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  2. Urocanic aciduria

Urocanic aciduria

Disease Export to PDF
Name:
Urocanic aciduria
Description:
A rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia.
ORPHAcode:
210128
Synonyms:
Encephalopathy due to urocanase deficiency
XREF(s):
Orphanet
ICD-10
OMIM
Analyte(s):
UROC1
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Metabolic disorders (213 genes) - VUB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABAT 100.00 0 No comment
    ABCD1 99.93 0 No comment
    ACAT1 97.28 0 No comment
    ACOX1 100.00 0 No comment
    AGL 99.98 0 No comment
    AGPS 100.00 0 No comment
    AGXT 100.00 0 No comment
    ALDH18A1 100.00 0 No comment
    ALDH7A1 100.00 0 No comment
    ALDOA 100.00 0 No comment
    ALDOB 100.00 0 No comment
    ALG1 92.65 0 No comment
    ALG10 100.00 0 No comment
    ALG11 100.00 0 No comment
    ALG12 100.00 0 No comment
    ALG13 99.96 0 No comment
    ALG14 100.00 0 No comment
    ALG2 99.94 0 No comment
    ALG3 99.22 0 No comment
    ALG5 99.99 0 No comment
    ALG6 100.00 0 No comment
    ALG8 95.91 0 No comment
    ALG9 98.65 0 No comment
    AMACR 99.83 0 No comment
    AMT 99.94 0 No comment
    ASPA 100.00 0 No comment
    ATP6AP1 99.51 0 No comment
    ATP6V0A2 100.00 0 No comment
    ATP6V1A 100.00 0 No comment
    ATP6V1E1 100.00 0 No comment
    ATP7A 100.00 0 No comment
    ATP9B 99.97 0 No comment
    B3GALNT2 85.88 0 No comment
    B3GALT6 56.12 0 No comment
    B3GAT3 95.56 0 No comment
    B3GLCT 94.89 0 No comment
    B4GALNT1 100.00 0 No comment
    B4GALT1 100.00 0 No comment
    B4GALT7 93.23 0 No comment
    BCKDHA 100.00 0 No comment
    BCKDHB 100.00 0 No comment
    BTD 100.00 0 No comment
    CAD 100.00 0 No comment
    CCDC115 100.00 0 No comment
    CHST14 98.57 0 No comment
    CHST3 100.00 0 No comment
    CHST6 100.00 0 No comment
    CHSY1 91.67 0 No comment
    COG1 99.24 0 No comment
    COG2 100.00 0 No comment
    COG3 100.00 0 No comment
    COG4 100.00 0 No comment
    COG5 100.00 0 No comment
    COG6 100.00 0 No comment
    COG7 100.00 0 No comment
    COG8 100.00 0 No comment
    CRPPA 95.75 0 No comment
    CTH 100.00 0 No comment
    D2HGDH 100.00 0 No comment
    DAD1 100.00 0 No comment
    DBH 100.00 0 No comment
    DBT 100.00 0 No comment
    DDC 100.00 0 No comment
    DDOST 100.00 0 No comment
    DHDDS 100.00 0 No comment
    DNM1L 100.00 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
    ENO3 100.00 0 No comment
    EOGT 100.00 0 No comment
    EXT1 100.00 0 No comment
    EXT2 100.00 0 No comment
    FANCA 100.00 0 No comment
    FKRP 98.68 0 No comment
    FKTN 100.00 0 No comment
    FUT1 100.00 0 No comment
    G6PC1 100.00 0 No comment
    GAA 100.00 0 No comment
    GABRG2 92.03 0 No comment
    GALE 100.00 0 No comment
    GALK1 99.95 0 No comment
    GALNT3 100.00 0 No comment
    GALT 100.00 0 No comment
    GAMT 98.60 0 No comment
    GANAB 100.00 0 No comment
    GATM 99.26 0 No comment
    GBE1 100.00 0 No comment
    GCDH 100.00 0 No comment
    GCH1 96.30 0 No comment
    GCSH 76.04 0 No comment
    GFPT1 99.98 0 No comment
    GLDC 96.53 0 No comment
    GMPPA 100.00 0 No comment
    GMPPB 100.00 0 No comment
    GNE 100.00 0 No comment
    GNMT 100.00 0 No comment
    GNPAT 100.00 0 No comment
    GYS1 100.00 0 No comment
    GYS2 100.00 0 No comment
    HGD 100.00 0 No comment
    HLCS 100.00 0 No comment
    HMGCL 100.00 0 No comment
    HPRT1 94.60 0 No comment
    HSD17B4 100.00 0 No comment
    IVD 100.00 0 No comment
    LAMP2 100.00 0 No comment
    LARGE1 100.00 0 No comment
    LDHA 100.00 0 No comment
    LFNG 82.55 0 No comment
    MAGT1 100.00 0 No comment
    MAN1B1 99.99 0 No comment
    MAOA 99.95 0 No comment
    MCCC1 100.00 0 No comment
    MCCC2 99.99 0 No comment
    MGAT2 100.00 0 No comment
    MMAA 100.00 0 No comment
    MMAB 100.00 0 No comment
    MMACHC 100.00 0 No comment
    MOGS 98.73 0 No comment
    MPDU1 100.00 0 No comment
    MPI 100.00 0 No comment
    MMUT 100.00 0 No comment
    NANS 100.00 0 No comment
    NGLY1 99.98 0 No comment
    NUS1 100.00 0 No comment
    OAT 100.00 0 No comment
    OST4 100.00 0 No comment
    PCCA 100.00 0 No comment
    PCCB 99.98 0 No comment
    PEX1 100.00 0 No comment
    PEX10 88.47 0 No comment
    PEX11B 100.00 0 No comment
    PEX12 100.00 0 No comment
    PEX13 100.00 0 No comment
    PEX14 100.00 0 No comment
    PEX16 100.00 0 No comment
    PEX19 100.00 0 No comment
    PEX2 100.00 0 No comment
    PEX26 100.00 0 No comment
    PEX3 100.00 0 No comment
    PEX5 100.00 0 No comment
    PEX6 98.56 0 No comment
    PEX7 91.13 0 No comment
    PFKM 100.00 0 No comment
    PGAM2 100.00 0 No comment
    PGAP1 100.00 0 No comment
    PGAP2 100.00 0 No comment
    PGAP3 99.90 0 No comment
    PGM1 100.00 0 No comment
    PGM2 100.00 0 No comment
    PGM3 99.99 0 No comment
    PHGDH 100.00 0 No comment
    PHKA1 100.00 0 No comment
    PHKA2 100.00 0 No comment
    PHKB 100.00 0 No comment
    PHKG2 100.00 0 No comment
    PIGA 100.00 0 No comment
    PIGC 100.00 0 No comment
    PIGG 100.00 0 No comment
    PIGL 100.00 0 No comment
    PIGM 100.00 0 No comment
    PIGN 100.00 0 No comment
    PIGO 100.00 0 No comment
    PIGV 100.00 0 No comment
    PIGW 100.00 0 No comment
    PIGY 100.00 0 No comment
    PMM2 100.00 0 No comment
    PNPO 100.00 0 No comment
    POFUT1 100.00 0 No comment
    POGLUT1 100.00 0 No comment
    POMGNT1 100.00 0 No comment
    POMT1 100.00 0 No comment
    POMT2 99.90 0 No comment
    PRKCSH 100.00 0 No comment
    PSAT1 100.00 0 No comment
    PYGL 100.00 0 No comment
    PYGM 100.00 0 No comment
    RFT1 100.00 0 No comment
    RPN1 100.00 0 No comment
    RPN2 100.00 0 No comment
    RXYLT1 99.84 0 No comment
    SCP2 100.00 0 No comment
    SEC23B 100.00 0 No comment
    SLC25A22 100.00 0 No comment
    SLC2A1 99.94 0 No comment
    SLC35A1 100.00 0 No comment
    SLC35A2 100.00 0 No comment
    SLC35A3 100.00 0 No comment
    SLC35C1 100.00 0 No comment
    SLC35D1 99.99 0 No comment
    SLC39A8 97.00 0 No comment
    SLC3A1 100.00 0 No comment
    SLC6A19 100.00 0 No comment
    SLC6A8 98.78 0 No comment
    SLC7A9 100.00 0 No comment
    SPR 96.81 0 No comment
    SRD5A3 99.42 0 No comment
    SSR3 100.00 0 No comment
    SSR4 99.93 0 No comment
    ST3GAL3 100.00 0 No comment
    ST3GAL5 92.64 0 No comment
    STT3A 100.00 0 No comment
    STT3B 99.25 0 No comment
    TMEM165 89.91 0 No comment
    TMEM199 100.00 0 No comment
    TRAPPC11 100.00 0 No comment
    TUSC3 100.00 0 No comment
    VPS13B 99.25 0 No comment
    XYLT1 88.83 0 No comment
    XYLT2 98.70 0 No comment