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Obesity due to leptin receptor gene deficiency

Disease Export to PDF
Name:
Obesity due to leptin receptor gene deficiency
Description:
A rare, genetic, non-syndromic, obesity disease characterized by severe, early-onset obesity, associated with major hyperphagia and endocrine abnormalities, resulting from leptin receptor deficiency.
ORPHAcode:
179494
XREF(s):
Orphanet
ICD-10
OMIM
Analyte(s):
LEPR
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Early-onset severe obesity (44 genes) - ULG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ADCY3 100.00 0 only for coding exons and intronic borders +/-14pb
    ALMS1 100.00 0 only for coding exons and intronic borders +/-14pb
    BBS1 100.00 0 only for coding exons and intronic borders +/-14pb
    BBS2 100.00 0 only for coding exons and intronic borders +/-14pb
    ARL6 100.00 0 only for coding exons and intronic borders +/-14pb
    BBS4 100.00 0 only for coding exons and intronic borders +/-14pb
    BBS5 100.00 0 only for coding exons and intronic borders +/-14pb
    MKKS 100.00 0 only for coding exons and intronic borders +/-14pb
    BBS7 100.00 0 only for coding exons and intronic borders +/-14pb
    TTC8 100.00 0 only for coding exons and intronic borders +/-14pb
    BBS9 99.99 0 only for coding exons and intronic borders +/-14pb
    BBS10 100.00 0 only for coding exons and intronic borders +/-14pb
    TRIM32 100.00 0 only for coding exons and intronic borders +/-14pb
    BBS12 100.00 0 only for coding exons and intronic borders +/-14pb
    MKS1 100.00 0 only for coding exons and intronic borders +/-14pb
    CEP290 99.99 0 only for coding exons and intronic borders +/-14pb
    WDPCP 100.00 0 only for coding exons and intronic borders +/-14pb
    SDCCAG8 100.00 0 only for coding exons and intronic borders +/-14pb
    LZTFL1 100.00 0 only for coding exons and intronic borders +/-14pb
    BBIP1 100.00 0 only for coding exons and intronic borders +/-14pb
    IFT27 100.00 0 only for coding exons and intronic borders +/-14pb
    BDNF 100.00 0 only for coding exons and intronic borders +/-14pb
    CREBBP 99.99 0 only for coding exons and intronic borders +/-14pb
    EP300 99.99 0 only for coding exons and intronic borders +/-14pb
    GNAS 99.34 0 only for coding exons and intronic borders +/-14pb
    INPP5E 97.02 0 only for coding exons and intronic borders +/-14pb
    LEP 100.00 1 only for coding exons and intronic borders +/-14pb
    LEPR 99.99 1 only for coding exons and intronic borders +/-14pb
    MAGEL2 99.54 0 only for coding exons and intronic borders +/-14pb
    MC3R 100.00 1 only for coding exons and intronic borders +/-14pb
    MC4R 100.00 1 only for coding exons and intronic borders +/-14pb
    MYT1L 100.00 0 only for coding exons and intronic borders +/-14pb
    NTRK2 100.00 0 only for coding exons and intronic borders +/-14pb
    PCSK1 99.99 0 only for coding exons and intronic borders +/-14pb
    PHF6 99.98 0 only for coding exons and intronic borders +/-14pb
    POMC 99.97 1 only for coding exons and intronic borders +/-14pb
    RAB23 100.00 0 only for coding exons and intronic borders +/-14pb
    SETD2 100.00 0 only for coding exons and intronic borders +/-14pb
    SH2B1 100.00 1 only for coding exons and intronic borders +/-14pb
    SIM1 100.00 1 only for coding exons and intronic borders +/-14pb
    TBX3 98.58 0 only for coding exons and intronic borders +/-14pb
    TUB 100.00 0 only for coding exons and intronic borders +/-14pb
    DYRK1B 99.94 0 only for coding exons and intronic borders +/-14pb
    MRAP2 100.00 0 only for coding exons and intronic borders +/-14pb
  • Obesitas (genepanel) - UZA
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ADCY3 99.96 1
    BDNF 100.00 1
    LEP 99.97 1
    LEPR 96.36 1
    MC3R 100.00 1
    MC4R 99.98 1
    NR0B2 99.99 1
    NTRK2 99.99 1
    PCSK1 99.99 1
    POMC 100.00 1
    SIM1 99.97 1
    UCP3 99.98 1
  • Obesitas, early onset (8 genes) - VUB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    MC4R 100.00 0
    MC3R 100.00 0
    LEP 100.00 0
    LEPR 94.67 0
    PCSK1 100.00 0
    POMC 100.00 0
    SIM1 100.00 0
    NTRK2 100.00 0