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Sitosterolemia

Disease Export to PDF
Name:
Sitosterolemia
Description:
Sitosterolemia is a rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in ABCG5 (2p21) and ABCG8 (2p21) genes.
ORPHAcode:
2882
Synonyms:
Phytosterolemia
XREF(s):
Orphanet
MeSH
OMIM
OMIM
MedDRA
ICD-10
Analyte(s):
ABCG5
ABCG8
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Dyslipidemia ( 13 genes) - ULB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCG5 100.00 1 In case of hypercholesterolemia / NM_022436.2
    ABCG8 100.00 1 In case of hypercholesterolemia / NM_022437.2
    APOB 100.00 1 In case of hypercholesterolemia / NM_000384.2
    APOE 100.00 1 In case of hypercholesterolemia / NM_000041.3
    LDLR 100.00 1 In case of hypercholesterolemia / NM_000527.4
    LDLRAP1 100.00 1 In case of hypercholesterolemia / NM_015627.2
    LIPA 100.00 1 In case of hypercholesterolemia / NM_000235.3
    PCSK9 100.00 1 In case of hypercholesterolemia / NM_174936.3
    LPL 100.00 1 In case of hypertriglyceridemia / NM_000237.2
    APOC2 100.00 1 In case of hypertriglyceridemia / NM_000483.4
    APOA5 100.00 1 In case of hypertriglyceridemia / NM_052968.4
    GPIHBP1 100.00 1 In case of hypertriglyceridemia / NM_178172.5
    LMF1 100.00 1 In case of hypertriglyceridemia / NM_022773.3
  • Familial Hypercholesterolemia panel (9 genes) - ULG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    LDLR 100.00 1 only for 5'UTR + coding exons + intronic borders +/-14pb
    APOB 99.79 0 only for coding exons and intronic borders +/-14pb Exons 26 and 29 are entirely covered at 30x Exon 1 is not covered
    APOE 100.00 0 only for coding exons and intronic borders +/-14pb
    PCSK9 100.00 0 only for coding exons and intronic borders +/-14pb
    LDLRAP1 98.69 0 only for coding exons and intronic borders +/-14pb exon 1 is not covered
    LIPA 100.00 0 only for coding exons and intronic borders +/-14pb
    ABCG5 100.00 0 only for coding exons and intronic borders +/-14pb
    ABCG8 100.00 0 only for coding exons and intronic borders +/-14pb
    STAP1 100.00 0 only for coding exons and intronic borders +/-14pb
  • Trombosis - Hemostasis (107 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCC4 95.00 0 NM_005845.4/ interpretable range CS1>95%
    ABCG5 95.00 0 NM_022436.2/ interpretable range CS1>95%
    ABCG8 95.00 0 NM_022437.2/ interpretable range CS1>95%
    ACTB 95.00 0 NM_001101.4/ interpretable range CS1>95%
    ACTN1 95.00 0 NM_001130004.1/ interpretable range CS1>95%
    ACVRL1 95.00 0 NM_000020.2/ interpretable range CS1>95%
    ADAMTS13 95.00 0 NM_139025.4/ interpretable range CS1>95%
    ANKRD26 95.00 0 NM_014915.2/ interpretable range CS1>95%
    ANO6 95.00 0 NM_001025356.2/ interpretable range CS1>95%
    AP3B1 95.00 0 NM_003664.4/ interpretable range CS1>95%
    AP3D1 95.00 0 NM_001261826.1/ interpretable range CS1>95%
    ARPC1B 95.00 0 NM_005720.3/ interpretable range CS1>95%
    BLOC1S3 95.00 0 NM_212550.3/ interpretable range CS1>95%
    BLOC1S5 95.00 0 NM_201280.2/ interpretable range CS1>95%
    BLOC1S6 95.00 0 NM_012388.2/ interpretable range CS1>95%
    CDC42 95.00 0 NM_001791.3/ interpretable range CS1>95%
    CHST14 95.00 0 NM_130468.3/ interpretable range CS1>95%
    COL1A1 95.00 0 NM_000088.3/ interpretable range CS1>95%
    COL3A1 95.00 0 NM_000090.3/ interpretable range CS1>95%
    COL4A1 95.00 0 NM_001845.5/ interpretable range CS1>95%
    COL4A2 95.00 0 NM_001846.3/ interpretable range CS1>95%
    COL5A1 95.00 0 NM_000093.4/ interpretable range CS1>95%
    COL5A2 95.00 0 NM_000393.3/ interpretable range CS1>95%
    CYCS 95.00 0 NM_018947.5/ interpretable range CS1>95%
    DIAPH1 95.00 0 NM_005219.4/ interpretable range CS1>95%
    DTNBP1 95.00 0 NM_032122.4/ interpretable range CS1>95%
    ENG 95.00 0 NM_000118.3/ interpretable range CS1>95%
    ETV6 95.00 0 NM_001987.4/ interpretable range CS1>95%
    F10 95.00 0 NM_000504.3/ interpretable range CS1>95%
    F11 95.00 0 NM_000128.3/ interpretable range CS1>95%
    F12 95.00 0 NM_000505.3/ interpretable range CS1>95%
    F13A1 95.00 0 NM_000129.3/ interpretable range CS1>95%
    F13B 95.00 0 NM_001994.2/ interpretable range CS1>95%
    F2 95.00 0 NM_000506.3/ interpretable range CS1>95%
    F5 95.00 0 NM_000130.4/ interpretable range CS1>95%
    F7 95.00 0 NM_000131.4/ interpretable range CS1>95%
    F8 95.00 0 NM_000132.3/ interpretable range CS1>95%
    F9 95.00 0 NM_000133.3/ interpretable range CS1>95%
    FERMT3 95.00 0 NM_031471.5/ interpretable range CS1>95%
    FGA 95.00 0 NM_021871.2/ interpretable range CS1>95%
    FGB 95.00 0 NM_005141.4/ interpretable range CS1>95%
    FGG 95.00 0 NM_000509.4/ interpretable range CS1>95%
    FLII 95.00 0 NM_002017.4/ interpretable range CS1>95%
    FLNA 95.00 0 NM_001456.3/ interpretable range CS1>95%
    FYB1 95.00 0 NM_001465.5/ interpretable range CS1>95%
    GATA1 95.00 0 NM_002049.3/ interpretable range CS1>95%
    GDF2 95.00 0 NM_016204.3/ interpretable range CS1>95%
    GFI1B 95.00 0 NM_004188.5/ interpretable range CS1>95%
    GGCX 95.00 0 NM_000821.5/ interpretable range CS1>95%
    GNE 95.00 0 NM_001128227.2/ interpretable range CS1>95%
    GP1BA 95.00 0 NM_000173.6/ interpretable range CS1>95%
    GP1BB 95.00 0 NM_000407.4/ interpretable range CS1>95%
    GP6 95.00 0 NM_001083899.2/ interpretable range CS1>95%
    GP9 95.00 0 NM_000174.4/ interpretable range CS1>95%
    HOXA11 95.00 0 NM_005523.5/ interpretable range CS1>95%
    HPS1 95.00 0 NM_000195.3/ interpretable range CS1>95%
    HPS3 95.00 0 NM_032383.3/ interpretable range CS1>95%
    HPS4 95.00 0 NM_022081.5/ interpretable range CS1>95%
    HPS5 95.00 0 NM_181507.1/ interpretable range CS1>95%
    HPS6 95.00 0 NM_024747.5/ interpretable range CS1>95%
    HRG 95.00 0 NM_000412.3/ interpretable range CS1>95%
    IKZF5 95.00 0 NM_001271840.1/ interpretable range CS1>95%
    ITGA2B 95.00 0 NM_000419.3/ interpretable range CS1>95%
    ITGB3 95.00 0 NM_000212.2/ interpretable range CS1>95%
    KDSR 95.00 0 NM_002035.2/ interpretable range CS1>95%
    KNG1 95.00 0 NM_001102416.2/ interpretable range CS1>95%
    LMAN1 95.00 0 NM_005570.3/ interpretable range CS1>95%
    LYST 95.00 0 NM_000081.3/ interpretable range CS1>95%
    MCFD2 95.00 0 NM_139279.5/ interpretable range CS1>95%
    MECOM 95.00 0 NM_001105078.3/ interpretable range CS1>95%
    MPIG6B 95.00 0 NM_025260.3/ interpretable range CS1>95%
    MPL 95.00 0 NM_005373.2/ interpretable range CS1>95%
    MYH9 95.00 0 NM_002473.5/ interpretable range CS1>95%
    NBEA 95.00 0 NM_015678.4/ interpretable range CS1>95%
    NBEAL2 95.00 0 NM_015175.2/ interpretable range CS1>95%
    P2RY12 95.00 0 NM_022788.4/ interpretable range CS1>95%
    PIGA 95.00 0 NM_002641.3/ interpretable range CS1>95%
    PLA2G4A 95.00 0 NM_024420.2/ interpretable range CS1>95%
    PLAU 95.00 0 NM_002658.3/ interpretable range CS1>95%
    PLG 95.00 0 NM_000301.3/ interpretable range CS1>95%
    PROC 95.00 0 NM_000312.3/ interpretable range CS1>95%
    PROS1 95.00 0 NM_000313.3/ interpretable range CS1>95%
    PTGS1 95.00 0 NM_000962.3/ interpretable range CS1>95%
    RASGRP2 95.00 0 NM_153819.1/ interpretable range CS1>95%
    RBM8A 95.00 0 NM_005105.4/ interpretable range CS1>95%
    RUNX1 95.00 0 NM_001754.4/ interpretable range CS1>95%
    SERPINC1 95.00 0 NM_000488.3/ interpretable range CS1>95%
    SERPIND1 95.00 0 NM_000185.3/ interpretable range CS1>95%
    SERPINE1 95.00 0 NM_000602.4/ interpretable range CS1>95%
    SERPINF2 95.00 0 NM_000934.3/ interpretable range CS1>95%
    SLFN14 95.00 0 NM_001129820.1/ interpretable range CS1>95%
    SMAD4 95.00 0 NM_005359.5/ interpretable range CS1>95%
    SRC 95.00 0 NM_005417.4/ interpretable range CS1>95%
    STIM1 95.00 0 NM_003156.3/ interpretable range CS1>95%
    STXBP2 95.00 0 NM_006949.3/ interpretable range CS1>95%
    TBXA2R 95.00 0 NM_001060.5/ interpretable range CS1>95%
    TBXAS1 95.00 0 NM_001061.4/ interpretable range CS1>95%
    THBD 95.00 0 NM_000361.2/ interpretable range CS1>95%
    THPO 95.00 0 NM_000460.3/ interpretable range CS1>95%
    TPM4 95.00 0 NM_001145160.1/ interpretable range CS1>95%
    TUBB1 95.00 0 NM_030773.3/ interpretable range CS1>95%
    VIPAS39 95.00 0 NM_022067.3/ interpretable range CS1>95%
    VKORC1 95.00 0 NM_024006.4/ interpretable range CS1>95%
    VPS33B 95.00 0 NM_018668.4/ interpretable range CS1>95%
    VWF 95.00 0 NM_000552.3/ interpretable range CS1>95%
    WAS 95.00 0 NM_000377.2/ interpretable range CS1>95%
    RAP1B 95.00 -2 NM_015646.6/ interpretable range CS1>95%