SPG50
MCID: SPS103
MIFTS: 42

Spastic Paraplegia 50, Autosomal Recessive (SPG50)

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 50, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 50, Autosomal Recessive:

Name: Spastic Paraplegia 50, Autosomal Recessive 58 76 30 13 6
Spg50 58 12 76
Hereditary Spastic Paraplegia 50 12 15
Cerebral Palsy, Spastic Quadriplegic, 3, Formerly; Cpsq3, Formerly 58
Paraplegia, Spastic, Autosomal Recessive, Type 50 ) 41
Cerebral Palsy, Spastic Quadriplegic, 3, Formerly 58
Spastic Paraplegia-50, Autosomal Recessive 74
Autosomal Recessive Spastic Paraplegia 50 12
Spastic Quadriplegic Cerebral Palsy 3 12
Cpsq3, Formerly 58
Cpsq3 12

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth or prenatally


HPO:

33
spastic paraplegia 50, autosomal recessive:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Spastic Paraplegia 50, Autosomal Recessive

UniProtKB/Swiss-Prot : 76 Spastic paraplegia 50, 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. SPG50 affected individuals present postnatally with early infantile hypotonia, delayed psychomotor development, strabismus, lack of independent walking and severe mental retardation. They develop progressive spasticity of all limbs with generalized hypertonia, hyperreflexia, and extensor plantar responses by the end of the first year of life. Speech is absent or limited. Pseudobulbar signs, such as drooling, stereotypic laughter, and exaggerated jaw jerk, are part of the clinical picture.

MalaCards based summary : Spastic Paraplegia 50, Autosomal Recessive, also known as spg50, is related to cerebral palsy, spastic quadriplegic, 3 and paraplegia, and has symptoms including seizures and pseudobulbar signs. An important gene associated with Spastic Paraplegia 50, Autosomal Recessive is AP4M1 (Adaptor Related Protein Complex 4 Subunit Mu 1), and among its related pathways/superpathways are Clathrin derived vesicle budding and Lysosome. Affiliated tissues include skin, bone and eye, and related phenotypes are high palate and seizures

Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the AP4M1 gene on chromosome 7q22.1.

OMIM : 58 Spastic paraplegia-50 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Verkerk et al., 2009). (612936)

Related Diseases for Spastic Paraplegia 50, 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 Hereditary Spastic Paraplegia 23
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 50, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 cerebral palsy, spastic quadriplegic, 3 11.9
2 paraplegia 9.8 AP5Z1 RTN2
3 hypertonia 9.7 AP4B1 AP4M1 AP4S1
4 spastic paraplegia 47, autosomal recessive 9.7 AP4B1 AP5Z1
5 cerebral palsy 9.7 AP4B1 AP4M1 AP4S1
6 spastic paraplegia 33, autosomal dominant 9.7 AP5Z1 RTN2
7 spastic paraplegia 31, autosomal dominant 9.6 AP5Z1 RTN2
8 spastic paraplegia 12, autosomal dominant 9.6 AP5Z1 RTN2
9 spastic paraplegia 54, autosomal recessive 9.5 AP4S1 AP5Z1 RTN2
10 spastic paraplegia 10, autosomal dominant 9.4 AP5Z1 RTN2
11 spastic paraplegia 56, autosomal recessive 9.4 AP4S1 AP5Z1 RTN2
12 spastic paraplegia 2, x-linked 9.4 AP4B1 AP5Z1 RTN2
13 hereditary spastic paraplegia 9.2 AP4B1 AP4M1 AP5Z1 RTN2
14 hereditary spastic paraplegia 51 9.2 AP4B1 AP4S1 AP5Z1 RTN2
15 spastic paraplegia 52, autosomal recessive 9.2 AP4B1 AP4S1 AP5Z1 RTN2
16 spastic paraplegia 28, autosomal recessive 9.2 AP4B1 AP4S1 AP5Z1 RTN2

Graphical network of the top 20 diseases related to Spastic Paraplegia 50, Autosomal Recessive:



Diseases related to Spastic Paraplegia 50, Autosomal Recessive

Symptoms & Phenotypes for Spastic Paraplegia 50, Autosomal Recessive

Human phenotypes related to Spastic Paraplegia 50, Autosomal Recessive:

33 (show all 28)
# Description HPO Frequency HPO Source Accession
1 high palate 33 HP:0000218
2 seizures 33 HP:0001250
3 hyperreflexia 33 HP:0001347
4 coarse facial features 33 HP:0000280
5 mandibular prognathia 33 HP:0000303
6 global developmental delay 33 HP:0001263
7 microcephaly 33 HP:0000252
8 neonatal hypotonia 33 HP:0001319
9 spastic tetraplegia 33 HP:0002510
10 intellectual disability, severe 33 HP:0010864
11 strabismus 33 HP:0000486
12 babinski sign 33 HP:0003487
13 ventriculomegaly 33 HP:0002119
14 talipes equinovarus 33 HP:0001762
15 intellectual disability, progressive 33 HP:0006887
16 wide mouth 33 HP:0000154
17 short philtrum 33 HP:0000322
18 bulbous nose 33 HP:0000414
19 adducted thumb 33 HP:0001181
20 cerebral palsy 33 HP:0100021
21 spastic paraplegia 33 HP:0001258
22 cerebellar atrophy 33 HP:0001272
23 hypoplasia of the corpus callosum 33 HP:0002079
24 drooling 33 HP:0002307
25 gliosis 33 HP:0002171
26 pseudobulbar signs 33 HP:0002200
27 narrow forehead 33 HP:0000341
28 wide nasal ridge 33 HP:0012811

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
hyperreflexia
hypertonia
ventriculomegaly
cerebellar atrophy
more
Head And Neck Eyes:
strabismus

Head And Neck Face:
short philtrum
drooling
pseudobulbar signs
coarse face
bitemporal narrowing
more
Skeletal Hands:
adducted thumbs

Head And Neck Head:
microcephaly

Head And Neck Mouth:
wide mouth
high-arched palate
everted upper vermilion
prominent jaw reflex

Head And Neck Nose:
bulbous nose
broad nasal ridge

Skeletal Feet:
club feet

Clinical features from OMIM:

612936

UMLS symptoms related to Spastic Paraplegia 50, Autosomal Recessive:


seizures, pseudobulbar signs

Drugs & Therapeutics for Spastic Paraplegia 50, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 50, Autosomal Recessive

Genetic Tests for Spastic Paraplegia 50, Autosomal Recessive

Genetic tests related to Spastic Paraplegia 50, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Spastic Paraplegia 50, Autosomal Recessive 30 AP4M1

Anatomical Context for Spastic Paraplegia 50, Autosomal Recessive

MalaCards organs/tissues related to Spastic Paraplegia 50, Autosomal Recessive:

42
Skin, Bone, Eye

Publications for Spastic Paraplegia 50, Autosomal Recessive

Articles related to Spastic Paraplegia 50, Autosomal Recessive:

# Title Authors Year
1
Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: expansion of the facial and neuroimaging features. ( 24700674 )
2014
2
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. ( 21937992 )
2011
3
Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy. ( 19559397 )
2009
4
Practice parameter: diagnostic assessment of the child with cerebral palsy: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. ( 15037681 )
2004

Variations for Spastic Paraplegia 50, Autosomal Recessive

ClinVar genetic disease variations for Spastic Paraplegia 50, Autosomal Recessive:

6 (show top 50) (show all 65)
# Gene Variation Type Significance SNP ID Assembly Location
1 AP4M1 AP4M1, IVS14DS, G-T, +1 single nucleotide variant Pathogenic
2 AP4M1 NM_004722.3(AP4M1): c.577G> A (p.Glu193Lys) single nucleotide variant Uncertain significance rs387906838 GRCh37 Chromosome 7, 99701748: 99701748
3 AP4M1 NM_004722.3(AP4M1): c.577G> A (p.Glu193Lys) single nucleotide variant Uncertain significance rs387906838 GRCh38 Chromosome 7, 100104125: 100104125
4 AP4M1 NM_004722.3(AP4M1): c.1002C> T (p.Leu334=) single nucleotide variant Benign rs140843407 GRCh37 Chromosome 7, 99703891: 99703891
5 AP4M1 NM_004722.3(AP4M1): c.1002C> T (p.Leu334=) single nucleotide variant Benign rs140843407 GRCh38 Chromosome 7, 100106268: 100106268
6 AP4M1 NM_004722.3(AP4M1): c.1305C> T (p.Asn435=) single nucleotide variant Benign rs4134932 GRCh37 Chromosome 7, 99704448: 99704448
7 AP4M1 NM_004722.3(AP4M1): c.1305C> T (p.Asn435=) single nucleotide variant Benign rs4134932 GRCh38 Chromosome 7, 100106825: 100106825
8 AP4M1 NM_004722.3(AP4M1): c.952C> T (p.Arg318Ter) single nucleotide variant Pathogenic/Likely pathogenic rs730882249 GRCh38 Chromosome 7, 100105981: 100105981
9 AP4M1 NM_004722.3(AP4M1): c.952C> T (p.Arg318Ter) single nucleotide variant Pathogenic/Likely pathogenic rs730882249 GRCh37 Chromosome 7, 99703604: 99703604
10 AP4M1 NM_004722.3(AP4M1): c.1012C> T (p.Arg338Ter) single nucleotide variant Pathogenic rs146262009 GRCh38 Chromosome 7, 100106278: 100106278
11 AP4M1 NM_004722.3(AP4M1): c.1012C> T (p.Arg338Ter) single nucleotide variant Pathogenic rs146262009 GRCh37 Chromosome 7, 99703901: 99703901
12 AP4M1 NM_004722.3(AP4M1): c.32delA (p.Lys11Argfs) deletion Pathogenic/Likely pathogenic rs797045249 GRCh37 Chromosome 7, 99699369: 99699369
13 AP4M1 NM_004722.3(AP4M1): c.32delA (p.Lys11Argfs) deletion Pathogenic/Likely pathogenic rs797045249 GRCh38 Chromosome 7, 100101746: 100101746
14 AP4M1 NM_004722.3(AP4M1): c.228C> T (p.Pro76=) single nucleotide variant Benign rs41280965 GRCh38 Chromosome 7, 100102755: 100102755
15 AP4M1 NM_004722.3(AP4M1): c.228C> T (p.Pro76=) single nucleotide variant Benign rs41280965 GRCh37 Chromosome 7, 99700378: 99700378
16 AP4M1 NM_004722.3(AP4M1): c.333A> C (p.Glu111Asp) single nucleotide variant Uncertain significance rs138437966 GRCh37 Chromosome 7, 99700565: 99700565
17 AP4M1 NM_004722.3(AP4M1): c.333A> C (p.Glu111Asp) single nucleotide variant Uncertain significance rs138437966 GRCh38 Chromosome 7, 100102942: 100102942
18 AP4M1 NM_004722.3(AP4M1): c.930G> A (p.Arg310=) single nucleotide variant Conflicting interpretations of pathogenicity rs141754568 GRCh37 Chromosome 7, 99703582: 99703582
19 AP4M1 NM_004722.3(AP4M1): c.930G> A (p.Arg310=) single nucleotide variant Conflicting interpretations of pathogenicity rs141754568 GRCh38 Chromosome 7, 100105959: 100105959
20 AP4M1 NM_004722.3(AP4M1): c.380C> T (p.Thr127Met) single nucleotide variant Uncertain significance rs147261925 GRCh37 Chromosome 7, 99701060: 99701060
21 AP4M1 NM_004722.3(AP4M1): c.380C> T (p.Thr127Met) single nucleotide variant Uncertain significance rs147261925 GRCh38 Chromosome 7, 100103437: 100103437
22 AP4M1 NM_004722.3(AP4M1): c.740G> C (p.Gly247Ala) single nucleotide variant Benign/Likely benign rs145887263 GRCh37 Chromosome 7, 99702875: 99702875
23 AP4M1 NM_004722.3(AP4M1): c.740G> C (p.Gly247Ala) single nucleotide variant Benign/Likely benign rs145887263 GRCh38 Chromosome 7, 100105252: 100105252
24 AP4M1 NM_004722.3(AP4M1): c.1100G> A (p.Arg367Gln) single nucleotide variant Uncertain significance rs139861201 GRCh37 Chromosome 7, 99704100: 99704100
25 AP4M1 NM_004722.3(AP4M1): c.1100G> A (p.Arg367Gln) single nucleotide variant Uncertain significance rs139861201 GRCh38 Chromosome 7, 100106477: 100106477
26 AP4M1 NM_004722.3(AP4M1): c.163C> T (p.His55Tyr) single nucleotide variant Uncertain significance rs578114705 GRCh37 Chromosome 7, 99700313: 99700313
27 AP4M1 NM_004722.3(AP4M1): c.163C> T (p.His55Tyr) single nucleotide variant Uncertain significance rs578114705 GRCh38 Chromosome 7, 100102690: 100102690
28 AP4M1 NM_004722.3(AP4M1): c.544-6T> G single nucleotide variant Conflicting interpretations of pathogenicity rs372511561 GRCh37 Chromosome 7, 99701709: 99701709
29 AP4M1 NM_004722.3(AP4M1): c.544-6T> G single nucleotide variant Conflicting interpretations of pathogenicity rs372511561 GRCh38 Chromosome 7, 100104086: 100104086
30 AP4M1 NM_004722.3(AP4M1): c.842_843delTG (p.Val281Aspfs) deletion Pathogenic rs776788025 GRCh38 Chromosome 7, 100105452: 100105453
31 AP4M1 NM_004722.3(AP4M1): c.842_843delTG (p.Val281Aspfs) deletion Pathogenic rs776788025 GRCh37 Chromosome 7, 99703075: 99703076
32 AP4M1 NM_004722.3(AP4M1): c.953G> A (p.Arg318Gln) single nucleotide variant Uncertain significance rs531148057 GRCh37 Chromosome 7, 99703605: 99703605
33 AP4M1 NM_004722.3(AP4M1): c.953G> A (p.Arg318Gln) single nucleotide variant Uncertain significance rs531148057 GRCh38 Chromosome 7, 100105982: 100105982
34 AP4M1 NM_004722.3(AP4M1): c.58+2T> G single nucleotide variant Likely pathogenic rs1554377262 GRCh38 Chromosome 7, 100101774: 100101774
35 AP4M1 NM_004722.3(AP4M1): c.58+2T> G single nucleotide variant Likely pathogenic rs1554377262 GRCh37 Chromosome 7, 99699397: 99699397
36 AP4M1 NM_004722.3(AP4M1): c.129C> A (p.Asp43Glu) single nucleotide variant Uncertain significance rs760835879 GRCh38 Chromosome 7, 100101950: 100101950
37 AP4M1 NM_004722.3(AP4M1): c.129C> A (p.Asp43Glu) single nucleotide variant Uncertain significance rs760835879 GRCh37 Chromosome 7, 99699573: 99699573
38 AP4M1 NM_004722.3(AP4M1): c.364G> A (p.Val122Ile) single nucleotide variant Uncertain significance rs572732241 GRCh38 Chromosome 7, 100103421: 100103421
39 AP4M1 NM_004722.3(AP4M1): c.364G> A (p.Val122Ile) single nucleotide variant Uncertain significance rs572732241 GRCh37 Chromosome 7, 99701044: 99701044
40 AP4M1 NM_004722.3(AP4M1): c.851A> C (p.Tyr284Ser) single nucleotide variant Uncertain significance rs1554380391 GRCh38 Chromosome 7, 100105461: 100105461
41 AP4M1 NM_004722.3(AP4M1): c.851A> C (p.Tyr284Ser) single nucleotide variant Uncertain significance rs1554380391 GRCh37 Chromosome 7, 99703084: 99703084
42 AP4M1 NM_004722.3(AP4M1): c.1195C> T (p.Pro399Ser) single nucleotide variant Uncertain significance rs773269627 GRCh38 Chromosome 7, 100106715: 100106715
43 AP4M1 NM_004722.3(AP4M1): c.1195C> T (p.Pro399Ser) single nucleotide variant Uncertain significance rs773269627 GRCh37 Chromosome 7, 99704338: 99704338
44 AP4M1 NM_004722.3(AP4M1): c.453C> T (p.Ser151=) single nucleotide variant Likely benign rs1388187930 GRCh37 Chromosome 7, 99701133: 99701133
45 AP4M1 NM_004722.3(AP4M1): c.453C> T (p.Ser151=) single nucleotide variant Likely benign rs1388187930 GRCh38 Chromosome 7, 100103510: 100103510
46 AP4M1 NM_004722.3(AP4M1): c.1225T> C (p.Phe409Leu) single nucleotide variant Pathogenic rs760907496 GRCh38 Chromosome 7, 100106745: 100106745
47 AP4M1 NM_004722.3(AP4M1): c.1225T> C (p.Phe409Leu) single nucleotide variant Pathogenic rs760907496 GRCh37 Chromosome 7, 99704368: 99704368
48 AP4M1 NM_004722.3(AP4M1): c.802C> T (p.Arg268Ter) single nucleotide variant Pathogenic rs780030221 GRCh38 Chromosome 7, 100105314: 100105314
49 AP4M1 NM_004722.3(AP4M1): c.802C> T (p.Arg268Ter) single nucleotide variant Pathogenic rs780030221 GRCh37 Chromosome 7, 99702937: 99702937
50 AP4M1 NM_004722.3(AP4M1): c.847C> T (p.Arg283Trp) single nucleotide variant Uncertain significance rs575096086 GRCh37 Chromosome 7, 99703080: 99703080

Expression for Spastic Paraplegia 50, Autosomal Recessive

Search GEO for disease gene expression data for Spastic Paraplegia 50, Autosomal Recessive.

Pathways for Spastic Paraplegia 50, Autosomal Recessive

Pathways related to Spastic Paraplegia 50, Autosomal Recessive according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.51 AP4B1 AP4M1 AP4S1
2 10.89 AP4B1 AP4M1 AP4S1

GO Terms for Spastic Paraplegia 50, Autosomal Recessive

Cellular components related to Spastic Paraplegia 50, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 trans-Golgi network membrane GO:0032588 9.33 AP4B1 AP4M1 AP4S1
2 trans-Golgi network GO:0005802 9.32 AP4B1 AP4M1
3 clathrin adaptor complex GO:0030131 9.26 AP4B1 AP4M1
4 endosome lumen GO:0031904 9.13 AP4B1 AP4M1 AP4S1
5 AP-4 adaptor complex GO:0030124 8.8 AP4B1 AP4M1 AP4S1

Biological processes related to Spastic Paraplegia 50, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.46 AP4B1 AP4M1 AP4S1 AP5Z1
2 intracellular protein transport GO:0006886 9.43 AP4B1 AP4M1 AP4S1
3 protein localization GO:0008104 9.13 AP4B1 AP4M1 AP4S1
4 protein targeting GO:0006605 8.8 AP4B1 AP4M1 AP4S1

Sources for Spastic Paraplegia 50, Autosomal Recessive

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
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31 HGMD
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63 PubMed
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70 SNOMED-CT via HPO
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