respiratory infections, recurrent, and failure to thrive with or without diarrhea
MONDO:0859370Mondo
Findings
No curated finding names respiratory infections, recurrent, and failure to thrive with or without diarrhea yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Infantile onset · Neonatal onset · Childhood onset
HPO, annotations 2026-09-02
Features
38 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Failure to thriveHPOHP:0001508
- 13 of 13 reported patients
- Recurrent lower respiratory tract infectionsHPOHP:0002783
- 13 of 13 reported patients
- Chronic coughHPOHP:0034315
- 5 of 13 reported patients
- Chronic diarrheaHPOHP:0002028
- 5 of 13 reported patients
- Hilar lymph node enlargementHPOHP:0034388
- 5 of 13 reported patients
- BronchiectasisHPOHP:0002110
- 4 of 13 reported patients
- CoughHPOHP:0012735
- 4 of 13 reported patients
- HepatomegalyHPOHP:0002240
- 4 of 13 reported patients
- CracklesHPOHP:0030830
- 3 of 13 reported patients
- Motor delayHPOHP:0001270
- 3 of 13 reported patients
- Recurrent otitis mediaHPOHP:0000403
- 3 of 13 reported patients
- Bronchial wall thickeningHPOHP:0033542
- 2 of 13 reported patients
Show the remaining 26
- Increased total leukocyte countHPOHP:0001974
- 2 of 13 reported patients
- VomitingHPOHP:0002013
- 2 of 13 reported patients
- WheezingHPOHP:0030828
- 2 of 13 reported patients
- Abdominal distentionHPOHP:0003270
- 1 of 13 reported patients
- Abnormal pulmonary interstitial morphologyHPOHP:0006530
- 1 of 13 reported patients
- AsthmaHPOHP:0002099
- 1 of 13 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- AGR2HGNC:328
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2022
Where it sits
- A kind of