SMAFK
MCID: SPN204
MIFTS: 29

Spinal Muscular Atrophy, Late-Onset, Finkel Type (SMAFK)

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Spinal Muscular Atrophy, Late-Onset, Finkel Type

MalaCards integrated aliases for Spinal Muscular Atrophy, Late-Onset, Finkel Type:

Name: Spinal Muscular Atrophy, Late-Onset, Finkel Type 57 29 13 6 70
Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant 57 72
Adult Proximal Spinal Muscular Atrophy, Autosomal Dominant 29 6
Finkel Late-Adult Type Sma 57 72
Smafk 57 58
Autosomal Dominant Late-Onset Spinal Muscular Atrophy, Finkel Type 58
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy 58
Atrophy, Muscular, Spinal, Proximal, Adult, Autosomal Dominant 39
Autosomal Dominant Adult-Onset Proximal Sma 58
Finkel Disease 58
Smapad 72

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant adult-onset proximal spinal muscular atrophy
Inheritance: Autosomal dominant; Age of onset: Adult;

OMIM®:

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

Miscellaneous:
onset after third decade


HPO:

31
spinal muscular atrophy, late-onset, finkel type:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM® 57 182980
MeSH 44 D009134
ICD10 via Orphanet 33 G12.1
UMLS via Orphanet 71 C1854058 C1866777
Orphanet 58 ORPHA209335
UMLS 70 C1854058

Summaries for Spinal Muscular Atrophy, Late-Onset, Finkel Type

UniProtKB/Swiss-Prot : 72 Spinal muscular atrophy, proximal, adult, autosomal dominant: A form of spinal muscular atrophy, a neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. SMAPAD is characterized by proximal muscle weakness that begins in the lower limbs and then progresses to upper limbs, onset in late adulthood (after third decade) and a benign course. Most of the patients remain ambulatory 10 to 40 years after clinical onset.

MalaCards based summary : Spinal Muscular Atrophy, Late-Onset, Finkel Type, also known as spinal muscular atrophy, proximal, adult, autosomal dominant, is related to autosomal dominant adult-onset proximal spinal muscular atrophy, and has symptoms including muscular fasciculation An important gene associated with Spinal Muscular Atrophy, Late-Onset, Finkel Type is VAPB (VAMP Associated Protein B And C). Affiliated tissues include spinal cord, and related phenotypes are fasciculations and hyporeflexia

OMIM® : 57 Spinal muscular atrophy is characterized by degeneration of the anterior horn cells in the spinal cord, leading to symmetric muscle weakness and wasting. See also autosomal recessive adult-onset proximal spinal muscular atrophy (SMA4; 271150), caused by defect in the SMN1 gene (600354), and autosomal dominant childhood-onset proximal SMA (158600). (182980) (Updated 05-Apr-2021)

Related Diseases for Spinal Muscular Atrophy, Late-Onset, Finkel Type

Diseases related to Spinal Muscular Atrophy, Late-Onset, Finkel Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 autosomal dominant adult-onset proximal spinal muscular atrophy 11.0

Symptoms & Phenotypes for Spinal Muscular Atrophy, Late-Onset, Finkel Type

Human phenotypes related to Spinal Muscular Atrophy, Late-Onset, Finkel Type:

31
# Description HPO Frequency HPO Source Accession
1 fasciculations 31 HP:0002380
2 hyporeflexia 31 HP:0001265
3 proximal muscle weakness 31 HP:0003701
4 emg: neuropathic changes 31 HP:0003445
5 spinal muscular atrophy 31 HP:0007269

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
fasciculations
hyporeflexia
emg shows neurogenic abnormalities
muscle weakness, proximal, due to neuronopathy begins in the lower limbs and then progresses to upper limbs

Muscle Soft Tissue:
muscle weakness, proximal, due to neuronopathy, begins in the lower limbs and then progresses to upper limbs

Clinical features from OMIM®:

182980 (Updated 05-Apr-2021)

UMLS symptoms related to Spinal Muscular Atrophy, Late-Onset, Finkel Type:


muscular fasciculation

Drugs & Therapeutics for Spinal Muscular Atrophy, Late-Onset, Finkel Type

Search Clinical Trials , NIH Clinical Center for Spinal Muscular Atrophy, Late-Onset, Finkel Type

Genetic Tests for Spinal Muscular Atrophy, Late-Onset, Finkel Type

Genetic tests related to Spinal Muscular Atrophy, Late-Onset, Finkel Type:

# Genetic test Affiliating Genes
1 Adult Proximal Spinal Muscular Atrophy, Autosomal Dominant 29 VAPB
2 Spinal Muscular Atrophy, Late-Onset, Finkel Type 29

Anatomical Context for Spinal Muscular Atrophy, Late-Onset, Finkel Type

MalaCards organs/tissues related to Spinal Muscular Atrophy, Late-Onset, Finkel Type:

40
Spinal Cord

Publications for Spinal Muscular Atrophy, Late-Onset, Finkel Type

Articles related to Spinal Muscular Atrophy, Late-Onset, Finkel Type:

(show all 24)
# Title Authors PMID Year
1
A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. 57 6
15372378 2004
2
Atypical familial amyotrophic lateral sclerosis with initial symptoms of pain or tremor in a Chinese family harboring VAPB-P56S mutation. 6
26566915 2016
3
Amyotrophic lateral sclerosis-related VAPB P56S mutation differentially affects the function and survival of corticospinal and spinal motor neurons. 6
23771029 2013
4
Familial adult spinal muscular atrophy associated with the VAPB gene: report of 42 cases in Brazil. 6
24212516 2013
5
A mutation in VAPB that causes amyotrophic lateral sclerosis also causes a nuclear envelope defect. 6
22454507 2012
6
Amyotrophic lateral sclerosis-associated mutant VAPBP56S perturbs calcium homeostasis to disrupt axonal transport of mitochondria. 6
22258555 2012
7
VAPB interacts with the mitochondrial protein PTPIP51 to regulate calcium homeostasis. 6
22131369 2012
8
Amyotrophic lateral sclerosis-linked mutant VAPB enhances TDP-43-induced motor neuronal toxicity. 6
21933185 2011
9
The ALS8-associated mutant VAPB(P56S) is resistant to proteolysis in neurons. 6
21275991 2011
10
SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations. 6
20577002 2010
11
Elimination of the native structure and solubility of the hVAPB MSP domain by the Pro56Ser mutation that causes amyotrophic lateral sclerosis. 6
20377183 2010
12
New VAPB deletion variant and exclusion of VAPB mutations in familial ALS. 6
18322265 2008
13
Motor neuron disease-associated mutant vesicle-associated membrane protein-associated protein (VAP) B recruits wild-type VAPs into endoplasmic reticulum-derived tubular aggregates. 6
17804640 2007
14
Expanding the phenotypes of the Pro56Ser VAPB mutation: proximal SMA with dysautonomia. 6
16967488 2006
15
A common founder for amyotrophic lateral sclerosis type 8 (ALS8) in the Brazilian population. 6
16187141 2005
16
Clinical variability of autosomal dominant spinal muscular atrophy. 57
1578236 1992
17
No evidence for linkage of autosomal dominant proximal spinal muscular atrophies to chromosome 5q markers. 57
1997389 1991
18
Autosomal dominant cramping disease. 57
2357164 1990
19
Autosomal dominant late adult spinal muscular atrophy, type Finkel. 57
7258225 1981
20
Autosomal dominant spinal muscular atrophy: a clinical and genetic study. 57
712386 1978
21
The nosology of the spinal muscular atrophies. 57
4948374 1971
22
Chronic spinal muscular atrophy in adults. 1. The Kugelberg-Welander syndrome. 57
5367043 1969
23
The benign proximal spinal progressive muscular atrophies. 57
5726730 1968
24
HEREDITARY PROXIMAL NEUROGENIC MUSCULAR ATROPHY IN ADULT. 57
14295959 1965

Variations for Spinal Muscular Atrophy, Late-Onset, Finkel Type

ClinVar genetic disease variations for Spinal Muscular Atrophy, Late-Onset, Finkel Type:

6 (show top 50) (show all 206)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 VAPB NM_004738.5(VAPB):c.166C>T (p.Pro56Ser) SNV Pathogenic 4806 rs74315431 GRCh37: 20:56993374-56993374
GRCh38: 20:58418318-58418318
2 VAPB NM_004738.5(VAPB):c.166C>T (p.Pro56Ser) SNV Pathogenic 4806 rs74315431 GRCh37: 20:56993374-56993374
GRCh38: 20:58418318-58418318
3 VAPB NM_004738.5(VAPB):c.457G>A (p.Val153Met) SNV Uncertain significance 999141 GRCh37: 20:57016023-57016023
GRCh38: 20:58440967-58440967
4 VAPB NC_000020.10:g.(?_56964165)_(56964583_?)del Deletion Uncertain significance 999790 GRCh37: 20:56964165-56964583
GRCh38:
5 VAPB NM_004738.5(VAPB):c.421A>G (p.Ile141Val) SNV Uncertain significance 1009230 GRCh37: 20:57015987-57015987
GRCh38: 20:58440931-58440931
6 VAPB NM_004738.4(VAPB):c.289A>G (p.Thr97Ala) SNV Uncertain significance 534270 rs752091117 GRCh37: 20:57009735-57009735
GRCh38: 20:58434679-58434679
7 VAPB NM_004738.5(VAPB):c.502A>G (p.Lys168Glu) SNV Uncertain significance 842379 GRCh37: 20:57016068-57016068
GRCh38: 20:58441012-58441012
8 VAPB NM_004738.4(VAPB):c.289A>G (p.Thr97Ala) SNV Uncertain significance 534270 rs752091117 GRCh37: 20:57009735-57009735
GRCh38: 20:58434679-58434679
9 VAPB NM_004738.5(VAPB):c.310G>A (p.Ala104Thr) SNV Uncertain significance 897834 GRCh37: 20:57009756-57009756
GRCh38: 20:58434700-58434700
10 VAPB NM_004738.5(VAPB):c.35C>T (p.Pro12Leu) SNV Uncertain significance 1015007 GRCh37: 20:56964550-56964550
GRCh38: 20:58389494-58389494
11 overlap with 16 genes NC_000020.10:g.(?_56993257)_(57967907_?)dup Duplication Uncertain significance 1024594 GRCh37: 20:56993257-57967907
GRCh38:
12 VAPB NM_004738.5(VAPB):c.310G>A (p.Ala104Thr) SNV Uncertain significance 897834 GRCh37: 20:57009756-57009756
GRCh38: 20:58434700-58434700
13 VAPB NM_004738.4(VAPB):c.332C>T (p.Pro111Leu) SNV Uncertain significance 338930 rs777316448 GRCh37: 20:57014017-57014017
GRCh38: 20:58438961-58438961
14 VAPB NM_004738.5(VAPB):c.493G>A (p.Glu165Lys) SNV Uncertain significance 570108 rs772254840 GRCh37: 20:57016059-57016059
GRCh38: 20:58441003-58441003
15 VAPB NM_004738.4(VAPB):c.332C>T (p.Pro111Leu) SNV Uncertain significance 338930 rs777316448 GRCh37: 20:57014017-57014017
GRCh38: 20:58438961-58438961
16 VAPB NM_004738.5(VAPB):c.635C>A (p.Ala212Asp) SNV Uncertain significance 1042871 GRCh37: 20:57019194-57019194
GRCh38: 20:58444138-58444138
17 VAPB NM_004738.5(VAPB):c.518G>A (p.Cys173Tyr) SNV Uncertain significance 1044550 GRCh37: 20:57016084-57016084
GRCh38: 20:58441028-58441028
18 VAPB NM_004738.5(VAPB):c.622A>G (p.Ile208Val) SNV Uncertain significance 1047783 GRCh37: 20:57019181-57019181
GRCh38: 20:58444125-58444125
19 VAPB NM_004738.5(VAPB):c.*574G>A SNV Uncertain significance 897918 GRCh37: 20:57019865-57019865
GRCh38: 20:58444809-58444809
20 VAPB NM_004738.5(VAPB):c.*624C>T SNV Uncertain significance 897919 GRCh37: 20:57019915-57019915
GRCh38: 20:58444859-58444859
21 VAPB NM_004738.5(VAPB):c.*1295T>C SNV Uncertain significance 897995 GRCh37: 20:57020586-57020586
GRCh38: 20:58445530-58445530
22 VAPB NM_004738.5(VAPB):c.*2571G>A SNV Uncertain significance 898058 GRCh37: 20:57021862-57021862
GRCh38: 20:58446806-58446806
23 VAPB NM_004738.5(VAPB):c.*5616T>C SNV Uncertain significance 898310 GRCh37: 20:57024907-57024907
GRCh38: 20:58449851-58449851
24 VAPB NM_004738.5(VAPB):c.*5771T>G SNV Uncertain significance 898311 GRCh37: 20:57025062-57025062
GRCh38: 20:58450006-58450006
25 VAPB NM_004738.5(VAPB):c.*6404C>T SNV Uncertain significance 898393 GRCh37: 20:57025695-57025695
GRCh38: 20:58450639-58450639
26 VAPB NM_004738.5(VAPB):c.*6462G>T SNV Uncertain significance 898394 GRCh37: 20:57025753-57025753
GRCh38: 20:58450697-58450697
27 VAPB NM_004738.5(VAPB):c.-166G>A SNV Uncertain significance 898907 GRCh37: 20:56964350-56964350
GRCh38: 20:58389294-58389294
28 VAPB NM_004738.5(VAPB):c.667C>T (p.Arg223Trp) SNV Uncertain significance 448853 rs144718603 GRCh37: 20:57019226-57019226
GRCh38: 20:58444170-58444170
29 VAPB NM_004738.5(VAPB):c.*774G>A SNV Uncertain significance 899057 GRCh37: 20:57020065-57020065
GRCh38: 20:58445009-58445009
30 VAPB NM_004738.5(VAPB):c.*861T>C SNV Uncertain significance 899058 GRCh37: 20:57020152-57020152
GRCh38: 20:58445096-58445096
31 VAPB NM_004738.5(VAPB):c.*1563G>C SNV Uncertain significance 899119 GRCh37: 20:57020854-57020854
GRCh38: 20:58445798-58445798
32 VAPB NM_004738.5(VAPB):c.*4637G>T SNV Uncertain significance 898244 GRCh37: 20:57023928-57023928
GRCh38: 20:58448872-58448872
33 VAPB NM_004738.5(VAPB):c.*2733G>A SNV Uncertain significance 899179 GRCh37: 20:57022024-57022024
GRCh38: 20:58446968-58446968
34 VAPB NM_004738.5(VAPB):c.*3305C>G SNV Uncertain significance 899238 GRCh37: 20:57022596-57022596
GRCh38: 20:58447540-58447540
35 VAPB NM_004738.5(VAPB):c.*4023A>G SNV Uncertain significance 899292 GRCh37: 20:57023314-57023314
GRCh38: 20:58448258-58448258
36 VAPB NM_004738.5(VAPB):c.*4929C>T SNV Uncertain significance 899355 GRCh37: 20:57024220-57024220
GRCh38: 20:58449164-58449164
37 KIF1B NM_015074.3(KIF1B):c.1633G>A (p.Gly545Arg) SNV Uncertain significance 543291 rs145266399 GRCh37: 1:10355818-10355818
GRCh38: 1:10295760-10295760
38 VAPB NM_004738.4(VAPB):c.58+5G>A SNV Uncertain significance 574276 rs753611165 GRCh37: 20:56964578-56964578
GRCh38: 20:58389522-58389522
39 VAPB NM_004738.5(VAPB):c.14A>G (p.Glu5Gly) SNV Uncertain significance 834206 GRCh37: 20:56964529-56964529
GRCh38: 20:58389473-58389473
40 VAPB NM_004738.5(VAPB):c.587T>C (p.Leu196Pro) SNV Uncertain significance 853469 GRCh37: 20:57019146-57019146
GRCh38: 20:58444090-58444090
41 VAPB NM_004738.5(VAPB):c.315A>G (p.Val105=) SNV Uncertain significance 951278 GRCh37: 20:57009761-57009761
GRCh38: 20:58434705-58434705
42 VAPB NM_004738.5(VAPB):c.551G>A (p.Arg184Gln) SNV Uncertain significance 448852 rs145483046 GRCh37: 20:57016117-57016117
GRCh38: 20:58441061-58441061
43 VAPB NM_004738.5(VAPB):c.656G>T (p.Gly219Val) SNV Uncertain significance 191163 rs786205553 GRCh37: 20:57019215-57019215
GRCh38: 20:58444159-58444159
44 VAPB NM_004738.5(VAPB):c.709A>G (p.Ile237Val) SNV Uncertain significance 534267 rs1555816248 GRCh37: 20:57019268-57019268
GRCh38: 20:58444212-58444212
45 VAPB NM_004738.5(VAPB):c.194C>T (p.Ala65Val) SNV Uncertain significance 534269 rs1555813002 GRCh37: 20:56993402-56993402
GRCh38: 20:58418346-58418346
46 VAPB NM_004738.5(VAPB):c.482T>C (p.Leu161Ser) SNV Uncertain significance 534271 rs1555815825 GRCh37: 20:57016048-57016048
GRCh38: 20:58440992-58440992
47 VAPB NM_004738.5(VAPB):c.104C>T (p.Pro35Leu) SNV Uncertain significance 534272 rs1456089445 GRCh37: 20:56993312-56993312
GRCh38: 20:58418256-58418256
48 VAPB NM_004738.5(VAPB):c.545G>A (p.Arg182Lys) SNV Uncertain significance 574815 rs1568720020 GRCh37: 20:57016111-57016111
GRCh38: 20:58441055-58441055
49 VAPB NM_004738.5(VAPB):c.111C>A (p.Asp37Glu) SNV Uncertain significance 579701 rs781691837 GRCh37: 20:56993319-56993319
GRCh38: 20:58418263-58418263
50 VAPB NM_004738.5(VAPB):c.668G>C (p.Arg223Pro) SNV Uncertain significance 639834 rs763755820 GRCh37: 20:57019227-57019227
GRCh38: 20:58444171-58444171

UniProtKB/Swiss-Prot genetic disease variations for Spinal Muscular Atrophy, Late-Onset, Finkel Type:

72
# Symbol AA change Variation ID SNP ID
1 VAPB p.Pro56Ser VAR_026743 rs74315431

Expression for Spinal Muscular Atrophy, Late-Onset, Finkel Type

Search GEO for disease gene expression data for Spinal Muscular Atrophy, Late-Onset, Finkel Type.

Pathways for Spinal Muscular Atrophy, Late-Onset, Finkel Type

GO Terms for Spinal Muscular Atrophy, Late-Onset, Finkel Type

Sources for Spinal Muscular Atrophy, Late-Onset, Finkel Type

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11 DGIdb
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45 MESH via Orphanet
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56 OMIM via Orphanet
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