Details of Disease

General Information of Disease (ID: DIS60HWJ)

• Disease Name: Familial isolated congenital asplenia
• Synonyms: ICAS; asplenia, isolated congenital; splenic hypoplasia; asplenia, familial; hyposplenia, isolated congenital
• Definition: Familial isolated congenital asplenia is a rare, non-syndromic, potentially life-threatening visceral malformation characterized by the absence of normal spleen function, resulting in a primary immunodeficiency. Typically, the condition manifests with severe, recurrent, overwhelming infections (especially pneumococcal sepsis) in otherwise apparently healthy infants. In adults with no history of severe sepsis in infancy, thrombocytosis may be the presenting sign. Howell-Jolly bodies on blood smears and an absent spleen on abdominal ultrasound examination are highly suggestive associated findings.
• Disease Hierarchy:
  DISQCXZX: Disorder of development or morphogenesis
  DISNGCMN: Inborn error of immunity
  DIS60HWJ: Familial isolated congenital asplenia
• Disease Identifiers:
  MONDO ID: MONDO_0010066
  MESH ID: C563028
  UMLS CUI: C0685889
  OMIM ID: 271400
  MedGen ID: 151935
  Orphanet ID: 101351
  SNOMED CT ID: 205735005

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
RPSA	TTLUW5B	Limited	Biomarker	[1]
RPSA	TTLUW5B	Strong	Autosomal dominant	[2]

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NKX2-5	OTS1SAWM	Supportive	Autosomal dominant	[3]
CDS1	OT2F591M	Strong	Biomarker	[4]
RNF213	OT4OVE9O	Strong	Genetic Variation	[5]
RPSA	OTJZHEGT	Strong	Autosomal dominant	[2]

References

• [1] Endovascular and Clinical Outcomes of Vertebrobasilar Intracranial Atherosclerosis-Related Large Vessel Occlusion.Front Neurol. 2019 Mar 19;10:215. doi: 10.3389/fneur.2019.00215. eCollection 2019.
• [2] Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia. Science. 2013 May 24;340(6135):976-8. doi: 10.1126/science.1234864. Epub 2013 Apr 11.
• [3] Congenital asplenia in mice and humans with mutations in a Pbx/Nkx2-5/p15 module. Dev Cell. 2012 May 15;22(5):913-26. doi: 10.1016/j.devcel.2012.02.009. Epub 2012 May 3.
• [4] Evaluation of Freehand B-Mode and Power-Mode 3D Ultrasound for Visualisation and Grading of Internal Carotid Artery Stenosis.PLoS One. 2017 Jan 3;12(1):e0167500. doi: 10.1371/journal.pone.0167500. eCollection 2017.
• [5] A Polymorphism in RNF213 Is a Susceptibility Gene for Intracranial Atherosclerosis.PLoS One. 2016 Jun 2;11(6):e0156607. doi: 10.1371/journal.pone.0156607. eCollection 2016.