All individuals with variants in gene AGR2

14 entries on 1 page. Showing entries 1 - 14.
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00246683 - - 2 Generation Family, 2 affected (1M, 1F), unaffected parents heterozygous carrier F yes - - 05y - yes - IBD respiratory distress (HP:0002098), Recurrent pneumonia (HP:0006532), Recurrent bacterial infections (HP:0002718), Recurrent lower respiratory tract infections (HP:0002783), Iron deficiency anemia (HP:0001891), Inflammation of the large intestine (HP:0002037), Interstitial pulmonary abnormality (HP:0006530), Chronic diarrhea (HP:0002028), Chronic bronchitis (HP:0004469), Abnormal lung morphology (HP:0002088), no chrons disease (-HP:0100280), no ulcerative colitis (-HP:0100279) 1 2 Christina Rapp
00418593 Fam1PatIV1 PubMed: Bertoli-Avella 2022 4-generation family, 4 affected (3F, M), unaffected heterozygous carrier parents/relatives F yes Oman - - - - - CF failure to thrive, weight below 5th percentile; no dysmorphism; normal motor development; normal mental development; no neurological abnormalities; recurrent lower respiratory tract infections; chronic coughing, exertional dyspnea, basal crackles, bronchial wall thickening, hilar lymphadenopathy mild bronchiectasis, fibrotic bands; no immunological abnormalities; no gastroenteric abnormalities; no cardiovascular abnormalities, ECG normal 1 4 Johan den Dunnen
00418594 Fam1PatIV2 PubMed: Bertoli-Avella 2022 cousin F yes Oman - - - - - CF failure to thrive, weight below 5th percentile, height at 10th percentile; no dysmorphism; normal motor development; normal mental development; no neurological abnormalities; recurrent lower respiratory tract infections; chronic coughing, bilateral crackles, mild bronchiectasis hilar lymphadenopathy; no immunological abnormalities; no gastroenteric abnormalities; mitral valve prolapse, mitral regurgitation 1 1 Johan den Dunnen
00418595 Fam1PatIV4 PubMed: Bertoli-Avella 2022 cousin F yes Oman - - - - - CF failure to thrive, weight below 5th percentile; no dysmorphism; delayed motor development with right hemiplegia; normal mental development; hemiparesis, paucity in the movement right side body; recurrent lower respiratory tract infections; chronic coughing, recurrent wheezing episodes, dyspnea, bilateral crackles, bronchial wall thickening, mediastinal and hilar lymphadenopathy; no immunological abnormalities; no gastroenteric abnormalities; no cardiovascular abnormalities 1 1 Johan den Dunnen
00418596 Fam2PatIII1 PubMed: Bertoli-Avella 2022 3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Bahrain Syria - - - - CF failure to thrive; prominent forehead, upslanting palpebral fissures, thin upper lips; normal motor development; normal mental development; no neurological abnormalities; recurrent lower respiratory tract infections; chronic coughing, pneumonia, hyperactive airway disease; no immunological abnormalities; acute gastroenteritis , vomiting, severe gastroesophag eal reflux, chronic diarrhea; no cardiovascular abnormalities 1 1 Johan den Dunnen
00418597 Fam3PatIV1 PubMed: Bertoli-Avella 2022 4-generation family, 3 affected (3M), unaffected heterozygous carrier parents/relatives M yes Iraq - - - - - CF failure to thrive, weight, height and ofc below 5th percentile; no dysmorphism; mild motor delay; normal mental development; no neurological abnormalities; recurrent lower respiratory tract infections; mild respiratory tract infections; no immunological abnormalities; chronic diarrhea, episodic vomiting, lethargy; no cardiovascular abnormalities 1 3 Johan den Dunnen
00418598 Fam4PatII1 PubMed: Bertoli-Avella 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Bahrain Syria - - - - CF failure to thrive, weight 5th percentile; no dysmorphism; normal motor development; normal mental development; no neurological abnormalities; recurrent lower respiratory tract infections; chronic coughing, severe pneumonia; no immunological abnormalities; no gastroenteric abnormalities; no cardiovascular abnormalities; otitis media, sensorineural hearing impairment (cochlear implant) 1 1 Johan den Dunnen
00418599 Fam5PatII1 PubMed: Bertoli-Avella 2022 2-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives F yes Egypt - - - - - CF failure to thrive; no dysmorphism; normal motor development; speech delay; global developmental delay, hypotonia; recurrent lower respiratory tract infections; interstitial lung disease; slightly low percentage of CD4+ T-cells; hepatomegaly; right sided heart failure, right ventricular and right atrial dilatation, tricuspid regurgitation, severe pulmonary hypertension 1 2 Johan den Dunnen
00418600 Fam5PatII2 PubMed: Bertoli-Avella 2022 brother M yes Egypt - - - - - CF failure to thrive; no dysmorphism; mild motor delay; normal mental development; no neurological abnormalities; recurrent lower respiratory tract infections; recurrent wheezing episodes, patch areas of ground glass appearance and scattered consolidations both lungs; no immunological abnormalities; choking, vomiting and chronic diarrhea, hepatomegaly; no cardiovascular abnormalities 1 1 Johan den Dunnen
00418601 Fam6PatIII1 PubMed: Bertoli-Avella 2022 3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Oman - - - - - CF failure to thrive; no dysmorphism; normal motor development; normal mental development; no neurological abnormalities; recurrent lower respiratory tract infections; bronchiectasis, chronic coughing; no immunological abnormalities; no gastroenteric abnormalities; no cardiovascular abnormalities 1 1 Johan den Dunnen
00418602 Fam7b PubMed: Bertoli-Avella 2022 4-generation family, 4 affected (F, 3M), unaffected heterozygous carrier parents/relatives M yes Saudi Arabia - - - - - CF failure to thrive, low weight (weight <3rd percentile, height 25th percentile); no dysmorphism; normal motor development; normal mental development; no neurological abnormalities; recurrent lower respiratory tract infections; chronic cough, pleural effusion, hilar lymphadenopathy bronchiectasis; leukocytosis, lymphocytosis; chronic diarrhea (improved after 2y), hepatomegaly; no cardiovascular abnormalities; chronic suppurative otitis media, mediastinal lymphadenopathy 1 4 Johan den Dunnen
00418603 Fam7s PubMed: Bertoli-Avella 2022 sister F yes Saudi Arabia - - - - - CF failure to thrive,low weight (weight <3rd percentile, height 10th- 25th percentile); no dysmorphism; normal motor development; normal mental development; no neurological abnormalities; recurrent lower respiratory tract infections; chronic cough, hilar lymphadenopathy; no immunological abnormalities; chronic diarrhea; no cardiovascular abnormalities; recurrent otitis media 1 1 Johan den Dunnen
00418604 Fam8 PubMed: Bertoli-Avella 2022 2-generation family, 1 affected, adopted M - Saudi Arabia - - - - - CF failure to thrive; no dysmorphism; normal motor development; normal mental development; no neurological abnormalities; recurrent lower respiratory tract infections; bronchiectasi s, persistent segmental collapse left lower lobe, chronic productive cough; no immunological abnormalities; persistent vomiting, hepatomegaly and persistent cholestasis; no cardiovascular abnormalities 1 1 Johan den Dunnen
00418605 Fam9 PubMed: Bertoli-Avella 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Pakistan - - - - - CF failure to thrive, height and weight below 5th percentile; no dysmorphism; normal motor development; normal mental development; no neurological abnormalities; recurrent lower respiratory tract infections; collapse/consolidation in segments of both lungs, subsegmental atelectasis, small bilateral axillary lymph nodes; leucocytosis; chronic diarrhea, abdominal distention with prominent veins, no visceromegaly; no cardiovascular abnormalities, ECG normal 1 1 Johan den Dunnen
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