SPG21
MCID: MST006
MIFTS: 40

Mast Syndrome (SPG21)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Mast Syndrome

MalaCards integrated aliases for Mast Syndrome:

Name: Mast Syndrome 57 12 58 72 29 13 6 44 15 39 70
Spg21 57 12 58 72
Autosomal Recessive Spastic Paraplegia Type 21 12 58
Spastic Paraplegia 21, Autosomal Recessive 57 72
Spastic Paraplegia 21, Autosomal Recessive; Spg21 57
Autosomal Recessive Spastic Paraplegia 21 12
Hereditary Spastic Paraplegia 21 12

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive spastic paraplegia type 21
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood;

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
mast syndrome:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity onset slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0060245
OMIM® 57 248900
OMIM Phenotypic Series 57 PS303350
ICD10 32 G11.4
ICD10 via Orphanet 33 G11.4
UMLS via Orphanet 71 C1855346
Orphanet 58 ORPHA101001
MedGen 41 C1855346
UMLS 70 C1855346

Summaries for Mast Syndrome

UniProtKB/Swiss-Prot : 72 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 spastic paraplegia 16, x-linked and hereditary spastic paraplegia 30, and has symptoms including abnormal pyramidal signs An important gene associated with Mast Syndrome is SPG21 (SPG21 Abhydrolase Domain Containing, Maspardin), and among its related pathways/superpathways is Endocytosis. Affiliated tissues include cerebellum, brain and liver, and related phenotypes are abnormal pyramidal sign and dementia

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) (Updated 05-Apr-2021)

Related Diseases for Mast Syndrome

Diseases related to Mast Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 69)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 16, x-linked 31.6 SPG21 SPG11
2 hereditary spastic paraplegia 30 31.6 SPG21 SPG11
3 neuropathy, hereditary sensory, type iic 31.6 SPG21 SPG11
4 spastic paraplegia 32, autosomal recessive 31.5 SPG21 SPG11
5 hereditary spastic paraplegia 51 31.5 SPG21 SPG11
6 spastic paraplegia 14, autosomal recessive 31.5 SPG21 SPG11
7 spastic paraplegia 64, autosomal recessive 31.5 SPG21 SPG11
8 spastic paraplegia 52, autosomal recessive 31.5 SPG21 SPG11
9 spastic paraplegia 50, autosomal recessive 31.5 SPG21 SPG11
10 spastic paraplegia 63, autosomal recessive 31.5 SPG21 SPG11
11 spastic paraplegia 61, autosomal recessive 31.5 SPG21 SPG11
12 spastic paraplegia 37, autosomal dominant 31.5 SPG21 SPART
13 spastic paraplegia 49, autosomal recessive 31.5 SPG21 SPG11
14 spastic paraplegia 18, autosomal recessive 31.5 SPG21 SPG11
15 spastic paraplegia 55, autosomal recessive 31.5 SPG21 SPG11
16 spastic paraplegia 54, autosomal recessive 31.5 SPG21 SPG11
17 spastic paraplegia 11, autosomal recessive 31.4 SPG21 SPG11
18 spastic paraplegia 46, autosomal recessive 31.4 SPG21 SPG11
19 spastic paraplegia 48, autosomal recessive 31.4 SPG21 SPG11
20 spastic paraplegia 13, autosomal dominant 31.4 SPG21 SPG11
21 spastic paraplegia 47, autosomal recessive 31.4 SPG21 SPG11
22 hereditary spastic paraplegia 23 31.3 SPG21 SPG11 SPART
23 spastic paraplegia 45, autosomal recessive 31.3 SPG21 SPG11 SPART
24 spastic paraplegia 26, autosomal recessive 31.3 SPG21 SPG11 SPART
25 spastic paraplegia 39, autosomal recessive 31.3 SPG21 SPG11 SPART
26 spastic paraplegia 35, autosomal recessive 31.3 SPG21 SPG11
27 spastic paraplegia 20, autosomal recessive 31.1 SPG21 SPART
28 spastic paraplegia 56, autosomal recessive 31.0 SPG21 SPG11
29 spastic paraplegia 44, autosomal recessive 30.9 ZFYVE27 SPG21 SPG11
30 spastic paraplegia 12, autosomal dominant 30.9 ZFYVE27 SPG21 SPG11
31 spastic paraplegia 33, autosomal dominant 30.6 ZFYVE27 SPG21 SPG11 SPART
32 spastic paraplegia 6, autosomal dominant 30.6 ZFYVE27 SPG21 SPG11 SPART
33 spastic paraplegia 31, autosomal dominant 30.6 ZFYVE27 SPG21 SPG11 SPART
34 spastic paraplegia 15, autosomal recessive 30.6 ZFYVE27 SPG21 SPG11 SPART
35 spastic paraplegia 8, autosomal dominant 30.6 ZFYVE27 SPG21 SPG11 SPART
36 spastic paraplegia 10, autosomal dominant 30.6 ZFYVE27 SPG21 SPG11 SPART
37 spastic paraplegia 4, autosomal dominant 30.6 ZFYVE27 SPG21 SPG11 SPART
38 masa syndrome 30.6 ZFYVE27 SPG21 SPG11 SPART
39 spastic paraplegia 17, autosomal dominant 30.6 ZFYVE27 SPG21 SPG11 SPART
40 spastic paraplegia 2, x-linked 30.6 ZFYVE27 SPG21 SPG11 SPART
41 hereditary spastic paraplegia 29.4 ZFYVE27 SPG21 SPG11 SPART
42 paraplegia 29.2 ZFYVE27 SPG21 SPG11 SPART
43 charcot-marie-tooth disease, axonal, type 2e 10.9
44 spastic paraplegia 34, x-linked 10.8
45 keratosis pilaris atrophicans 10.8
46 charcot-marie-tooth disease, axonal, type 2b1 10.8
47 charcot-marie-tooth disease, axonal, type 2b2 10.8
48 spastic paraplegia 19, autosomal dominant 10.8
49 spastic paraplegia 24, autosomal recessive 10.8
50 charcot-marie-tooth disease, axonal, type 2h 10.8

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



Diseases related to Mast Syndrome

Symptoms & Phenotypes for Mast Syndrome

Human phenotypes related to Mast Syndrome:

58 31 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal pyramidal sign 58 31 hallmark (90%) Very frequent (99-80%) HP:0007256
2 dementia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000726
3 difficulty walking 58 31 hallmark (90%) Very frequent (99-80%) HP:0002355
4 spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0001257
5 hyperreflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001347
6 dysphagia 58 31 occasional (7.5%) Frequent (79-30%) HP:0002015
7 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
8 abnormality of peripheral nerve conduction 58 31 frequent (33%) Frequent (79-30%) HP:0003134
9 dysgraphia 58 31 frequent (33%) Frequent (79-30%) HP:0010526
10 hypoplasia of the corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0002079
11 apraxia 58 31 occasional (7.5%) Frequent (79-30%) HP:0002186
12 lower limb muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0007340
13 frontotemporal cerebral atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0006892
14 primitive reflex 58 31 occasional (7.5%) Frequent (79-30%) HP:0002476
15 personality disorder 58 31 frequent (33%) Frequent (79-30%) HP:0012075
16 abnormality of extrapyramidal motor function 58 31 occasional (7.5%) Occasional (29-5%) HP:0002071
17 abnormal cerebellum morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001317
18 dysarthria 31 occasional (7.5%) HP:0001260
19 motor delay 31 occasional (7.5%) HP:0001270
20 peripheral neuropathy 31 occasional (7.5%) HP:0009830
21 akinetic mutism 31 occasional (7.5%) HP:0012672
22 gait disturbance 58 31 Frequent (79-30%) HP:0001288
23 mental deterioration 58 Frequent (79-30%)
24 spastic paraplegia 31 HP:0001258
25 babinski sign 31 HP:0003487
26 spastic paraparesis 31 HP:0002313

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

UMLS symptoms related to Mast Syndrome:


abnormal pyramidal signs

Drugs & Therapeutics for Mast Syndrome

Search Clinical Trials , NIH Clinical Center for Mast Syndrome

Cochrane evidence based reviews: 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:

40
Cerebellum, Brain, Liver

Publications for Mast Syndrome

Articles related to Mast Syndrome:

(show all 24)
# Title Authors PMID Year
1
Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses. 61 57 6
24451228 2014
2
Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia. 57 6 61
14564668 2003
3
The mast syndrome. A recessively inherited form of presenile dementia with motor disturbances. 57 6 61
6024251 1967
4
Identification of Carassius auratus gibelio liver cell proteins interacting with the GABAA receptor γ2 subunit using a yeast two-hybrid system. 61
30242696 2019
5
Exome sequencing reveals a novel homozygous mutation in ACP33 gene in the first Italian family with SPG21. 61
28752238 2017
6
Loss of Maspardin Attenuates the Growth and Maturation of Mouse Cortical Neurons. 61
26978163 2016
7
ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease. 61
26556829 2016
8
Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48. 61
24833714 2014
9
Characterization of maspardin, responsible for human Mast syndrome, in an insect species and analysis of its evolution in metazoans. 61
22729480 2012
10
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. 61
22554690 2012
11
[Study of the effect and mechanism of spastic paraplegia 21 protein on the replication of hepatitis B virus]. 61
22409846 2011
12
[Effect of hepatitis B virus X gene on the expression of spastic paraplegia 21]. 61
21205478 2010
13
A new locus (SPG46) maps to 9p21.2-q21.12 in a Tunisian family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum. 61
20593214 2010
14
Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish. 61
20390432 2010
15
Targeted disruption of the Mast syndrome gene SPG21 in mice impairs hind limb function and alters axon branching in cultured cortical neurons. 61
20661613 2010
16
Identification of novel reference genes using multiplatform expression data and their validation for quantitative gene expression analysis. 61
19584937 2009
17
Interaction of the SPG21 protein ACP33/maspardin with the aldehyde dehydrogenase ALDH16A1. 61
19184135 2009
18
Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families. 61
17661097 2007
19
Differential brain transcriptome of beta4 nAChR subunit-deficient mice: is it the effect of the null mutation or the background strain? 61
16985005 2007
20
Hereditary spastic paraplegia with thin corpus callosum: reduction of the SPG11 interval and evidence for further genetic heterogeneity. 61
16682547 2006
21
Complicated hereditary spastic paraplegia with thin corpus callosum (HSP-TCC) and childhood onset. 61
16138254 2005
22
[A family of hereditary spastic paraplegia with dementia, ataxia, and dystonia]. 61
11993189 2001
23
Probable cases of mast syndrome in a non-Amish family. 61
1479406 1992
24
Mast syndrome: a recessively inherited form of presenile dementia with motor disturbances. 61
5173363 1971

Variations for Mast Syndrome

ClinVar genetic disease variations for Mast Syndrome:

6 (show top 50) (show all 52)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SPG21 NM_016630.7(SPG21):c.322G>C (p.Ala108Pro) SNV Pathogenic 127082 rs587777315 GRCh37: 15:65267070-65267070
GRCh38: 15:64974732-64974732
2 SPG21 NM_016630.7(SPG21):c.119dup (p.Ser41fs) Duplication Pathogenic 573980 rs1332886505 GRCh37: 15:65273307-65273308
GRCh38: 15:64980969-64980970
3 SPG21 NM_016630.7(SPG21):c.601dup (p.Thr201fs) Duplication Pathogenic 2490 rs387906275 GRCh37: 15:65261659-65261660
GRCh38: 15:64969322-64969323
4 SPG21 NM_016630.7(SPG21):c.676_679delinsTT (p.Asp226fs) Indel Pathogenic 1031973 GRCh37: 15:65257792-65257795
GRCh38: 15:64965451-64965454
5 SPG21 NM_016630.7(SPG21):c.452+2T>C SNV Likely pathogenic 837857 GRCh37: 15:65266938-65266938
GRCh38: 15:64974600-64974600
6 SPG21 NM_016630.7(SPG21):c.846G>A (p.Ala282=) SNV Conflicting interpretations of pathogenicity 215896 rs146986015 GRCh37: 15:65256042-65256042
GRCh38: 15:64963701-64963701
7 SPG21 NM_016630.7(SPG21):c.516G>A (p.Pro172=) SNV Uncertain significance 409263 rs774744618 GRCh37: 15:65262497-65262497
GRCh38: 15:64970159-64970159
8 SPG21 NM_016630.7(SPG21):c.467C>G (p.Pro156Arg) SNV Uncertain significance 959485 GRCh37: 15:65262546-65262546
GRCh38: 15:64970208-64970208
9 SPG21 NM_016630.7(SPG21):c.538G>A (p.Ala180Thr) SNV Uncertain significance 316720 rs149251662 GRCh37: 15:65262475-65262475
GRCh38: 15:64970137-64970137
10 SPG21 NM_016630.7(SPG21):c.*19T>A SNV Uncertain significance 316718 rs758089289 GRCh37: 15:65255942-65255942
GRCh38: 15:64963601-64963601
11 SPG21 NM_016630.7(SPG21):c.104A>G (p.Tyr35Cys) SNV Uncertain significance 316723 rs200124791 GRCh37: 15:65273323-65273323
GRCh38: 15:64980985-64980985
12 SPG21 NM_016630.7(SPG21):c.*165C>T SNV Uncertain significance 886279 GRCh37: 15:65255796-65255796
GRCh38: 15:64963455-64963455
13 SPG21 NM_016630.7(SPG21):c.862A>G (p.Met288Val) SNV Uncertain significance 573515 rs371753104 GRCh37: 15:65256026-65256026
GRCh38: 15:64963685-64963685
14 SPG21 NM_016630.7(SPG21):c.141A>G (p.Ile47Met) SNV Uncertain significance 1030573 GRCh37: 15:65273286-65273286
GRCh38: 15:64980948-64980948
15 SPG21 NM_016630.7(SPG21):c.453-3C>T SNV Uncertain significance 844145 GRCh37: 15:65262563-65262563
GRCh38: 15:64970225-64970225
16 SPG21 NM_016630.7(SPG21):c.63+3A>T SNV Uncertain significance 863892 GRCh37: 15:65275842-65275842
GRCh38: 15:64983504-64983504
17 SPG21 NM_016630.7(SPG21):c.811-4A>T SNV Uncertain significance 641199 rs772074615 GRCh37: 15:65256081-65256081
GRCh38: 15:64963740-64963740
18 SPG21 NM_016630.7(SPG21):c.404A>G (p.Asn135Ser) SNV Uncertain significance 648202 rs374212037 GRCh37: 15:65266988-65266988
GRCh38: 15:64974650-64974650
19 SPG21 NM_016630.7(SPG21):c.740G>C (p.Arg247Thr) SNV Uncertain significance 654554 rs1595866120 GRCh37: 15:65257731-65257731
GRCh38: 15:64965390-64965390
20 SPG21 NM_016630.7(SPG21):c.625G>A (p.Val209Met) SNV Uncertain significance 661183 rs1339771718 GRCh37: 15:65261636-65261636
GRCh38: 15:64969299-64969299
21 SPG21 NM_016630.7(SPG21):c.*33G>A SNV Uncertain significance 886281 GRCh37: 15:65255928-65255928
GRCh38: 15:64963587-64963587
22 SPG21 NM_016630.7(SPG21):c.*11G>A SNV Uncertain significance 886282 GRCh37: 15:65255950-65255950
GRCh38: 15:64963609-64963609
23 SPG21 NM_016630.7(SPG21):c.321C>T (p.Gly107=) SNV Uncertain significance 887277 GRCh37: 15:65267071-65267071
GRCh38: 15:64974733-64974733
24 SPG21 NM_016630.7(SPG21):c.190T>C (p.Leu64=) SNV Uncertain significance 887278 GRCh37: 15:65273237-65273237
GRCh38: 15:64980899-64980899
25 SPG21 NM_016630.7(SPG21):c.177T>C (p.Phe59=) SNV Uncertain significance 887279 GRCh37: 15:65273250-65273250
GRCh38: 15:64980912-64980912
26 SPG21 NM_016630.7(SPG21):c.1A>G (p.Met1Val) SNV Uncertain significance 888530 GRCh37: 15:65275907-65275907
GRCh38: 15:64983569-64983569
27 SPG21 NM_016630.7(SPG21):c.-110C>T SNV Uncertain significance 888531 GRCh37: 15:65282088-65282088
GRCh38: 15:64989750-64989750
28 SPG21 NM_016630.7(SPG21):c.452+2dup Duplication Uncertain significance 930348 GRCh37: 15:65266937-65266938
GRCh38: 15:64974599-64974600
29 SPG21 NM_016630.7(SPG21):c.526A>G (p.Met176Val) SNV Uncertain significance 188225 rs786204161 GRCh37: 15:65262487-65262487
GRCh38: 15:64970149-64970149
30 SPG21 NM_016630.7(SPG21):c.223G>A (p.Ala75Thr) SNV Uncertain significance 241114 rs760497590 GRCh37: 15:65273204-65273204
GRCh38: 15:64980866-64980866
31 SPG21 NM_016630.7(SPG21):c.360A>G (p.Glu120=) SNV Uncertain significance 316721 rs746913301 GRCh37: 15:65267032-65267032
GRCh38: 15:64974694-64974694
32 SPG21 NM_016630.7(SPG21):c.82G>C (p.Asp28His) SNV Uncertain significance 316724 rs886051330 GRCh37: 15:65273345-65273345
GRCh38: 15:64981007-64981007
33 SPG21 NM_016630.7(SPG21):c.-117C>G SNV Uncertain significance 316727 rs369356785 GRCh37: 15:65282095-65282095
GRCh38: 15:64989757-64989757
34 SPG21 NM_016630.7(SPG21):c.-8A>C SNV Uncertain significance 316726 rs370166647 GRCh37: 15:65275915-65275915
GRCh38: 15:64983577-64983577
35 SPG21 NM_016630.7(SPG21):c.*63C>T SNV Uncertain significance 316716 rs567604932 GRCh37: 15:65255898-65255898
GRCh38: 15:64963557-64963557
36 SPG21 NM_016630.7(SPG21):c.-260A>C SNV Uncertain significance 316732 rs886051332 GRCh37: 15:65282238-65282238
GRCh38: 15:64989900-64989900
37 SPG21 NM_016630.7(SPG21):c.-241G>C SNV Uncertain significance 316730 rs879839698 GRCh37: 15:65282219-65282219
GRCh38: 15:64989881-64989881
38 SPG21 NM_016630.7(SPG21):c.*47T>C SNV Uncertain significance 316717 rs774586238 GRCh37: 15:65255914-65255914
GRCh38: 15:64963573-64963573
39 SPG21 NM_016630.7(SPG21):c.670-13G>T SNV Uncertain significance 316719 rs115421171 GRCh37: 15:65257814-65257814
GRCh38: 15:64965473-64965473
40 SPG21 NM_016630.7(SPG21):c.-174A>G SNV Uncertain significance 316728 rs886051331 GRCh37: 15:65282152-65282152
GRCh38: 15:64989814-64989814
41 SPG21 NM_016630.7(SPG21):c.114C>A (p.Gly38=) SNV Uncertain significance 316722 rs752992250 GRCh37: 15:65273313-65273313
GRCh38: 15:64980975-64980975
42 SPG21 NM_016630.7(SPG21):c.60A>G (p.Lys20=) SNV Uncertain significance 316725 rs375609763 GRCh37: 15:65275848-65275848
GRCh38: 15:64983510-64983510
43 SPG21 NM_016630.7(SPG21):c.-241G>A SNV Uncertain significance 316731 rs879839698 GRCh37: 15:65282219-65282219
GRCh38: 15:64989881-64989881
44 SPG21 NM_016630.7(SPG21):c.*593= SNV Likely benign 316714 rs57438358 GRCh37: 15:65255368-65255368
GRCh38: 15:64963027-64963027
45 SPG21 NM_016630.7(SPG21):c.771A>C (p.Pro257=) SNV Likely benign 696703 rs141785149 GRCh37: 15:65257700-65257700
GRCh38: 15:64965359-64965359
46 SPG21 NM_016630.7(SPG21):c.687G>A (p.Ala229=) SNV Likely benign 700654 rs762934056 GRCh37: 15:65257784-65257784
GRCh38: 15:64965443-64965443
47 SPG21 NM_016630.7(SPG21):c.*489C>T SNV Likely benign 884249 GRCh37: 15:65255472-65255472
GRCh38: 15:64963131-64963131
48 SPG21 NM_016630.7(SPG21):c.843C>T (p.Tyr281=) SNV Benign/Likely benign 220662 rs147428832 GRCh37: 15:65256045-65256045
GRCh38: 15:64963704-64963704
49 SPG21 NM_016630.7(SPG21):c.*75= Variation Benign 886280 GRCh37: 15:65255886-65255886
GRCh38: 15:64963545-64963545
50 SPG21 NM_016630.7(SPG21):c.-213C>T SNV Benign 316729 rs11071822 GRCh37: 15:65282191-65282191
GRCh38: 15:64989853-64989853

Expression for Mast Syndrome

Search GEO for disease gene expression data for Mast Syndrome.

Pathways for Mast Syndrome

Pathways related to Mast Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.2 ZFYVE27 SPG21 SPART

GO Terms for Mast Syndrome

Molecular functions related to Mast Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor GO:0016620 8.8 ALDH6A1 ALDH4A1 ALDH16A1

Sources for Mast Syndrome

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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