Belgian Genetic Tests database- Diseases
- PMM2-CDG
PMM2-CDG
| Name: |
PMM2-CDG
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| Description: |
A rare congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults.
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| ORPHAcode: |
79318
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| Synonyms: |
CDG syndrome type Ia
CDG-Ia
CDG1A
Carbohydrate deficient glycoprotein syndrome type Ia
Congenital disorder of glycosylation type 1a
Congenital disorder of glycosylation type Ia
Phosphomannomutase 2 deficiency
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| XREF(s): | |
| Analyte(s): | |
| Created: |
13 May 2019 - 01:02
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| Changed: |
22 Jun 2023 - 16:14
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Ciliopathy, polycystic kidney and liver diseases, ADTKD, nephronophtisis, Bardet-Biedl syndromes and kidney cancers (146 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ADAMTS9 100.00 1 NM_182920.2 ALG8 100.00 1 NM_024079.5 ANKS6 100.00 1 NM_173551.5 ARL6 100.00 1 NM_001278293.3 BBIP1 100.00 1 NM_001195305.3 BBS1 100.00 1 NM_024649.5 BBS10 100.00 1 NM_024685.4 BBS12 100.00 1 NM_152618.3 BBS2 100.00 1 NM_031885.5 BBS4 100.00 1 NM_033028.5 BBS5 100.00 1 NM_152384.3 BBS7 100.00 1 NM_176824.3 BBS9 100.00 1 NM_198428.3 CDC73 100.00 1 NM_024529.5 CEP164 100.00 1 NM_014956.5 CEP290 100.00 1 NM_025114.4 CEP83 100.00 1 NM_016122.3 COL4A1 100.00 1 NM_001845.6 COL4A3 100.00 1 NM_000091.5 COL4A4 100.00 1 NM_000092.5 COL4A5 100.00 1 NM_033380.3 DCDC2 100.00 1 NM_016356.5 DNAJB11 100.00 1 NM_016306.6 DZIP1L 100.00 1 NM_173543.3 EYA1 100.00 1 NM_000503.6 FAN1 100.00 1 NM_014967.5 FH 100.00 1 NM_000143.4 FLCN 100.00 1 NM_144997.7 GANAB 100.00 1 NM_198334.3 GATA3 100.00 1 NM_001002295.2 GATM 100.00 1 NM_001482.3 GLIS2 100.00 1 NM_032575.3 HNF1B 100.00 1 NM_000458.4 IFT172 100.00 1 NM_015662.3 IFT27 100.00 1 NM_001177701.3 INVS 100.00 1 NM_014425.5 IQCB1 100.00 1 NM_001023570.4 LRP5 100.00 1 NM_002335.4 LRP6 100.00 1 NM_002336.3 LZTFL1 100.00 1 NM_020347.4 MAPKBP1 100.00 1 NM_014994.3 MET 100.00 1 NM_000245.4 MKKS 100.00 1 NM_170784.3 MKS1 100.00 1 NM_017777.4 NEK8 100.00 1 NM_178170.3 NOTCH2 99.00 1 NM_024408.4 NPHP1 100.00 1 NM_001128178.3 NPHP3 100.00 1 NM_153240.5 NPHP4 100.00 1 NM_015102.5 OFD1 100.00 1 NM_003611.3 PAX2 100.00 1 NM_000278.5 PKD1 100.00 1 NM_001009944.3 PKD2 100.00 1 NM_000297.4 PKHD1 100.00 1 NM_138694.4 PMM2 0.00 1 NM_000303.2 une seule position PRKCSH 100.00 1 NM_001289104.2 PTEN 100.00 1 NM_000314.8 REN 100.00 1 NM_000537.4 RPGRIP1L 96.00 1 NM_015272.5 SDCCAG8 100.00 1 NM_006642.5 SDHB 100.00 1 NM_003000.3 SDHD 100.00 1 NM_003002.4 SEC61A1 100.00 1 NM_013336.4 SEC63 100.00 1 NM_007214.5 TMEM67 100.00 1 NM_153704.6 TRIM32 100.00 1 NM_012210.4 TSC1 100.00 1 NM_000368.5 TSC2 100.00 1 NM_000548.5 TTC21B 100.00 1 NM_024753.5 TTC8 100.00 1 NM_144596.4 UMOD 100.00 1 NM_003361.4 VHL 100.00 1 NM_000551.4 WDPCP 100.00 1 NM_015910.7 WDR19 100.00 1 NM_025132.4 XPNPEP3 100.00 1 NM_022098.4 ZNF423 100.00 1 NM_001379286.1 AHI1 100.00 1 NM_001134831.2 ALG5 100.00 1 NM_013338.5 ALG9 100.00 1 NM_024740.2 ARL13B 100.00 1 NM_001174150.2 ARL3 100.00 1 NM_004311.4 ARMC9 100.00 1 NM_001352754.2 ATXN10 100.00 1 NM_013236.4 B9D1 100.00 1 NM_015681.6 B9D2 100.00 1 NM_030578.4 BAP1 100.00 1 NM_004656.4 C2CD3 100.00 1 NM_001286577.2 CC2D2A 100.00 1 NM_001378615.1 CCDC28B 100.00 1 NM_024296.5 CEP104 100.00 1 NM_014704.4 CEP120 100.00 1 NM_001375405.1 CEP41 100.00 1 NM_018718.3 CFAP418 100.00 1 NM_177965.4 CPLANE1 100.00 1 NM_001384732.1 CSPP1 100.00 1 NM_001382391.1 CYP24A1 100.00 1 NM_000782.5 DLG5 100.00 1 NM_004747.4 DYNC2H1 100.00 1 NM_001377.3 DYNC2I1 100.00 1 NM_018051.5 DYNC2I2 100.00 1 NM_052844.4 DYNC2LI1 100.00 1 NM_016008.4 DYNLT2B 100.00 1 NM_152773.5 EVC 100.00 1 NM_153717.3 EVC2 100.00 1 NM_147127.5 FAM149B1 100.00 1 NM_173348.2 HNF1A 100.00 1 NM_000545.8 HYLS1 100.00 1 NM_001134793.2 IFT122 100.00 1 NM_052989.3 IFT140 100.00 1 NM_014714.4 IFT43 100.00 1 NM_001102564.3 IFT52 100.00 1 NM_016004.5 IFT74 100.00 1 NM_025103.4 IFT80 100.00 1 NM_020800.3 IFT81 100.00 1 NM_014055.4 INPP5E 100.00 1 NM_019892.6 INTU 100.00 1 NM_015693.4 JAG1 100.00 1 NM_000214.3 KATNIP 100.00 1 NM_015202.5 KIAA0586 100.00 1 NM_001329943.3 KIAA0753 100.00 1 NM_014804.3 KIF14 100.00 1 NM_014875.3 KIF7 100.00 1 NM_198525.3 NEK1 100.00 1 NM_001199397.3 PARN 100.00 1 NM_002582.4 PDE6D 100.00 1 NM_002601.4 PIBF1 100.00 1 NM_006346.4 POC1B 100.00 1 NM_172240.3 RNF139 100.00 1 NM_007218.4 SDHA 100.00 1 NM_004168.4 SDHC 100.00 1 NM_003001.5 SEC61B 100.00 1 NM_006808.3 SLC41A1 100.00 1 NM_173854.6 SREBF1 100.00 1 NM_004176.5 SUFU 100.00 1 NM_016169.4 TCTN1 100.00 1 NM_001082538.3 TCTN2 100.00 1 NM_024809.5 TCTN3 100.00 1 NM_015631.6 TFAP2A 100.00 1 NM_001372066.1 TMEM107 100.00 1 NM_183065.4 TMEM138 100.00 1 NM_016464.5 TMEM216 100.00 1 NM_001173990.3 TMEM218 100.00 1 NM_001258244.2 TMEM231 100.00 1 NM_001077418.3 TMEM237 100.00 1 NM_001044385.3 TOGARAM1 100.00 1 NM_001308120.2 TRAF3IP1 100.00 1 NM_015650.4 TXNDC15 100.00 1 NM_024715.4 WDR35 100.00 1 NM_020779.4 -
Congenital disorder of glycosylation (3 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments PMM2 95.00 0 interpretable range CS1>95% MPI 95.00 0 interpretable range CS1>95% ALG6 95.00 0 interpretable range CS1>95% -
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%