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, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory 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 57 72 29 13 6
Spg50 57 12 72
Hereditary Spastic Paraplegia 50 12 15
Cerebral Palsy, Spastic Quadriplegic, 3, Formerly; Cpsq3, Formerly 57
Cerebral Palsy, Spastic Quadriplegic, 3, Formerly 57
Paraplegia, Spastic, Autosomal Recessive, Type 50 39
Spastic Paraplegia-50, Autosomal Recessive 70
Autosomal Recessive Spastic Paraplegia 50 12
Spastic Quadriplegic Cerebral Palsy 3 12
Cpsq3, Formerly 57
Cpsq3 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth or prenatally


HPO:

31
spastic paraplegia 50, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



Summaries for Spastic Paraplegia 50, Autosomal Recessive

UniProtKB/Swiss-Prot : 72 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 paraplegia and hereditary spastic 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 eye, and related phenotypes are hyperreflexia and high palate

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

OMIM® : 57 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) (Updated 20-May-2021)

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 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
Spastic Paraplegia 83, 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 50, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 78)
# Related Disease Score Top Affiliating Genes
1 paraplegia 27.2 ZFYVE26 SPG7 SPG21 SPG11 RTN2 AP5Z1
2 hereditary spastic paraplegia 27.2 ZFYVE26 SPG7 SPG21 SPG11 RTN2 AP5Z1
3 cerebral palsy, spastic quadriplegic, 3 11.4
4 horner's syndrome 10.2 AP4S1 AP4B1
5 hermansky-pudlak syndrome 2 10.1 AP4M1 AP4E1
6 complex hereditary spastic paraplegia 10.1 SPG7 SPG11
7 spastic paraplegia, optic atrophy, and neuropathy 10.0 AP5Z1 AP4S1
8 spastic paraplegia 7, autosomal recessive 10.0 SPG7 SPG11
9 spastic cerebral palsy 10.0 AP4S1 AP4B1
10 spastic paraplegia 29, autosomal dominant 9.9 ZFYVE26 SPG21
11 spastic paraplegia 25, autosomal recessive 9.9 ZFYVE26 SPG21
12 spastic paraplegia 19, autosomal dominant 9.9 ZFYVE26 SPG21
13 spastic paraplegia 37, autosomal dominant 9.9 ZFYVE26 SPG21
14 spastic paraplegia 34, x-linked 9.9 ZFYVE26 SPG21
15 spastic paraplegia 26, autosomal recessive 9.9 SPG21 SPG11
16 spinocerebellar ataxia, autosomal recessive 20 9.9 ZFYVE26 SPG11
17 charcot-marie-tooth disease, axonal, type 2r 9.9 ZFYVE26 SPG21
18 ap-4-associated hereditary spastic paraplegia 9.9 AP4S1 AP4M1 AP4E1 AP4B1
19 spastic diplegia 9.9 AP4S1 AP4M1 AP4E1 AP4B1
20 quadriplegia 9.9 AP4S1 AP4M1 AP4E1 AP4B1
21 gastroesophageal reflux 9.9
22 silver-russell syndrome 1 9.9
23 microcephaly 9.9
24 diencephalic syndrome 9.9
25 hypotonia 9.9
26 spasticity 9.9
27 non-specific syndromic intellectual disability 9.9
28 amyotrophic lateral sclerosis type 5 9.9 ZFYVE26 SPG11 AP5Z1
29 cerebral palsy 9.9 AP4S1 AP4M1 AP4E1 AP4B1
30 mast syndrome 9.9 SPG21 SPG11
31 charcot-marie-tooth disease, axonal, type 2t 9.9 ZFYVE26 SPG21
32 spastic paraplegia 28, autosomal recessive 9.9 SPG7 SPG11 AP5Z1
33 spastic paraplegia 5a, autosomal recessive 9.8 ZFYVE26 SPG7 SPG11
34 spastic paraplegia 45, autosomal recessive 9.8 SPG21 SPG11 AP4E1
35 motor peripheral neuropathy 9.8 ZFYVE26 SPG7 SPG11
36 spastic paraplegia 44, autosomal recessive 9.8 SPG21 SPG11 AP5Z1
37 hereditary spastic paraplegia 23 9.8 ZFYVE26 SPG21 SPG11
38 spastic paraplegia 64, autosomal recessive 9.8 ZFYVE26 SPG21 SPG11
39 spastic paraplegia 16, x-linked 9.8 SPG7 SPG21 SPG11
40 spastic paraplegia 14, autosomal recessive 9.8 SPG7 SPG21 SPG11
41 spastic paraparesis 9.7 SPG7 SPG11
42 spastic paraplegia 20, autosomal recessive 9.7 ZFYVE26 SPG7 SPG21
43 spastic paraplegia 3, autosomal dominant 9.6 SPG7 SPG11 RTN2
44 spastic paraplegia 63, autosomal recessive 9.6 SPG7 SPG21 SPG11 AP4E1
45 hereditary spastic paraplegia 30 9.5 SPG7 SPG21 SPG11 AP5Z1
46 spastic paraplegia 54, autosomal recessive 9.5 SPG7 SPG21 SPG11 AP5Z1
47 spastic paraplegia 49, autosomal recessive 9.5 ZFYVE26 SPG7 SPG21 SPG11
48 spastic paraplegia 55, autosomal recessive 9.5 ZFYVE26 SPG7 SPG21 SPG11
49 nescav syndrome 9.5 ZFYVE26 RTN2 AP5Z1 AP4S1
50 charcot-marie-tooth disease, axonal, type 2e 9.5 ZFYVE26 SPG7 SPG21 SPG11

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:

31 (show all 28)
# Description HPO Frequency HPO Source Accession
1 hyperreflexia 31 HP:0001347
2 high palate 31 HP:0000218
3 coarse facial features 31 HP:0000280
4 global developmental delay 31 HP:0001263
5 mandibular prognathia 31 HP:0000303
6 microcephaly 31 HP:0000252
7 neonatal hypotonia 31 HP:0001319
8 spastic tetraplegia 31 HP:0002510
9 intellectual disability, severe 31 HP:0010864
10 strabismus 31 HP:0000486
11 talipes equinovarus 31 HP:0001762
12 wide mouth 31 HP:0000154
13 intellectual disability, progressive 31 HP:0006887
14 ventriculomegaly 31 HP:0002119
15 short philtrum 31 HP:0000322
16 bulbous nose 31 HP:0000414
17 adducted thumb 31 HP:0001181
18 cerebral palsy 31 HP:0100021
19 spastic paraplegia 31 HP:0001258
20 babinski sign 31 HP:0003487
21 hypoplasia of the corpus callosum 31 HP:0002079
22 cerebellar atrophy 31 HP:0001272
23 drooling 31 HP:0002307
24 narrow forehead 31 HP:0000341
25 gliosis 31 HP:0002171
26 pseudobulbar signs 31 HP:0002200
27 wide nasal ridge 31 HP:0012811
28 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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 29 AP4M1

Anatomical Context for Spastic Paraplegia 50, Autosomal Recessive

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

40
Eye

Publications for Spastic Paraplegia 50, Autosomal Recessive

Articles related to Spastic Paraplegia 50, Autosomal Recessive:

# Title Authors PMID Year
1
Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: expansion of the facial and neuroimaging features. 57 6
24700674 2014
2
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 57 6
21937992 2011
3
Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy. 57 6
19559397 2009
4
Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia. 6
29096665 2017
5
Blended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7. 61
33553621 2021
6
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia. 61
32979048 2020
7
Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking. 61
31915823 2020
8
Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4B1-associated hereditary spastic paraplegia (SPG47). 61
31525725 2019
9
Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms. 61
23897027 2013

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 Name Type Significance ClinVarId dbSNP ID Position
1 AP4M1 NM_004722.4(AP4M1):c.802C>T (p.Arg268Ter) SNV Pathogenic 522944 rs780030221 GRCh37: 7:99702937-99702937
GRCh38: 7:100105314-100105314
2 AP4M1 NM_004722.4(AP4M1):c.547C>T (p.Gln183Ter) SNV Pathogenic 982098 GRCh37: 7:99701718-99701718
GRCh38: 7:100104095-100104095
3 AP4M1 NM_004722.4(AP4M1):c.952C>T (p.Arg318Ter) SNV Pathogenic 183357 rs730882249 GRCh37: 7:99703604-99703604
GRCh38: 7:100105981-100105981
4 AP4M1 AP4M1, IVS14DS, G-T, +1 SNV Pathogenic 7349 GRCh37:
GRCh38:
5 AP4M1 NM_004722.4(AP4M1):c.840_841TG[1] (p.Val281fs) Microsatellite Pathogenic 450738 rs776788025 GRCh37: 7:99703073-99703074
GRCh38: 7:100105450-100105451
6 AP4M1 NM_004722.4(AP4M1):c.1012C>T (p.Arg338Ter) SNV Pathogenic 209980 rs146262009 GRCh37: 7:99703901-99703901
GRCh38: 7:100106278-100106278
7 AP4M1 NM_004722.4(AP4M1):c.916C>T (p.Arg306Ter) SNV Pathogenic 561150 rs369459721 GRCh37: 7:99703149-99703149
GRCh38: 7:100105526-100105526
8 AP4M1 NM_004722.4(AP4M1):c.1117C>T (p.Gln373Ter) SNV Pathogenic 973233 GRCh37: 7:99704117-99704117
GRCh38: 7:100106494-100106494
9 AP4M1 NM_004722.4(AP4M1):c.32del (p.Lys11fs) Deletion Pathogenic/Likely pathogenic 210211 rs797045249 GRCh37: 7:99699368-99699368
GRCh38: 7:100101745-100101745
10 AP4M1 NM_004722.4(AP4M1):c.203del (p.Val68fs) Deletion Likely pathogenic 804402 rs1584507780 GRCh37: 7:99700353-99700353
GRCh38: 7:100102730-100102730
11 AP4M1 NM_004722.4(AP4M1):c.955T>C (p.Cys319Arg) SNV Likely pathogenic 210216 rs754498075 GRCh37: 7:99703607-99703607
GRCh38: 7:100105984-100105984
12 AP4M1 NM_004722.4(AP4M1):c.58+2T>G SNV Likely pathogenic 471068 rs1554377262 GRCh37: 7:99699397-99699397
GRCh38: 7:100101774-100101774
13 AP4M1 NM_004722.4(AP4M1):c.1225T>C (p.Phe409Leu) SNV Likely pathogenic 522649 rs760907496 GRCh37: 7:99704368-99704368
GRCh38: 7:100106745-100106745
14 AP4M1 NM_004722.4(AP4M1):c.1140G>A (p.Met380Ile) SNV Conflicting interpretations of pathogenicity 699372 rs574878636 GRCh37: 7:99704283-99704283
GRCh38: 7:100106660-100106660
15 AP4M1 NM_004722.4(AP4M1):c.333A>C (p.Glu111Asp) SNV Conflicting interpretations of pathogenicity 210212 rs138437966 GRCh37: 7:99700565-99700565
GRCh38: 7:100102942-100102942
16 AP4M1 NM_004722.4(AP4M1):c.1321C>T (p.Arg441Ter) SNV Conflicting interpretations of pathogenicity 279679 rs886041126 GRCh37: 7:99704464-99704464
GRCh38: 7:100106841-100106841
17 AP4M1 NM_004722.4(AP4M1):c.889C>T (p.Arg297Trp) SNV Uncertain significance 1062835 GRCh37: 7:99703122-99703122
GRCh38: 7:100105499-100105499
18 AP4M1 NM_004722.4(AP4M1):c.1339G>A (p.Asp447Asn) SNV Uncertain significance 860581 GRCh37: 7:99704482-99704482
GRCh38: 7:100106859-100106859
19 AP4M1 NM_004722.4(AP4M1):c.163C>T (p.His55Tyr) SNV Uncertain significance 412222 rs578114705 GRCh37: 7:99700313-99700313
GRCh38: 7:100102690-100102690
20 AP4M1 NM_004722.4(AP4M1):c.1195C>T (p.Pro399Ser) SNV Uncertain significance 471064 rs773269627 GRCh37: 7:99704338-99704338
GRCh38: 7:100106715-100106715
21 AP4M1 NM_004722.4(AP4M1):c.953G>A (p.Arg318Gln) SNV Uncertain significance 450388 rs531148057 GRCh37: 7:99703605-99703605
GRCh38: 7:100105982-100105982
22 AP4M1 NM_004722.4(AP4M1):c.380C>T (p.Thr127Met) SNV Uncertain significance 376829 rs147261925 GRCh37: 7:99701060-99701060
GRCh38: 7:100103437-100103437
23 AP4M1 NM_004722.4(AP4M1):c.803G>A (p.Arg268Gln) SNV Uncertain significance 639232 rs565296810 GRCh37: 7:99702938-99702938
GRCh38: 7:100105315-100105315
24 AP4M1 NM_004722.4(AP4M1):c.920G>C (p.Gly307Ala) SNV Uncertain significance 1005831 GRCh37: 7:99703153-99703153
GRCh38: 7:100105530-100105530
25 AP4M1 NM_004722.4(AP4M1):c.1100G>A (p.Arg367Gln) SNV Uncertain significance 386884 rs139861201 GRCh37: 7:99704100-99704100
GRCh38: 7:100106477-100106477
26 AP4M1 NM_004722.4(AP4M1):c.746G>A (p.Arg249Gln) SNV Uncertain significance 834214 GRCh37: 7:99702881-99702881
GRCh38: 7:100105258-100105258
27 AP4M1 NM_004722.4(AP4M1):c.1060G>C (p.Ala354Pro) SNV Uncertain significance 856180 GRCh37: 7:99704060-99704060
GRCh38: 7:100106437-100106437
28 AP4M1 NM_004722.4(AP4M1):c.513C>G (p.Ser171Arg) SNV Uncertain significance 943341 GRCh37: 7:99701285-99701285
GRCh38: 7:100103662-100103662
29 AP4M1 NM_004722.4(AP4M1):c.137C>T (p.Pro46Leu) SNV Uncertain significance 947354 GRCh37: 7:99699581-99699581
GRCh38: 7:100101958-100101958
30 AP4M1 NM_004722.4(AP4M1):c.679C>T (p.Arg227Cys) SNV Uncertain significance 972330 GRCh37: 7:99702673-99702673
GRCh38: 7:100105050-100105050
31 AP4M1 NM_004722.4(AP4M1):c.12A>G (p.Gln4=) SNV Uncertain significance 1014429 GRCh37: 7:99699349-99699349
GRCh38: 7:100101726-100101726
32 AP4M1 NM_004722.4(AP4M1):c.496C>T (p.Pro166Ser) SNV Uncertain significance 388602 rs201290190 GRCh37: 7:99701268-99701268
GRCh38: 7:100103645-100103645
33 AP4M1 NM_004722.4(AP4M1):c.1284C>A (p.Phe428Leu) SNV Uncertain significance 647801 rs1443950530 GRCh37: 7:99704427-99704427
GRCh38: 7:100106804-100106804
34 AP4M1 NM_004722.4(AP4M1):c.1187C>T (p.Ser396Leu) SNV Uncertain significance 647894 rs772203028 GRCh37: 7:99704330-99704330
GRCh38: 7:100106707-100106707
35 AP4M1 NM_004722.4(AP4M1):c.136C>G (p.Pro46Ala) SNV Uncertain significance 659743 rs757747386 GRCh37: 7:99699580-99699580
GRCh38: 7:100101957-100101957
36 AP4M1 NM_004722.4(AP4M1):c.26C>T (p.Ser9Phe) SNV Uncertain significance 560945 rs751068724 GRCh37: 7:99699363-99699363
GRCh38: 7:100101740-100101740
37 AP4M1 NM_004722.4(AP4M1):c.611C>T (p.Ser204Phe) SNV Uncertain significance 575434 rs200722903 GRCh37: 7:99702501-99702501
GRCh38: 7:100104878-100104878
38 AP4M1 NM_004722.4(AP4M1):c.129C>A (p.Asp43Glu) SNV Uncertain significance 471065 rs760835879 GRCh37: 7:99699573-99699573
GRCh38: 7:100101950-100101950
39 AP4M1 NM_004722.4(AP4M1):c.364G>A (p.Val122Ile) SNV Uncertain significance 471066 rs572732241 GRCh37: 7:99701044-99701044
GRCh38: 7:100103421-100103421
40 AP4M1 NM_004722.4(AP4M1):c.851A>C (p.Tyr284Ser) SNV Uncertain significance 471069 rs1554380391 GRCh37: 7:99703084-99703084
GRCh38: 7:100105461-100105461
41 AP4M1 NM_004722.4(AP4M1):c.1357A>G (p.Ile453Val) SNV Uncertain significance 434246 rs777592786 GRCh37: 7:99704500-99704500
GRCh38: 7:100106877-100106877
42 AP4M1 NM_004722.4(AP4M1):c.847C>T (p.Arg283Trp) SNV Uncertain significance 538434 rs575096086 GRCh37: 7:99703080-99703080
GRCh38: 7:100105457-100105457
43 AP4M1 NM_004722.4(AP4M1):c.577G>A (p.Glu193Lys) SNV Uncertain significance 30264 rs387906838 GRCh37: 7:99701748-99701748
GRCh38: 7:100104125-100104125
44 AP4M1 NM_004722.4(AP4M1):c.1079C>A (p.Ala360Asp) SNV Uncertain significance 570275 rs145979929 GRCh37: 7:99704079-99704079
GRCh38: 7:100106456-100106456
45 AP4M1 NM_004722.4(AP4M1):c.188G>C (p.Gly63Ala) SNV Uncertain significance 574448 rs1362214871 GRCh37: 7:99700338-99700338
GRCh38: 7:100102715-100102715
46 AP4M1 NM_004722.4(AP4M1):c.929+5G>A SNV Uncertain significance 575767 rs1293317548 GRCh37: 7:99703167-99703167
GRCh38: 7:100105544-100105544
47 AP4M1 NM_004722.4(AP4M1):c.930G>A (p.Arg310=) SNV Likely benign 218652 rs141754568 GRCh37: 7:99703582-99703582
GRCh38: 7:100105959-100105959
48 AP4M1 NM_004722.4(AP4M1):c.1238G>T (p.Arg413Leu) SNV Likely benign 696382 rs757999633 GRCh37: 7:99704381-99704381
GRCh38: 7:100106758-100106758
49 AP4M1 NM_004722.4(AP4M1):c.1342G>A (p.Ala448Thr) SNV Likely benign 210207 rs147738731 GRCh37: 7:99704485-99704485
GRCh38: 7:100106862-100106862
50 AP4M1 NM_004722.4(AP4M1):c.544-6T>G SNV Likely benign 434241 rs372511561 GRCh37: 7:99701709-99701709
GRCh38: 7:100104086-100104086

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
11.64 AP4S1 AP4M1 AP4E1 AP4B1
2 11.03 AP4S1 AP4M1 AP4E1 AP4B1

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 Golgi apparatus GO:0005794 9.73 SPG21 ATG9A AP4S1 AP4M1 AP4E1 AP4B1
2 trans-Golgi network GO:0005802 9.54 ATG9A AP4M1 AP4B1
3 trans-Golgi network membrane GO:0032588 9.46 AP4S1 AP4M1 AP4E1 AP4B1
4 membrane coat GO:0030117 9.4 AP4E1 AP4B1
5 clathrin adaptor complex GO:0030131 9.32 AP4M1 AP4B1
6 endosome lumen GO:0031904 9.26 AP4S1 AP4M1 AP4E1 AP4B1
7 AP-4 adaptor complex GO:0030124 8.92 AP4S1 AP4M1 AP4E1 AP4B1

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 9.63 ATG9A AP5Z1 AP4S1 AP4M1 AP4E1 AP4B1
2 intracellular protein transport GO:0006886 9.62 AP4S1 AP4M1 AP4E1 AP4B1
3 vesicle-mediated transport GO:0016192 9.56 AP4S1 AP4M1 AP4E1 AP4B1
4 protein localization GO:0008104 9.26 AP4S1 AP4M1 AP4E1 AP4B1
5 protein targeting GO:0006605 8.92 AP4S1 AP4M1 AP4E1 AP4B1

Sources for Spastic Paraplegia 50, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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