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Infant acute respiratory distress syndrome

Disease Export to PDF
Name:
Infant acute respiratory distress syndrome
Description:
Infant acute respiratory distress syndrome is a lung disorder that affects premature infants caused by developmental insufficiency of surfactant production and structural immaturity of the lungs. The symptoms usually appear shortly after birth and may include tachypnea, tachycardia, chest wall retractions (recession), expiratory grunting, nasal flaring and cyanosis during breathing efforts.
ORPHAcode:
70587
Synonyms:
Hyaline membrane disease
Infant ARDS
Infant respiratory distress syndrome
Neonatal respiratory distress syndrome
XREF(s):
Orphanet
OMIM
ICD-10
Analyte(s):
SFTPB
SFTPC
ABCA3
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Pulmonary Fibrosis (21 genes) + rs35705950 (MUC5B gene) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCA3 100.00 0 NM_001089.2
    ACD 100.00 0 NM_001082486.1
    CSF2RA 100.00 0 NM_006140.4
    CSF2RB 100.00 0 NM_000395.2
    DKC1 100.00 0 NM_001363.4
    GATA2 100.00 0 NM_032638.4
    GBA1 100.00 0 NM_001005741.2
    HPS1 100.00 0 NM_000195.3
    HPS4 100.00 0 NM_022081.5
    NHP2 100.00 0 NM_017838.3
    NKX2-1 100.00 0 NM_001079668.2
    PARN 100.00 0 NM_002582.3
    RTEL1 100.00 0 NM_032957.4
    SFTPA1 100.00 0 NM_005411.4
    SFTPA2 100.00 0 NM_001098668.2
    SFTPC 100.00 0 NM_003018.3
    SLC34A2 100.00 0 NM_006424.2
    SMPD1 100.00 0 NM_000543.4
    TERC 100.00 0 NR_001566.1
    TERT 100.00 0 NM_198253.2
    TINF2 100.00 0 NM_001099274.1
  • chILD (34 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCA3 95.00 0 NM_001089.3 / interpretable range CS1>95%
    AP3B1 95.00 0 NM_003664.5/ interpretable range CS1>95%
    AP3D1 95.00 0 NM_001261826.3/ interpretable range CS1>95%
    BLOC1S3 95.00 0 NM_212550.5/ interpretable range CS1>95%
    BLOC1S5 95.00 0 NM_201280.3/ interpretable range CS1>95%
    BLOC1S6 95.00 0 NM_012388.4/ interpretable range CS1>95%
    COPA 95.00 0 NM_004371.4/ interpretable range CS1>95%
    CSF2RA 95.00 0 NM_006140.6/ interpretable range CS1>95%
    CSF2RB 95.00 0 NM_000395.3/ interpretable range CS1>95%
    DTNBP1 95.00 0 NM_032122.5/ interpretable range CS1>95%
    FLNA 95.00 0 NM_001456.4/ interpretable range CS1>95%
    FOXF1 95.00 0 NM_001451.3/ interpretable range CS1>95%
    GATA2 95.00 0 NM_032638.5/ interpretable range CS1>95%
    HPS1 95.00 0 NM_000195.5/ interpretable range CS1>95%
    HPS3 95.00 0 NM_022081.6/ interpretable range CS1>95%
    HPS5 95.00 0 NM_181507.2/ interpretable range CS1>95%
    HPS6 95.00 0 NM_024747.6/ interpretable range CS1>95%
    MARS1 95.00 0 NM_004990.4/ interpretable range CS1>95%
    NKX2-1 95.00 0 NM_001079668.3/ interpretable range CS1>95%
    SFTPA1 95.00 0 NM_005411.5/ interpretable range CS1>95%
    SFTPA2 95.00 0 NM_001098668.4/ interpretable range CS1>95%
    SFTPB 95.00 0 NM_198843.3/ interpretable range CS1>95%
    SFTPC 95.00 0 NM_003018.4/ interpretable range CS1>95%
    STING1 95.00 0 NM_198282.4/ interpretable range CS1>95%
    TBX4 95.00 0 NM_018488.3/ interpretable range CS1>95%
    TERC 95.00 0 NR_001566.1/ interpretable range CS1>95%
    TERT 95.00 0 NM_198253.3/ interpretable range CS1>95%
    HPS4 95.00 0 NM_022081.6/ interpretable range CS1>95%
    MUC5B 95.00 0 NM_002458.3/ interpretable range CS1>95%
    PARN 95.00 0 NM_002582.4/ interpretable range CS1>95%
    RTEL1 95.00 0 NM_032957.5/ interpretable range CS1>95%
    SLC34A2 95.00 0 NM_006424.3/ interpretable range CS1>95%
    SLC7A7 95.00 0 NM_001126106.4/ interpretable range CS1>95%
    RAB5B 95.00 0 NM_002868.4/ interpretable range CS1>95%