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Proximal spinal muscular atrophy type 3

Disease Export to PDF
Name:
Proximal spinal muscular atrophy type 3
Description:
A rare, genetic proximal spinal muscular atrophy characterized by degeneration of alpha motor neurons in the anterior horns of the spinal cord and lower brain stem manifesting with onset of progressive proximal muscle weakness (legs greater than arms) between 18 months and adulthood. Motor development is heterogeneous but walking is typically acquired.
ORPHAcode:
83419
Synonyms:
Juvenile spinal muscular atrophy
Kugelberg-Welander disease
SMA type 3
SMA type III
SMA-III
SMA3
XREF(s):
Orphanet
ICD-10
OMIM
Analyte(s):
SMN2
NAIP
SMN1
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Neuromuscular disorders (166 genes) - VUB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ACADVL 0.00 0 No value for column 2
    ACTA1 0.00 0 No value for column 2
    AGRN 0.00 0 No value for column 2
    ALDOA 0.00 0 No value for column 2
    ALG14 0.00 0 No value for column 2
    ALG2 99.94 0 No comment
    ALS2 100.00 0 No comment
    ANG 100.00 0 No comment
    ANO5 100.00 0 No comment
    ASAH1 99.94 0 No comment
    ATP7A 100.00 0 No comment
    ATXN2 89.10 0 No comment
    B3GALNT2 85.88 0 No comment
    B4GAT1 100.00 0 No comment
    BAG3 100.00 0 No comment
    BICD2 100.00 0 No comment
    BIN1 100.00 0 No comment
    BSCL2 100.00 0 No comment
    C9ORF72 100.00 0 No comment
    CAV3 100.00 0 No comment
    CFL2 99.75 0 No comment
    CHAT 100.00 0 No comment
    CHKB 99.69 0 No comment
    CHRNA1 100.00 0 No comment
    CHRNB1 100.00 0 No comment
    CHRND 100.00 0 No comment
    CHRNE 100.00 0 No comment
    CHRNG 100.00 0 No comment
    COL6A1 100.00 0 No comment
    COL6A2 100.00 0 No comment
    COL6A3 100.00 0 No comment
    COLQ 100.00 0 No comment
    CPT2 98.71 0 No comment
    CRPPA 95.75 0 No comment
    CRYAB 100.00 0 No comment
    DAG1 100.00 0 No comment
    DAO 100.00 0 No comment
    DCTN1 100.00 0 No comment
    DES 100.00 0 No comment
    DGUOK 100.00 0 No comment
    DMD 100.00 0 No comment
    DNAJB2 100.00 0 No comment
    DNAJB6 99.34 0 No comment
    DNM2 99.95 0 No comment
    DOK7 98.77 0 No comment
    DOLK 100.00 0 No comment
    DPAGT1 100.00 0 No comment
    DPM1 100.00 0 No comment
    DPM2 100.00 0 No comment
    DPM3 100.00 0 No comment
    DYNC1H1 100.00 0 No comment
    DYSF 100.00 0 No comment
    ECEL1 95.92 0 No comment
    EMD 99.84 0 No comment
    ENO3 100.00 0 No comment
    ETFA 100.00 0 No comment
    ETFB 100.00 0 No comment
    ETFDH 100.00 0 No comment
    EXOSC3 100.00 0 No comment
    FBLN5 100.00 0 No comment
    FBXO38 100.00 0 No comment
    FDX2 100.00 0 No comment
    CFH 100.00 0 No comment
    FKRP 98.68 0 No comment
    FKTN 100.00 0 No comment
    FLNC 100.00 0 No comment
    FUS 100.00 0 No comment
    GAA 100.00 0 No comment
    GARS1 99.53 0 No comment
    GFPT1 99.98 0 No comment
    GLE1 100.00 0 No comment
    GMPPB 100.00 0 No comment
    GNE 100.00 0 No comment
    GRN 100.00 0 No comment
    HADHA 100.00 0 No comment
    HADHB 100.00 0 No comment
    HARS1 100.00 0 No comment
    HEXB 99.82 0 No comment
    HNRNPA1 99.61 0 No comment
    HNRNPA2B1 100.00 0 No comment
    HSPB1 100.00 0 No comment
    HSPB3 100.00 0 No comment
    HSPB8 100.00 0 No comment
    IGHMBP2 100.00 0 No comment
    ISCU 99.39 0 No comment
    KBTBD13 97.91 0 No comment
    KLHL40 100.00 0 No comment
    KLHL9 100.00 0 No comment
    LAMA2 100.00 0 No comment
    LAMB2 100.00 0 No comment
    LARGE1 100.00 0 No comment
    LAS1L 100.00 0 No comment
    LDB3 100.00 0 No comment
    LMNA 99.93 0 No comment
    LPIN1 100.00 0 No comment
    CORIN 98.90 0 No comment
    MATR3 100.00 0 No comment
    MEGF10 100.00 0 No comment
    MTM1 100.00 0 No comment
    MUSK 100.00 0 No comment
    MYBPC3 100.00 0 No comment
    MYH7B 100.00 0 No comment
    MYH3 100.00 0 No comment
    MYH7 100.00 0 No comment
    MYH8 100.00 0 No comment
    MYOT 100.00 0 No comment
    NEB 99.99 0 No comment
    NEFH 84.73 0 No comment
    OPTN 100.00 0 No comment
    PABPN1 91.84 0 No comment
    PFKM 100.00 0 No comment
    PFN1 100.00 0 No comment
    PGAM2 100.00 0 No comment
    PGK1 100.00 0 No comment
    PGM1 100.00 0 No comment
    PHKA1 100.00 0 No comment
    PHKB 100.00 0 No comment
    PLEC 99.82 0 No comment
    PLEKHG5 99.10 0 No comment
    POLG 100.00 0 No comment
    POMGNT1 100.00 0 No comment
    POMGNT2 100.00 0 No comment
    POMK 100.00 0 No comment
    POMT1 100.00 0 No comment
    POMT2 99.90 0 No comment
    PREPL 100.00 0 No comment
    PYGM 100.00 0 No comment
    QDPR 99.04 0 No comment
    RAPSN 100.00 0 No comment
    REEP1 97.37 0 No comment
    RXYLT1 99.84 0 No comment
    RYR1 98.38 0 No comment
    SCN4A 100.00 0 No comment
    SELENON 84.04 0 No comment
    SETX 100.00 0 No comment
    SIGMAR1 96.60 0 No comment
    SIL1 100.00 0 No comment
    SLC18A3 100.00 0 No comment
    SLC52A2 100.00 0 No comment
    SLC52A3 100.00 0 No comment
    SLC5A7 100.00 0 No comment
    SMN1 96.55 0 No comment
    SNAP25 100.00 0 No comment
    SOD1 100.00 0 No comment
    SQSTM1 93.68 0 No comment
    SYT2 100.00 0 No comment
    TAF15 100.00 0 No comment
    TARDBP 100.00 0 No comment
    TFG 100.00 0 No comment
    TIA1 100.00 0 No comment
    TNNI2 100.00 0 No comment
    TNNT1 98.58 0 No comment
    TNNT3 100.00 0 No comment
    TNPO3 100.00 0 No comment
    TPM2 100.00 0 No comment
    TPM3 99.55 0 No comment
    TRPV4 100.00 0 No comment
    TSEN54 94.23 0 No comment
    TTN 100.00 0 No comment
    UBA1 100.00 0 No comment
    UBQLN2 99.88 0 No comment
    UNC13A 99.87 0 No comment
    VAPB 100.00 0 No comment
    VCP 98.45 0 No comment
    VEGFA 98.73 0 No comment
    VRK1 100.00 0 No comment