SPG47
MCID: SPS095
MIFTS: 44

Spastic Paraplegia 47, Autosomal Recessive (SPG47)

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 47, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 47, Autosomal Recessive:

Name: Spastic Paraplegia 47, Autosomal Recessive 57 72 29 13 6 70
Spg47 57 12 72
Hereditary Spastic Paraplegia 47 12 15
Cpsq5 12 72
Cerebral Palsy, Spastic Quadriplegic, 5, Formerly; Cpsq5, Formerly 57
Cerebral Palsy, Spastic Quadriplegic, 5, Formerly 57
Autosomal Recessive Spastic Paraplegia 47 12
Cerebral Palsy, Spastic Quadriplegic 5 72
Spastic Quadriplegic Cerebral Palsy 5 12
Cpsq5, Formerly 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
slowly progressive
onset at birth


HPO:

31
spastic paraplegia 47, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course slow progression congenital onset


Classifications:



Summaries for Spastic Paraplegia 47, Autosomal Recessive

UniProtKB/Swiss-Prot : 72 Spastic paraplegia 47, autosomal recessive: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. SPG47 is characterized by neonatal hypotonia that progresses to hypertonia and spasticity, and severe mental retardation with poor or absent speech development.

MalaCards based summary : Spastic Paraplegia 47, Autosomal Recessive, also known as spg47, is related to spastic paraplegia 47 and ap-4-associated hereditary spastic paraplegia, and has symptoms including seizures, waddling gait and muscle spasticity. An important gene associated with Spastic Paraplegia 47, Autosomal Recessive is AP4B1 (Adaptor Related Protein Complex 4 Subunit Beta 1), and among its related pathways/superpathways are Clathrin derived vesicle budding and Lysosome. Related phenotypes are high palate and wide nasal bridge

Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the AP4B1 gene on chromosome 1p13.

OMIM® : 57 Spastic paraplegia-47 is an autosomal recessive neurodegenerative disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Abou Jamra et al., 2011). (614066) (Updated 05-Apr-2021)

Related Diseases for Spastic Paraplegia 47, 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 47, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 82)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 47 30.4 DCLRE1B AP4B1-AS1 AP4B1
2 ap-4-associated hereditary spastic paraplegia 30.2 AP4S1 AP4M1 AP4E1 AP4B1-AS1 AP4B1
3 spastic paraparesis 29.9 SPG7 SPG11 SPAST
4 cerebral palsy 29.8 AP4S1 AP4M1 AP4E1 AP4B1
5 spasticity 29.8 WASHC5 SPG7 SPAST
6 complex hereditary spastic paraplegia 29.5 SPG7 SPG11 NIPA1
7 spastic paraplegia 11, autosomal recessive 29.1 ZFYVE26 SPG7 SPG21 SPG11 SPAST AP5Z1
8 spastic paraplegia 52, autosomal recessive 28.8 ZFYVE26 SPG21 SPG11 ATG9A AP5Z1 AP4S1
9 hereditary spastic paraplegia 51 28.5 ZFYVE26 SPG7 SPG21 SPG11 ATG9A AP5Z1
10 spastic paraplegia 50, autosomal recessive 28.5 ZFYVE26 SPG7 SPG21 SPG11 ATG9A AP5Z1
11 paraplegia 26.8 ZFYVE26 WASHC5 SPG7 SPG21 SPG11 SPAST
12 hereditary spastic paraplegia 26.5 ZFYVE26 WASHC5 SPG7 SPG21 SPG11 SPAST
13 horner's syndrome 10.3 AP4S1 AP4B1
14 hermansky-pudlak syndrome 2 10.2 AP4M1 AP4E1
15 charcot-marie-tooth disease, axonal, type 2r 10.2 ZFYVE26 SPG21
16 spastic paraplegia 7, autosomal recessive 10.1 SPG7 SPG11
17 spastic paraplegia 45, autosomal recessive 10.1 SPG21 SPG11 AP4E1
18 spastic paraplegia 73, autosomal dominant 10.1 SPG21 REEP1
19 spastic paraplegia 64, autosomal recessive 10.1 ZFYVE26 SPG21 SPG11
20 charcot-marie-tooth disease, axonal, type 2t 10.1 ZFYVE26 SPG21
21 quadriplegia 10.1 AP4S1 AP4M1 AP4E1 AP4B1
22 mast syndrome 10.1 SPG21 SPG11
23 spastic paraplegia 41, autosomal dominant 10.1 SPG21 SPAST
24 spastic paraplegia 29, autosomal dominant 10.1 ZFYVE26 WASHC5 SPG21
25 amyotrophic lateral sclerosis type 5 10.1 ZFYVE26 SPG11 AP5Z1
26 spastic paraplegia, optic atrophy, and neuropathy 10.1 WASHC5 AP5Z1 AP4S1
27 spastic paraplegia 19, autosomal dominant 10.1 ZFYVE26 WASHC5 SPG21
28 spastic paraplegia 63, autosomal recessive 10.0 SPG7 SPG21 SPG11 AP4E1
29 spinocerebellar ataxia, autosomal recessive 20 10.0 ZFYVE26 SPG11
30 spastic cerebral palsy 10.0 AP4S1 AP4B1
31 spastic paraplegia 49, autosomal recessive 10.0 ZFYVE26 SPG7 SPG21 SPG11
32 spastic paraplegia 55, autosomal recessive 10.0 ZFYVE26 SPG7 SPG21 SPG11
33 spastic paraplegia 57, autosomal recessive 9.9 SPG11 REEP1 ERLIN2
34 hereditary spastic paraplegia 23 9.9 ZFYVE26 WASHC5 SPG21 SPG11
35 nescav syndrome 9.9 ZFYVE26 REEP1 AP5Z1 AP4S1
36 spastic paraplegia 28, autosomal recessive 9.9 SPG7 SPG11 REEP1 AP5Z1
37 spastic paraplegia 53, autosomal recessive 9.9 WASHC5 AP5Z1 AP4S1 AP4E1 AP4B1
38 spastic paraplegia 25, autosomal recessive 9.9 ZFYVE26 WASHC5 SPG21 REEP1
39 spastic paraplegia 34, x-linked 9.9 ZFYVE26 WASHC5 SPG21 REEP1
40 spastic paraplegia 44, autosomal recessive 9.9 SPG21 SPG11 ERLIN2 AP5Z1
41 motor peripheral neuropathy 9.9 ZFYVE26 SPG7 SPG11 REEP1
42 spastic paraplegia 51, autosomal recessive 9.9
43 alacrima, achalasia, and mental retardation syndrome 9.9
44 47,xyy 9.9
45 febrile seizures 9.9
46 hypotonia 9.9
47 spastic paraplegia 14, autosomal recessive 9.9 SPG7 SPG21 SPG11 SPAST
48 spastic paraplegia 43, autosomal recessive 9.9 SPG11 SPAST ERLIN2
49 spastic diplegia 9.8 SPAST AP4S1 AP4M1 AP4E1 AP4B1
50 spastic paraplegia 37, autosomal dominant 9.8 ZFYVE26 SPG21 REEP1 ERLIN2

Graphical network of the top 20 diseases related to Spastic Paraplegia 47, Autosomal Recessive:



Diseases related to Spastic Paraplegia 47, Autosomal Recessive

Symptoms & Phenotypes for Spastic Paraplegia 47, Autosomal Recessive

Human phenotypes related to Spastic Paraplegia 47, Autosomal Recessive:

31 (show all 30)
# Description HPO Frequency HPO Source Accession
1 high palate 31 occasional (7.5%) HP:0000218
2 wide nasal bridge 31 occasional (7.5%) HP:0000431
3 pes planus 31 occasional (7.5%) HP:0001763
4 short stature 31 occasional (7.5%) HP:0004322
5 genu recurvatum 31 occasional (7.5%) HP:0002816
6 talipes equinovarus 31 occasional (7.5%) HP:0001762
7 spasticity 31 HP:0001257
8 hyperreflexia 31 HP:0001347
9 dysarthria 31 HP:0001260
10 coarse facial features 31 HP:0000280
11 global developmental delay 31 HP:0001263
12 delayed speech and language development 31 HP:0000750
13 microcephaly 31 HP:0000252
14 neonatal hypotonia 31 HP:0001319
15 flexion contracture 31 HP:0001371
16 intellectual disability, severe 31 HP:0010864
17 waddling gait 31 HP:0002515
18 wide mouth 31 HP:0000154
19 ventriculomegaly 31 HP:0002119
20 short philtrum 31 HP:0000322
21 bulbous nose 31 HP:0000414
22 dystonia 31 HP:0001332
23 spastic paraplegia 31 HP:0001258
24 babinski sign 31 HP:0003487
25 hypoplasia of the corpus callosum 31 HP:0002079
26 abnormality of the periventricular white matter 31 HP:0002518
27 inability to walk 31 HP:0002540
28 narrow forehead 31 HP:0000341
29 acetabular dysplasia 31 HP:0008807
30 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
spasticity
hyperreflexia
dysarthria
waddling gait
more
Head And Neck Head:
microcephaly

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

Skeletal:
contractures
joint hyperlaxity (1 family)

Neurologic Behavioral Psychiatric Manifestations:
stereotypic laughter
shy character (1 family)

Skeletal Limbs:
genu recurvatum (1 family)

Head And Neck Nose:
wide nasal bridge
bulbous nose

Growth Height:
short stature

Head And Neck Face:
short philtrum
coarse face
bitemporal narrowing
hypotonia face

Muscle Soft Tissue:
hypotonia, neonatal
hypertonia later

Skeletal Pelvis:
valgosity of the hips (1 family)
acetabular dysplasia (1 family)

Skeletal Feet:
pes planus (1 family)
club feet (1 family)

Clinical features from OMIM®:

614066 (Updated 05-Apr-2021)

UMLS symptoms related to Spastic Paraplegia 47, Autosomal Recessive:


seizures; waddling gait; muscle spasticity

MGI Mouse Phenotypes related to Spastic Paraplegia 47, Autosomal Recessive:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.32 AP4B1 AP4E1 AP5Z1 REEP1 SPAST SPG11

Drugs & Therapeutics for Spastic Paraplegia 47, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 47, Autosomal Recessive

Genetic Tests for Spastic Paraplegia 47, Autosomal Recessive

Genetic tests related to Spastic Paraplegia 47, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Spastic Paraplegia 47, Autosomal Recessive 29 AP4B1

Anatomical Context for Spastic Paraplegia 47, Autosomal Recessive

Publications for Spastic Paraplegia 47, Autosomal Recessive

Articles related to Spastic Paraplegia 47, Autosomal Recessive:

(show all 15)
# Title Authors PMID Year
1
Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) . 57 61 6
22290197 2012
2
A new locus (SPG47) maps to 1p13.2-1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum. 61 6 57
21440262 2011
3
An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome. 6 57
24781758 2015
4
Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: expansion of the facial and neuroimaging features. 57 6
24700674 2014
5
Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. 57 6
21620353 2011
6
Clinical and genetic characterization of AP4B1-associated SPG47. 6 61
29193663 2018
7
Whole exome sequencing uncovered highly penetrant recessive mutations for a spectrum of rare genetic pediatric diseases in Bangladesh. 61
33594065 2021
8
[AP4-assocated hereditary spastic paraplegias]. 61
33728854 2021
9
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia. 61
32979048 2020
10
AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant. 61
32166732 2020
11
Novel variants in AP4B1 cause spastic tetraplegia, moderate psychomotor development delay and febrile seizures in a Chinese patient: a case report. 61
32171285 2020
12
Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking. 61
31915823 2020
13
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
14
Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms. 61
23897027 2013
15
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. 61
22554690 2012

Variations for Spastic Paraplegia 47, Autosomal Recessive

ClinVar genetic disease variations for Spastic Paraplegia 47, Autosomal Recessive:

6 (show top 50) (show all 84)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 AP4B1 AP4B1, 3-BP INS, 487TAT Insertion Pathogenic 30662 GRCh37:
GRCh38:
2 AP4B1 AP4B1, 1-BP DEL, 664C Deletion Pathogenic 30663 GRCh37:
GRCh38:
3 AP4B1 AP4B1, 1-BP DEL, 869C Deletion Pathogenic 209982 GRCh37:
GRCh38:
4 AP4B1-AS1 , AP4B1 NM_001253852.3(AP4B1):c.894T>A (p.Cys298Ter) SNV Pathogenic 941894 GRCh37: 1:114442746-114442746
GRCh38: 1:113900124-113900124
5 AP4B1 NM_001253852.3(AP4B1):c.313del (p.Ala105fs) Deletion Pathogenic 157721 rs587783179 GRCh37: 1:114445285-114445285
GRCh38: 1:113902663-113902663
6 AP4B1 NM_001253852.3(AP4B1):c.311_312delinsC (p.Leu104fs) Indel Pathogenic 210195 rs797045244 GRCh37: 1:114445286-114445287
GRCh38: 1:113902664-113902665
7 AP4B1-AS1 , AP4B1 NM_001253852.3(AP4B1):c.1490_1503del (p.Arg497fs) Deletion Pathogenic 434228 rs1553257236 GRCh37: 1:114438887-114438900
GRCh38: 1:113896265-113896278
8 AP4B1 NM_001253852.3(AP4B1):c.114-2A>G SNV Pathogenic 930375 GRCh37: 1:114445486-114445486
GRCh38: 1:113902864-113902864
9 AP4B1-AS1 , AP4B1 NM_001253852.3(AP4B1):c.1510+2T>C SNV Pathogenic 932008 GRCh37: 1:114438878-114438878
GRCh38: 1:113896256-113896256
10 AP4B1-AS1 , AP4B1 NM_001253852.3(AP4B1):c.1177C>T (p.Arg393Ter) SNV Pathogenic 539527 rs374894037 GRCh37: 1:114441361-114441361
GRCh38: 1:113898739-113898739
11 AP4B1-AS1 , AP4B1 NM_001253852.3(AP4B1):c.1216C>T (p.Arg406Ter) SNV Pathogenic 422147 rs776976178 GRCh37: 1:114440548-114440548
GRCh38: 1:113897926-113897926
12 AP4B1-AS1 , AP4B1 NM_001253852.3(AP4B1):c.1160_1161del (p.Thr387fs) Deletion Pathogenic 156414 rs587779388 GRCh37: 1:114441377-114441378
GRCh38: 1:113898755-113898756
13 AP4B1-AS1 , AP4B1 NM_001253852.3(AP4B1):c.1510+1G>A SNV Pathogenic 1032461 GRCh37: 1:114438879-114438879
GRCh38: 1:113896257-113896257
14 AP4B1-AS1 , AP4B1 NM_001253852.3(AP4B1):c.1540C>T (p.Arg514Ter) SNV Likely pathogenic 1032462 GRCh37: 1:114438631-114438631
GRCh38: 1:113896009-113896009
15 AP4B1 NM_001253852.3(AP4B1):c.338+5G>A SNV Likely pathogenic 434229 rs1019204290 GRCh37: 1:114445255-114445255
GRCh38: 1:113902633-113902633
16 AP4B1-AS1 , AP4B1 NM_001253852.3(AP4B1):c.1544del (p.Gly515fs) Deletion Likely pathogenic 975909 GRCh37: 1:114438627-114438627
GRCh38: 1:113896005-113896005
17 AP4B1-AS1 , AP4B1 NM_001253852.3(AP4B1):c.755T>C (p.Val252Ala) SNV Conflicting interpretations of pathogenicity 386852 rs141417436 GRCh37: 1:114442885-114442885
GRCh38: 1:113900263-113900263
18 AP4B1 NM_001253852.3(AP4B1):c.505C>A (p.Arg169Ser) SNV Uncertain significance 1002684 GRCh37: 1:114443970-114443970
GRCh38: 1:113901348-113901348
19 AP4B1 NM_001253852.3(AP4B1):c.373A>G (p.Ile125Val) SNV Uncertain significance 1003759 GRCh37: 1:114444473-114444473
GRCh38: 1:113901851-113901851
20 AP4B1 NM_001253852.3(AP4B1):c.358T>A (p.Tyr120Asn) SNV Uncertain significance 568438 rs138880168 GRCh37: 1:114444488-114444488
GRCh38: 1:113901866-113901866
21 AP4B1 NM_001253852.3(AP4B1):c.159G>A (p.Met53Ile) SNV Uncertain significance 659688 rs778624334 GRCh37: 1:114445439-114445439
GRCh38: 1:113902817-113902817
22 AP4B1 NM_001253852.3(AP4B1):c.247G>C (p.Ala83Pro) SNV Uncertain significance 946401 GRCh37: 1:114445351-114445351
GRCh38: 1:113902729-113902729
23 AP4B1-AS1 , AP4B1 NM_001253852.3(AP4B1):c.1922C>T (p.Ala641Val) SNV Uncertain significance 955294 GRCh37: 1:114437985-114437985
GRCh38: 1:113895363-113895363
24 AP4B1 NM_001253852.3(AP4B1):c.198G>C (p.Lys66Asn) SNV Uncertain significance 1014348 GRCh37: 1:114445400-114445400
GRCh38: 1:113902778-113902778
25 AP4B1 NM_001253852.3(AP4B1):c.211T>C (p.Tyr71His) SNV Uncertain significance 1016510 GRCh37: 1:114445387-114445387
GRCh38: 1:113902765-113902765
26 AP4B1 NC_000001.10:g.(?_114437677)_(114443032_?)dup Duplication Uncertain significance 1024827 GRCh37: 1:114437677-114443032
GRCh38:
27 AP4B1 NM_001253852.3(AP4B1):c.175A>G (p.Thr59Ala) SNV Uncertain significance 472194 rs151293980 GRCh37: 1:114445423-114445423
GRCh38: 1:113902801-113902801
28 AP4B1-AS1 , AP4B1 NM_001253852.3(AP4B1):c.1497G>T (p.Leu499Phe) SNV Uncertain significance 663108 rs147573619 GRCh37: 1:114438893-114438893
GRCh38: 1:113896271-113896271
29 DCLRE1B , AP4B1 NM_001253852.3(AP4B1):c.13G>A (p.Gly5Ser) SNV Uncertain significance 854203 GRCh37: 1:114447327-114447327
GRCh38: 1:113904705-113904705
30 AP4B1-AS1 , AP4B1 NM_001253852.3(AP4B1):c.1466C>G (p.Ala489Gly) SNV Uncertain significance 1028529 GRCh37: 1:114438924-114438924
GRCh38: 1:113896302-113896302
31 AP4B1-AS1 , AP4B1 NM_001253852.3(AP4B1):c.1499A>G (p.Tyr500Cys) SNV Uncertain significance 1028530 GRCh37: 1:114438891-114438891
GRCh38: 1:113896269-113896269
32 AP4B1 NM_001253852.3(AP4B1):c.388C>T (p.Arg130Trp) SNV Uncertain significance 1028531 GRCh37: 1:114444458-114444458
GRCh38: 1:113901836-113901836
33 AP4B1-AS1 , AP4B1 NM_001253852.3(AP4B1):c.671G>A (p.Arg224His) SNV Uncertain significance 1028532 GRCh37: 1:114442969-114442969
GRCh38: 1:113900347-113900347
34 AP4B1-AS1 , AP4B1 NM_001253852.3(AP4B1):c.1178G>A (p.Arg393Gln) SNV Uncertain significance 472193 rs753638648 GRCh37: 1:114441360-114441360
GRCh38: 1:113898738-113898738
35 AP4B1-AS1 , AP4B1 NM_001253852.3(AP4B1):c.1258T>C (p.Cys420Arg) SNV Uncertain significance 845715 GRCh37: 1:114440506-114440506
GRCh38: 1:113897884-113897884
36 AP4B1-AS1 , AP4B1 NM_001253852.3(AP4B1):c.1115-2A>G SNV Uncertain significance 975957 GRCh37: 1:114441425-114441425
GRCh38: 1:113898803-113898803
37 AP4B1 NM_001253852.3(AP4B1):c.577G>A (p.Val193Ile) SNV Uncertain significance 157724 rs376478015 GRCh37: 1:114443898-114443898
GRCh38: 1:113901276-113901276
38 AP4B1-AS1 , AP4B1 NM_001253852.3(AP4B1):c.1082C>T (p.Ala361Val) SNV Uncertain significance 434225 rs143389123 GRCh37: 1:114442558-114442558
GRCh38: 1:113899936-113899936
39 AP4B1-AS1 , AP4B1 NM_001253852.3(AP4B1):c.1163A>C (p.Glu388Ala) SNV Uncertain significance 952280 GRCh37: 1:114441375-114441375
GRCh38: 1:113898753-113898753
40 AP4B1 NM_001253852.3(AP4B1):c.215T>C (p.Met72Thr) SNV Uncertain significance 575639 rs566369623 GRCh37: 1:114445383-114445383
GRCh38: 1:113902761-113902761
41 AP4B1-AS1 , AP4B1 NM_001253852.3(AP4B1):c.616C>G (p.Arg206Gly) SNV Uncertain significance 577788 rs762612591 GRCh37: 1:114443859-114443859
GRCh38: 1:113901237-113901237
42 AP4B1 NM_001253852.3(AP4B1):c.579_581del (p.Val194del) Deletion Uncertain significance 581795 rs750563520 GRCh37: 1:114443894-114443896
GRCh38: 1:113901272-113901274
43 AP4B1 NM_001253852.3(AP4B1):c.576_577delinsTA (p.Val193Ile) Indel Uncertain significance 539526 rs1553259191 GRCh37: 1:114443898-114443899
GRCh38: 1:113901276-113901277
44 AP4B1 NM_001253852.3(AP4B1):c.319C>T (p.Arg107Trp) SNV Uncertain significance 828196 rs74361335 GRCh37: 1:114445279-114445279
GRCh38: 1:113902657-113902657
45 AP4B1 NM_001253852.3(AP4B1):c.217T>A (p.Cys73Ser) SNV Uncertain significance 240688 rs552888524 GRCh37: 1:114445381-114445381
GRCh38: 1:113902759-113902759
46 AP4B1-AS1 , AP4B1 NM_001253852.3(AP4B1):c.1744G>A (p.Glu582Lys) SNV Uncertain significance 240687 rs779319072 GRCh37: 1:114438427-114438427
GRCh38: 1:113895805-113895805
47 AP4B1-AS1 , AP4B1 NM_001253852.3(AP4B1):c.1643C>T (p.Pro548Leu) SNV Uncertain significance 408759 rs149723440 GRCh37: 1:114438528-114438528
GRCh38: 1:113895906-113895906
48 AP4B1-AS1 , AP4B1 NM_001253852.3(AP4B1):c.787G>A (p.Ala263Thr) SNV Uncertain significance 408760 rs760880631 GRCh37: 1:114442853-114442853
GRCh38: 1:113900231-113900231
49 AP4B1 NM_001253852.3(AP4B1):c.112A>G (p.Arg38Gly) SNV Uncertain significance 472192 rs773391519 GRCh37: 1:114447228-114447228
GRCh38: 1:113904606-113904606
50 AP4B1-AS1 , AP4B1 NM_001253852.3(AP4B1):c.2082A>T (p.Leu694Phe) SNV Uncertain significance 472195 rs1553256829 GRCh37: 1:114437825-114437825
GRCh38: 1:113895203-113895203

Expression for Spastic Paraplegia 47, Autosomal Recessive

Search GEO for disease gene expression data for Spastic Paraplegia 47, Autosomal Recessive.

Pathways for Spastic Paraplegia 47, Autosomal Recessive

Pathways related to Spastic Paraplegia 47, 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 47, Autosomal Recessive

Cellular components related to Spastic Paraplegia 47, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 10 WASHC5 SPAST REEP4 REEP2 REEP1 ERLIN2
2 endoplasmic reticulum membrane GO:0005789 9.91 SPAST REEP4 REEP2 REEP1 ERLIN2 ATG9A
3 endosome GO:0005768 9.8 WASHC5 SPG21 SPAST NIPA1 ATG9A AP4M1
4 trans-Golgi network membrane GO:0032588 9.56 AP4S1 AP4M1 AP4E1 AP4B1
5 cytoplasmic microtubule GO:0005881 9.54 REEP4 REEP2 REEP1
6 membrane coat GO:0030117 9.48 AP4E1 AP4B1
7 endosome lumen GO:0031904 9.46 AP4S1 AP4M1 AP4E1 AP4B1
8 clathrin adaptor complex GO:0030131 9.4 AP4M1 AP4B1
9 endoplasmic reticulum tubular network GO:0071782 9.26 SPAST REEP4 REEP2 REEP1
10 AP-4 adaptor complex GO:0030124 8.92 AP4S1 AP4M1 AP4E1 AP4B1

Biological processes related to Spastic Paraplegia 47, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.7 WASHC5 ATG9A AP5Z1 AP4S1 AP4M1 AP4E1
2 intracellular protein transport GO:0006886 9.67 AP4S1 AP4M1 AP4E1 AP4B1
3 vesicle-mediated transport GO:0016192 9.62 AP4S1 AP4M1 AP4E1 AP4B1
4 protein localization GO:0008104 9.56 AP4S1 AP4M1 AP4E1 AP4B1
5 anterograde axonal transport GO:0008089 9.4 SPG7 SPAST
6 endoplasmic reticulum tubular network organization GO:0071786 9.13 REEP4 REEP2 REEP1
7 protein targeting GO:0006605 8.92 AP4S1 AP4M1 AP4E1 AP4B1

Molecular functions related to Spastic Paraplegia 47, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 microtubule binding GO:0008017 8.92 SPAST REEP4 REEP2 REEP1

Sources for Spastic Paraplegia 47, 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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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