal recessive 10.1 AP5Z1 DDHD2
7 spastic paraplegia 47, autosomal recessive 10.0 AP5Z1 ERLIN2
8 spastic paraplegia 56, autosomal recessive 10.0 AP5Z1 DDHD2
9 spastic paraplegia 42, autosomal dominant 10.0 AP5Z1 ERLIN2
10 spastic paraplegia 13, autosomal dominant 10.0 AP5Z1 ERLIN2
11 spastic paraplegia 6, autosomal dominant 10.0 AP5Z1 ERLIN2
12 spastic paraplegia 12, autosomal dominant 10.0 AP5Z1 ERLIN2
13 spastic paraplegia 32, autosomal recessive 9.9 SPG11 SPG21
14 spastic paraplegia 31, autosomal dominant 9.9 AP5Z1 SPG11
15 mast syndrome 9.9 SPG11 SPG21
16 amyotrophic lateral sclerosis type 5 9.9 SPG11 SPG21
17 spastic paraplegia 46, autosomal recessive 9.9 SPG11 SPG21
18 spastic paraplegia 10, autosomal dominant 9.9 AP5Z1 SPG11
19 spastic paraplegia 39, autosomal recessive 9.9 AP5Z1 ERLIN2 ZFYVE26
20 spastic paraplegia 18, autosomal recessive 9.8 AP5Z1 ERLIN2 SPG21
21 spastic paraplegia 30, autosomal recessive 9.8 AP5Z1 ERLIN2 SPG21
22 spastic paraplegia 49, autosomal recessive 9.8 SPG11 ZFYVE26
23 masa syndrome 9.8 AP5Z1 SPG11
24 charcot-marie-tooth disease, axonal, type 2e 9.7 SPG11 SPG21 ZFYVE26
25 spastic paraplegia 8, autosomal dominant 9.7 AP5Z1 ERLIN2 SPG11
26 spastic paraplegia 4, autosomal dominant 9.7 ERLIN2 SPG11
27 spastic paraplegia 15, autosomal recessive 9.4 AP5Z1 DDHD2 SPG11 SPG21 ZFYVE26
28 spastic paraplegia 35, autosomal recessive 9.2 AP5Z1 DDHD2 ERLIN2 SPG11 SPG21 ZFYVE26

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

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

Human phenotypes related to Spastic Paraplegia 48, Autosomal Recessive:

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

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:

41
Skin, Bone, Eye

Publications for Spastic Paraplegia 48, Autosomal Recessive

Articles related to Spastic Paraplegia 48, Autosomal Recessive:

# Title Authors Year
1
Erratum: Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48). ( 27781213 )
2016
2
Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48. ( 24833714 )
2014

Variations for Spastic Paraplegia 48, Autosomal Recessive

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

6 (show top 50) (show all 184)
# Gene Variation Type Significance SNP ID Assembly Location
1 AP5Z1 NM_014855.2(AP5Z1): c.1413_1426delGGACCTGCCCTGCT (p.Leu473Glyfs) deletion Pathogenic rs397704709 GRCh37 Chromosome 7, 4827366: 4827379
2 AP5Z1 NM_014855.2(AP5Z1): c.1413_1426delGGACCTGCCCTGCT (p.Leu473Glyfs) deletion Pathogenic rs397704709 GRCh38 Chromosome 7, 4787735: 4787748
3 AP5Z1 NM_014855.2(AP5Z1): c.1197G> A (p.Glu399=) single nucleotide variant Conflicting interpretations of pathogenicity rs117666541 GRCh37 Chromosome 7, 4825945: 4825945
4 AP5Z1 NM_014855.2(AP5Z1): c.1197G> A (p.Glu399=) single nucleotide variant Conflicting interpretations of pathogenicity rs117666541 GRCh38 Chromosome 7, 4786314: 4786314
5 AP5Z1 NM_014855.2(AP5Z1): c.2098G> A (p.Val700Met) single nucleotide variant Benign rs11766611 GRCh37 Chromosome 7, 4830463: 4830463
6 AP5Z1 NM_014855.2(AP5Z1): c.2098G> A (p.Val700Met) single nucleotide variant Benign rs11766611 GRCh38 Chromosome 7, 4790832: 4790832
7 AP5Z1 NM_014855.2(AP5Z1): c.2379G> T (p.Thr793=) single nucleotide variant Benign rs77393809 GRCh37 Chromosome 7, 4830971: 4830971
8 AP5Z1 NM_014855.2(AP5Z1): c.2379G> T (p.Thr793=) single nucleotide variant Benign rs77393809 GRCh38 Chromosome 7, 4791340: 4791340
9 AP5Z1 NM_014855.2(AP5Z1): c.281C> G (p.Ser94Cys) single nucleotide variant Benign rs11549839 GRCh37 Chromosome 7, 4821300: 4821300
10 AP5Z1 NM_014855.2(AP5Z1): c.281C> G (p.Ser94Cys) single nucleotide variant Benign rs11549839 GRCh38 Chromosome 7, 4781669: 4781669
11 AP5Z1 NM_014855.2(AP5Z1): c.333G> C (p.Gln111His) single nucleotide variant Benign rs11549840 GRCh37 Chromosome 7, 4821352: 4821352
12 AP5Z1 NM_014855.2(AP5Z1): c.333G> C (p.Gln111His) single nucleotide variant Benign rs11549840 GRCh38 Chromosome 7, 4781721: 4781721
13 AP5Z1 NM_014855.2(AP5Z1): c.1600G> T (p.Ala534Ser) single nucleotide variant Uncertain significance rs372517211 GRCh38 Chromosome 7, 4788844: 4788844
14 AP5Z1 NM_014855.2(AP5Z1): c.1600G> T (p.Ala534Ser) single nucleotide variant Uncertain significance rs372517211 GRCh37 Chromosome 7, 4828475: 4828475
15 AP5Z1 NM_014855.2(AP5Z1): c.588C> T (p.Ser196=) single nucleotide variant Conflicting interpretations of pathogenicity rs146665638 GRCh38 Chromosome 7, 4783765: 4783765
16 AP5Z1 NM_014855.2(AP5Z1): c.588C> T (p.Ser196=) single nucleotide variant Conflicting interpretations of pathogenicity rs146665638 GRCh37 Chromosome 7, 4823396: 4823396
17 AP5Z1 NM_014855.2(AP5Z1): c.329G> A (p.Arg110Gln) single nucleotide variant Uncertain significance rs201481802 GRCh38 Chromosome 7, 4781717: 4781717
18 AP5Z1 NM_014855.2(AP5Z1): c.329G> A (p.Arg110Gln) single nucleotide variant Uncertain significance rs201481802 GRCh37 Chromosome 7, 4821348: 4821348
19 AP5Z1 NM_014855.2(AP5Z1): c.481G> A (p.Val161Met) single nucleotide variant Conflicting interpretations of pathogenicity rs191971593 GRCh37 Chromosome 7, 4823061: 4823061
20 AP5Z1 NM_014855.2(AP5Z1): c.481G> A (p.Val161Met) single nucleotide variant Conflicting interpretations of pathogenicity rs191971593 GRCh38 Chromosome 7, 4783430: 4783430
21 AP5Z1 NM_014855.2(AP5Z1): c.849C> T (p.Ala283=) single nucleotide variant Likely benign rs572271008 GRCh38 Chromosome 7, 4784966: 4784966
22 AP5Z1 NM_014855.2(AP5Z1): c.849C> T (p.Ala283=) single nucleotide variant Likely benign rs572271008 GRCh37 Chromosome 7, 4824597: 4824597
23 AP5Z1 NM_014855.2(AP5Z1): c.1003C> G (p.Leu335Val) single nucleotide variant Uncertain significance rs199930373 GRCh37 Chromosome 7, 4825186: 4825186
24 AP5Z1 NM_014855.2(AP5Z1): c.1003C> G (p.Leu335Val) single nucleotide variant Uncertain significance rs199930373 GRCh38 Chromosome 7, 4785555: 4785555
25 AP5Z1 NM_014855.2(AP5Z1): c.1009C> T (p.Arg337Trp) single nucleotide variant Uncertain significance rs367981328 GRCh38 Chromosome 7, 4785561: 4785561
26 AP5Z1 NM_014855.2(AP5Z1): c.1009C> T (p.Arg337Trp) single nucleotide variant Uncertain significance rs367981328 GRCh37 Chromosome 7, 4825192: 4825192
27 AP5Z1 NM_014855.2(AP5Z1): c.1267G> A (p.Gly423Arg) single nucleotide variant Uncertain significance rs376329631 GRCh38 Chromosome 7, 4786384: 4786384
28 AP5Z1 NM_014855.2(AP5Z1): c.1267G> A (p.Gly423Arg) single nucleotide variant Uncertain significance rs376329631 GRCh37 Chromosome 7, 4826015: 4826015
29 AP5Z1 NM_014855.2(AP5Z1): c.1284C> G (p.Leu428=) single nucleotide variant Likely benign rs368076671 GRCh38 Chromosome 7, 4786401: 4786401
30 AP5Z1 NM_014855.2(AP5Z1): c.1284C> G (p.Leu428=) single nucleotide variant Likely benign rs368076671 GRCh37 Chromosome 7, 4826032: 4826032
31 AP5Z1 NM_014855.2(AP5Z1): c.1529G> A (p.Arg510Gln) single nucleotide variant Benign/Likely benign rs77890266 GRCh37 Chromosome 7, 4827859: 4827859
32 AP5Z1 NM_014855.2(AP5Z1): c.1529G> A (p.Arg510Gln) single nucleotide variant Benign/Likely benign rs77890266 GRCh38 Chromosome 7, 4788228: 4788228
33 AP5Z1 NM_014855.2(AP5Z1): c.1554C> T (p.Phe518=) single nucleotide variant Benign/Likely benign rs77560694 GRCh37 Chromosome 7, 4827884: 4827884
34 AP5Z1 NM_014855.2(AP5Z1): c.1554C> T (p.Phe518=) single nucleotide variant Benign/Likely benign rs77560694 GRCh38 Chromosome 7, 4788253: 4788253
35 AP5Z1 NM_014855.2(AP5Z1): c.1585G> A (p.Ala529Thr) single nucleotide variant Uncertain significance rs535174478 GRCh37 Chromosome 7, 4827915: 4827915
36 AP5Z1 NM_014855.2(AP5Z1): c.1585G> A (p.Ala529Thr) single nucleotide variant Uncertain significance rs535174478 GRCh38 Chromosome 7, 4788284: 4788284
37 AP5Z1 NM_014855.2(AP5Z1): c.2060C> G (p.Ser687Cys) single nucleotide variant Uncertain significance rs201478168 GRCh37 Chromosome 7, 4830425: 4830425
38 AP5Z1 NM_014855.2(AP5Z1): c.2060C> G (p.Ser687Cys) single nucleotide variant Uncertain significance rs201478168 GRCh38 Chromosome 7, 4790794: 4790794
39 AP5Z1 NM_014855.2(AP5Z1): c.2248C> A (p.Arg750=) single nucleotide variant Likely benign rs376075136 GRCh38 Chromosome 7, 4791209: 4791209
40 AP5Z1 NM_014855.2(AP5Z1): c.2248C> A (p.Arg750=) single nucleotide variant Likely benign rs376075136 GRCh37 Chromosome 7, 4830840: 4830840
41 AP5Z1 NM_014855.2(AP5Z1): c.2361G> A (p.Leu787=) single nucleotide variant Likely benign rs878854988 GRCh37 Chromosome 7, 4830953: 4830953
42 AP5Z1 NM_014855.2(AP5Z1): c.2361G> A (p.Leu787=) single nucleotide variant Likely benign rs878854988 GRCh38 Chromosome 7, 4791322: 4791322
43 AP5Z1 NM_014855.2(AP5Z1): c.2400G> A (p.Arg800=) single nucleotide variant Conflicting interpretations of pathogenicity rs368571200 GRCh37 Chromosome 7, 4830992: 4830992
44 AP5Z1 NM_014855.2(AP5Z1): c.2400G> A (p.Arg800=) single nucleotide variant Conflicting interpretations of pathogenicity rs368571200 GRCh38 Chromosome 7, 4791361: 4791361
45 AP5Z1 NM_014855.2(AP5Z1): c.379G> A (p.Glu127Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs115454162 GRCh37 Chromosome 7, 4822959: 4822959
46 AP5Z1 NM_014855.2(AP5Z1): c.379G> A (p.Glu127Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs115454162 GRCh38 Chromosome 7, 4783328: 4783328
47 AP5Z1 NM_014855.2(AP5Z1): c.512-7A> G single nucleotide variant Benign/Likely benign rs73305371 GRCh37 Chromosome 7, 4823313: 4823313
48 AP5Z1 NM_014855.2(AP5Z1): c.512-7A> G single nucleotide variant Benign/Likely benign rs73305371 GRCh38 Chromosome 7, 4783682: 4783682
49 AP5Z1 NM_014855.2(AP5Z1): c.584A> G (p.His195Arg) single nucleotide variant Uncertain significance rs117659667 GRCh37 Chromosome 7, 4823392: 4823392
50 AP5Z1 NM_014855.2(AP5Z1): c.584A> G (p.His195Arg) single nucleotide variant Uncertain significance rs117659667 GRCh38 Chromosome 7, 4783761: 4783761

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 AP5Z1 ZFYVE26

Sources for Spastic Paraplegia 48, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....