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Familial isolated congenital asplenia(ICAS)

MedGen UID:
151935
•Concept ID:
C0685889
•
Congenital Abnormality
Synonyms: ASPLENIA, FAMILIAL; Asplenia, isolated congenital; HYPOSPLENIA, ISOLATED CONGENITAL
SNOMED CT: Congenital hypoplasia of spleen (93292008); Congenital microsplenia (93292008); Congenital small spleen (93292008); Hypoplasia of spleen (205735005)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Gene (location): RPSA (3p22.1)
 
Monarch Initiative: MONDO:0010066
OMIM®: 271400
Orphanet: ORPHA101351

Definition

Isolated congenital asplenia (ICAS) is a rare cause of primary immunodeficiency. Most affected individuals die of severe bacterial infections in early childhood. Isolated asplenia is distinct from asplenia associated with other complex visceral defects, notably heterotaxy syndromes such as Ivemark syndrome (208530) (summary by Mahlaoui et al., 2011). [from OMIM]

Additional description

From MedlinePlus Genetics
Isolated congenital asplenia is a condition in which affected individuals are missing their spleen (asplenia) but have no other developmental abnormalities. While most individuals with this condition have no spleen at all, some people have a very small, nonfunctional spleen (hyposplenism).

The spleen plays an important role in the immune system. This organ is part of the lymphatic system, which produces and transports fluids and immune cells throughout the body. The spleen produces certain immune system cells called phagocytes that help remove bacteria from the blood in order to prevent infections. The spleen also stores particular blood cells that fight foreign invaders until they are needed and filters old blood cells for removal. Because people with isolated congenital asplenia lack these immune functions, they are highly susceptible to bacterial infections.

People with isolated congenital asplenia are prone to developing severe, recurrent infections. Infections most commonly affect the whole body (sepsis), the membrane covering the brain and spinal cord (meningitis), or the ears (otitis media). Infections are most often caused by the Streptococcus pneumoniae bacteria.

Without preventative care and proper treatment, the frequent infections caused by isolated congenital asplenia can be life-threatening.  https://medlineplus.gov/genetics/condition/isolated-congenital-asplenia

Clinical features

From HPO
Howell-Jolly bodies
MedGen UID:
5644
•Concept ID:
C0020058
•
Acquired Abnormality
Howell-Jolly bodies are small, intra-erythrocytic remnants of erythrocyte nuclei. These inclusions are solitary in each erythrocyte and strongly basophilic. These are often confused with overlying platelets, but can be distinguished by the presence of a halo around overlying platelets.
See: Search on this feature
Thrombocytosis
MedGen UID:
163397
•Concept ID:
C0836924
•
Disease or Syndrome
Increased numbers of platelets in the peripheral blood.
See: Feature record | Search on this feature
Asplenia
MedGen UID:
1830315
•Concept ID:
C5779621
•
Anatomical Abnormality
Absence (aplasia) of the spleen.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFamilial isolated congenital asplenia

Recent clinical studies

Etiology

Congenital asplenia study: clinical and laboratory characterisation of adults with congenital asplenia.
Butel-Simoes GI, Jones P, Wood EM, Spelman D, Woolley IJ, Ojaimi S
Ann Hematol 2022 Jul;101(7):1421-1434. Epub 2022 Apr 22 doi: 10.1007/s00277-022-04765-3. PMID: 35451619
HLX is a candidate gene for a pattern of anomalies associated with congenital diaphragmatic hernia, short bowel, and asplenia.
Farrell SA, Sodhi S, Marshall CR, Guerin A, Slavotinek A, Paton T, Chong K, Sirkin WL, Scherer SW, Bérubé-Simard FA, Pilon N
Am J Med Genet A 2017 Nov;173(11):3070-3074. Epub 2017 Sep 12 doi: 10.1002/ajmg.a.38354. PMID: 28898547
Isolated congenital asplenia: a French nationwide retrospective survey of 20 cases.
Mahlaoui N, Minard-Colin V, Picard C, Bolze A, Ku CL, Tournilhac O, Gilbert-Dussardier B, Pautard B, Durand P, Devictor D, Lachassinne E, Guillois B, Morin M, Gouraud F, Valensi F, Fischer A, Puel A, Abel L, Bonnet D, Casanova JL
J Pediatr 2011 Jan;158(1):142-8, 148.e1. Epub 2010 Sep 16 doi: 10.1016/j.jpeds.2010.07.027. PMID: 20846672
The absent and vanishing spleen: congenital asplenia and hyposplenism--two case reports.
Halbertsma FJ, Neeleman C, Weemaes CM, van Deuren M
Acta Paediatr 2005 Mar;94(3):369-71. doi: 10.1111/j.1651-2227.2005.tb03082.x. PMID: 16028659
Familial isolated congenital asplenia: a rare, frequently hereditary dominant condition, often detected too late as a cause of overwhelming pneumococcal sepsis. Report of a new case and review of 31 others.
Gilbert B, Menetrey C, Belin V, Brosset P, de Lumley L, Fisher A
Eur J Pediatr 2002 Jul;161(7):368-72. Epub 2002 Jun 4 doi: 10.1007/s00431-002-0965-1. PMID: 12111187

Diagnosis

Congenital asplenia study: clinical and laboratory characterisation of adults with congenital asplenia.
Butel-Simoes GI, Jones P, Wood EM, Spelman D, Woolley IJ, Ojaimi S
Ann Hematol 2022 Jul;101(7):1421-1434. Epub 2022 Apr 22 doi: 10.1007/s00277-022-04765-3. PMID: 35451619
Sporadic isolated congenital asplenia with fulminant pneumococcal meningitis: a case report and updated literature review.
Iijima S
BMC Infect Dis 2017 Dec 18;17(1):777. doi: 10.1186/s12879-017-2896-5. PMID: 29254492Free PMC Article
Isolated congenital asplenia: a French nationwide retrospective survey of 20 cases.
Mahlaoui N, Minard-Colin V, Picard C, Bolze A, Ku CL, Tournilhac O, Gilbert-Dussardier B, Pautard B, Durand P, Devictor D, Lachassinne E, Guillois B, Morin M, Gouraud F, Valensi F, Fischer A, Puel A, Abel L, Bonnet D, Casanova JL
J Pediatr 2011 Jan;158(1):142-8, 148.e1. Epub 2010 Sep 16 doi: 10.1016/j.jpeds.2010.07.027. PMID: 20846672
Familial isolated congenital asplenia: case report and literature review.
Ahmed SA, Zengeya S, Kini U, Pollard AJ
Eur J Pediatr 2010 Mar;169(3):315-8. Epub 2009 Jul 19 doi: 10.1007/s00431-009-1030-0. PMID: 19618213
The absent and vanishing spleen: congenital asplenia and hyposplenism--two case reports.
Halbertsma FJ, Neeleman C, Weemaes CM, van Deuren M
Acta Paediatr 2005 Mar;94(3):369-71. doi: 10.1111/j.1651-2227.2005.tb03082.x. PMID: 16028659

Therapy

Congenital asplenia study: clinical and laboratory characterisation of adults with congenital asplenia.
Butel-Simoes GI, Jones P, Wood EM, Spelman D, Woolley IJ, Ojaimi S
Ann Hematol 2022 Jul;101(7):1421-1434. Epub 2022 Apr 22 doi: 10.1007/s00277-022-04765-3. PMID: 35451619
Sporadic isolated congenital asplenia with fulminant pneumococcal meningitis: a case report and updated literature review.
Iijima S
BMC Infect Dis 2017 Dec 18;17(1):777. doi: 10.1186/s12879-017-2896-5. PMID: 29254492Free PMC Article
Familial isolated congenital asplenia: a rare, frequently hereditary dominant condition, often detected too late as a cause of overwhelming pneumococcal sepsis. Report of a new case and review of 31 others.
Gilbert B, Menetrey C, Belin V, Brosset P, de Lumley L, Fisher A
Eur J Pediatr 2002 Jul;161(7):368-72. Epub 2002 Jun 4 doi: 10.1007/s00431-002-0965-1. PMID: 12111187

Prognosis

A Rare Case of Isolated Congenital Asplenia Presenting in Septic Shock: Howell-Jolly Bodies a Clue to Early Diagnosis.
Bangalore Prakash P, Kwon SC, Badheka A, Allareddy V
Clin Pediatr (Phila) 2018 May;57(5):597-599. Epub 2017 Aug 25 doi: 10.1177/0009922817727468. PMID: 28840769
HLX is a candidate gene for a pattern of anomalies associated with congenital diaphragmatic hernia, short bowel, and asplenia.
Farrell SA, Sodhi S, Marshall CR, Guerin A, Slavotinek A, Paton T, Chong K, Sirkin WL, Scherer SW, Bérubé-Simard FA, Pilon N
Am J Med Genet A 2017 Nov;173(11):3070-3074. Epub 2017 Sep 12 doi: 10.1002/ajmg.a.38354. PMID: 28898547
The absent and vanishing spleen: congenital asplenia and hyposplenism--two case reports.
Halbertsma FJ, Neeleman C, Weemaes CM, van Deuren M
Acta Paediatr 2005 Mar;94(3):369-71. doi: 10.1111/j.1651-2227.2005.tb03082.x. PMID: 16028659
Familial isolated congenital asplenia: a rare, frequently hereditary dominant condition, often detected too late as a cause of overwhelming pneumococcal sepsis. Report of a new case and review of 31 others.
Gilbert B, Menetrey C, Belin V, Brosset P, de Lumley L, Fisher A
Eur J Pediatr 2002 Jul;161(7):368-72. Epub 2002 Jun 4 doi: 10.1007/s00431-002-0965-1. PMID: 12111187

Clinical prediction guides

HLX is a candidate gene for a pattern of anomalies associated with congenital diaphragmatic hernia, short bowel, and asplenia.
Farrell SA, Sodhi S, Marshall CR, Guerin A, Slavotinek A, Paton T, Chong K, Sirkin WL, Scherer SW, Bérubé-Simard FA, Pilon N
Am J Med Genet A 2017 Nov;173(11):3070-3074. Epub 2017 Sep 12 doi: 10.1002/ajmg.a.38354. PMID: 28898547
The absent and vanishing spleen: congenital asplenia and hyposplenism--two case reports.
Halbertsma FJ, Neeleman C, Weemaes CM, van Deuren M
Acta Paediatr 2005 Mar;94(3):369-71. doi: 10.1111/j.1651-2227.2005.tb03082.x. PMID: 16028659

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
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