SPG64
MCID: SPS157
MIFTS: 37

Spastic Paraplegia 64, Autosomal Recessive (SPG64)

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 64, Autosomal Recessive

MalaCards integrated aliases for Spastic Paraplegia 64, Autosomal Recessive:

Name: Spastic Paraplegia 64, Autosomal Recessive 57 72 29 6 70
Spg64 57 12 58 72
Autosomal Recessive Spastic Paraplegia Type 64 12 58
Hereditary Spastic Paraplegia 64 12 15
Paraplegia, Spastic, Type 64, Autosomal Recessive 39
Autosomal Recessive Spastic Paraplegia 64 12

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive spastic paraplegia type 64
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy;

OMIM®:

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

Miscellaneous:
two consanguineous families with 2 patients each have been reported (last curated august 2015)


HPO:

31
spastic paraplegia 64, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Spastic Paraplegia 64, Autosomal Recessive

UniProtKB/Swiss-Prot : 72 Spastic paraplegia 64, 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 64, Autosomal Recessive, also known as spg64, is related to spastic paraplegia 5a, autosomal recessive and paraplegia. An important gene associated with Spastic Paraplegia 64, Autosomal Recessive is ENTPD1 (Ectonucleoside Triphosphate Diphosphohydrolase 1). Affiliated tissues include skeletal muscle, and related phenotypes are spasticity and dysarthria

Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the ENTPD1 gene on chromosome 10q24.

More information from OMIM: 615683 PS303350

Related Diseases for Spastic Paraplegia 64, 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 64, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 61)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 5a, autosomal recessive 29.7 ZFYVE26 SPG11
2 paraplegia 29.4 ZFYVE26 SPG21 SPG11
3 spastic paraplegia 15, autosomal recessive 29.4 ZFYVE26 SPG21 SPG11
4 hereditary spastic paraplegia 28.7 ZFYVE26 SPG21 SPG11 PGAP1 ENTPD1
5 spastic paraplegia 29, autosomal dominant 10.0 ZFYVE26 SPG21
6 spastic paraplegia 25, autosomal recessive 10.0 ZFYVE26 SPG21
7 spastic paraplegia 19, autosomal dominant 10.0 ZFYVE26 SPG21
8 spastic paraplegia 37, autosomal dominant 10.0 ZFYVE26 SPG21
9 spastic paraplegia 34, x-linked 10.0 ZFYVE26 SPG21
10 charcot-marie-tooth disease, axonal, type 2r 9.9 ZFYVE26 SPG21
11 spastic paraplegia 16, x-linked 9.9 SPG21 SPG11
12 hereditary spastic paraplegia 72 9.9 ZFYVE26 SPG11
13 hereditary spastic paraplegia 30 9.9 SPG21 SPG11
14 neuropathy, hereditary sensory, type iic 9.9 SPG21 SPG11
15 charcot-marie-tooth disease, axonal, type 2t 9.9 ZFYVE26 SPG21
16 spastic paraplegia 32, autosomal recessive 9.9 SPG21 SPG11
17 spastic paraplegia 14, autosomal recessive 9.9 SPG21 SPG11
18 spastic paraplegia 82, autosomal recessive 9.9
19 spastic paraplegia 15 9.9
20 spastic paraplegia 5a 9.9
21 x-linked complicated spastic paraplegia type 1 9.9
22 spasticity 9.9
23 spastic paraplegia 54, autosomal recessive 9.9 SPG21 SPG11
24 amyotrophic lateral sclerosis type 5 9.9 ZFYVE26 SPG11
25 mast syndrome 9.9 SPG21 SPG11
26 spinocerebellar ataxia, autosomal recessive 20 9.8 ZFYVE26 SPG11
27 spastic paraplegia 20, autosomal recessive 9.8 ZFYVE26 SPG21
28 spastic paraplegia 13, autosomal dominant 9.8 SPG21 SPG11
29 spastic paraplegia 42, autosomal dominant 9.8 ZFYVE26 SPG11
30 spastic paraplegia 63, autosomal recessive 9.7 SPG21 SPG11 PGAP1
31 spastic paraplegia 44, autosomal recessive 9.7 SPG21 SPG11 PGAP1
32 spastic paraplegia 45, autosomal recessive 9.7 SPG21 SPG11 PGAP1
33 spastic paraplegia 26, autosomal recessive 9.7 SPG21 SPG11 PGAP1
34 hereditary spastic paraplegia 23 9.7 ZFYVE26 SPG21 SPG11
35 spastic paraplegia 50, autosomal recessive 9.7 ZFYVE26 SPG21 SPG11
36 spastic paraplegia 61, autosomal recessive 9.7 ZFYVE26 SPG21 SPG11
37 spastic paraplegia 49, autosomal recessive 9.7 ZFYVE26 SPG21 SPG11
38 spastic paraplegia 33, autosomal dominant 9.7 ZFYVE26 SPG21 SPG11
39 spastic paraplegia 18, autosomal recessive 9.7 ZFYVE26 SPG21 SPG11
40 spastic paraplegia 55, autosomal recessive 9.7 ZFYVE26 SPG21 SPG11
41 spastic paraplegia 11, autosomal recessive 9.7 ZFYVE26 SPG21 SPG11
42 spastic paraplegia 46, autosomal recessive 9.7 ZFYVE26 SPG21 SPG11
43 motor peripheral neuropathy 9.7 ZFYVE26 SPG11
44 spastic paraplegia 48, autosomal recessive 9.7 ZFYVE26 SPG21 SPG11
45 spastic paraplegia 12, autosomal dominant 9.7 ZFYVE26 SPG21 SPG11
46 spastic paraplegia 39, autosomal recessive 9.7 ZFYVE26 SPG21 SPG11
47 spastic paraplegia 6, autosomal dominant 9.7 ZFYVE26 SPG21 SPG11
48 spastic paraplegia 31, autosomal dominant 9.7 ZFYVE26 SPG21 SPG11
49 spastic paraplegia 47, autosomal recessive 9.7 ZFYVE26 SPG21 SPG11
50 spastic paraplegia 35, autosomal recessive 9.7 ZFYVE26 SPG21 SPG11

Graphical network of the top 20 diseases related to Spastic Paraplegia 64, Autosomal Recessive:



Diseases related to Spastic Paraplegia 64, Autosomal Recessive

Symptoms & Phenotypes for Spastic Paraplegia 64, Autosomal Recessive

Human phenotypes related to Spastic Paraplegia 64, Autosomal Recessive:

58 31 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0001257
2 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
3 gait disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0001288
4 microcephaly 58 31 very rare (1%) Frequent (79-30%) HP:0000252
5 delayed puberty 58 31 frequent (33%) Frequent (79-30%) HP:0000823
6 intellectual disability, borderline 58 31 frequent (33%) Frequent (79-30%) HP:0006889
7 aggressive behavior 58 31 frequent (33%) Frequent (79-30%) HP:0000718
8 areflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001284
9 abnormality of the cerebral white matter 58 31 very rare (1%) Occasional (29-5%) HP:0002500
10 talipes equinovarus 31 occasional (7.5%) HP:0001762
11 developmental cataract 31 occasional (7.5%) HP:0000519
12 spastic paraplegia 31 very rare (1%) HP:0001258
13 intellectual disability 31 HP:0001249
14 skeletal muscle atrophy 31 HP:0003202
15 intellectual disability, moderate 31 HP:0002342

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
intellectual disability, moderate
abnormal gait
dysarthria (in some patients)
can walk with support (some patients)
spasticity (family a)

Skeletal Feet:
pes equinovarus (1 patient)

Head And Neck Eyes:
congenital cataract (1 patient)

Endocrine Features:
delayed puberty (family a)

Muscle Soft Tissue:
amyotrophy

Head And Neck Head:
microcephaly (family a)

Neurologic Behavioral Psychiatric Manifestations:
aggressiveness (family a)

Clinical features from OMIM®:

615683 (Updated 05-Apr-2021)

Drugs & Therapeutics for Spastic Paraplegia 64, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 64, Autosomal Recessive

Genetic Tests for Spastic Paraplegia 64, Autosomal Recessive

Genetic tests related to Spastic Paraplegia 64, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Spastic Paraplegia 64, Autosomal Recessive 29 ENTPD1

Anatomical Context for Spastic Paraplegia 64, Autosomal Recessive

MalaCards organs/tissues related to Spastic Paraplegia 64, Autosomal Recessive:

40
Skeletal Muscle

Publications for Spastic Paraplegia 64, Autosomal Recessive

Articles related to Spastic Paraplegia 64, Autosomal Recessive:

# Title Authors PMID Year
1
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. 6 57
24482476 2014
2
Description of clinical features and genetic analysis of one ultra-rare (SPG64) and two common forms (SPG5A and SPG15) of hereditary spastic paraplegia families. 61
33771085 2021
3
A new case of spastic paraplegia type 64 due to a missense mutation in the ENTPD1 gene. 61
30652007 2019

Variations for Spastic Paraplegia 64, Autosomal Recessive

ClinVar genetic disease variations for Spastic Paraplegia 64, Autosomal Recessive:

6 (show all 31)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ENTPD1-AS1 , ENTPD1 NM_001776.6(ENTPD1):c.628G>A (p.Gly210Arg) SNV Pathogenic 101076 rs1566229309 GRCh37: 10:97605168-97605168
GRCh38: 10:95845411-95845411
2 ENTPD1-AS1 , ENTPD1 NM_001776.6(ENTPD1):c.520G>T (p.Glu174Ter) SNV Pathogenic 101077 rs587777200 GRCh37: 10:97604339-97604339
GRCh38: 10:95844582-95844582
3 ENTPD1-AS1 , ENTPD1 NM_001776.6(ENTPD1):c.770_771del (p.Gly257fs) Deletion Pathogenic 802625 rs1590126497 GRCh37: 10:97605309-97605310
GRCh38: 10:95845552-95845553
4 ENTPD1-AS1 , ENTPD1 NM_001776.6(ENTPD1):c.1327-2A>C SNV Pathogenic 997579 GRCh37: 10:97625932-97625932
GRCh38: 10:95866175-95866175
5 ENTPD1-AS1 , ENTPD1 NM_001776.6(ENTPD1):c.574-6_574-3del Deletion Likely pathogenic 802624 rs1412393736 GRCh37: 10:97605106-97605109
GRCh38: 10:95845349-95845352
6 ENTPD1-AS1 , ENTPD1 NM_001776.6(ENTPD1):c.325A>C (p.Met109Leu) SNV Conflicting interpretations of pathogenicity 859183 GRCh37: 10:97602163-97602163
GRCh38: 10:95842406-95842406
7 ENTPD1-AS1 , ENTPD1 NM_001776.6(ENTPD1):c.*7C>T SNV Uncertain significance 1030478 GRCh37: 10:97626147-97626147
GRCh38: 10:95866390-95866390
8 ENTPD1-AS1 , ENTPD1 NM_001776.6(ENTPD1):c.454G>T (p.Val152Leu) SNV Uncertain significance 1040141 GRCh37: 10:97604273-97604273
GRCh38: 10:95844516-95844516
9 ENTPD1-AS1 , ENTPD1 NM_001776.6(ENTPD1):c.144+10A>G SNV Uncertain significance 1040596 GRCh37: 10:97583131-97583131
GRCh38: 10:95823374-95823374
10 ENTPD1-AS1 , ENTPD1 NM_001776.6(ENTPD1):c.229G>A (p.Val77Met) SNV Uncertain significance 1003440 GRCh37: 10:97599532-97599532
GRCh38: 10:95839775-95839775
11 ENTPD1-AS1 , ENTPD1 NM_001776.6(ENTPD1):c.920T>A (p.Met307Lys) SNV Uncertain significance 965980 GRCh37: 10:97607309-97607309
GRCh38: 10:95847552-95847552
12 ENTPD1-AS1 , ENTPD1 NM_001776.6(ENTPD1):c.1342G>A (p.Ala448Thr) SNV Uncertain significance 1022844 GRCh37: 10:97625949-97625949
GRCh38: 10:95866192-95866192
13 ENTPD1-AS1 , ENTPD1 NM_001776.6(ENTPD1):c.1065G>T (p.Gly355=) SNV Uncertain significance 850551 GRCh37: 10:97607454-97607454
GRCh38: 10:95847697-95847697
14 ENTPD1-AS1 , ENTPD1 NM_001776.6(ENTPD1):c.1333G>C (p.Gly445Arg) SNV Uncertain significance 541701 rs145994698 GRCh37: 10:97625940-97625940
GRCh38: 10:95866183-95866183
15 ENTPD1-AS1 , ENTPD1 NM_001776.6(ENTPD1):c.441G>C (p.Arg147Ser) SNV Uncertain significance 958666 GRCh37: 10:97604260-97604260
GRCh38: 10:95844503-95844503
16 ENTPD1-AS1 , ENTPD1 NM_001776.6(ENTPD1):c.1050G>C (p.Leu350Phe) SNV Uncertain significance 541702 rs1004293638 GRCh37: 10:97607439-97607439
GRCh38: 10:95847682-95847682
17 ENTPD1-AS1 , ENTPD1 NM_001776.6(ENTPD1):c.25G>A (p.Val9Met) SNV Uncertain significance 374088 rs150772804 GRCh37: 10:97583002-97583002
GRCh38: 10:95823245-95823245
18 ENTPD1-AS1 , ENTPD1 NM_001776.6(ENTPD1):c.623C>A (p.Thr208Asn) SNV Uncertain significance 638354 rs776491594 GRCh37: 10:97605163-97605163
GRCh38: 10:95845406-95845406
19 ENTPD1-AS1 , ENTPD1 NM_001776.6(ENTPD1):c.1345G>A (p.Gly449Ser) SNV Uncertain significance 653193 rs761374158 GRCh37: 10:97625952-97625952
GRCh38: 10:95866195-95866195
20 ENTPD1-AS1 , ENTPD1 NM_001776.6(ENTPD1):c.1462C>G (p.Leu488Val) SNV Uncertain significance 654238 rs1434376009 GRCh37: 10:97626069-97626069
GRCh38: 10:95866312-95866312
21 ENTPD1-AS1 , ENTPD1 NM_001776.6(ENTPD1):c.329A>T (p.Glu110Val) SNV Uncertain significance 474861 rs751335015 GRCh37: 10:97602167-97602167
GRCh38: 10:95842410-95842410
22 ENTPD1-AS1 , ENTPD1 NM_001776.6(ENTPD1):c.177C>G (p.His59Gln) SNV Uncertain significance 474860 rs1555301559 GRCh37: 10:97599480-97599480
GRCh38: 10:95839723-95839723
23 ENTPD1-AS1 , ENTPD1 NM_001098175.2(ENTPD1):c.37+43773G>A SNV Uncertain significance 547899 rs192954755 GRCh37: 10:97515523-97515523
GRCh38: 10:95755766-95755766
24 ENTPD1-AS1 , ENTPD1 NM_001776.6(ENTPD1):c.401T>G (p.Met134Arg) SNV Uncertain significance 561218 rs1480686371 GRCh37: 10:97602239-97602239
GRCh38: 10:95842482-95842482
25 ENTPD1-AS1 , ENTPD1 NM_001776.6(ENTPD1):c.670G>A (p.Val224Ile) SNV Uncertain significance 848263 GRCh37: 10:97605210-97605210
GRCh38: 10:95845453-95845453
26 ENTPD1-AS1 , ENTPD1 NM_001776.6(ENTPD1):c.491A>G (p.Gln164Arg) SNV Uncertain significance 855823 GRCh37: 10:97604310-97604310
GRCh38: 10:95844553-95844553
27 ENTPD1-AS1 , ENTPD1 NM_001776.6(ENTPD1):c.972A>G (p.Gln324=) SNV Likely benign 704015 rs376745066 GRCh37: 10:97607361-97607361
GRCh38: 10:95847604-95847604
28 ENTPD1-AS1 , ENTPD1 NM_001776.6(ENTPD1):c.834C>T (p.Leu278=) SNV Likely benign 705302 rs780370619 GRCh37: 10:97607223-97607223
GRCh38: 10:95847466-95847466
29 ENTPD1-AS1 , ENTPD1 NM_001776.6(ENTPD1):c.1254C>T (p.Tyr418=) SNV Likely benign 706081 rs759450413 GRCh37: 10:97624546-97624546
GRCh38: 10:95864789-95864789
30 ENTPD1-AS1 , ENTPD1 NM_001776.6(ENTPD1):c.1020C>T (p.Tyr340=) SNV Benign 541703 rs149326648 GRCh37: 10:97607409-97607409
GRCh38: 10:95847652-95847652
31 ENTPD1-AS1 , ENTPD1 NM_001776.6(ENTPD1):c.877G>A (p.Val293Ile) SNV Benign 703843 rs3793744 GRCh37: 10:97607266-97607266
GRCh38: 10:95847509-95847509

UniProtKB/Swiss-Prot genetic disease variations for Spastic Paraplegia 64, Autosomal Recessive:

72
# Symbol AA change Variation ID SNP ID
1 ENTPD1 p.Gly210Arg VAR_071082 rs156622930

Expression for Spastic Paraplegia 64, Autosomal Recessive

Search GEO for disease gene expression data for Spastic Paraplegia 64, Autosomal Recessive.

Pathways for Spastic Paraplegia 64, Autosomal Recessive

GO Terms for Spastic Paraplegia 64, Autosomal Recessive

Biological processes related to Spastic Paraplegia 64, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleobase-containing small molecule catabolic process GO:0034656 8.96 ENTPD8 ENTPD1
2 nucleoside diphosphate catabolic process GO:0009134 8.62 ENTPD8 ENTPD1

Molecular functions related to Spastic Paraplegia 64, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoside-diphosphatase activity GO:0017110 9.48 ENTPD8 ENTPD1
2 uridine-diphosphatase activity GO:0045134 9.46 ENTPD8 ENTPD1
3 guanosine-diphosphatase activity GO:0004382 9.43 ENTPD8 ENTPD1
4 dGTP phosphohydrolase activity GO:0102491 9.4 ENTPD8 ENTPD1
5 8-oxo-dGTP phosphohydrolase activity GO:0102490 9.37 ENTPD8 ENTPD1
6 GTP phosphohydrolase activity GO:0102489 9.32 ENTPD8 ENTPD1
7 dTTP phosphohydrolase activity GO:0102488 9.26 ENTPD8 ENTPD1
8 dUTP phosphohydrolase activity GO:0102487 9.16 ENTPD8 ENTPD1
9 dCTP phosphohydrolase activity GO:0102486 8.96 ENTPD8 ENTPD1
10 dATP phosphohydrolase activity GO:0102485 8.62 ENTPD8 ENTPD1

Sources for Spastic Paraplegia 64, 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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