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A splenectomy is the surgical procedure that partially or completely removes the spleen. The spleen is an important organ in regard to immunological function due to its ability to efficiently destroy encapsulated bacteria. Therefore, removal of the spleen runs the risk of overwhelming post-splenectomy infection, a medical emergency and rapidly fatal disease caused by the inability of the body's immune system to properly fight infection following splenectomy or asplenia.
Online Mendelian Inheritance in Man (OMIM) is a continuously updated catalog of human genes and genetic disorders and traits, with a particular focus on the gene-phenotype relationship. As of 28 June 2019, approximately 9,000 of the over 25,000 entries in OMIM represented phenotypes; the rest represented genes, many of which were related to known phenotypes.
Aniridia is the absence of the iris, a muscular structure that opens and closes the pupil to allow light into the eye. It is also responsible for eye color. Without it, the central eye appears all black. It can be congenital, in which both eyes are usually involved, or caused by a penetrant injury. Isolated aniridia is a congenital disorder that is not limited to a defect in iris development, but is a panocular condition with macular and optic nerve hypoplasia, cataract, and corneal changes. Vision may be severely compromised and the disorder is frequently associated with some ocular complications: nystagmus, amblyopia, buphthalmos, and cataract. Aniridia in some individuals occurs as part of a syndrome, such as WAGR syndrome, or Gillespie syndrome.
Asplenia refers to the absence of normal spleen function and is associated with some serious infection risks. Hyposplenism is used to describe reduced ('hypo-') splenic functioning, but not as severely affected as with asplenism.
An overwhelming post-splenectomy infection (OPSI) is a rare but rapidly fatal infection occurring in individuals following removal of the spleen. The infections are typically characterized by either meningitis or sepsis, and are caused by encapsulated organisms including Streptococcus pneumoniae. It is a medical emergency and requires immediate treatment. Death has been reported to occur within 12 hours.
Situs ambiguus is a rare congenital defect in which the major visceral organs are distributed abnormally within the chest and abdomen. Clinically heterotaxy spectrum generally refers to any defect of Left-right asymmetry and arrangement of the visceral organs; however, classical heterotaxy requires multiple organs to be affected. This does not include the congenital defect situs inversus, which results when arrangement of all the organs in the abdomen and chest are mirrored, so the positions are opposite the normal placement. Situs inversus is the mirror image of situs solitus, which is normal asymmetric distribution of the abdominothoracic visceral organs. Situs ambiguus can also be subdivided into left-isomerism and right isomerism based on the defects observed in the spleen, lungs and atria of the heart.
Severe congenital neutropenia (SCN), also often known as Kostmann syndrome or disease, is a group of rare disorders that affect myelopoiesis, causing a congenital form of neutropenia, usually without other physical malformations. SCN manifests in infancy with life-threatening bacterial infections. It causes severe pyogenic infections. It can be caused by autosomal dominant inheritance of the ELANE gene, autosomal recessive inheritance of the HAX1 gene. There is an increased risk of leukemia and myelodysplastic cancers.
Lysinuric protein intolerance (LPI) is an autosomal recessive metabolic disorder affecting amino acid transport.
Diamond–Blackfan anemia (DBA) is a congenital erythroid aplasia that usually presents in infancy. DBA causes low red blood cell counts (anemia), without substantially affecting the other blood components, which are usually normal. This is in contrast to Shwachman–Bodian–Diamond syndrome, in which the bone marrow defect results primarily in neutropenia, and Fanconi anemia, where all cell lines are affected resulting in pancytopenia. There is a risk to develop acute myelogenous leukemia (AML) and certain other cancers.
Oculocutaneous albinism is a form of albinism involving the eyes, the skin, and the hair. Overall, an estimated 1 in 20,000 people worldwide are born with oculocutaneous albinism. OCA is caused by mutations in several genes that control the synthesis of melanin within the melanocytes. Seven types of oculocutaneous albinism have been described, all caused by a disruption of melanin synthesis and all autosomal recessive disorders. Oculocutaneous albinism is also found in non-human animals.
Glucocorticoid deficiency 1 is an adrenocortical failure characterized by low levels of plasma cortisol produced by the adrenal gland despite high levels of plasma ACTH. This is an inherited disorder with several different causes which define the type.
Complement deficiency is an immunodeficiency of absent or suboptimal functioning of one of the complement system proteins. Because of redundancies in the immune system, many complement disorders are never diagnosed. Some studies estimate that less than 10% are identified. Hypocomplementemia may be used more generally to refer to decreased complement levels, while secondary complement disorder means decreased complement levels that are not directly due to a genetic cause but secondary to another medical condition.
Vici syndrome, also called immunodeficiency with cleft lip/palate, cataract, hypopigmentation and absent corpus callosum, is a rare autosomal recessive congenital disorder characterized by albinism, agenesis of the corpus callosum, cataracts, cardiomyopathy, severe psychomotor retardation, seizures, immunodeficiency and recurrent severe infections. To date, about 50 cases have been reported.
Chronic mucocutaneous candidiasis is an immune disorder of T cells. It is characterized by chronic infections with Candida that are limited to mucosal surfaces, skin, and nails. It can also be associated with other types of infections, such as human papilloma virus. An association with chromosome 2 has been identified.
Pontocerebellar hypoplasia (PCH) is a heterogeneous group of rare neurodegenerative disorders caused by genetic mutations and characterised by progressive atrophy of various parts of the brain such as the cerebellum or brainstem. Where known, these disorders are inherited in an autosomal recessive fashion. There is no known cure for PCH.
Ribosomopathies are diseases caused by abnormalities in the structure or function of ribosomal component proteins or rRNA genes, or other genes whose products are involved in ribosome biogenesis.
Mendelian traits behave according to the model of monogenic or simple gene inheritance in which one gene corresponds to one trait. Discrete traits with simple Mendelian inheritance patterns are relatively rare in nature, and many of the clearest examples in humans cause disorders. Discrete traits found in humans are common examples for teaching genetics.
North American Indian childhood cirrhosis (NAIC) is a disease in humans that can affect Ojibway-Cree children in northwestern Quebec, Canada. The disease is due to an autosomal recessive abnormality of the UTP4 gene, which codes for cirhin, a nucleolar protein.
The CARD-CC protein family is defined by an evolutionary conserved "caspase activation and recruitment domain" (CARD) and a coiled-coil (CC) domain. Coiled-coils (CC) act as oligomerization domains for many proteins such as structural and motor proteins, and transcription factors. This means that monomers are converted to macromolecular complexes by polymerization. In humans and other jawed vertebrates, the family consists of CARD9 and the three "CARD-containing MAGUK protein" (CARMA) proteins CARD11 (CARMA1), CARD14 (CARMA2) and CARD10 (CARMA3). Although the MAGUK protein DLG5 contains both a CARD domain and a CC domain, it does not belong to the same family as the CARD-CC proteins since the evolutionary origin of its CARD domain is very likely to be different.
References
- ↑ Online Mendelian Inheritance in Man. OMIM entry 271400: Asplenia, isolated congenital; ICAS. Johns Hopkins University.
- 1 2 Ahmed SA, Zengeya S, Kini U, Pollard AJ (2010). "Familial isolated congenital asplenia: case report and literature review". Eur. J. Pediatr. 169 (3): 315–8. doi:10.1007/s00431-009-1030-0. PMID 19618213. S2CID 8132002.
- 1 2 Mahlaoui N, Minard-Colin V, Picard C, et al. (2011). "Isolated congenital asplenia: a French nationwide retrospective survey of 20 cases". J. Pediatr. 158 (1): 142–8, 148.e1. doi:10.1016/j.jpeds.2010.07.027. PMID 20846672.
- 1 2 3 Bolze A, Mahlaoui N, Byun M, et al. (2013). "Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia". Science. 340 (6135): 976–8. Bibcode:2013Sci...340..976B. doi:10.1126/science.1234864. PMC 3677541 . PMID 23579497.
- ↑ Shachor-Meyouhas Y, Sprecher H, Kassis I (2010). "Isolated congenital asplenia--a rare cause of severe pneumococcal sepsis". Harefuah (in Hebrew and English). 149 (8): 486–9, 552. PMID 21341424.
- ↑ McCann KL, Baserga SJ (2013). "Genetics. Mysterious ribosomopathies". Science. 341 (6148): 849–50. doi:10.1126/science.1244156. PMC 3893057 . PMID 23970686.
- ↑ Online Mendelian Inheritance in Man. OMIM entry 150370: Ribosomal protein SA; RPSA. Johns Hopkins University.
- ↑ Online Mendelian Inheritance in Man. OMIM entry 208530: Right atrial isomerism; RAI. Johns Hopkins University.
- 1 2 Reference, Genetics Home. "Isolated congenital asplenia". Genetics Home Reference. Retrieved 2020-09-18.
- ↑ "The spleen: Anatomy, function, and disease". www.medicalnewstoday.com. 2018-01-23. Retrieved 2020-09-18.