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Sialuria

Disease Export to PDF
Name:
Sialuria
Description:
An extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood.
ORPHAcode:
3166
Synonyms:
Sialuria, French type
XREF(s):
Orphanet
OMIM
MeSH
MedDRA
ICD-10
Analyte(s):
GNE
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Congenital disorders of glycosylation (79 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ALDOB 95.00 0 NM_000035.3/ interpretable range CS1>95%
    ALG1 95.00 0 NM_019109.4/ interpretable range CS1>95%
    ALG10 95.00 0 NM_032834.3/ interpretable range CS1>95%
    ALG11 95.00 0 NM_001004127.2/ interpretable range CS1>95%
    ALG12 95.00 0 NM_024105.3/ interpretable range CS1>95%
    ALG13 95.00 0 NM_001099922.2/ interpretable range CS1>95%
    ALG14 95.00 0 NM_144988.3/ interpretable range CS1>95%
    ALG2 95.00 0 NM_033087.3/ interpretable range CS1>95%
    ALG3 95.00 0 NM_005787.5/ interpretable range CS1>95%
    ALG5 95.00 0 NM_013338.4/ interpretable range CS1>95%
    ALG6 95.00 0 NM_013339.3/ interpretable range CS1>95%
    ALG8 95.00 0 NM_024079.4/ interpretable range CS1>95%
    ALG9 95.00 0 NM_024740.2/ interpretable range CS1>95%
    ATP6V0A2 95.00 0 NM_012463.3/ interpretable range CS1>95%
    ATP9B 95.00 0 NM_198531.4/ interpretable range CS1>95%
    B3GLCT 95.00 0 NM_194318.3/ interpretable range CS1>95%
    B4GALT1 95.00 0 NM_001497.3/ interpretable range CS1>95%
    COG1 95.00 0 NM_018714.2/ interpretable range CS1>95%
    COG2 95.00 0 NM_007357.2/ interpretable range CS1>95%
    COG3 95.00 0 NM_031431.3/ interpretable range CS1>95%
    COG4 95.00 0 NM_015386.2/ interpretable range CS1>95%
    COG5 95.00 0 NM_006348.3/ interpretable range CS1>95%
    COG6 95.00 0 NM_020751.2/ interpretable range CS1>95%
    COG7 95.00 0 NM_153603.3/ interpretable range CS1>95%
    COG8 95.00 0 NM_032382.4/ interpretable range CS1>95%
    DAD1 95.00 0 NM_001344.3/ interpretable range CS1>95%
    DDOST 95.00 0 NM_005216.4/ interpretable range CS1>95%
    DHDDS 95.00 0 NM_024887.3/ interpretable range CS1>95%
    DOLK 95.00 0 NM_014908.3/ interpretable range CS1>95%
    DPAGT1 95.00 0 NM_001382.3/ interpretable range CS1>95%
    DPM1 95.00 0 NM_003859.2/ interpretable range CS1>95%
    DPM2 95.00 0 NM_003863.3/ interpretable range CS1>95%
    DPM3 95.00 0 NM_153741.1/ interpretable range CS1>95%
    FKRP 95.00 0 NM_024301.4/ interpretable range CS1>95%
    FKTN 95.00 0 NM_001079802.1/ interpretable range CS1>95%
    FUT1 95.00 0 NM_000148.3/ interpretable range CS1>95%
    GALE 95.00 0 NM_000403.3/ interpretable range CS1>95%
    GALK1 95.00 0 NM_000154.1/ interpretable range CS1>95%
    GALT 95.00 0 NM_000155.3/ interpretable range CS1>95%
    GFPT1 95.00 0 NM_002056.3/ interpretable range CS1>95%
    GMPPA 95.00 0 NM_205847.2/ interpretable range CS1>95%
    GMPPB 95.00 0 NM_013334.3/ interpretable range CS1>95%
    GNE 95.00 0 NM_001128227.2/ interpretable range CS1>95%
    LARGE1 95.00 0 NM_004737.6/ interpretable range CS1>95%
    MAGT1 95.00 0 NM_032121.5/ interpretable range CS1>95%
    MAN1B1 95.00 0 NM_016219.4/ interpretable range CS1>95%
    MGAT1 95.00 0 NM_001114618.1/ interpretable range CS1>95%
    MGAT2 95.00 0 NM_002408.3/ interpretable range CS1>95%
    MOGS 95.00 0 NM_006302.2/ interpretable range CS1>95%
    MPDU1 95.00 0 NM_004870.3/ interpretable range CS1>95%
    MPI 95.00 0 NM_002435.2/ interpretable range CS1>95%
    OST4 95.00 0 NM_001134693.1/ interpretable range CS1>95%
    PGM1 95.00 0 NM_002633.2/ interpretable range CS1>95%
    PGM2 95.00 0 NM_018290.3/ interpretable range CS1>95%
    PGM3 95.00 0 NM_001199917.1/ interpretable range CS1>95%
    PIGA 95.00 0 NM_002641.3/ interpretable range CS1>95%
    PIGL 95.00 0 NM_004278.3/ interpretable range CS1>95%
    PIGM 95.00 0 NM_145167.2/ interpretable range CS1>95%
    PIGN 95.00 0 NM_176787.4/ interpretable range CS1>95%
    PIGV 95.00 0 NM_017837.3/ interpretable range CS1>95%
    PMM2 95.00 0 NM_000303.2/ interpretable range CS1>95%
    POMGNT1 95.00 0 NM_017739.3/ interpretable range CS1>95%
    POMT1 95.00 0 NM_007171.3/ interpretable range CS1>95%
    POMT2 95.00 0 NM_013382.5/ interpretable range CS1>95%
    RFT1 95.00 0 NM_052859.3/ interpretable range CS1>95%
    RPN1 95.00 0 NM_002950.3/ interpretable range CS1>95%
    RPN2 95.00 0 NM_002951.4/ interpretable range CS1>95%
    SEC23B 95.00 0 NM_032985.5/ interpretable range CS1>95%
    SLC35A1 95.00 0 NM_006416.4/ interpretable range CS1>95%
    SLC35A3 95.00 0 NM_012243.2/ interpretable range CS1>95%
    SLC35C1 95.00 0 NM_018389.4/ interpretable range CS1>95%
    SLC35D1 95.00 0 NM_015139.2/ interpretable range CS1>95%
    SRD5A3 95.00 0 NM_024592.4/ interpretable range CS1>95%
    ST3GAL3 95.00 0 NM_174963.4/ interpretable range CS1>95%
    ST3GAL5 95.00 0 NM_003896.3/ interpretable range CS1>95%
    STT3A 95.00 0 NM_152713.4/ interpretable range CS1>95%
    STT3B 95.00 0 NM_178862.2/ interpretable range CS1>95%
    TMEM165 95.00 0 NM_018475.4/ interpretable range CS1>95%
    TUSC3 95.00 0 NM_006765.3/ interpretable range CS1>95%
  • 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%