SPG63
MCID: SPS228
MIFTS: 36

Spastic Paraplegia 63, Autosomal Recessive (SPG63)

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 63, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 63, Autosomal Recessive:

Name: Spastic Paraplegia 63, Autosomal Recessive 57 72 29 6 70
Spg63 57 12 58 72
Hereditary Spastic Paraplegia 63 12 15
Spastic Paraplegia 63 57 12
Paraplegia, Spastic, Type 63, Autosomal Recessive 39
Autosomal Recessive Spastic Paraplegia Type 63 58
Autosomal Recessive Spastic Paraplegia 63 12

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive spastic paraplegia type 63
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM®:

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

Miscellaneous:
based on 2 cousins in a consanguineous family (last curated august 2015)


HPO:

31
spastic paraplegia 63, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110814
OMIM® 57 615686
OMIM Phenotypic Series 57 PS303350
MeSH 44 D015419
ICD10 32 G11.4
ICD10 via Orphanet 33 G11.4
Orphanet 58 ORPHA401805
UMLS 70 C3810295

Summaries for Spastic Paraplegia 63, Autosomal Recessive

UniProtKB/Swiss-Prot : 72 Spastic paraplegia 63, 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 63, Autosomal Recessive, also known as spg63, is related to paraplegia and spastic paraplegia 61, autosomal recessive. An important gene associated with Spastic Paraplegia 63, Autosomal Recessive is AMPD2 (Adenosine Monophosphate Deaminase 2). Affiliated tissues include eye and skeletal muscle, and related phenotypes are hyperreflexia and short stature

Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the AMPD2 gene on chromosome 1p13.

More information from OMIM: 615686 PS303350

Related Diseases for Spastic Paraplegia 63, 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 63, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 66)
# Related Disease Score Top Affiliating Genes
1 paraplegia 28.3 SPG7 SPG21 SPG11 MTRFR CYP7B1 AP4E1
2 spastic paraplegia 61, autosomal recessive 10.2 SPG21 SPG11
3 spastic paraplegia 33, autosomal dominant 10.2 SPG21 SPG11
4 spastic paraplegia 12, autosomal dominant 10.2 SPG21 SPG11
5 mast syndrome 10.2 SPG21 SPG11
6 hereditary spastic paraplegia 72 10.1 SPG7 SPG11
7 spastic paraplegia 28, autosomal recessive 10.1 SPG7 SPG11
8 spastic paraplegia 7, autosomal recessive 10.1 SPG7 SPG11
9 anterior horn cell disease 10.1 EXOSC3 AMPD2
10 spastic paraplegia 20, autosomal recessive 10.1 SPG7 SPG21
11 spastic paraplegia 64, autosomal recessive 10.1 SPG21 SPG11 PGAP1
12 spastic paraplegia 42, autosomal dominant 10.1 SPG7 SPG11
13 spastic paraplegia 26, autosomal recessive 10.1 SPG21 SPG11 PGAP1
14 pontocerebellar hypoplasia, type 9 10.0
15 pontocerebellar hypoplasia 10.0
16 spastic paraplegia 16, x-linked 10.0 SPG7 SPG21 SPG11
17 hereditary spastic paraplegia 30 10.0 SPG7 SPG21 SPG11
18 spastic paraplegia 14, autosomal recessive 10.0 SPG7 SPG21 SPG11
19 spastic paraplegia 49, autosomal recessive 10.0 SPG7 SPG21 SPG11
20 spastic paraplegia 18, autosomal recessive 10.0 SPG7 SPG21 SPG11
21 spastic paraplegia 54, autosomal recessive 10.0 SPG7 SPG21 SPG11
22 spastic paraplegia 11, autosomal recessive 10.0 SPG7 SPG21 SPG11
23 spastic paraplegia 48, autosomal recessive 10.0 SPG7 SPG21 SPG11
24 spastic paraplegia 6, autosomal dominant 10.0 SPG7 SPG21 SPG11
25 spastic paraplegia 31, autosomal dominant 10.0 SPG7 SPG21 SPG11
26 spastic paraplegia 13, autosomal dominant 10.0 SPG7 SPG21 SPG11
27 spastic paraplegia 8, autosomal dominant 10.0 SPG7 SPG21 SPG11
28 spastic paraplegia 10, autosomal dominant 10.0 SPG7 SPG21 SPG11
29 spastic paraplegia 17, autosomal dominant 10.0 SPG7 SPG21 SPG11
30 spastic paraplegia 3, autosomal dominant 10.0 SPG7 SPG11
31 spinocerebellar ataxia, autosomal recessive 24 10.0 SPG7 CYP7B1
32 charcot-marie-tooth disease, axonal, type 2h 10.0 SPG21 MTRFR
33 spastic paraparesis 10.0 SPG7 SPG11
34 charcot-marie-tooth disease, recessive intermediate d 10.0 SPG21 MTRFR
35 charcot-marie-tooth disease type 2a2a 9.9 SPG21 MTRFR
36 charcot-marie-tooth disease, axonal, type 2r 9.9 SPG21 MTRFR
37 complex hereditary spastic paraplegia 9.9 SPG7 SPG11 CYP7B1
38 spastic paraplegia 5a, autosomal recessive 9.9 SPG7 SPG11 CYP7B1
39 charcot-marie-tooth disease, axonal, type 2t 9.9 SPG21 MTRFR
40 charcot-marie-tooth disease, axonal, type 2p 9.9 SPG21 MTRFR
41 behr syndrome 9.9 SPG7 MTRFR
42 neuropathy, hereditary motor and sensory, type via, with optic atrophy 9.9 SPG7 MTRFR
43 charcot-marie-tooth disease, axonal, type 2b2 9.8 SPG21 MTRFR
44 spastic paraplegia 44, autosomal recessive 9.8 SPG21 SPG11 PGAP1 CYP7B1
45 motor peripheral neuropathy 9.8 SPG7 SPG11
46 hereditary spastic paraplegia 23 9.8 ZFR SPG21 SPG11 CYP7B1
47 motor neuron disease 9.8 ZFR PGAP1 AMPD2
48 ocular motility disease 9.8 SPG7 MTRFR
49 spastic paraplegia 46, autosomal recessive 9.8 SPG7 SPG21 SPG11 CYP7B1
50 spastic paraplegia 39, autosomal recessive 9.8 SPG7 SPG21 SPG11 CYP7B1

Graphical network of the top 20 diseases related to Spastic Paraplegia 63, Autosomal Recessive:



Diseases related to Spastic Paraplegia 63, Autosomal Recessive

Symptoms & Phenotypes for Spastic Paraplegia 63, Autosomal Recessive

Human phenotypes related to Spastic Paraplegia 63, Autosomal Recessive:

58 31 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperreflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001347
2 short stature 58 31 occasional (7.5%) Frequent (79-30%) HP:0004322
3 skeletal muscle atrophy 58 31 occasional (7.5%) Frequent (79-30%) HP:0003202
4 decreased body weight 58 31 frequent (33%) Frequent (79-30%) HP:0004325
5 delayed gross motor development 58 31 frequent (33%) Frequent (79-30%) HP:0002194
6 scissor gait 58 31 frequent (33%) Frequent (79-30%) HP:0012407
7 abnormality of the periventricular white matter 58 31 occasional (7.5%) Occasional (29-5%) HP:0002518
8 hypoplasia of the corpus callosum 31 occasional (7.5%) HP:0002079
9 spasticity 58 Frequent (79-30%)
10 hypertonia 58 Frequent (79-30%)
11 spastic paraplegia 31 HP:0001258
12 delayed ability to walk 31 HP:0031936

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Peripheral Nervous System:
spasticity, mild
delayed walking
normal cognition
increased deep tendon reflexes
scissors gait
more
Growth Height:
short stature (1 patient)

Muscle Soft Tissue:
amyotrophy (1 patient)

Neurologic Central Nervous System:
thin corpus callosum (1 patient)
periventricular deep white matter changes (1 patient)

Growth Weight:
underweight (1 patient)

Clinical features from OMIM®:

615686 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Spastic Paraplegia 63, Autosomal Recessive:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.23 AMPD2 AP4E1 EXOSC3 IPPK PGAP1 SPG11

Drugs & Therapeutics for Spastic Paraplegia 63, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 63, Autosomal Recessive

Genetic Tests for Spastic Paraplegia 63, Autosomal Recessive

Genetic tests related to Spastic Paraplegia 63, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Spastic Paraplegia 63, Autosomal Recessive 29 AMPD2

Anatomical Context for Spastic Paraplegia 63, Autosomal Recessive

MalaCards organs/tissues related to Spastic Paraplegia 63, Autosomal Recessive:

40
Eye, Skeletal Muscle

Publications for Spastic Paraplegia 63, Autosomal Recessive

Articles related to Spastic Paraplegia 63, Autosomal Recessive:

# Title Authors PMID Year
1
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. 6 57
24482476 2014
2
CUGC for pontocerebellar hypoplasia type 9 and spastic paraplegia-63. 61
30089829 2019
3
Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9. 61
29463858 2018

Variations for Spastic Paraplegia 63, Autosomal Recessive

ClinVar genetic disease variations for Spastic Paraplegia 63, Autosomal Recessive:

6 (show all 41)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 AMPD2 NM_001368809.2(AMPD2):c.157del (p.Cys53fs) Deletion Pathogenic 101075 rs587777769 GRCh37: 1:110167990-110167990
GRCh38: 1:109625368-109625368
2 AMPD2 NM_001368809.2(AMPD2):c.106C>G (p.Leu36Val) SNV Uncertain significance 474997 rs749918422 GRCh37: 1:110167939-110167939
GRCh38: 1:109625317-109625317
3 AMPD2 NM_001368809.2(AMPD2):c.23C>G (p.Ser8Cys) SNV Uncertain significance 474995 rs147463318 GRCh37: 1:110163820-110163820
GRCh38: 1:109621198-109621198
4 AMPD2 NM_001368809.2(AMPD2):c.971G>T (p.Arg324Leu) SNV Uncertain significance 571097 rs746332433 GRCh37: 1:110170416-110170416
GRCh38: 1:109627794-109627794
5 AMPD2 NM_001368809.2(AMPD2):c.1207C>T (p.Arg403Trp) SNV Uncertain significance 574248 rs373128067 GRCh37: 1:110170831-110170831
GRCh38: 1:109628209-109628209
6 AMPD2 NM_001368809.2(AMPD2):c.1192C>T (p.Arg398Cys) SNV Uncertain significance 578069 rs570605098 GRCh37: 1:110170816-110170816
GRCh38: 1:109628194-109628194
7 AMPD2 NM_001368809.2(AMPD2):c.-75G>T SNV Uncertain significance 649488 rs1025210705 GRCh37: 1:110163723-110163723
GRCh38: 1:109621101-109621101
8 AMPD2 NM_001368809.2(AMPD2):c.178G>A (p.Asp60Asn) SNV Uncertain significance 655115 rs754712604 GRCh37: 1:110168011-110168011
GRCh38: 1:109625389-109625389
9 AMPD2 NM_001368809.2(AMPD2):c.1328T>C (p.Ile443Thr) SNV Uncertain significance 665782 rs149171366 GRCh37: 1:110171038-110171038
GRCh38: 1:109628416-109628416
10 AMPD2 NM_001368809.2(AMPD2):c.134G>A (p.Arg45Gln) SNV Uncertain significance 940457 GRCh37: 1:110167967-110167967
GRCh38: 1:109625345-109625345
11 AMPD2 NM_001368809.2(AMPD2):c.1778C>T (p.Ala593Val) SNV Uncertain significance 944582 GRCh37: 1:110172028-110172028
GRCh38: 1:109629406-109629406
12 AMPD2 NM_001368809.2(AMPD2):c.1072A>G (p.Ile358Val) SNV Uncertain significance 864592 GRCh37: 1:110170517-110170517
GRCh38: 1:109627895-109627895
13 AMPD2 NM_001368809.2(AMPD2):c.1871G>T (p.Gly624Val) SNV Uncertain significance 972414 GRCh37: 1:110172426-110172426
GRCh38: 1:109629804-109629804
14 AMPD2 NM_001368809.2(AMPD2):c.175C>T (p.Leu59Phe) SNV Uncertain significance 1024841 GRCh37: 1:110168008-110168008
GRCh38: 1:109625386-109625386
15 AMPD2 NM_001368809.2(AMPD2):c.1522C>T (p.Arg508Cys) SNV Uncertain significance 939658 GRCh37: 1:110171379-110171379
GRCh38: 1:109628757-109628757
16 AMPD2 NM_001368809.2(AMPD2):c.288G>C (p.Glu96Asp) SNV Uncertain significance 951532 GRCh37: 1:110168349-110168349
GRCh38: 1:109625727-109625727
17 AMPD2 NM_001368809.2(AMPD2):c.2039C>T (p.Pro680Leu) SNV Uncertain significance 961257 GRCh37: 1:110172910-110172910
GRCh38: 1:109630288-109630288
18 AMPD2 NM_001368809.2(AMPD2):c.928G>A (p.Ala310Thr) SNV Uncertain significance 1027846 GRCh37: 1:110170118-110170118
GRCh38: 1:109627496-109627496
19 AMPD2 NM_001368809.2(AMPD2):c.2009A>G (p.Tyr670Cys) SNV Uncertain significance 1027848 GRCh37: 1:110172880-110172880
GRCh38: 1:109630258-109630258
20 AMPD2 NM_001368809.2(AMPD2):c.1103C>T (p.Ser368Leu) SNV Uncertain significance 1033798 GRCh37: 1:110170727-110170727
GRCh38: 1:109628105-109628105
21 AMPD2 NM_001368809.2(AMPD2):c.428A>G (p.Tyr143Cys) SNV Uncertain significance 863422 GRCh37: 1:110168946-110168946
GRCh38: 1:109626324-109626324
22 AMPD2 NM_001368809.2(AMPD2):c.852CGA[1] (p.Asp285del) Microsatellite Uncertain significance 956565 GRCh37: 1:110169930-110169932
GRCh38: 1:109627308-109627310
23 AMPD2 NM_001368809.2(AMPD2):c.8C>T (p.Ser3Phe) SNV Uncertain significance 390606 rs763310916 GRCh37: 1:110163805-110163805
GRCh38: 1:109621183-109621183
24 AMPD2 NM_001368809.2(AMPD2):c.143C>T (p.Pro48Leu) SNV Uncertain significance 1050854 GRCh37: 1:110167976-110167976
GRCh38: 1:109625354-109625354
25 AMPD2 NM_001368809.2(AMPD2):c.1407+3A>G SNV Likely benign 434144 rs41280332 GRCh37: 1:110171120-110171120
GRCh38: 1:109628498-109628498
26 AMPD2 NM_001368809.2(AMPD2):c.1992C>T (p.Val664=) SNV Likely benign 704805 rs143163487 GRCh37: 1:110172863-110172863
GRCh38: 1:109630241-109630241
27 AMPD2 NM_001368809.2(AMPD2):c.-112G>A SNV Likely benign 706538 rs759948714 GRCh37: 1:110163686-110163686
GRCh38: 1:109621064-109621064
28 AMPD2 NM_001368809.2(AMPD2):c.582C>T (p.Leu194=) SNV Likely benign 706575 rs144177097 GRCh37: 1:110169398-110169398
GRCh38: 1:109626776-109626776
29 AMPD2 NM_001368809.2(AMPD2):c.72G>A (p.Gln24=) SNV Likely benign 474996 rs143354905 GRCh37: 1:110163869-110163869
GRCh38: 1:109621247-109621247
30 AMPD2 NM_001368809.2(AMPD2):c.353+10G>A SNV Likely benign 541841 rs1269768577 GRCh37: 1:110168424-110168424
GRCh38: 1:109625802-109625802
31 AMPD2 NM_001368809.2(AMPD2):c.537G>A (p.Pro179=) SNV Likely benign 541842 rs776483432 GRCh37: 1:110169353-110169353
GRCh38: 1:109626731-109626731
32 AMPD2 NM_001368809.2(AMPD2):c.633C>G (p.Thr211=) SNV Likely benign 474998 rs141818976 GRCh37: 1:110169449-110169449
GRCh38: 1:109626827-109626827
33 AMPD2 NM_001368809.2(AMPD2):c.27C>A (p.Gly9=) SNV Likely benign 731965 rs141792341 GRCh37: 1:110163824-110163824
GRCh38: 1:109621202-109621202
34 AMPD2 NM_001368809.2(AMPD2):c.223-4C>T SNV Benign 210137 rs116223306 GRCh37: 1:110168280-110168280
GRCh38: 1:109625658-109625658
35 AMPD2 NM_001368809.2(AMPD2):c.1242C>T (p.Tyr414=) SNV Benign 210136 rs114727970 GRCh37: 1:110170866-110170866
GRCh38: 1:109628244-109628244
36 AMPD2 NM_001368809.2(AMPD2):c.1104G>A (p.Ser368=) SNV Benign 474994 rs34030799 GRCh37: 1:110170728-110170728
GRCh38: 1:109628106-109628106
37 AMPD2 NM_001368809.2(AMPD2):c.1587C>A (p.Thr529=) SNV Benign 703122 rs35337955 GRCh37: 1:110171746-110171746
GRCh38: 1:109629124-109629124
38 AMPD2 NM_001368809.2(AMPD2):c.708T>G (p.Pro236=) SNV Benign 703840 rs114624650 GRCh37: 1:110169524-110169524
GRCh38: 1:109626902-109626902
39 AMPD2 NM_001368809.2(AMPD2):c.1080+9T>C SNV Benign 703857 rs202160763 GRCh37: 1:110170534-110170534
GRCh38: 1:109627912-109627912
40 AMPD2 NM_001368809.2(AMPD2):c.1716C>T (p.Ser572=) SNV Benign 704004 rs116415979 GRCh37: 1:110171966-110171966
GRCh38: 1:109629344-109629344
41 AMPD2 NM_001368809.2(AMPD2):c.-52C>G SNV Benign 706956 rs570541266 GRCh37: 1:110163746-110163746
GRCh38: 1:109621124-109621124

Expression for Spastic Paraplegia 63, Autosomal Recessive

Search GEO for disease gene expression data for Spastic Paraplegia 63, Autosomal Recessive.

Pathways for Spastic Paraplegia 63, Autosomal Recessive

GO Terms for Spastic Paraplegia 63, Autosomal Recessive

Sources for Spastic Paraplegia 63, 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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