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X-linked Alport syndrome-diffuse leiomyomatosis

Disease Export to PDF
Name:
X-linked Alport syndrome-diffuse leiomyomatosis
Description:
A rare renal disease characterized by the association of X-linked Alport syndrome (glomerular nephropathy, sensorineural deafness and ocular anomalies) and benign proliferation of visceral smooth muscle cells along the gastrointestinal, respiratory, and female genital tracts and clinically manifests with dysphagia, dyspnea, cough, stridor, postprandial vomiting, retrosternal or epigastric pain, recurrent pneumonia, and clitoral hypertrophy in females.
ORPHAcode:
1018
Synonyms:
Xq22.3 microdeletion syndrome
XREF(s):
Orphanet
ICD-10
OMIM
OMIM
Analyte(s):
COL4A6
COL4A5
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Alport (X-linked and recessive) (3 genes) - UZA
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    COL4A3
    COL4A4
    COL4A5
  • Nephrotic syndrome, FSGS, Alport syndrome (76 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ACTN4 100.00 1 NM_004924.6
    AMN 100.00 1 NM_030943.4
    ANLN 100.00 1 NM_018685.5
    APOA1 100.00 1 NM_000039.3
    APOL1 100.00 1 NM_003661.4
    ARHGAP24 100.00 1 NM_001025616.3
    ARHGDIA 100.00 1 NM_004309.6
    AVIL 100.00 1 NM_006576.4
    B2M 100.00 1 NM_004048.4
    C3 100.00 1 NM_000064.4
    CD151 100.00 1 NM_004357.5
    CD2AP 100.00 1 NM_012120.3
    CLCN5 100.00 1 NM_001127898.4
    COL4A3 100.00 1 NM_000091.5
    COL4A4 100.00 1 NM_000092.5
    COL4A5 100.00 1 NM_033380.3
    COL4A6 100.00 1 NM_033641.4
    COQ2 100.00 1 NM_001358921.2
    COQ6 100.00 1 NM_182476.3
    COQ8A 100.00 1 NM_020247.5
    COQ8B 100.00 1 NM_024876.4
    CRB2 100.00 1 NM_173689.7
    CUBN 100.00 1 NM_001081.4
    DGKE 100.00 1 NM_003647.3
    EMP2 100.00 1 NM_001424.6
    FGA 100.00 1 NM_021871.4
    FN1 100.00 1 NM_212482.4
    G6PC1 100.00 1 NM_000151.4
    GLA 100.00 1 NM_000169.3
    GSN 100.00 1 NM_198252.3
    INF2 100.00 1 NM_022489.4
    KANK2 100.00 1 NM_001136191.3
    LAMB2 100.00 1 NM_002292.4
    LMX1B 100.00 1 NM_001174147.2
    LRP2 100.00 1 NM_004525.3
    LYZ 100.00 1 NM_000239.3
    MAGI2 100.00 1 NM_012301.4
    MYH9 100.00 1 NM_002473.6
    MYO1E 100.00 1 NM_004998.4
    NPHS1 100.00 1 NM_004646.4
    NPHS2 100.00 1 NM_014625.4
    NUP107 100.00 1 NM_020401.4
    NUP133 100.00 1 NM_018230.3
    NUP160 100.00 1 NM_015231.3
    NUP205 100.00 1 NM_015135.3
    NUP85 100.00 1 NM_024844.5
    NUP93 100.00 1 NM_014669.5
    OCRL 100.00 1 NM_000276.4
    PAX2 100.00 1 NM_000278.5
    PDSS2 100.00 1 NM_020381.4
    PLCE1 100.00 1 NM_016341.4
    PMM2 0.00 1 NM_000303.2 / only position Chr16(GRCh38):g.8797616 87976
    PTPRO 100.00 1 NM_030667.3
    SGPL1 100.00 1 NM_003901.4
    SLC35A1 100.00 1 NM_006416.5
    TBC1D8B 100.00 1 NM_017752.3
    TRPC6 100.00 1 NM_004621.6
    TTC21B 100.00 1 NM_024753.5
    TTR 100.00 1 NM_000371.4
    UMOD 100.00 1 NM_003361.4
    WDR73 100.00 1 NM_032856.5
    WT1 100.00 1 NM_024426.6
    GON7 100.00 1 NM_032490.5
    ITGA3 100.00 1 NM_002204.4
    KIRREL1 100.00 1 NM_018240.7
    LAGE3 100.00 1 NM_006014.5
    LAMA5 100.00 1 NM_005560.6
    NOS1AP 100.00 1 NM_014697.3
    OSGEP 100.00 1 NM_017807.4
    PODXL 94.00 1 NM_001018111.3
    SARS2 100.00 1 NM_017827.4
    SMARCAL1 100.00 1 NM_014140.4
    TP53RK 100.00 1 NM_033550.4
    TPRKB 100.00 1 NM_016058.5
    WDR4 100.00 1 NM_018669.6
    XPO5 100.00 1 NM_020750.3
    YRDC 100.00 1 NM_024640.4