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Chronic visceral acid sphingomyelinase deficiency

Disease Export to PDF
Name:
Chronic visceral acid sphingomyelinase deficiency
Description:
A rare autosomal recessive, chronic, acid sphingomyelinase deficiency characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, interstitial lung disease and absence of neurodegenerative disorders.
ORPHAcode:
77293
Synonyms:
Chronic visceral ASMD
NPD-B
Niemann-Pick disease type B
XREF(s):
Orphanet
MeSH
ICD-10
OMIM
Analyte(s):
SMPD1
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Cholestasis (40 genes) - UCL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCB11 100.00 1 Part of Gastro-pneumo panel
    ABCB4 100.00 1 Part of Gastro-pneumo panel
    AKR1D1 100.00 1 Part of Gastro-pneumo panel
    AMACR 100.00 1 Part of Gastro-pneumo panel
    ATP8B1 100.00 1 Part of Gastro-pneumo panel
    BAAT 100.00 1 Part of Gastro-pneumo panel
    BCS1L 100.00 1 Part of Gastro-pneumo panel
    CC2D2A 100.00 1 Part of Gastro-pneumo panel
    CLDN1 100.00 1 Part of Gastro-pneumo panel
    CYP27A1 100.00 1 Part of Gastro-pneumo panel
    CYP7B1 100.00 1 Part of Gastro-pneumo panel
    DCDC2 100.00 1 Part of Gastro-pneumo panel
    DGUOK 100.00 1 Part of Gastro-pneumo panel
    HNF1B 100.00 1 Part of Gastro-pneumo panel
    HSD3B7 100.00 1 Part of Gastro-pneumo panel
    INVS 100.00 1 Part of Gastro-pneumo panel
    JAG1 100.00 1 Part of Gastro-pneumo panel
    MKS1 100.00 1 Part of Gastro-pneumo panel
    MPV17 100.00 1 Part of Gastro-pneumo panel
    NOTCH2 100.00 1 Part of Gastro-pneumo panel
    NPC1 100.00 1 Part of Gastro-pneumo panel
    NPC2 100.00 1 Part of Gastro-pneumo panel
    NPHP1 100.00 1 Part of Gastro-pneumo panel
    NPHP3 100.00 1 Part of Gastro-pneumo panel
    NPHP4 100.00 1 Part of Gastro-pneumo panel
    NR1H4 100.00 1 Part of Gastro-pneumo panel
    PKHD1 100.00 1 Part of Gastro-pneumo panel
    PNPLA3 0.00 1 Part of Gastro-pneumo panel / only rs738409 and rs2294918
    POLG 100.00 1 Part of Gastro-pneumo panel
    SLC25A13 100.00 1 Part of Gastro-pneumo panel
    SMPD1 100.00 1 Part of Gastro-pneumo panel
    TALDO1 100.00 1 Part of Gastro-pneumo panel
    TJP2 100.00 1 Part of Gastro-pneumo panel
    TM6SF2 0.00 1 Part of Gastro-pneumo panel / only rs58542926
    TMC4 0.00 1 Part of Gastro-pneumo panel / only rs641738
    TMEM216 100.00 1 Part of Gastro-pneumo panel
    TRMU 100.00 1 Part of Gastro-pneumo panel
    UGT1A1 100.00 1 Part of Gastro-pneumo panel
    VIPAS39 100.00 1 Part of Gastro-pneumo panel
    VPS33B 100.00 1 Part of Gastro-pneumo panel
  • Lysomal Storage (64 genes) - VUB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ADCY5 94.52 0 No comment
    AGA 100.00 0 No comment
    ARSA 100.00 0 No comment
    SLURP1 85.73 0 No comment
    ASAH1 99.94 0 No comment
    CHIT1 100.00 0 No comment
    CLN3 100.00 0 No comment
    CLN5 99.94 0 No comment
    CLN6 90.35 0 No comment
    CLN8 100.00 0 No comment
    CTNS 100.00 0 No comment
    CTSA 100.00 0 No comment
    CTSC 100.00 0 No comment
    CTSD 99.45 0 No comment
    CTSK 100.00 0 No comment
    DGUOK 100.00 0 No comment
    FBXL4 100.00 0 No comment
    FUCA1 100.00 0 No comment
    GAA 100.00 0 No comment
    GALC 98.44 0 No comment
    GALNS 96.18 0 No comment
    GBA1 100.00 0 No comment
    GLA 100.00 0 No comment
    GLB1 100.00 0 No comment
    GM2A 100.00 0 No comment
    GNPTAB 100.00 0 No comment
    GNPTG 94.69 0 No comment
    GNS 100.00 0 No comment
    GUSB 100.00 0 No comment
    HEXA 100.00 0 No comment
    HEXB 99.82 0 No comment
    HGSNAT 93.95 0 No comment
    HYAL1 100.00 0 No comment
    IDS 100.00 0 No comment
    IDUA 88.67 0 No comment
    LAMP2 100.00 0 No comment
    LIPA 100.00 0 No comment
    MAN2B1 100.00 0 No comment
    MANBA 99.97 0 No comment
    MCOLN1 97.27 0 No comment
    MFSD8 100.00 0 No comment
    MGME1 100.00 0 No comment
    MPV17 100.00 0 No comment
    NAGA 100.00 0 No comment
    NAGLU 87.38 0 No comment
    NEU1 100.00 0 No comment
    NPC1 98.40 0 No comment
    NPC2 100.00 0 No comment
    OCRL 99.77 0 No comment
    POLG 100.00 0 No comment
    PPT1 100.00 0 No comment
    PSAP 100.00 0 No comment
    RRM2B 100.00 0 No comment
    SGSH 99.99 0 No comment
    SLC17A5 100.00 0 No comment
    SMPD1 100.00 0 No comment
    STS 100.00 0 No comment
    SUCLA2 100.00 0 No comment
    SUCLG1 95.74 0 No comment
    SUMF1 100.00 0 No comment
    TK2 95.90 0 No comment
    ACD 100.00 0 No comment
    TWNK 100.00 0 No comment
    TYMP 91.72 0 No comment