MCID: SPN204
MIFTS: 19

Spinal Muscular Atrophy, Late-Onset, Finkel Type

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Muscle 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 13 6 73
Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant 57 75
Finkel Late-Adult Type Sma 57 75
Smafk 57 59
Autosomal Dominant Late-Onset Spinal Muscular Atrophy, Finkel Type 59
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy 59
Atrophy, Muscular, Spinal, Proximal, Adult, Autosomal Dominant 40
Adult Proximal Spinal Muscular Atrophy, Autosomal Dominant 29
Autosomal Dominant Adult-Onset Proximal Sma 59
Finkel Disease 59
Smapad 75

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant adult-onset proximal spinal muscular atrophy
Inheritance: Autosomal dominant; Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset after third decade


HPO:

32
spinal muscular atrophy, late-onset, finkel type:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 182980
Orphanet 59 ORPHA209335
UMLS via Orphanet 74 C1866777 C1854058
ICD10 via Orphanet 34 G12.1
MeSH 44 D009134
UMLS 73 C1854058

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

UniProtKB/Swiss-Prot : 75 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, is also known as spinal muscular atrophy, proximal, adult, autosomal dominant, 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 hyporeflexia and fasciculations

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)

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

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

Symptoms via clinical synopsis from OMIM:

57
Muscle Soft Tissue:
muscle weakness, proximal, due to neuronopathy, begins in the lower limbs and then progresses to upper limbs

Neurologic Central Nervous System:
muscle weakness, proximal, due to neuronopathy begins in the lower limbs and then progresses to upper limbs
fasciculations
hyporeflexia
emg shows neurogenic abnormalities


Clinical features from OMIM:

182980

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

32
# Description HPO Frequency HPO Source Accession
1 hyporeflexia 32 HP:0001265
2 fasciculations 32 HP:0002380
3 emg 32 HP:0003445
4 proximal muscle weakness 32 HP:0003701
5 spinal muscular atrophy 32 HP:0007269

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

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

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

41
Spinal Cord

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

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

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

75
# Symbol AA change Variation ID SNP ID
1 VAPB p.Pro56Ser VAR_026743 rs74315431

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

6
(show all 36)
# Gene Variation Type Significance SNP ID Assembly Location
1 VAPB NM_004738.4(VAPB): c.166C> T (p.Pro56Ser) single nucleotide variant Pathogenic rs74315431 GRCh37 Chromosome 20, 56993374: 56993374
2 VAPB NM_004738.4(VAPB): c.166C> T (p.Pro56Ser) single nucleotide variant Pathogenic rs74315431 GRCh38 Chromosome 20, 58418318: 58418318
3 VAPB NM_004738.4(VAPB): c.656G> T (p.Gly219Val) single nucleotide variant Uncertain significance rs786205553 GRCh37 Chromosome 20, 57019215: 57019215
4 VAPB NM_004738.4(VAPB): c.656G> T (p.Gly219Val) single nucleotide variant Uncertain significance rs786205553 GRCh38 Chromosome 20, 58444159: 58444159
5 VAPB NM_004738.4(VAPB): c.390T> G (p.Asp130Glu) single nucleotide variant Likely benign rs146459055 GRCh37 Chromosome 20, 57014075: 57014075
6 VAPB NM_004738.4(VAPB): c.390T> G (p.Asp130Glu) single nucleotide variant Likely benign rs146459055 GRCh38 Chromosome 20, 58439019: 58439019
7 VAPB NM_004738.4(VAPB): c.479_481delCTT (p.Ser160del) deletion Likely benign rs886056812 GRCh38 Chromosome 20, 58440989: 58440991
8 VAPB NM_004738.4(VAPB): c.479_481delCTT (p.Ser160del) deletion Likely benign rs886056812 GRCh37 Chromosome 20, 57016045: 57016047
9 VAPB NM_004738.4(VAPB): c.574-4G> A single nucleotide variant Conflicting interpretations of pathogenicity rs201798741 GRCh38 Chromosome 20, 58444073: 58444073
10 VAPB NM_004738.4(VAPB): c.574-4G> A single nucleotide variant Conflicting interpretations of pathogenicity rs201798741 GRCh37 Chromosome 20, 57019129: 57019129
11 VAPB NM_004738.4(VAPB): c.667C> T (p.Arg223Trp) single nucleotide variant Uncertain significance rs144718603 GRCh37 Chromosome 20, 57019226: 57019226
12 VAPB NM_004738.4(VAPB): c.667C> T (p.Arg223Trp) single nucleotide variant Uncertain significance rs144718603 GRCh38 Chromosome 20, 58444170: 58444170
13 VAPB NM_004738.4(VAPB): c.59-4A> G single nucleotide variant Benign rs193136039 GRCh38 Chromosome 20, 58418207: 58418207
14 VAPB NM_004738.4(VAPB): c.59-4A> G single nucleotide variant Benign rs193136039 GRCh37 Chromosome 20, 56993263: 56993263
15 VAPB NM_004738.4(VAPB): c.348T> C (p.Asp116=) single nucleotide variant Likely benign rs751762415 GRCh38 Chromosome 20, 58438977: 58438977
16 VAPB NM_004738.4(VAPB): c.348T> C (p.Asp116=) single nucleotide variant Likely benign rs751762415 GRCh37 Chromosome 20, 57014033: 57014033
17 VAPB NM_004738.4(VAPB): c.492C> T (p.Thr164=) single nucleotide variant Likely benign rs139884809 GRCh37 Chromosome 20, 57016058: 57016058
18 VAPB NM_004738.4(VAPB): c.492C> T (p.Thr164=) single nucleotide variant Likely benign rs139884809 GRCh38 Chromosome 20, 58441002: 58441002
19 VAPB NM_004738.4(VAPB): c.510G> A (p.Met170Ile) single nucleotide variant Likely benign rs143144050 GRCh38 Chromosome 20, 58441020: 58441020
20 VAPB NM_004738.4(VAPB): c.510G> A (p.Met170Ile) single nucleotide variant Likely benign rs143144050 GRCh37 Chromosome 20, 57016076: 57016076
21 VAPB NM_004738.4(VAPB): c.195C> A (p.Ala65=) single nucleotide variant Likely benign GRCh37 Chromosome 20, 56993403: 56993403
22 VAPB NM_004738.4(VAPB): c.195C> A (p.Ala65=) single nucleotide variant Likely benign GRCh38 Chromosome 20, 58418347: 58418347
23 VAPB NM_004738.4(VAPB): c.709A> G (p.Ile237Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 20, 57019268: 57019268
24 VAPB NM_004738.4(VAPB): c.709A> G (p.Ile237Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 20, 58444212: 58444212
25 VAPB NM_004738.4(VAPB): c.104C> T (p.Pro35Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 20, 56993312: 56993312
26 VAPB NM_004738.4(VAPB): c.104C> T (p.Pro35Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 20, 58418256: 58418256
27 VAPB NM_004738.4(VAPB): c.289A> G (p.Thr97Ala) single nucleotide variant Uncertain significance rs752091117 GRCh37 Chromosome 20, 57009735: 57009735
28 VAPB NM_004738.4(VAPB): c.289A> G (p.Thr97Ala) single nucleotide variant Uncertain significance rs752091117 GRCh38 Chromosome 20, 58434679: 58434679
29 VAPB NM_004738.4(VAPB): c.174C> T (p.Ser58=) single nucleotide variant Likely benign rs139149560 GRCh37 Chromosome 20, 56993382: 56993382
30 VAPB NM_004738.4(VAPB): c.174C> T (p.Ser58=) single nucleotide variant Likely benign rs139149560 GRCh38 Chromosome 20, 58418326: 58418326
31 VAPB NM_004738.4(VAPB): c.194C> T (p.Ala65Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 20, 58418346: 58418346
32 VAPB NM_004738.4(VAPB): c.194C> T (p.Ala65Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 20, 56993402: 56993402
33 VAPB NM_004738.4(VAPB): c.496G> A (p.Val166Ile) single nucleotide variant Uncertain significance rs538630783 GRCh38 Chromosome 20, 58441006: 58441006
34 VAPB NM_004738.4(VAPB): c.496G> A (p.Val166Ile) single nucleotide variant Uncertain significance rs538630783 GRCh37 Chromosome 20, 57016062: 57016062
35 VAPB NM_004738.4(VAPB): c.482T> C (p.Leu161Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 20, 57016048: 57016048
36 VAPB NM_004738.4(VAPB): c.482T> C (p.Leu161Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 20, 58440992: 58440992

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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