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MAN1B1-CDG

Disease Export to PDF
Name:
MAN1B1-CDG
Description:
MAN1B1-CDG is a form of congenital disorders of N-linked glycosylation characterized by intellectual disability, delayed motor development, hypotonia and truncal obesity. Additional features include slight facial dysmorphism (hypertelorism, downslanting palpebral fissures, large, low-set ears, hypoplastic nasolabial fold, thin upper lip), hypermobility of the joints and skin laxity. The disease is caused by mutations in the gene MAN1B1 (9q34.3).
ORPHAcode:
397941
Synonyms:
Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency
Congenital disorder of glycosylation type 2 due to MAN1B1 deficiency
Congenital disorder of glycosylation type II due to MAN1B1 deficiency
Intellectual disability-truncal obesity syndrome
XREF(s):
Orphanet
ICD-10
Analyte(s):
MAN1B1
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%