MCID: SPS228
MIFTS: 26

Spastic Paraplegia 63, Autosomal Recessive

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Eye diseases, Gastrointestinal diseases, Bone diseases, Mental diseases, Metabolic 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 75 29 6 73
Spg63 57 12 59 75
Hereditary Spastic Paraplegia 63 12 15
Spastic Paraplegia 63 57 12
Paraplegia, Spastic, Type 63, Autosomal Recessive 40
Autosomal Recessive Spastic Paraplegia Type 63 59
Autosomal Recessive Spastic Paraplegia 63 12

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive spastic paraplegia type 63
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
spastic paraplegia 63, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Spastic Paraplegia 63, Autosomal Recessive

UniProtKB/Swiss-Prot : 75 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 pontocerebellar hypoplasia, type 9. An important gene associated with Spastic Paraplegia 63, Autosomal Recessive is AMPD2 (Adenosine Monophosphate Deaminase 2). Affiliated tissues include skeletal muscle, and related phenotypes are spasticity and hyperreflexia

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

Description from OMIM: 615686

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 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 Hereditary Spastic Paraplegia
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 51
Spastic Paraplegia 5a Spastic Paraplegia 5b
Spastic Paraplegia 6 Spastic Paraplegia 9
Autosomal Recessive Spastic Paraplegia Type 60 Autosomal Recessive Spastic Paraplegia Type 59
Autosomal Recessive Spastic Paraplegia Type 68 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

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

# Related Disease Score Top Affiliating Genes
1 pontocerebellar hypoplasia, type 9 9.0 AMPD2 GNAT2

Symptoms & Phenotypes for Spastic Paraplegia 63, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Spastic Paraplegia 63, Autosomal Recessive:

59 32 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 spasticity 59 32 frequent (33%) Frequent (79-30%) HP:0001257
2 hyperreflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001347
3 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
4 short stature 59 32 occasional (7.5%) Frequent (79-30%) HP:0004322
5 skeletal muscle atrophy 59 32 occasional (7.5%) Frequent (79-30%) HP:0003202
6 decreased body weight 59 32 frequent (33%) Frequent (79-30%) HP:0004325
7 abnormality of the periventricular white matter 59 32 occasional (7.5%) Occasional (29-5%) HP:0002518
8 scissor gait 59 32 frequent (33%) Frequent (79-30%) HP:0012407
9 hypertonia 59 Frequent (79-30%)
10 spastic paraplegia 32 HP:0001258
11 hypoplasia of the corpus callosum 32 occasional (7.5%) HP:0002079

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:

41
Skeletal Muscle

Publications for Spastic Paraplegia 63, Autosomal Recessive

Variations for Spastic Paraplegia 63, Autosomal Recessive

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

6
(show all 22)
# Gene Variation Type Significance SNP ID Assembly Location
1 AMPD2 NM_001257360.1(AMPD2): c.319delT (p.Cys107Alafs) deletion Pathogenic rs587777769 GRCh38 Chromosome 1, 109625368: 109625368
2 AMPD2 NM_001257360.1(AMPD2): c.319delT (p.Cys107Alafs) deletion Pathogenic rs587777769 GRCh37 Chromosome 1, 110167990: 110167990
3 AMPD2 NM_004037.7(AMPD2): c.385-4C> T single nucleotide variant Benign/Likely benign rs116223306 GRCh37 Chromosome 1, 110168280: 110168280
4 AMPD2 NM_004037.7(AMPD2): c.385-4C> T single nucleotide variant Benign/Likely benign rs116223306 GRCh38 Chromosome 1, 109625658: 109625658
5 AMPD2 NM_004037.7(AMPD2): c.1404C> T (p.Tyr468=) single nucleotide variant Conflicting interpretations of pathogenicity rs114727970 GRCh37 Chromosome 1, 110170866: 110170866
6 AMPD2 NM_004037.7(AMPD2): c.1404C> T (p.Tyr468=) single nucleotide variant Conflicting interpretations of pathogenicity rs114727970 GRCh38 Chromosome 1, 109628244: 109628244
7 AMPD2 NM_004037.7(AMPD2): c.1569+3A> G single nucleotide variant Conflicting interpretations of pathogenicity rs41280332 GRCh37 Chromosome 1, 110171120: 110171120
8 AMPD2 NM_004037.7(AMPD2): c.1569+3A> G single nucleotide variant Conflicting interpretations of pathogenicity rs41280332 GRCh38 Chromosome 1, 109628498: 109628498
9 AMPD2 NM_001257360.1(AMPD2): c.185C> G (p.Ser62Cys) single nucleotide variant Uncertain significance rs147463318 GRCh38 Chromosome 1, 109621198: 109621198
10 AMPD2 NM_001257360.1(AMPD2): c.185C> G (p.Ser62Cys) single nucleotide variant Uncertain significance rs147463318 GRCh37 Chromosome 1, 110163820: 110163820
11 AMPD2 NM_001257360.1(AMPD2): c.795C> G (p.Thr265=) single nucleotide variant Likely benign rs141818976 GRCh37 Chromosome 1, 110169449: 110169449
12 AMPD2 NM_001257360.1(AMPD2): c.795C> G (p.Thr265=) single nucleotide variant Likely benign rs141818976 GRCh38 Chromosome 1, 109626827: 109626827
13 AMPD2 NM_001257360.1(AMPD2): c.234G> A (p.Gln78=) single nucleotide variant Likely benign rs143354905 GRCh38 Chromosome 1, 109621247: 109621247
14 AMPD2 NM_001257360.1(AMPD2): c.234G> A (p.Gln78=) single nucleotide variant Likely benign rs143354905 GRCh37 Chromosome 1, 110163869: 110163869
15 AMPD2 NM_001257360.1(AMPD2): c.268C> G (p.Leu90Val) single nucleotide variant Uncertain significance rs749918422 GRCh38 Chromosome 1, 109625317: 109625317
16 AMPD2 NM_001257360.1(AMPD2): c.268C> G (p.Leu90Val) single nucleotide variant Uncertain significance rs749918422 GRCh37 Chromosome 1, 110167939: 110167939
17 AMPD2 NM_001257360.1(AMPD2): c.1266G> A (p.Ser422=) single nucleotide variant Benign rs34030799 GRCh38 Chromosome 1, 109628106: 109628106
18 AMPD2 NM_001257360.1(AMPD2): c.1266G> A (p.Ser422=) single nucleotide variant Benign rs34030799 GRCh37 Chromosome 1, 110170728: 110170728
19 AMPD2 NM_001257360.1(AMPD2): c.515+10G> A single nucleotide variant Likely benign GRCh38 Chromosome 1, 109625802: 109625802
20 AMPD2 NM_001257360.1(AMPD2): c.515+10G> A single nucleotide variant Likely benign GRCh37 Chromosome 1, 110168424: 110168424
21 AMPD2 NM_001257360.1(AMPD2): c.699G> A (p.Pro233=) single nucleotide variant Likely benign rs776483432 GRCh37 Chromosome 1, 110169353: 110169353
22 AMPD2 NM_001257360.1(AMPD2): c.699G> A (p.Pro233=) single nucleotide variant Likely benign rs776483432 GRCh38 Chromosome 1, 109626731: 109626731

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

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17 ExPASy
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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