Belgian Genetic Tests database- Diseases
- Acute neonatal citrullinemia type I
Acute neonatal citrullinemia type I
| Name: |
Acute neonatal citrullinemia type I
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| Description: |
A severe form of citrullinemia type 1 characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting, seizures and possible loss of consciousness, within one to a few days of birth, with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits.
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| ORPHAcode: |
247546
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| Synonyms: |
Acute neonatal citrullinemia type 1
Classic citrullinemia type 1
Classic citrullinemia type I
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| XREF(s): | |
| Analyte(s): | |
| Created: |
13 May 2019 - 01:02
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| Changed: |
01 May 2022 - 06:55
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Ichthyosis and erythroderma (95 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCA12 95.00 0 NM_173076.2/ interpretable range CS1>95% ABHD5 95.00 0 NM_016006.4/ interpretable range CS1>95% ADAM17 95.00 0 NM_003183.4/ interpretable range CS1>95% ALDH3A2 95.00 0 NM_000382.2/ interpretable range CS1>95% ALOX12B 95.00 0 NM_001139.2/ interpretable range CS1>95% ALOXE3 95.00 0 NM_021628.2/ interpretable range CS1>95% AP1B1 95.00 0 NM_001127.3/ interpretable range CS1>95% AP1S1 95.00 0 NM_001283.3/ interpretable range CS1>95% ASPRV1 95.00 0 NM_152792.2/ interpretable range CS1>95% ASS1 95.00 0 NM_000050.4/ interpretable range CS1>95% ATP7A 95.00 0 NM_000052.6/ interpretable range CS1>95% BCKDHA 95.00 0 NM_000709.3/ interpretable range CS1>95% BCKDHB 95.00 0 NM_183050.2/ interpretable range CS1>95% BTD 95.00 0 NM_000060.3/ interpretable range CS1>95% BTK 95.00 0 NM_000061.2/ interpretable range CS1>95% CAPN12 95.00 0 NM_144691.3/ interpretable range CS1>95% CARD14 95.00 0 NM_024110.4/ interpretable range CS1>95% CASP14 95.00 0 NM_012114.2/ interpretable range CS1>95% CAST 95.00 0 NM_001042440.4/ interpretable range CS1>95% CDSN 95.00 0 NM_001264.4/ interpretable range CS1>95% CERS3 95.00 0 NM_178842.3/ interpretable range CS1>95% CHST8 95.00 0 NM_001127896.1/ interpretable range CS1>95% CLDN1 95.00 0 NM_021101.4/ interpretable range CS1>95% CYP21A2 95.00 0 NM_001875.4/ interpretable range CS1>95% CSTA 95.00 0 NM_005213.3/ interpretable range CS1>95% CTSB 95.00 0 NM_001908.4/ interpretable range CS1>95% CYP4F22 95.00 0 NM_173483.3/ interpretable range CS1>95% DBT 95.00 0 NM_001918.3/ interpretable range CS1>95% DCLRE1C 95.00 0 NM_001033855.2/ interpretable range CS1>95% DLD 95.00 0 NM_000108.4/ interpretable range CS1>95% DSG1 95.00 0 NM_001942.2/ interpretable range CS1>95% GLB1 95.00 0 NM_006579.2/ interpretable range CS1>95% ELOVL1 95.00 0 NM_001256399.1/ interpretable range CS1>95% ELOVL4 95.00 0 NM_022726.3/ interpretable range CS1>95% ERCC2 95.00 0 NM_000400.3/ interpretable range CS1>95% ERCC3 95.00 0 NM_000122.1/ interpretable range CS1>95% FGFR1 95.00 0 NM_002016.1/ interpretable range CS1>95% FLG2 95.00 0 NM_001014342.2/ interpretable range CS1>95% GBA 95.00 0 NM_001005741.2/ interpretable range CS1>95% GJA1 95.00 0 NM_000165.4/ interpretable range CS1>95% GJB2 95.00 0 NM_004004.5/ interpretable range CS1>95% GJB3 95.00 0 NM_024009.2/ interpretable range CS1>95% GJB4 95.00 0 NM_153212.2/ interpretable range CS1>95% GJB6 95.00 0 NM_006783.4/ interpretable range CS1>95% GTF2E2 95.00 0 NM_002095.4/ interpretable range CS1>95% GTF2H5 95.00 0 NM_207118.2/ interpretable range CS1>95% HLCS 95.00 0 NM_000411.6/ interpretable range CS1>95% IL36RN 95.00 0 NM_012275.2/ interpretable range CS1>95% KDSR 95.00 0 NM_002035.2/ interpretable range CS1>95% KIT 95.00 0 NM_000222.2/ interpretable range CS1>95% KRT1 95.00 0 NM_006121.3/ interpretable range CS1>95% KRT10 95.00 0 NM_000421.3/ interpretable range CS1>95% KRT14 95.00 0 NM_000526.4/ interpretable range CS1>95% KRT16 95.00 0 NM_005557.3/ interpretable range CS1>95% KRT2 95.00 0 NM_000423.2/ interpretable range CS1>95% KRT5 95.00 0 NM_000424.3/ interpretable range CS1>95% KRT6C 95.00 0 NM_173086.4/ interpretable range CS1>95% KRT83 95.00 0 NM_002282.3/ interpretable range CS1>95% KRT9 95.00 0 NM_000226.3/ interpretable range CS1>95% LIPN 95.00 0 NM_001102469.1/ interpretable range CS1>95% LORICRIN 95.00 0 NM_000427.2/ interpretable range CS1>95% MBTPS2 95.00 0 NM_015884.3/ interpretable range CS1>95% MPLKIP 95.00 0 NM_138701.3/ interpretable range CS1>95% MMUT 95.00 0 NM_000255.3/ interpretable range CS1>95% NIPAL4 95.00 0 NM_001099287.1/ interpretable range CS1>95% NSDHL 95.00 0 NM_015922.2/ interpretable range CS1>95% PCCA 95.00 0 NM_000282.3/ interpretable range CS1>95% PCCB 95.00 0 NM_000532.4/ interpretable range CS1>95% PEX7 95.00 0 NM_000288.3/ interpretable range CS1>95% PHYH 95.00 0 NM_006214.3/ interpretable range CS1>95% PIGL 95.00 0 NM_004278.4/ interpretable range CS1>95% PNPLA1 95.00 0 NM_001145717.1/ interpretable range CS1>95% NT5C3A 95.00 0 NM_015932.5/ interpretable range CS1>95% RAG1 95.00 0 NM_000448.2/ interpretable range CS1>95% RAG2 95.00 0 NM_000536.3/ interpretable range CS1>95% RNF113A 95.00 0 NM_006978.2/ interpretable range CS1>95% SDR9C7 95.00 0 NM_148897.2/ interpretable range CS1>95% SERPINB8 95.00 0 NM_198833.1/ interpretable range CS1>95% SGPL1 95.00 0 NM_003901.3/ interpretable range CS1>95% SLC25A13 95.00 0 NM_014251.2/ interpretable range CS1>95% SLC27A4 95.00 0 NM_005094.3/ interpretable range CS1>95% SLC30A2 95.00 0 NM_001004434.1/ interpretable range CS1>95% SLC39A4 95.00 0 NM_130849.3/ interpretable range CS1>95% SNAP29 95.00 0 NM_004782.3/ interpretable range CS1>95% SPINK5 95.00 0 NM_006846.3/ interpretable range CS1>95% SREBF1 95.00 0 NM_004176.4/ interpretable range CS1>95% ST14 95.00 0 NM_021978.3/ interpretable range CS1>95% STS 95.00 0 NM_000351.4/ interpretable range CS1>95% SULT2B1 95.00 0 NM_177973.1/ interpretable range CS1>95% SUMF1 95.00 0 NM_182760.3/ interpretable range CS1>95% TBX1 95.00 0 NM_080647.1/ interpretable range CS1>95% TGM1 95.00 0 NM_000359.2/ interpretable range CS1>95% TGM5 95.00 0 NM_201631.3/ interpretable range CS1>95% VIPAS39 95.00 0 NM_022067.3/ interpretable range CS1>95% VPS33B 95.00 0 NM_018668.4/ interpretable range CS1>95%