KEGG DISEASE: Congenital asplenia

KEGG

DISEASE: Congenital asplenia

Entry

H01435                      Disease

Name

Congenital asplenia

Subgroup

Isolated congenital asplenia
Asplenia syndrome
Ivemark syndrome

Description

Congenital asplenia is a rare developmental disorder that is characterized by the absence of a spleen at birth. The patients are prone to life-threatening bacterial infections. Isolated congenital asplenia has no other developmental defects. Mutations in the gene RPSA, which encodes ribosomal protein, cause more than half of the cases of isolated congenital asplenia. The mode of inheritance is usually autosomal dominant, though sporadic cases are also reported. Congenital asplenia often occurs in the context of a recognised malformation syndrome, called the Ivemark syndrome.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the liver, biliary tract, pancreas or spleen
    LB22  Structural developmental anomalies of spleen
     H01435  Congenital asplenia

Pathway

Ribosome

Cytokine-cytokine receptor interaction

Gene

RPSA [HSA:3921] [KO:K02998]
GDF1 [HSA:2657] [KO:K05495]

Comment

Please see also H00632 Heterotaxy.

Other DBs

ICD-11:

MeSH:

C563028 D059446

OMIM:

Reference

PMID:23579497 (RPSA)

Authors

Bolze A, Mahlaoui N, Byun M, Turner B, Trede N, Ellis SR, Abhyankar A, Itan Y, Patin E, Brebner S, Sackstein P, Puel A, Picard C, Abel L, Quintana-Murci L, Faust SN, Williams AP, Baretto R, Duddridge M, Kini U, Pollard AJ, Gaud C, Frange P, Orbach D, Emile JF, Stephan JL, Sorensen R, Plebani A, Hammarstrom L, Conley ME, Selleri L, Casanova JL

Title

Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia.

Journal

Science 340:976-8 (2013)
DOI:10.1126/science.1234864

Reference

Authors

Ahmed SA, Zengeya S, Kini U, Pollard AJ

Title

Familial isolated congenital asplenia: case report and literature review.

Journal

Eur J Pediatr 169:315-8 (2010)
DOI:10.1007/s00431-009-1030-0

Reference

PMID:20413652 (GDF1)

Authors

Kaasinen E, Aittomaki K, Eronen M, Vahteristo P, Karhu A, Mecklin JP, Kajantie E, Aaltonen LA, Lehtonen R

Title

Recessively inherited right atrial isomerism caused by mutations in growth/differentiation factor 1 (GDF1).

Journal

Hum Mol Genet 19:2747-53 (2010)
DOI:10.1093/hmg/ddq164

LinkDB

» Japanese version

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