MCID: MST006
MIFTS: 33

Mast Syndrome

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Mast Syndrome

MalaCards integrated aliases for Mast Syndrome:

Name: Mast Syndrome 57 12 59 75 29 13 6 15 73
Spg21 57 12 59 75
Autosomal Recessive Spastic Paraplegia Type 21 12 59
Spastic Paraplegia 21, Autosomal Recessive 57 75
Spastic Paraplegia 21, Autosomal Recessive; Spg21 57
Autosomal Recessive Spastic Paraplegia 21 12
Hereditary Spastic Paraplegia 21 12

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive spastic paraplegia type 21
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
slowly progressive
highly variable severity
cases reported in the old order amish and one japanese family (last curated april 2014)
onset ranges from young adulthood to sixties


HPO:

32
mast syndrome:
Onset and clinical course variable expressivity slow progression onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Mast Syndrome

UniProtKB/Swiss-Prot : 75 Spastic paraplegia 21, 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. SPG21 is associated with dementia and other central nervous system abnormalities. Subtle childhood abnormalities may be present, but the main features develop in early adulthood. The disease is slowly progressive, and cerebellar and extrapyramidal signs are also found in patients with advanced disease. Patients have a thin corpus callosum and white-matter abnormalities.

MalaCards based summary : Mast Syndrome, also known as spg21, is related to paraplegia and hereditary spastic paraplegia, and has symptoms including abnormal pyramidal signs An important gene associated with Mast Syndrome is SPG21 (SPG21, Maspardin). Affiliated tissues include brain and cerebellum, and related phenotypes are dementia and difficulty walking

Disease Ontology : 12 A hereditary spastic paraplegia associated with dementia.

OMIM : 57 Mast syndrome is an autosomal recessive complicated form of hereditary spastic paraplegia in which progressive spastic paraparesis is associated in more advanced cases with cognitive decline, dementia, and other neurologic abnormalities. Symptom onset usually occurs in adulthood, and the disorder is progressive with variable severity. Brain imaging shows thinning of the corpus callosum. The disorder occurs with high frequency in the Old Order Amish (summary by Simpson et al., 2003). For a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800). (248900)

Related Diseases for Mast Syndrome

Graphical network of the top 20 diseases related to Mast Syndrome:



Diseases related to Mast Syndrome

Symptoms & Phenotypes for Mast Syndrome

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
hyperreflexia
spastic paraplegia
gait disturbances
pyramidal signs
extensor plantar responses
more
Head And Neck Mouth:
brisk jaw jerk

Neurologic Peripheral Nervous System:
peripheral neuropathy (in some patients)

Muscle Soft Tissue:
lower limb weakness

Abdomen Gastrointestinal:
dysphagia (in some patients)


Clinical features from OMIM:

248900

Human phenotypes related to Mast Syndrome:

59 32 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dementia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000726
2 difficulty walking 59 32 hallmark (90%) Very frequent (99-80%) HP:0002355
3 abnormal pyramidal signs 59 32 hallmark (90%) Very frequent (99-80%) HP:0007256
4 spasticity 59 32 frequent (33%) Frequent (79-30%) HP:0001257
5 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
6 gait disturbance 59 32 Frequent (79-30%) HP:0001288
7 hyperreflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001347
8 dysphagia 59 32 occasional (7.5%) Frequent (79-30%) HP:0002015
9 hypoplasia of the corpus callosum 59 32 frequent (33%) Frequent (79-30%) HP:0002079
10 apraxia 59 32 occasional (7.5%) Frequent (79-30%) HP:0002186
11 primitive reflex 59 32 occasional (7.5%) Frequent (79-30%) HP:0002476
12 abnormality of peripheral nerve conduction 59 32 frequent (33%) Frequent (79-30%) HP:0003134
13 frontotemporal cerebral atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0006892
14 lower limb muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0007340
15 dysgraphia 59 32 frequent (33%) Frequent (79-30%) HP:0010526
16 personality disorder 59 32 frequent (33%) Frequent (79-30%) HP:0012075
17 abnormality of the cerebellum 59 32 occasional (7.5%) Occasional (29-5%) HP:0001317
18 abnormality of extrapyramidal motor function 59 32 occasional (7.5%) Occasional (29-5%) HP:0002071
19 mental deterioration 59 Frequent (79-30%)
20 spastic paraplegia 32 HP:0001258
21 dysarthria 32 occasional (7.5%) HP:0001260
22 motor delay 32 occasional (7.5%) HP:0001270
23 spastic paraparesis 32 HP:0002313
24 babinski sign 32 HP:0003487
25 peripheral neuropathy 32 occasional (7.5%) HP:0009830
26 akinetic mutism 32 occasional (7.5%) HP:0012672

UMLS symptoms related to Mast Syndrome:


abnormal pyramidal signs

Drugs & Therapeutics for Mast Syndrome

Search Clinical Trials , NIH Clinical Center for Mast Syndrome

Genetic Tests for Mast Syndrome

Genetic tests related to Mast Syndrome:

# Genetic test Affiliating Genes
1 Mast Syndrome 29 SPG21

Anatomical Context for Mast Syndrome

MalaCards organs/tissues related to Mast Syndrome:

41
Brain, Cerebellum

Publications for Mast Syndrome

Articles related to Mast Syndrome:

# Title Authors Year
1
Characterization of maspardin, responsible for human Mast syndrome, in an insect species and analysis of its evolution in metazoans. ( 22729480 )
2012
2
Targeted disruption of the Mast syndrome gene SPG21 in mice impairs hind limb function and alters axon branching in cultured cortical neurons. ( 20661613 )
2010
3
Maspardin is mutated in Mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia. ( 14564668 )
2003
4
Probable cases of mast syndrome in a non-Amish family. ( 1479406 )
1992
5
Mast syndrome: a recessively inherited form of presenile dementia with motor disturbances. ( 5173363 )
1971
6
The mast syndrome. A recessively inherited form of presenile dementia with motor disturbances. ( 6024251 )
1967

Variations for Mast Syndrome

ClinVar genetic disease variations for Mast Syndrome:

6
(show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 SPG21 NM_016630.6(SPG21): c.601dupA (p.Thr201Asnfs) duplication Pathogenic rs387906275 GRCh37 Chromosome 15, 65261660: 65261660
2 SPG21 NM_016630.6(SPG21): c.601dupA (p.Thr201Asnfs) duplication Pathogenic rs387906275 GRCh38 Chromosome 15, 64969323: 64969323
3 SPG21 NM_016630.6(SPG21): c.322G> C (p.Ala108Pro) single nucleotide variant Pathogenic rs587777315 GRCh38 Chromosome 15, 64974732: 64974732
4 SPG21 NM_016630.6(SPG21): c.322G> C (p.Ala108Pro) single nucleotide variant Pathogenic rs587777315 GRCh37 Chromosome 15, 65267070: 65267070
5 SPG21 NM_016630.6(SPG21): c.526A> G (p.Met176Val) single nucleotide variant Uncertain significance rs786204161 GRCh38 Chromosome 15, 64970149: 64970149
6 SPG21 NM_016630.6(SPG21): c.526A> G (p.Met176Val) single nucleotide variant Uncertain significance rs786204161 GRCh37 Chromosome 15, 65262487: 65262487
7 SPG21 NM_016630.6(SPG21): c.846G> A (p.Ala282=) single nucleotide variant Conflicting interpretations of pathogenicity rs146986015 GRCh38 Chromosome 15, 64963701: 64963701
8 SPG21 NM_016630.6(SPG21): c.846G> A (p.Ala282=) single nucleotide variant Conflicting interpretations of pathogenicity rs146986015 GRCh37 Chromosome 15, 65256042: 65256042
9 SPG21 NM_016630.6(SPG21): c.843C> T (p.Tyr281=) single nucleotide variant Benign rs147428832 GRCh37 Chromosome 15, 65256045: 65256045
10 SPG21 NM_016630.6(SPG21): c.843C> T (p.Tyr281=) single nucleotide variant Benign rs147428832 GRCh38 Chromosome 15, 64963704: 64963704
11 SPG21 NM_016630.6(SPG21): c.223G> A (p.Ala75Thr) single nucleotide variant Uncertain significance rs760497590 GRCh38 Chromosome 15, 64980866: 64980866
12 SPG21 NM_016630.6(SPG21): c.223G> A (p.Ala75Thr) single nucleotide variant Uncertain significance rs760497590 GRCh37 Chromosome 15, 65273204: 65273204
13 SPG21 NM_016630.6(SPG21): c.516G> A (p.Pro172=) single nucleotide variant Uncertain significance rs774744618 GRCh38 Chromosome 15, 64970159: 64970159
14 SPG21 NM_016630.6(SPG21): c.516G> A (p.Pro172=) single nucleotide variant Uncertain significance rs774744618 GRCh37 Chromosome 15, 65262497: 65262497
15 SPG21 NM_016630.6(SPG21): c.318T> C (p.Phe106=) single nucleotide variant Benign rs147236778 GRCh38 Chromosome 15, 64974736: 64974736
16 SPG21 NM_016630.6(SPG21): c.318T> C (p.Phe106=) single nucleotide variant Benign rs147236778 GRCh37 Chromosome 15, 65267074: 65267074

Expression for Mast Syndrome

Search GEO for disease gene expression data for Mast Syndrome.

Pathways for Mast Syndrome

GO Terms for Mast Syndrome

Cellular components related to Mast Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lysosomal membrane GO:0005765 8.62 EGF SPG11

Sources for Mast Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
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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