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Absent tonsils

MedGen UID:
154366
Concept ID:
C0576999
Finding
Synonyms: Hypoplastic tonsils; Tonsil absent; Tonsillar hypoplasia
SNOMED CT: Tonsil absent (300277007)
 
HPO: HP:0030813

Definition

Lack of observable tonsillar tissue. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbsent tonsils

Conditions with this feature

Severe combined immunodeficiency due to DCLRE1C deficiency
MedGen UID:
355454
Concept ID:
C1865370
Disease or Syndrome
Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID (see this term) characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation.
Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome
MedGen UID:
461506
Concept ID:
C3150156
Disease or Syndrome
Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome is characterised by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. So far, it has been described in two sisters born to consanguineous parents. Both karyotypes were normal female (46,XX). No genetic anomalies could be identified by comparative genome hybridization analysis of their genomes or by analysis of genes known to be associated with these types of anomalies.

Professional guidelines

PubMed

Ahsan M, Narala B, Ednick M, Kier C
Curr Opin Pediatr 2023 Dec 1;35(6):710-715. Epub 2023 Sep 7 doi: 10.1097/MOP.0000000000001287. PMID: 37678405

Recent clinical studies

Diagnosis

Ahsan M, Narala B, Ednick M, Kier C
Curr Opin Pediatr 2023 Dec 1;35(6):710-715. Epub 2023 Sep 7 doi: 10.1097/MOP.0000000000001287. PMID: 37678405
Conley ME, Howard V
J Pediatr 2002 Oct;141(4):566-71. doi: 10.1067/mpd.2002.127711. PMID: 12378199

Therapy

Conley ME, Howard V
J Pediatr 2002 Oct;141(4):566-71. doi: 10.1067/mpd.2002.127711. PMID: 12378199

Supplemental Content

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