- Diseases
- MPDU1-CDG
MPDU1-CDG
Name: |
MPDU1-CDG
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Description: |
The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type If is characterised by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies.
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ORPHAcode: |
79323
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Synonyms: |
CDG syndrome type If
CDG-If
CDG1F
Carbohydrate deficient glycoprotein syndrome type If
Congenital disorder of glycosylation type 1f
Congenital disorder of glycosylation type If
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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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Congenital disorders of glycosylation (100 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ALDOB 84.08 0 NM_000035.4 ALG1 98.93 0 NM_019109.5 ALG10 99.70 0 NM_032834.4 ALG11 99.76 0 NM_001004127.3 ALG12 99.83 0 NM_024105.4 ALG13 99.93 0 NM_001099922.3 ALG14 99.94 0 NM_144988.4 ALG2 99.94 0 NM_033087.4 ALG3 99.94 0 NM_005787.6 ALG5 99.94 0 NM_013338.5 ALG6 99.94 0 NM_013339.4 ALG8 99.94 0 NM_024079.5 ALG9 99.95 0 NM_024740.2 ATP6AP1 99.95 0 NM_001183.6 ATP6AP2 99.95 0 NM_005765.3 ATP6V0A2 99.95 0 NM_012463.4 ATP6V1A 99.95 0 NM_001690.4 ATP6V1E1 99.96 0 NM_001696.4 B4GALT1 99.96 0 NM_001497.4 CAD 99.96 0 NM_004341.5 CAMLG 99.97 0 NM_001745.4 CCDC115 99.97 0 NM_032357.4 COG1 99.97 0 NM_018714.3 COG2 99.97 0 NM_007357.3 COG3 99.97 0 NM_031431.4 COG4 99.97 0 NM_015386.3 COG5 99.97 0 NM_006348.5 COG6 99.97 0 NM_020751.3 COG7 99.97 0 NM_153603.4 COG8 99.98 0 NM_032382.5 DAD1 99.98 0 NM_001344.4 DDOST 99.98 0 NM_005216.5 DHDDS 99.98 0 NM_024887.4 DHRSX 99.98 0 NM_145177.3 DOLK 99.98 0 NM_014908.4 DOLPP1 99.98 0 NM_020438.5 DPAGT1 99.98 0 NM_001382.4 DPM1 99.98 0 NM_003859.3 DPM2 99.98 0 NM_003863.4 DPM3 99.98 0 NM_153741.2 EDEM3 99.98 0 NM_025191.4 FCSK 99.99 0 NM_145059.3 FUT1 99.99 0 NM_000148.4 FUT8 99.99 0 NM_178155.3 G6PC3 99.99 0 NM_138387.4 GALE 99.99 0 NM_000403.4 GALK1 99.99 0 NM_000154.2 GALM 99.99 0 NM_138801.3 GALT 99.99 0 NM_000155.4 GANAB 99.99 0 NM_198335.4 GET3 99.99 0 NM_004317.4 GET4 99.99 0 NM_015949.3 GFPT1 99.99 0 NM_001244710.2 GFUS 99.99 0 NM_003313.4 GMPPA 99.99 0 NM_205847.3 GMPPB 99.99 0 NM_013334.4 GNE 99.99 0 NM_001128227.3 GNPNAT1 99.99 0 NM_198066.4 MAGT1 99.99 0 NM_032121.5 MAN1B1 99.99 0 NM_016219.5 MAN2B2 99.99 0 NM_015274.3 MGAT2 99.99 0 NM_002408.4 MOGS 99.99 0 NM_006302.3 MPDU1 100.00 0 NM_004870.4 MPI 100.00 0 NM_002435.3 NANS 100.00 0 NM_018946.4 NPL 100.00 0 NM_030769.3 NUS1 100.00 0 NM_138459.5 OST4 100.00 0 NM_001134693.2 OSTC 100.00 0 NM_001267818.2 PGM1 100.00 0 NM_002633.3 PGM3 100.00 0 NM_001199917.2 PMM2 100.00 0 NM_000303.3 PRKCSH 100.00 0 NM_002743.3 RFT1 100.00 0 NM_052859.4 RPN1 100.00 0 NM_002950.4 RPN2 100.00 0 NM_002951.5 SEC23B 100.00 0 NM_006363.6 SLC10A7 100.00 0 NM_001300842.3 SLC35A1 100.00 0 NM_006416.5 SLC35A2 100.00 0 NM_001042498.3 SLC35A3 100.00 0 NM_012243.3 SLC35C1 100.00 0 NM_018389.5 SLC35D1 100.00 0 NM_015139.3 SLC37A4 100.00 0 NM_001164277.2 SLC39A8 100.00 0 NM_022154.5 SLC9A7 100.00 0 NM_032591.3 SRD5A3 100.00 0 NM_024592.5 SSR3 100.00 0 NM_007107.5 SSR4 100.00 0 NM_001204526.1 STT3A 100.00 0 NM_001278503.2 STT3B 100.00 0 NM_178862.3 STX5 100.00 0 NM_003164.5 TMEM165 100.00 0 NM_018475.5 TMEM199 100.00 0 NM_152464.3 TRAPPC9 100.00 0 NM_031466.8 TUSC3 100.00 0 NM_006765.4 UGDH 100.00 0 NM_003359.4 UGP2 100.00 0 NM_006759.4 VMA21 100.00 0 NM_001017980.4